Incidental Mutation 'R5510:Adgrl4'
ID |
431129 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Adgrl4
|
Ensembl Gene |
ENSMUSG00000039167 |
Gene Name |
adhesion G protein-coupled receptor L4 |
Synonyms |
EGF-TM7 receptor, Eltd1, 1110033N21Rik, Etl |
MMRRC Submission |
043071-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R5510 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
3 |
Chromosomal Location |
151143519-151250718 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to G
at 151203467 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Arginine
at position 59
(I59R)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000143744
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000046977]
[ENSMUST00000196970]
|
AlphaFold |
Q923X1 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000046977
AA Change: I109R
PolyPhen 2
Score 0.586 (Sensitivity: 0.88; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000041939 Gene: ENSMUSG00000039167 AA Change: I109R
Domain | Start | End | E-Value | Type |
EGF
|
21 |
57 |
9.13e0 |
SMART |
EGF_CA
|
58 |
107 |
4.88e-9 |
SMART |
EGF_CA
|
108 |
157 |
4.88e-9 |
SMART |
Pfam:GAIN
|
182 |
390 |
6.8e-38 |
PFAM |
GPS
|
414 |
467 |
1.25e-17 |
SMART |
Pfam:7tm_2
|
473 |
709 |
2.5e-58 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000129283
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000141038
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000155652
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000196970
AA Change: I59R
PolyPhen 2
Score 0.886 (Sensitivity: 0.82; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000143744 Gene: ENSMUSG00000039167 AA Change: I59R
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
19 |
N/A |
INTRINSIC |
EGF
|
21 |
57 |
4.5e-2 |
SMART |
EGF_CA
|
58 |
107 |
2.5e-11 |
SMART |
|
Meta Mutation Damage Score |
0.1795 |
Coding Region Coverage |
- 1x: 98.5%
- 3x: 97.3%
- 10x: 95.1%
- 20x: 90.1%
|
Validation Efficiency |
99% (91/92) |
MGI Phenotype |
PHENOTYPE: For a targeted mutation, no significant differences were detected between homozygous mice and controls in a high-throughput screen. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 73 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adgrv1 |
T |
A |
13: 81,593,363 (GRCm39) |
D4208V |
probably damaging |
Het |
Aimp2 |
A |
T |
5: 143,843,347 (GRCm39) |
|
probably benign |
Het |
Ank3 |
G |
A |
10: 69,838,395 (GRCm39) |
R1566K |
possibly damaging |
Het |
Ankib1 |
A |
G |
5: 3,779,693 (GRCm39) |
V392A |
probably benign |
Het |
Ap2b1 |
A |
G |
11: 83,227,563 (GRCm39) |
|
probably null |
Het |
Arsg |
A |
G |
11: 109,418,700 (GRCm39) |
E232G |
probably benign |
Het |
Axdnd1 |
A |
G |
1: 156,162,920 (GRCm39) |
F144S |
probably benign |
Het |
Bud13 |
T |
A |
9: 46,203,498 (GRCm39) |
M111K |
probably damaging |
Het |
Cav2 |
T |
C |
6: 17,287,012 (GRCm39) |
F152S |
possibly damaging |
Het |
Ccdc180 |
A |
G |
4: 45,928,046 (GRCm39) |
T1194A |
probably damaging |
Het |
Ccdc192 |
G |
A |
18: 57,671,156 (GRCm39) |
|
probably null |
Het |
Ccdc88c |
T |
C |
12: 100,911,290 (GRCm39) |
K848R |
probably damaging |
Het |
Ceacam15 |
A |
G |
7: 16,406,024 (GRCm39) |
W176R |
probably damaging |
Het |
Cenpf |
A |
T |
1: 189,415,100 (GRCm39) |
D136E |
probably benign |
