Incidental Mutation 'R2014:Adgrl2'
ID |
222524 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Adgrl2
|
Ensembl Gene |
ENSMUSG00000028184 |
Gene Name |
adhesion G protein-coupled receptor L2 |
Synonyms |
Lphn2, Lphh1, Lec1 |
MMRRC Submission |
040023-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R2014 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
3 |
Chromosomal Location |
148521219-148696191 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 148532111 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glycine to Arginine
at position 1041
(G1041R)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000142336
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000106128]
[ENSMUST00000168352]
[ENSMUST00000195988]
[ENSMUST00000196526]
[ENSMUST00000200543]
[ENSMUST00000198779]
[ENSMUST00000199059]
[ENSMUST00000199238]
[ENSMUST00000200154]
[ENSMUST00000197567]
[ENSMUST00000199750]
|
AlphaFold |
Q8JZZ7 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000106128
AA Change: G1082R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000101734 Gene: ENSMUSG00000028184 AA Change: G1082R
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 benign
Transcript: ENSMUST00000168352
|
SMART Domains |
Protein: ENSMUSP00000132116 Gene: ENSMUSG00000028184
Domain | Start | End | E-Value | Type |
Pfam:Latrophilin
|
1 |
239 |
2.5e-122 |
PFAM |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000195988
AA Change: G1073R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000143444 Gene: ENSMUSG00000028184 AA Change: G1073R
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: G1041R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000143788 Gene: ENSMUSG00000028184 AA Change: G1041R
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 |
unknown
Transcript: ENSMUST00000197348
AA Change: G73R
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000197521
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000200543
AA Change: G1041R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000142336 Gene: ENSMUSG00000028184 AA Change: G1041R
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 damaging
Transcript: ENSMUST00000198779
AA Change: G1058R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000142347 Gene: ENSMUSG00000028184 AA Change: G1058R
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: ENSMUST00000199059
AA Change: G1073R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000143150 Gene: ENSMUSG00000028184 AA Change: G1073R
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: ENSMUST00000199238
AA Change: G1073R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000142405 Gene: ENSMUSG00000028184 AA Change: G1073R
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: ENSMUST00000200154
AA Change: G1041R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000142865 Gene: ENSMUSG00000028184 AA Change: G1041R
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: ENSMUST00000197567
AA Change: G1082R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000143626 Gene: ENSMUSG00000028184 AA Change: G1082R
