Incidental Mutation 'R0242:Adgrl2'
| ID |
59534 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Adgrl2
|
| Ensembl Gene |
ENSMUSG00000028184 |
| Gene Name |
adhesion G protein-coupled receptor L2 |
| Synonyms |
Lphn2, Lphh1, Lec1 |
| MMRRC Submission |
038480-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R0242 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
3 |
| Chromosomal Location |
148521219-148696191 bp(-) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
A to C
at 148544821 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000106128]
[ENSMUST00000195988]
[ENSMUST00000196526]
[ENSMUST00000197567]
[ENSMUST00000198779]
[ENSMUST00000200154]
[ENSMUST00000199238]
[ENSMUST00000199059]
[ENSMUST00000200543]
[ENSMUST00000199750]
|
| AlphaFold |
Q8JZZ7 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000106128
AA Change: I758S
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000101734
Gene: ENSMUSG00000028184
AA Change: I758S
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
25 |
N/A |
INTRINSIC |
|
Pfam:Gal_Lectin
|
49 |
129 |
2.5e-26 |
PFAM |
|
OLF
|
142 |
398 |
5.22e-140 |
SMART |
|
HormR
|
469 |
534 |
3.14e-20 |
SMART |
|
Pfam:GAIN
|
537 |
764 |
1.3e-58 |
PFAM |
|
GPS
|
788 |
840 |
3.47e-25 |
SMART |
|
Pfam:7tm_2
|
848 |
1108 |
4.6e-69 |
PFAM |
|
Pfam:Latrophilin
|
1128 |
1487 |
6.4e-181 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000195988
AA Change: I758S
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000143444
Gene: ENSMUSG00000028184
AA Change: I758S
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
25 |
N/A |
INTRINSIC |
|
Pfam:Gal_Lectin
|
49 |
129 |
3.3e-23 |
PFAM |
|
OLF
|
142 |
398 |
3.3e-142 |
SMART |
|
HormR
|
469 |
534 |
2e-22 |
SMART |
|
GPS
|
788 |
840 |
2.1e-27 |
SMART |
|
Pfam:7tm_2
|
848 |
1099 |
8.1e-66 |
PFAM |
|
Pfam:Latrophilin
|
1119 |
1189 |
2.2e-28 |
PFAM |
|
Pfam:Latrophilin
|
1184 |
1435 |
5.5e-123 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000196526
AA Change: I741S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000143788
Gene: ENSMUSG00000028184
AA Change: I741S
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
25 |
N/A |
INTRINSIC |
|
Pfam:Gal_Lectin
|
49 |
129 |
8.7e-24 |
PFAM |
|
OLF
|
138 |
394 |
3.4e-142 |
SMART |
|
HormR
|
465 |
530 |
2e-22 |
SMART |
|
Pfam:GAIN
|
533 |
747 |
1.1e-54 |
PFAM |
|
GPS
|
771 |
823 |
2.2e-27 |
SMART |
|
Pfam:7tm_2
|
831 |
1067 |
6.5e-68 |
PFAM |
|
Pfam:Latrophilin
|
1087 |
1158 |
9.9e-36 |
PFAM |
|
low complexity region
|
1163 |
1173 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000197521
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000197567
AA Change: I758S
PolyPhen 2
Score 0.941 (Sensitivity: 0.80; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000143626
Gene: ENSMUSG00000028184
AA Change: I758S
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
25 |
N/A |
INTRINSIC |
|
Pfam:Gal_Lectin
|
49 |
129 |
1.9e-26 |
PFAM |
|
OLF
|
142 |
398 |
5.22e-140 |
SMART |
|
HormR
|
469 |
534 |
3.14e-20 |
SMART |
|
Pfam:GAIN
|
537 |
764 |
1.1e-58 |
PFAM |
|
GPS
|
788 |
840 |
3.47e-25 |
SMART |
|
Pfam:7tm_2
|
848 |
1108 |
6.4e-69 |
PFAM |
|
Pfam:Latrophilin
|
1128 |
1487 |
2.8e-181 |
PFAM |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000197925
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000198779