Het |
Dclk2 |
T |
C |
3: 86,813,344 (GRCm39) |
I201V |
possibly damaging |
Het |
Defa24 |
T |
A |
8: 22,224,612 (GRCm39) |
D20E |
probably damaging |
Het |
Dgcr8 |
T |
C |
16: 18,095,039 (GRCm39) |
N566D |
probably damaging |
Het |
Dido1 |
C |
A |
2: 180,326,966 (GRCm39) |
V386L |
probably benign |
Het |
Dnah2 |
C |
T |
11: 69,349,746 (GRCm39) |
R2399Q |
probably benign |
Het |
Dtx3 |
G |
A |
10: 127,028,807 (GRCm39) |
P141S |
probably benign |
Het |
Fmn1 |
T |
C |
2: 113,426,714 (GRCm39) |
Y1144H |
probably damaging |
Het |
Gabbr2 |
A |
G |
4: 46,734,113 (GRCm39) |
L535P |
probably damaging |
Het |
Gimap3 |
T |
A |
6: 48,742,183 (GRCm39) |
E249V |
possibly damaging |
Het |
Git2 |
A |
T |
5: 114,881,835 (GRCm39) |
|
probably null |
Het |
Gm4922 |
T |
C |
10: 18,659,745 (GRCm39) |
T326A |
probably benign |
Het |
Gsdmc2 |
T |
G |
15: 63,700,045 (GRCm39) |
E242D |
probably benign |
Het |
Hdgfl2 |
G |
A |
17: 56,389,118 (GRCm39) |
G31S |
possibly damaging |
Het |
Herc2 |
A |
T |
7: 55,856,519 (GRCm39) |
I3956F |
probably damaging |
Het |
Hsf2bp |
G |
A |
17: 32,165,721 (GRCm39) |
R134C |
unknown |
Het |
Igf1r |
G |
C |
7: 67,843,107 (GRCm39) |
R739S |
probably benign |
Het |
Igkv4-51 |
T |
C |
6: 69,658,443 (GRCm39) |
E102G |
probably damaging |
Het |
Kif1a |
T |
G |
1: 92,969,414 (GRCm39) |
I1156L |
possibly damaging |
Het |
Kti12 |
T |
C |
4: 108,705,821 (GRCm39) |
L245S |
probably damaging |
Het |
Med17 |
A |
G |
9: 15,181,700 (GRCm39) |
S17P |
probably benign |
Het |
Mllt6 |
G |
A |
11: 97,560,326 (GRCm39) |
S210N |
possibly damaging |
Het |
Mrps18b |
A |
G |
17: 36,225,215 (GRCm39) |
|
probably benign |
Het |
Ms4a8a |
A |
G |
19: 11,056,828 (GRCm39) |
S85P |
probably benign |
Het |
Msln |
T |
C |
17: 25,968,847 (GRCm39) |
Q487R |
probably benign |
Het |
Myh13 |
A |
G |
11: 67,228,549 (GRCm39) |
N363S |
probably benign |
Het |
Myo6 |
T |
C |
9: 80,152,942 (GRCm39) |
F192L |
probably damaging |
Het |
Nfkbiz |
T |
C |
16: 55,634,383 (GRCm39) |
D688G |
probably damaging |
Het |
Nsun4 |
C |
T |
4: 115,908,974 (GRCm39) |
V529I |
possibly damaging |
Het |
Or12d15 |
A |
T |
17: 37,694,192 (GRCm39) |
M245L |
probably benign |
Het |
Or1j16 |
G |
A |
2: 36,530,975 (GRCm39) |
R308K |
probably benign |
Het |
Or5p70 |
G |
A |
7: 107,994,332 (GRCm39) |
A2T |
probably benign |
Het |
Phf11a |
C |
A |
14: 59,516,834 (GRCm39) |
C208F |
probably damaging |
Het |
Plekhh2 |
G |
A |
17: 84,874,275 (GRCm39) |
C520Y |
probably benign |
Het |
Plxna4 |
C |
A |
6: 32,155,293 (GRCm39) |
M1550I |
probably damaging |
Het |
Pnpla6 |
A |
T |
8: 3,571,397 (GRCm39) |
Y140F |
probably damaging |
Het |
Ppp1r12a |
T |
A |
10: 108,085,488 (GRCm39) |
S478T |
possibly damaging |
Het |
Prkcz |
C |
A |
4: 155,357,393 (GRCm39) |
|
probably null |
Het |
Prss55 |
T |
A |
14: 64,314,574 (GRCm39) |
M199L |
probably damaging |
Het |
Qrich1 |
G |
A |
9: 108,433,659 (GRCm39) |
V651I |
possibly damaging |
Het |
Ralyl |
T |
C |
3: 13,842,005 (GRCm39) |
V47A |
probably damaging |
Het |
Raph1 |
A |
T |
1: 60,562,105 (GRCm39) |
|
probably benign |
Het |
Rgs12 |
T |
C |
5: 35,123,383 (GRCm39) |
Y389H |
probably damaging |
Het |
Sec24b |
C |
A |
3: 129,834,544 (GRCm39) |
G82V |
probably damaging |
Het |
Sema4a |
A |
G |
3: 88,357,293 (GRCm39) |
|