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 benign
Transcript: ENSMUST00000199750
AA Change: G979R
PolyPhen 2
Score 0.073 (Sensitivity: 0.93; Specificity: 0.84)
|
SMART Domains |
Protein: ENSMUSP00000143320 Gene: ENSMUSG00000028184 AA Change: G979R
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 |
|
Predicted Effect |
unknown
Transcript: ENSMUST00000197925
AA Change: G102R
|
Predicted Effect |
unknown
Transcript: ENSMUST00000198139
AA Change: G59R
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000200023
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000200456
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000200216
|
Meta Mutation Damage Score |
0.8177 |
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 96.8%
- 20x: 93.9%
|
Validation Efficiency |
96% (105/109) |
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: 108 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700122O11Rik |
T |
G |
17: 48,347,723 (GRCm39) |
T194P |
possibly damaging |
Het |
Aadacl4fm5 |
A |
T |
4: 144,506,295 (GRCm39) |
L132Q |
probably damaging |
Het |
Acsbg2 |
T |
A |
17: 57,160,855 (GRCm39) |
K263M |
possibly damaging |
Het |
Adcy8 |
C |
T |
15: 64,639,727 (GRCm39) |
G678S |
probably benign |
Het |
Ahnak |
T |
C |
19: 8,990,545 (GRCm39) |
I3943T |
probably damaging |
Het |
Aire |
T |
C |
10: 77,878,792 (GRCm39) |
D85G |
probably damaging |
Het |
Alkbh8 |
C |
T |
9: 3,343,216 (GRCm39) |
Q36* |
probably null |
Het |
Amer3 |
T |
C |
1: 34,618,525 (GRCm39) |
|
probably benign |
Het |
Angptl8 |
T |
C |
9: 21,748,358 (GRCm39) |
|
probably null |
Het |
Ankmy1 |
T |
C |
1: 92,812,863 (GRCm39) |
D482G |
probably benign |
Het |
Apc |
A |
G |
18: 34,448,644 (GRCm39) |
I1813V |
probably damaging |
Het |
Asb13 |
T |
G |
13: 3,699,512 (GRCm39) |
|
probably null |
Het |
Blm |
T |
C |
7: 80,152,147 (GRCm39) |
E600G |
probably damaging |
Het |
Cd163 |
G |
T |
6: 124,302,457 (GRCm39) |
W1007L |
probably damaging |
Het |
Cdr1 |
A |
G |
X: 60,228,420 (GRCm39) |
F249L |
probably benign |
Het |
Cp |
A |
G |
3: 20,041,598 (GRCm39) |
K44E |
probably benign |
Het |
Crtap |
C |
A |
9: 114,210,653 (GRCm39) |
|
probably null |
Het |
Ctsk |
A |
G |
3: 95,414,003 (GRCm39) |
D250G |
probably damaging |
Het |
Dcp2 |
T |
C |
18: 44,543,363 (GRCm39) |
V307A |
probably benign |
Het |
Dnah6 |
T |
A |
6: 73,150,402 (GRCm39) |
D787V |
probably damaging |
Het |
Dtx3l |
G |
A |
16: 35,756,797 (GRCm39) |
H129Y |
probably benign |
Het |
Ece2 |
A |
G |
16: 20,461,067 (GRCm39) |
T442A |
probably benign |
Het |
Espl1 |
C |
T |
15: 102,231,149 (GRCm39) |
R17* |
probably null |
Het |
Espn |
G |
T |
4: 152,217,416 (GRCm39) |
|
probably null |
Het |
Fam20b |
C |
T |
1: 156,533,511 (GRCm39) |
R35Q |
possibly damaging |
Het |
Fga |
A |
G |
3: 82,940,064 (GRCm39) |
I573V |
probably damaging |
Het |
Fmo5 |
A |
G |
3: 97,542,998 (GRCm39) |
K103E |
possibly damaging |
Het |
Frem1 |
A |
T |
4: 82,924,089 (GRCm39) |
V291D |
probably damaging |
Het |
Gabbr1 |
A |
G |
17: 37,367,674 (GRCm39) |
|
probably null |
Het |
Gjb6 |
T |
C |
14: 57,362,213 (GRCm39) |