AA Change: I758S
PolyPhen 2
Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000142347
Gene: ENSMUSG00000028184
AA Change: I758S
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
25 |
N/A |
INTRINSIC |
|
Pfam:Gal_Lectin
|
49 |
129 |
3.4e-23 |
PFAM |
|
OLF
|
142 |
398 |
3.3e-142 |
SMART |
|
HormR
|
469 |
534 |
2e-22 |
SMART |
|
GPS
|
788 |
840 |
2.1e-27 |
SMART |
|
Pfam:7tm_2
|
848 |
1084 |
1.8e-66 |
PFAM |
|
Pfam:Latrophilin
|
1104 |
1452 |
7e-174 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000200154
AA Change: I741S
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000142865
Gene: ENSMUSG00000028184
AA Change: I741S
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
25 |
N/A |
INTRINSIC |
|
Pfam:Gal_Lectin
|
49 |
129 |
2.5e-23 |
PFAM |
|
OLF
|
138 |
394 |
3.3e-142 |
SMART |
|
HormR
|
465 |
530 |
2e-22 |
SMART |
|
GPS
|
771 |
823 |
2.1e-27 |
SMART |
|
Pfam:7tm_2
|
831 |
1067 |
1.2e-66 |
PFAM |
|
Pfam:Latrophilin
|
1087 |
1123 |
2.2e-4 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000199238
AA Change: I758S
PolyPhen 2
Score 0.971 (Sensitivity: 0.77; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000142405
Gene: ENSMUSG00000028184
AA Change: I758S
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
25 |
N/A |
INTRINSIC |
|
Pfam:Gal_Lectin
|
49 |
129 |
3.4e-23 |
PFAM |
|
OLF
|
142 |
398 |
3.3e-142 |
SMART |
|
HormR
|
469 |
534 |
2e-22 |
SMART |
|
GPS
|
788 |
840 |
2.1e-27 |
SMART |
|
Pfam:7tm_2
|
848 |
1099 |
8.4e-66 |
PFAM |
|
Pfam:Latrophilin
|
1119 |
1478 |
1.6e-187 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000199059
AA Change: I758S
PolyPhen 2
Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000143150
Gene: ENSMUSG00000028184
AA Change: I758S
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
25 |
N/A |
INTRINSIC |
|
Pfam:Gal_Lectin
|
49 |
129 |
3.4e-23 |
PFAM |
|
OLF
|
142 |
398 |
3.3e-142 |
SMART |
|
HormR
|
469 |
534 |
2e-22 |
SMART |
|
GPS
|
788 |
840 |
2.1e-27 |
SMART |
|
Pfam:7tm_2
|
848 |
1099 |
8.3e-66 |
PFAM |
|
Pfam:Latrophilin
|
1119 |
1467 |
7.1e-174 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000200543
AA Change: I741S
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000142336
Gene: ENSMUSG00000028184
AA Change: I741S
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
25 |
N/A |
INTRINSIC |
|
Pfam:Gal_Lectin
|
49 |
129 |
3.2e-23 |
PFAM |
|
OLF
|
138 |
394 |
3.3e-142 |
SMART |
|
HormR
|
465 |
530 |
2e-22 |
SMART |
|
GPS
|
771 |
823 |
2.1e-27 |
SMART |
|
Pfam:7tm_2
|
831 |
1067 |
1.7e-66 |
PFAM |
|
Pfam:Latrophilin
|
1087 |
1157 |
2.1e-28 |
PFAM |
|
Pfam:Latrophilin
|
1152 |
1403 |
5.3e-123 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000199750
AA Change: I679S
PolyPhen 2
Score 0.206 (Sensitivity: 0.92; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000143320
Gene: ENSMUSG00000028184
AA Change: I679S
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
25 |
N/A |
INTRINSIC |
|
Pfam:Gal_Lectin
|
49 |
129 |
3.1e-23 |
PFAM |
|
OLF
|
142 |
398 |
3.3e-142 |
SMART |
|
HormR
|
403 |
468 |
1.9e-22 |
SMART |
|
GPS
|
709 |
761 |
2.1e-27 |
SMART |
|
Pfam:7tm_2
|
769 |
1005 |
1.6e-66 |
PFAM |
|
Pfam:Latrophilin
|
1025 |
1095 |
2e-28 |
PFAM |
|
Pfam:Latrophilin
|
1090 |
1341 |
4.9e-123 |
PFAM |
|