probably null |
Het |
Slc25a11 |
A |
T |
11: 70,536,361 (GRCm39) |
W149R |
probably damaging |
Het |
Slc2a7 |
T |
G |
4: 150,244,551 (GRCm39) |
S340A |
probably benign |
Het |
Slc32a1 |
T |
A |
2: 158,456,716 (GRCm39) |
M457K |
probably damaging |
Het |
Spata31d1e |
T |
C |
13: 59,890,234 (GRCm39) |
|
probably null |
Het |
Spint4 |
C |
T |
2: 164,542,812 (GRCm39) |
T135M |
probably damaging |
Het |
Sult2a2 |
A |
C |
7: 13,472,228 (GRCm39) |
N142H |
probably damaging |
Het |
Tbc1d1 |
G |
A |
5: 64,490,738 (GRCm39) |
G863D |
probably damaging |
Het |
Tmem156 |
G |
A |
5: 65,232,917 (GRCm39) |
T151M |
probably benign |
Het |
Trip12 |
T |
C |
1: 84,746,401 (GRCm39) |
Q459R |
probably damaging |
Het |
Vmn2r116 |
G |
A |
17: 23,605,095 (GRCm39) |
C136Y |
probably damaging |
Het |
Vmn2r51 |
C |
T |
7: 9,836,545 (GRCm39) |
V79M |
possibly damaging |
Het |
Vmn2r67 |
A |
T |
7: 84,801,023 (GRCm39) |
D304E |
probably benign |
Het |
Wdr93 |
T |
A |
7: 79,399,779 (GRCm39) |
F123I |
probably damaging |
Het |
Zfp672 |
A |
T |
11: 58,207,456 (GRCm39) |
C288* |
probably null |
Het |
Zp1 |
T |
C |
19: 10,896,769 (GRCm39) |
Y90C |
probably damaging |
Het |
|
Other mutations in Adgrl4 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00488:Adgrl4
|
APN |
3 |
151,248,478 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL00694:Adgrl4
|
APN |
3 |
151,145,033 (GRCm39) |
splice site |
probably benign |
|
IGL01143:Adgrl4
|
APN |
3 |
151,205,866 (GRCm39) |
splice site |
probably null |
|
IGL01359:Adgrl4
|
APN |
3 |
151,248,923 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01947:Adgrl4
|
APN |
3 |
151,216,428 (GRCm39) |
critical splice donor site |
probably null |
|
IGL02149:Adgrl4
|
APN |
3 |
151,205,991 (GRCm39) |
missense |
possibly damaging |
0.95 |
IGL02324:Adgrl4
|
APN |
3 |
151,203,511 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02562:Adgrl4
|
APN |
3 |
151,144,949 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02644:Adgrl4
|
APN |
3 |
151,198,007 (GRCm39) |
missense |
probably benign |
0.00 |
trivial
|
UTSW |
3 |
151,223,247 (GRCm39) |
missense |
probably benign |
0.07 |
R0077:Adgrl4
|
UTSW |
3 |
151,223,418 (GRCm39) |
missense |
probably damaging |
1.00 |
R0116:Adgrl4
|
UTSW |
3 |
151,223,247 (GRCm39) |
missense |
probably benign |
0.07 |
R0331:Adgrl4
|
UTSW |
3 |
151,203,577 (GRCm39) |
missense |
probably benign |
0.00 |
R0601:Adgrl4
|
UTSW |
3 |
151,204,066 (GRCm39) |
splice site |
probably benign |
|
R0613:Adgrl4
|
UTSW |
3 |
151,248,859 (GRCm39) |
splice site |
probably benign |
|
R1293:Adgrl4
|
UTSW |
3 |
151,213,081 (GRCm39) |
missense |
probably benign |
0.00 |
R1463:Adgrl4
|
UTSW |
3 |
151,216,233 (GRCm39) |
missense |
probably damaging |
0.98 |
R1697:Adgrl4
|
UTSW |
3 |
151,223,248 (GRCm39) |
missense |
probably damaging |
1.00 |
R1731:Adgrl4
|
UTSW |
3 |
151,246,623 (GRCm39) |
missense |
possibly damaging |
0.64 |
R1765:Adgrl4
|
UTSW |
3 |
151,248,872 (GRCm39) |
missense |
probably damaging |
1.00 |
R1782:Adgrl4
|
UTSW |
3 |
151,248,442 (GRCm39) |
nonsense |
probably null |
|
R1888:Adgrl4
|
UTSW |
3 |
151,144,914 (GRCm39) |
missense |
probably benign |
0.11 |
R1888:Adgrl4
|
UTSW |
3 |
151,144,914 (GRCm39) |
missense |
probably benign |
0.11 |
R1957:Adgrl4
|
UTSW |
3 |
151,216,416 (GRCm39) |