H16R |
probably damaging |
Het |
Grina |
T |
C |
15: 76,132,734 (GRCm39) |
V167A |
probably damaging |
Het |
Gulo |
T |
A |
14: 66,246,496 (GRCm39) |
M1L |
probably benign |
Het |
Hcfc2 |
A |
G |
10: 82,574,814 (GRCm39) |
N618D |
probably benign |
Het |
Heatr5b |
T |
C |
17: 79,121,613 (GRCm39) |
D704G |
probably damaging |
Het |
Hlcs |
A |
G |
16: 94,063,599 (GRCm39) |
V487A |
probably benign |
Het |
Hps1 |
G |
A |
19: 42,750,951 (GRCm39) |
P350S |
probably benign |
Het |
Hspa9 |
A |
T |
18: 35,079,701 (GRCm39) |
Y243N |
probably damaging |
Het |
Igll1 |
A |
G |
16: 16,681,639 (GRCm39) |
S39P |
probably benign |
Het |
Kif21b |
T |
C |
1: 136,076,020 (GRCm39) |
F270L |
probably damaging |
Het |
Kirrel1 |
C |
T |
3: 86,996,458 (GRCm39) |
M380I |
probably null |
Het |
Krt27 |
A |
G |
11: 99,240,318 (GRCm39) |
V200A |
probably benign |
Het |
Lama3 |
T |
C |
18: 12,657,778 (GRCm39) |
|
probably benign |
Het |
Lmcd1 |
T |
C |
6: 112,305,702 (GRCm39) |
W268R |
probably damaging |
Het |
Lmo2 |
T |
C |
2: 103,811,407 (GRCm39) |
Y147H |
probably damaging |
Het |
Mamdc4 |
T |
A |
2: 25,453,584 (GRCm39) |
D1195V |
probably damaging |
Het |
Map2 |
T |
C |
1: 66,455,295 (GRCm39) |
V1395A |
possibly damaging |
Het |
Map3k20 |
C |
T |
2: 72,268,604 (GRCm39) |
T537M |
probably benign |
Het |
Mdga1 |
A |
G |
17: 30,068,287 (GRCm39) |
S276P |
probably damaging |
Het |
Mep1a |
T |
C |
17: 43,808,797 (GRCm39) |
N85D |
probably benign |
Het |
Mettl16 |
A |
G |
11: 74,708,195 (GRCm39) |
S425G |
probably benign |
Het |
Mthfd1l |
A |
G |
10: 3,997,894 (GRCm39) |
T622A |
probably benign |
Het |
Nbeal2 |
G |
A |
9: 110,463,139 (GRCm39) |
L1309F |
probably benign |
Het |
Nde1 |
A |
T |
16: 13,987,321 (GRCm39) |
|
probably benign |
Het |
Nhsl1 |
A |
T |
10: 18,387,340 (GRCm39) |
R205W |
probably damaging |
Het |
Nlrc5 |
A |
G |
8: 95,252,138 (GRCm39) |
|
probably benign |
Het |
Notch3 |
C |
A |
17: 32,376,974 (GRCm39) |
E310D |
probably benign |
Het |
Or2f1 |
A |
G |
6: 42,721,784 (GRCm39) |
E271G |
probably damaging |
Het |
Or4p19 |
T |
C |
2: 88,242,388 (GRCm39) |
T205A |
probably benign |
Het |
Or5ak24 |
T |
A |
2: 85,260,696 (GRCm39) |
H159L |
possibly damaging |
Het |
Or7a39 |
T |
C |
10: 78,715,222 (GRCm39) |
I72T |
possibly damaging |
Het |
Osbpl5 |
C |
A |
7: 143,295,429 (GRCm39) |
C11F |
probably damaging |
Het |
P4hb |
T |
C |
11: 120,453,522 (GRCm39) |
E381G |
probably damaging |
Het |
Pax4 |
A |
G |
6: 28,446,209 (GRCm39) |
Y95H |
probably benign |
Het |
Pdia3 |
T |
C |
2: 121,265,301 (GRCm39) |
V390A |
probably damaging |
Het |
Pigv |
A |
C |
4: 133,390,034 (GRCm39) |
D49E |
possibly damaging |
Het |
Pik3c2a |
T |
A |
7: 115,950,166 (GRCm39) |
|
probably null |
Het |
Plxnb1 |
T |
A |
9: 108,935,687 (GRCm39) |
|
probably benign |
Het |
Polq |
A |
G |
16: 36,898,728 (GRCm39) |
T2163A |
probably damaging |
Het |
Pou5f2 |
T |
C |
13: 78,173,972 (GRCm39) |
S305P |
probably benign |
Het |
Ppm1h |
A |
T |
10: 122,756,630 (GRCm39) |
H425L |
possibly damaging |
Het |
Ppp1r13b |
G |
T |
12: 111,800,222 (GRCm39) |
D518E |
probably benign |