| Meta Mutation Damage Score |
0.9638 |
| Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.8%
- 10x: 97.3%
- 20x: 94.5%
|
| Validation Efficiency |
97% (110/113) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the latrophilin subfamily of G-protein coupled receptors. The encoded protein participates in the regulation of exocytosis. The proprotein is thought to be further cleaved within a cysteine-rich G-protein-coupled receptor proteolysis site into two chains that are non-covalently bound at the cell membrane. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2014]
PHENOTYPE: Homozygous null mice die prenatally at fetal stages. Heterozygous mice exhibit decreased locomotor activity in an open field test. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 110 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700029H14Rik |
T |
C |
8: 13,601,676 (GRCm39) |
D230G |
probably benign |
Het |
| Abhd13 |
A |
G |
8: 10,037,561 (GRCm39) |
I53V |
probably benign |
Het |
| Aldh16a1 |
G |
A |
7: 44,794,088 (GRCm39) |
A596V |
probably damaging |
Het |
| Aldh3b2 |
T |
A |
19: 4,029,414 (GRCm39) |
Y262* |
probably null |
Het |
| Ambn |
A |
G |
5: 88,615,831 (GRCm39) |
Q420R |
possibly damaging |
Het |
| Ankib1 |
A |
C |
5: 3,750,344 (GRCm39) |
|
probably benign |
Het |
| Arhgap9 |
C |
A |
10: 127,165,407 (GRCm39) |
H430Q |
probably benign |
Het |
| Arhgef25 |
C |
T |
10: 127,019,933 (GRCm39) |
G435E |
probably damaging |
Het |
| Armc12 |
A |
T |
17: 28,751,366 (GRCm39) |
D120V |
possibly damaging |
Het |
| Asxl3 |
G |
A |
18: 22,649,738 (GRCm39) |
E576K |
possibly damaging |
Het |
| Bcdin3d |
T |
C |
15: 99,368,776 (GRCm39) |
E141G |
probably benign |
Het |
| Bmpr1b |
G |
A |
3: 141,546,437 (GRCm39) |
T483M |
probably damaging |
Het |
| Caprin2 |
C |
T |
6: 148,744,452 (GRCm39) |
S991N |
probably damaging |
Het |
| Cd96 |
T |
C |
16: 45,892,129 (GRCm39) |
I286M |
possibly damaging |
Het |
| Cdcp1 |
G |
T |
9: 123,009,237 (GRCm39) |
F480L |
probably benign |
Het |
| Celf5 |
T |
C |
10: 81,300,243 (GRCm39) |
T258A |
probably benign |
Het |
| Cgnl1 |
A |
G |
9: 71,628,939 (GRCm39) |
V577A |
probably damaging |
Het |
| Clca3b |
A |
G |
3: 144,547,226 (GRCm39) |
S304P |
probably benign |
Het |
| Cmya5 |
A |
T |
13: 93,232,108 (GRCm39) |
H993Q |
probably benign |
Het |
| Cnbp |
A |
T |
6: 87,822,746 (GRCm39) |
C6S |
probably damaging |
Het |
| Col14a1 |
C |
T |
15: 55,360,907 (GRCm39) |
R1605W |
probably damaging |
Het |
| Cops7a |
T |
C |
6: 124,941,817 (GRCm39) |
N11S |
probably benign |
Het |
| Coro7 |
T |
C |
16: 4,448,042 (GRCm39) |
|
probably benign |
Het |
| Cpvl |
T |
C |
6: 53,909,485 (GRCm39) |
H217R |
possibly damaging |
Het |
| Cuedc1 |
T |
C |
11: 88,075,447 (GRCm39) |
|
probably benign |
Het |
| Cyp2c66 |
A |
G |
19: 39,130,369 (GRCm39) |
Y68C |
probably damaging |
Het |
| Dicer1 |
G |
A |
12: 104,668,710 (GRCm39) |
T1324M |
probably benign |
Het |
| Dlgap2 |
A |
G |
8: 14,777,562 (GRCm39) |
D268G |
probably benign |
Het |
| Dnm1 |
T |
A |
2: 32,207,001 (GRCm39) |
M535L |
possibly damaging |
Het |
| Dock7 |
A |
T |
4: 98,850,517 (GRCm39) |
F1575Y |
probably benign |
Het |
| Dpp10 |
T |
A |
1: 123,326,275 (GRCm39) |
H403L |
possibly damaging |
Het |
| Dync1h1 |
A |
G |
12: 110,616,285 (GRCm39) |
D3112G |
possibly damaging |
Het |