missense |
possibly damaging |
0.94 |
R2128:Adgrl4
|
UTSW |
3 |
151,205,838 (GRCm39) |
missense |
probably benign |
0.00 |
R2180:Adgrl4
|
UTSW |
3 |
151,205,779 (GRCm39) |
missense |
probably damaging |
0.96 |
R2238:Adgrl4
|
UTSW |
3 |
151,205,779 (GRCm39) |
missense |
probably damaging |
0.96 |
R2474:Adgrl4
|
UTSW |
3 |
151,248,361 (GRCm39) |
missense |
probably benign |
0.01 |
R2697:Adgrl4
|
UTSW |
3 |
151,216,260 (GRCm39) |
missense |
probably damaging |
1.00 |
R3835:Adgrl4
|
UTSW |
3 |
151,216,254 (GRCm39) |
missense |
probably damaging |
1.00 |
R4499:Adgrl4
|
UTSW |
3 |
151,216,422 (GRCm39) |
missense |
possibly damaging |
0.81 |
R4640:Adgrl4
|
UTSW |
3 |
151,205,947 (GRCm39) |
unclassified |
probably benign |
|
R4747:Adgrl4
|
UTSW |
3 |
151,213,077 (GRCm39) |
missense |
probably benign |
0.01 |
R5428:Adgrl4
|
UTSW |
3 |
151,248,323 (GRCm39) |
missense |
probably damaging |
1.00 |
R5717:Adgrl4
|
UTSW |
3 |
151,197,971 (GRCm39) |
missense |
probably benign |
0.01 |
R6106:Adgrl4
|
UTSW |
3 |
151,246,622 (GRCm39) |
missense |
possibly damaging |
0.67 |
R6343:Adgrl4
|
UTSW |
3 |
151,223,443 (GRCm39) |
missense |
probably damaging |
1.00 |
R6419:Adgrl4
|
UTSW |
3 |
151,144,953 (GRCm39) |
missense |
probably damaging |
1.00 |
R6468:Adgrl4
|
UTSW |
3 |
151,198,012 (GRCm39) |
missense |
probably benign |
|
R6636:Adgrl4
|
UTSW |
3 |
151,223,410 (GRCm39) |
nonsense |
probably null |
|
R6637:Adgrl4
|
UTSW |
3 |
151,223,410 (GRCm39) |
nonsense |
probably null |
|
R6687:Adgrl4
|
UTSW |
3 |
151,248,392 (GRCm39) |
missense |
probably benign |
0.00 |
R6856:Adgrl4
|
UTSW |
3 |
151,205,755 (GRCm39) |
missense |
probably benign |
0.00 |
R6887:Adgrl4
|
UTSW |
3 |
151,248,370 (GRCm39) |
missense |
possibly damaging |
0.46 |
R7041:Adgrl4
|
UTSW |
3 |
151,144,959 (GRCm39) |
missense |
probably benign |
0.00 |
R7527:Adgrl4
|
UTSW |
3 |
151,144,887 (GRCm39) |
missense |
probably benign |
0.08 |
R7597:Adgrl4
|
UTSW |
3 |
151,248,895 (GRCm39) |
missense |
probably damaging |
1.00 |
R7751:Adgrl4
|
UTSW |
3 |
151,197,946 (GRCm39) |
missense |
probably damaging |
0.99 |
R8556:Adgrl4
|
UTSW |
3 |
151,216,302 (GRCm39) |
missense |
probably damaging |
0.98 |
R8696:Adgrl4
|
UTSW |
3 |
151,248,344 (GRCm39) |
missense |
probably damaging |
1.00 |
R8698:Adgrl4
|
UTSW |
3 |
151,203,512 (GRCm39) |
missense |
probably damaging |
1.00 |
R8795:Adgrl4
|
UTSW |
3 |
151,216,416 (GRCm39) |
missense |
probably benign |
0.03 |
R9226:Adgrl4
|
UTSW |
3 |
151,198,064 (GRCm39) |
critical splice donor site |
probably null |
|
R9655:Adgrl4
|
UTSW |
3 |
151,248,450 (GRCm39) |
missense |
probably damaging |
0.96 |
R9755:Adgrl4
|
UTSW |
3 |
151,216,418 (GRCm39) |
missense |
probably benign |
0.01 |
R9767:Adgrl4
|
UTSW |
3 |
151,207,394 (GRCm39) |
missense |
probably benign |
0.16 |
R9784:Adgrl4
|
UTSW |
3 |
151,214,948 (GRCm39) |
missense |
probably damaging |
1.00 |
X0053:Adgrl4
|
UTSW |
3 |
151,203,470 (GRCm39) |
missense |
probably damaging |
1.00 |
Z1088:Adgrl4
|
UTSW |
3 |
151,205,812 (GRCm39) |
missense |
probably benign |
0.00 |
|
Predicted Primers |
PCR Primer
(F):5'- GTTAAGAAGTGCATGCAGTCGG -3'
(R):5'- GACTGTAGCTCATTGGCACTTC -3'
Sequencing Primer
(F):5'- CATGCAGTCGGTTTGTTCTC -3'
(R):5'- TCATTGGCACTTCACAAACGTG -3'
|
Posted On |
2016-10-05 |