Het |
Prf1 |
A |
T |
10: 61,139,674 (GRCm39) |
D544V |
probably benign |
Het |
Prl3b1 |
T |
C |
13: 27,431,948 (GRCm39) |
F158L |
probably benign |
Het |
Prss41 |
C |
T |
17: 24,056,464 (GRCm39) |
|
probably null |
Het |
Prune2 |
T |
G |
19: 17,097,887 (GRCm39) |
N1130K |
probably damaging |
Het |
Ptgdr2 |
T |
C |
19: 10,917,789 (GRCm39) |
F102S |
probably damaging |
Het |
Ptprq |
T |
G |
10: 107,503,283 (GRCm39) |
K792Q |
probably damaging |
Het |
Pttg1ip2 |
T |
A |
5: 5,505,964 (GRCm39) |
I106L |
probably benign |
Het |
Rcbtb2 |
T |
C |
14: 73,411,826 (GRCm39) |
|
probably benign |
Het |
Rgs14 |
C |
A |
13: 55,531,513 (GRCm39) |
S479* |
probably null |
Het |
Sash1 |
A |
T |
10: 8,605,177 (GRCm39) |
V1071D |
probably benign |
Het |
Sdsl |
G |
A |
5: 120,601,218 (GRCm39) |
T18M |
probably damaging |
Het |
Sepsecs |
T |
A |
5: 52,804,966 (GRCm39) |
Q365L |
probably benign |
Het |
Sh2d4a |
A |
T |
8: 68,783,735 (GRCm39) |
Q223L |
probably damaging |
Het |
Slc14a2 |
T |
C |
18: 78,193,601 (GRCm39) |
|
probably benign |
Het |
Slc5a9 |
A |
C |
4: 111,753,546 (GRCm39) |
S52A |
possibly damaging |
Het |
Slc6a18 |
C |
A |
13: 73,823,844 (GRCm39) |
V99L |
probably benign |
Het |
Smarca2 |
T |
C |
19: 26,661,305 (GRCm39) |
S967P |
possibly damaging |
Het |
Tbc1d22a |
C |
T |
15: 86,183,885 (GRCm39) |
T248M |
probably damaging |
Het |
Tcte1 |
A |
T |
17: 45,852,237 (GRCm39) |
N490I |
probably benign |
Het |
Tet3 |
T |
C |
6: 83,363,057 (GRCm39) |
E705G |
probably damaging |
Het |
Tfeb |
T |
A |
17: 48,102,484 (GRCm39) |
H450Q |
probably damaging |
Het |
Tmem248 |
G |
A |
5: 130,260,653 (GRCm39) |
E73K |
probably damaging |
Het |
Trip12 |
A |
T |
1: 84,738,587 (GRCm39) |
L756* |
probably null |
Het |
Try5 |
C |
T |
6: 41,291,585 (GRCm39) |
|
probably null |
Het |
Tsc1 |
A |
T |
2: 28,555,649 (GRCm39) |
|
probably benign |
Het |
Tspear |
G |
A |
10: 77,710,954 (GRCm39) |
|
probably benign |
Het |
Ttc6 |
T |
C |
12: 57,623,003 (GRCm39) |
I134T |
possibly damaging |
Het |
Ttn |
T |
A |
2: 76,585,640 (GRCm39) |
|
probably null |
Het |
Ube3b |
A |
G |
5: 114,549,210 (GRCm39) |
E738G |
probably damaging |
Het |
Usp36 |
T |
C |
11: 118,153,334 (GRCm39) |
|
probably benign |
Het |
Vmn2r71 |
T |
A |
7: 85,269,845 (GRCm39) |
M452K |
probably benign |
Het |
Vps13b |
T |
C |
15: 35,607,288 (GRCm39) |
S1074P |
probably damaging |
Het |
Vps13d |
A |
G |
4: 144,835,078 (GRCm39) |
S2757P |
probably damaging |
Het |
Vwde |
C |
A |
6: 13,208,337 (GRCm39) |
G182C |
possibly damaging |
Het |
Wdr33 |
T |
C |
18: 31,966,652 (GRCm39) |
V164A |
probably damaging |
Het |
Zkscan16 |
A |
G |
4: 58,956,525 (GRCm39) |
Y269C |
possibly damaging |
Het |
Zup1 |
A |
G |
10: 33,805,820 (GRCm39) |
V437A |
possibly damaging |
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 |
|
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 |
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'- TATGAACAAGCCAGCTTCAGGAG -3'
(R):5'- GCCAAAAGCTGTTGAATTTGGG -3'
Sequencing Primer
(F):5'- GCCAGCTTCAGGAGAAATCTTC -3'
(R):5'- CCAAAAGCTGTTGAATTTGGGTGAAC -3'
|
Posted On |
2014-08-25 |