| Eno3 |
A |
G |
11: 70,548,761 (GRCm39) |
E21G |
probably null |
Het |
| Fam120b |
T |
A |
17: 15,643,186 (GRCm39) |
V655D |
probably damaging |
Het |
| Fkbp5 |
A |
T |
17: 28,647,426 (GRCm39) |
D136E |
probably benign |
Het |
| Gdap1l1 |
T |
A |
2: 163,289,573 (GRCm39) |
Y179* |
probably null |
Het |
| Gfer |
A |
G |
17: 24,913,277 (GRCm39) |
W192R |
probably damaging |
Het |
| Gm4782 |
A |
G |
6: 50,586,838 (GRCm39) |
T408A |
probably benign |
Het |
| Golgb1 |
C |
T |
16: 36,695,992 (GRCm39) |
Q164* |
probably null |
Het |
| Gpnmb |
A |
G |
6: 49,024,276 (GRCm39) |
N197S |
probably damaging |
Het |
| Gtf2f1 |
G |
A |
17: 57,310,802 (GRCm39) |
T414M |
probably benign |
Het |
| Hc |
A |
G |
2: 34,926,166 (GRCm39) |
|
probably benign |
Het |
| Hcfc1 |
A |
T |
X: 72,992,035 (GRCm39) |
|
probably benign |
Het |
| Helz2 |
C |
T |
2: 180,872,223 (GRCm39) |
R2539Q |
probably damaging |
Het |
| Hsd17b12 |
T |
A |
2: 93,988,160 (GRCm39) |
I19F |
probably benign |
Het |
| Incenp |
T |
C |
19: 9,871,114 (GRCm39) |
T172A |
unknown |
Het |
| Jmy |
A |
G |
13: 93,578,126 (GRCm39) |
Y681H |
probably benign |
Het |
| Kbtbd11 |
A |
G |
8: 15,077,508 (GRCm39) |
T36A |
probably benign |
Het |
| Kcnh4 |
T |
C |
11: 100,646,525 (GRCm39) |
D267G |
probably damaging |
Het |
| Krt34 |
C |
T |
11: 99,932,157 (GRCm39) |
E56K |
probably damaging |
Het |
| Krt40 |
T |
A |
11: 99,429,568 (GRCm39) |
E335D |
probably damaging |
Het |
| Krt86 |
T |
A |
15: 101,374,454 (GRCm39) |
Y282* |
probably null |
Het |
| Lgi3 |
C |
T |
14: 70,772,255 (GRCm39) |
R267* |
probably null |
Het |
| Lnpk |
A |
G |
2: 74,367,633 (GRCm39) |
|
probably benign |
Het |
| Lrp1b |
T |
A |
2: 40,888,195 (GRCm39) |
H2355L |
probably benign |
Het |
| Lrrc8e |
G |
A |
8: 4,285,401 (GRCm39) |
R542H |
probably benign |
Het |
| Mia2 |
T |
C |
12: 59,155,642 (GRCm39) |
Y452H |
probably damaging |
Het |
| Mmachc |
C |
T |
4: 116,561,738 (GRCm39) |
R132Q |
probably damaging |
Het |
| Mtbp |
T |
A |
15: 55,440,882 (GRCm39) |
N356K |
possibly damaging |
Het |
| Myo5b |
A |
G |
18: 74,794,787 (GRCm39) |
H552R |
possibly damaging |
Het |
| Niban1 |
A |
G |
1: 151,593,967 (GRCm39) |
D884G |
probably benign |
Het |
| Noxred1 |
A |
G |
12: 87,273,753 (GRCm39) |
V96A |
probably benign |
Het |
| Nr1d2 |
T |
A |
14: 18,211,933 (GRCm38) |
D390V |
possibly damaging |
Het |
| Oas1e |
A |
T |
5: 120,929,839 (GRCm39) |
|
probably benign |
Het |
| Odad2 |
A |
T |
18: 7,211,516 (GRCm39) |
V786D |
probably damaging |
Het |
| Or1r1 |
T |
C |
11: 73,874,538 (GRCm39) |
S299G |
probably benign |
Het |
| Or6c1b |
T |
A |
10: 129,273,217 (GRCm39) |
Y179N |
probably damaging |
Het |
| Otog |
G |
T |
7: 45,916,805 (GRCm39) |
C914F |
probably damaging |
Het |
| Pank2 |
G |
T |
2: 131,122,117 (GRCm39) |
C214F |
probably damaging |
Het |
| Pcdhb1 |
T |
A |
18: 37,399,788 (GRCm39) |
S580T |
probably benign |
Het |
| Pdia3 |
T |
C |
2: 121,244,592 (GRCm39) |
S2P |
probably damaging |
Het |
| Peli1 |
G |
T |
11: 21,092,602 (GRCm39) |
R83L |
probably damaging |
Het |
| Pla2g3 |
T |
A |
11: 3,441,935 (GRCm39) |
C366* |
probably null |
Het |
| Pon3 |
T |
A |
6: 5,240,860 (GRCm39) |
D107V |
probably benign |
Het |
| Ppip5k2 |
A |
G |
1: 97,668,816 (GRCm39) |
C532R |
probably damaging |
Het |
| Prph |
A |
T |
15: 98,953,608 (GRCm39) |
D174V |
probably damaging |
Het |
| Psd3 |
A |
G |
8: 68,210,738 (GRCm39) |
M270T |
probably damaging |
Het |
| Pum3 |
A |
G |
19: 27,400,155 (GRCm39) |
|
probably benign |
Het |
| Pus1 |
A |
T |
5: 110,927,664 (GRCm39) |
H30Q |
probably benign |
Het |
| Pwwp3a |
T |
C |
10: 80,070,092 (GRCm39) |
S354P |
probably benign |
Het |
| Rab7 |
A |
T |
6: 87,982,114 (GRCm39) |
V87E |
probably damaging |
Het |
| Rbm5 |
A |
T |
9: 107,628,907 (GRCm39) |
|
probably benign |
Het |
| Reln |
A |
G |
5: 22,147,595 (GRCm39) |
|
probably null |
Het |
| S1pr3 |
A |
G |
13: 51,572,938 (GRCm39) |
T40A |
probably benign |
Het |
| Sdk1 |
T |
A |
5: 142,129,677 (GRCm39) |
|
probably benign |
Het |
| Senp7 |
T |
A |
16: 55,999,884 (GRCm39) |
I853N |
probably damaging |
Het |
| Serpinb6c |
T |
A |
13: 34,083,230 (GRCm39) |
|
probably benign |
Het |
| Shroom1 |
T |
G |
11: 53,356,312 (GRCm39) |
|
probably null |
Het |
| Slc24a3 |
T |
C |
2: 145,448,584 (GRCm39) |
I376T |
probably benign |
Het |
| Slc46a1 |
T |
C |
11: 78,359,493 (GRCm39) |
I375T |
possibly damaging |
Het |
| Slc4a9 |
T |
C |
18: 36,666,733 (GRCm39) |
F527S |
probably damaging |
Het |
| Slc4a9 |
T |
A |
18: 36,674,286 (GRCm39) |
I924N |
probably damaging |
Het |
| Slx4 |
T |
A |
16: 3,804,816 (GRCm39) |
E666V |
probably damaging |
Het |
| Snrnp27 |
G |
A |
6: 86,652,575 (GRCm39) |
|
probably benign |
Het |
| Sorcs1 |
C |
T |
19: 50,216,659 (GRCm39) |
G640E |
probably damaging |
Het |
| Spmap2l |
G |
T |
5: 77,164,152 (GRCm39) |
E52* |
probably null |
Het |
| Sptan1 |
A |
T |
2: 29,908,413 (GRCm39) |
M1725L |
probably benign |
Het |
| Sync |
G |
A |
4: 129,187,514 (GRCm39) |
R182K |
probably damaging |
Het |
| Syne2 |
G |
A |
12: 76,144,808 (GRCm39) |
G1586S |
probably damaging |
Het |
| Sytl1 |
G |
T |
4: 132,980,768 (GRCm39) |
T522K |
probably damaging |
Het |
| Tex2 |
T |
A |
11: 106,410,781 (GRCm39) |
K414* |
probably null |
Het |
| Tex55 |
C |
T |
16: 38,644,929 (GRCm39) |
|
probably benign |
Het |
| Thsd7a |
G |
A |
6: 12,503,915 (GRCm39) |
T413I |
probably benign |
Het |
| Tm9sf1 |
C |
T |
14: 55,875,392 (GRCm39) |
A451T |
possibly damaging |
Het |
| Ttn |
A |
T |
2: 76,656,496 (GRCm39) |
|
probably benign |
Het |
| Uba2 |
T |
C |
7: 33,854,054 (GRCm39) |
I140V |
possibly damaging |
Het |
| Ushbp1 |
C |
A |
8: 71,842,762 (GRCm39) |
G361* |
probably null |
Het |
| Wbp2nl |
C |
T |
15: 82,197,988 (GRCm39) |
A175V |
probably benign |
Het |
| Zc3h12d |
A |
G |
10: 7,738,330 (GRCm39) |
E212G |
probably damaging |
Het |
| Zc3h7b |
T |
C |
15: 81,653,031 (GRCm39) |
|
probably benign |
Het |
|
| Other mutations in Adgrl2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00426:Adgrl2
|
APN |
3 |
148,571,244 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL00572:Adgrl2
|
APN |
3 |
148,532,134 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01624:Adgrl2
|
APN |
3 |
148,542,163 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01796:Adgrl2
|
APN |
3 |
148,564,611 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02380:Adgrl2
|
APN |
3 |
148,534,125 (GRCm39) |
nonsense |
probably null |
|
|
IGL02468:Adgrl2
|
APN |
3 |
148,596,116 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02708:Adgrl2
|
APN |
3 |
148,532,161 (GRCm39) |
missense |
probably damaging |
0.96 |
|
IGL02869:Adgrl2
|
APN |
3 |
148,596,241 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03248:Adgrl2
|
APN |
3 |
148,523,036 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03343:Adgrl2
|
APN |
3 |
148,565,016 (GRCm39) |
missense |
probably damaging |
0.98 |
|
P0157:Adgrl2
|
UTSW |
3 |
148,564,699 (GRCm39) |
missense |
probably damaging |
1.00 |
|
PIT4382001:Adgrl2
|
UTSW |
3 |
148,522,934 (GRCm39) |
missense |
|
|
|
PIT4544001:Adgrl2
|
UTSW |
3 |
148,596,157 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0165:Adgrl2
|
UTSW |
3 |
148,558,499 (GRCm39) |
splice site |
probably benign |
|
|
R0242:Adgrl2
|
UTSW |
3 |
148,544,821 (GRCm39) |
splice site |
probably null |
|
|
R0344:Adgrl2
|
UTSW |
3 |
148,571,231 (GRCm39) |
splice site |
probably null |
|
|
R0488:Adgrl2
|
UTSW |
3 |
148,552,541 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0542:Adgrl2
|
UTSW |
3 |
148,564,854 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0630:Adgrl2
|
UTSW |
3 |
148,544,880 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R0674:Adgrl2
|
UTSW |
3 |
148,543,315 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R1401:Adgrl2
|
UTSW |
3 |
148,528,617 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1543:Adgrl2
|
UTSW |
3 |
148,564,909 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1575:Adgrl2
|
UTSW |
3 |
148,558,398 (GRCm39) |
missense |
probably benign |
0.17 |
|
R1645:Adgrl2
|
UTSW |
3 |
148,571,244 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1780:Adgrl2
|
UTSW |
3 |
148,558,229 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1992:Adgrl2
|
UTSW |
3 |
148,522,880 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R2014:Adgrl2
|
UTSW |
3 |
148,532,111 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2130:Adgrl2
|
UTSW |
3 |
148,596,124 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2131:Adgrl2
|
UTSW |
3 |
148,596,124 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2400:Adgrl2
|
UTSW |
3 |
148,557,570 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2997:Adgrl2
|
UTSW |
3 |
148,523,285 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3161:Adgrl2
|
UTSW |
3 |
148,523,187 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3416:Adgrl2
|
UTSW |
3 |
148,564,965 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3417:Adgrl2
|
UTSW |
3 |
148,564,965 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3551:Adgrl2
|
UTSW |
3 |
148,564,599 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3760:Adgrl2
|
UTSW |
3 |
148,522,871 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4355:Adgrl2
|
UTSW |
3 |
148,544,788 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4850:Adgrl2
|
UTSW |
3 |
148,564,656 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4911:Adgrl2
|
UTSW |
3 |
148,596,099 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4945:Adgrl2
|
UTSW |
3 |
148,528,672 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5313:Adgrl2
|
UTSW |
3 |
148,529,349 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5339:Adgrl2
|
UTSW |
3 |
148,523,480 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5540:Adgrl2
|
UTSW |
3 |
148,543,198 (GRCm39) |
critical splice donor site |
probably null |
|
|
R5583:Adgrl2
|
UTSW |
3 |
148,564,800 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5890:Adgrl2
|
UTSW |
3 |
148,564,811 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6170:Adgrl2
|
UTSW |
3 |
148,528,645 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6197:Adgrl2
|
UTSW |
3 |
148,564,578 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6284:Adgrl2
|
UTSW |
3 |
148,532,143 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6877:Adgrl2
|
UTSW |
3 |
148,522,922 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7048:Adgrl2
|
UTSW |
3 |
148,552,565 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7205:Adgrl2
|
UTSW |
3 |
148,564,585 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7326:Adgrl2
|
UTSW |
3 |
148,552,506 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7348:Adgrl2
|
UTSW |
3 |
148,523,402 (GRCm39) |
missense |
|
|
|
R7382:Adgrl2
|
UTSW |
3 |
148,522,919 (GRCm39) |
missense |
|
|
|
R7486:Adgrl2
|
UTSW |
3 |
148,523,330 (GRCm39) |
missense |
|
|
|
R7498:Adgrl2
|
UTSW |
3 |
148,564,852 (GRCm39) |
nonsense |
probably null |
|
|
R7644:Adgrl2
|
UTSW |
3 |
148,544,789 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7690:Adgrl2
|
UTSW |
3 |
148,522,934 (GRCm39) |
missense |
|
|
|
R7742:Adgrl2
|
UTSW |
3 |
148,542,064 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7745:Adgrl2
|
UTSW |
3 |
148,542,094 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8291:Adgrl2
|
UTSW |
3 |
148,556,554 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R8326:Adgrl2
|
UTSW |
3 |
148,533,190 (GRCm39) |
missense |
|
|
|
R8343:Adgrl2
|
UTSW |
3 |
148,552,542 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8344:Adgrl2
|
UTSW |
3 |
148,565,161 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R8487:Adgrl2
|
UTSW |
3 |
148,565,122 (GRCm39) |
missense |
probably benign |
0.06 |
|
R8748:Adgrl2
|
UTSW |
3 |
148,532,026 (GRCm39) |
missense |
|
|
|
R8769:Adgrl2
|
UTSW |
3 |
148,522,917 (GRCm39) |
missense |
|
|
|
R8804:Adgrl2
|
UTSW |
3 |
148,552,652 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8911:Adgrl2
|
UTSW |
3 |
148,558,163 (GRCm39) |
intron |
probably benign |
|
|
R8943:Adgrl2
|
UTSW |
3 |
148,534,119 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8977:Adgrl2
|
UTSW |
3 |
148,660,223 (GRCm39) |
missense |
probably null |
|
|
R9030:Adgrl2
|
UTSW |
3 |
148,544,761 (GRCm39) |
missense |
possibly damaging |
0.74 |
|
R9105:Adgrl2
|
UTSW |
3 |
148,543,289 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R9427:Adgrl2
|
UTSW |
3 |
148,526,068 (GRCm39) |
missense |
|
|
|
R9471:Adgrl2
|
UTSW |
3 |
148,558,365 (GRCm39) |
missense |
probably benign |
|
|
R9646:Adgrl2
|
UTSW |
3 |
148,544,926 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R9742:Adgrl2
|
UTSW |
3 |
148,541,986 (GRCm39) |
critical splice donor site |
probably null |
|
|
RF007:Adgrl2
|
UTSW |
3 |
148,544,884 (GRCm39) |
missense |
probably damaging |
1.00 |
|
X0009:Adgrl2
|
UTSW |
3 |
148,558,290 (GRCm39) |
missense |
probably damaging |
1.00 |
|
X0019:Adgrl2
|
UTSW |
3 |
148,571,230 (GRCm39) |
splice site |
probably null |
|
|
| Predicted Primers |
PCR Primer
(F):5'- AAACTTGTGTCTCTGACCCAGCCC -3'
(R):5'- TCTTTCATCCCGAGCAATGGTGTG -3'
Sequencing Primer
(F):5'- AGGTCTTCTCCCACCCAGG -3'
(R):5'- AGCAATGGTGTGGTGAGTCC -3'
|
| Posted On |
2013-07-11 |
Incidental Mutation