Incidental Mutation 'R9332:Gpr179'
| ID |
706944 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Gpr179
|
| Ensembl Gene |
ENSMUSG00000070337 |
| Gene Name |
G protein-coupled receptor 179 |
| Synonyms |
5330439C02Rik |
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.081)
|
| Stock # |
R9332 (G1)
|
| Quality Score |
217.009 |
|
Status
|
Not validated
|
| Chromosome |
11 |
| Chromosomal Location |
97222935-97242903 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 97229551 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Alanine to Glutamic Acid
at position 868
(A868E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000091474
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000093942]
|
| AlphaFold |
E9PY61 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000093942
AA Change: A868E
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000091474
Gene: ENSMUSG00000070337
AA Change: A868E
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
27 |
N/A |
INTRINSIC |
|
low complexity region
|
28 |
41 |
N/A |
INTRINSIC |
|
EGF
|
281 |
357 |
1.91e1 |
SMART |
|
Pfam:7tm_3
|
391 |
633 |
3.2e-40 |
PFAM |
|
low complexity region
|
735 |
759 |
N/A |
INTRINSIC |
|
low complexity region
|
868 |
880 |
N/A |
INTRINSIC |
|
low complexity region
|
896 |
916 |
N/A |
INTRINSIC |
|
low complexity region
|
959 |
988 |
N/A |
INTRINSIC |
|
low complexity region
|
1107 |
1125 |
N/A |
INTRINSIC |
|
internal_repeat_2
|
1156 |
1467 |
1.99e-12 |
PROSPERO |
|
internal_repeat_1
|
1235 |
1674 |
2.85e-27 |
PROSPERO |
|
internal_repeat_2
|
1569 |
1879 |
1.99e-12 |
PROSPERO |
|
internal_repeat_1
|
1756 |
2284 |
2.85e-27 |
PROSPERO |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.0%
|
| Validation Efficiency |
|
| 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 glutamate receptor subfamily of G protein-coupled receptors. The encoded protein has an EGF-like calcium binding domain and a seven transmembrane domain in the N-terminal region of the protein. Mutations in this gene are associated with congenital stationary night blindness type 1E. [provided by RefSeq, Apr 2012]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit absence of b wave without retinal abnormalities. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 83 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ankrd55 |
T |
G |
13: 112,459,677 (GRCm39) |
D90E |
probably damaging |
Het |
| Arid1b |
C |
A |
17: 5,045,584 (GRCm39) |
P124Q |
unknown |
Het |
| Atxn2 |
C |
T |
5: 121,923,425 (GRCm39) |
P698L |
probably damaging |
Het |
| Bend7 |
T |
C |
2: 4,757,531 (GRCm39) |
V191A |
probably benign |
Het |
| Bltp1 |
G |
A |
3: 37,104,989 (GRCm39) |
D1485N |
|
Het |
| C2cd4a |
T |
G |
9: 67,738,779 (GRCm39) |
H88P |
probably damaging |
Het |
| Cacna1s |
C |
T |
1: 136,020,452 (GRCm39) |
Q830* |
probably null |
Het |
| Camta1 |
T |
C |
4: 151,228,474 (GRCm39) |
E786G |
possibly damaging |
Het |
| Caprin1 |
A |
G |
2: 103,603,390 (GRCm39) |
S443P |
probably benign |
Het |
| Cass4 |
T |
G |
2: 172,269,806 (GRCm39) |
F629L |
probably benign |
Het |
| Ccdc149 |
T |
A |
5: 52,562,399 (GRCm39) |
D209V |
probably damaging |
Het |
| Ccdc150 |
T |
C |
1: 54,316,910 (GRCm39) |
V263A |
probably damaging |
Het |
| Cfc1 |
C |
T |
1: 34,576,453 (GRCm39) |
R145C |
probably damaging |
Het |
| Cnn1 |
C |
A |
9: 22,019,350 (GRCm39) |
D239E |
probably damaging |
Het |
| Cobll1 |
C |
T |
2: 64,933,516 (GRCm39) |
S493N |
probably benign |
Het |
| Cox20 |
A |
T |
1: 178,146,771 (GRCm39) |
K13* |
probably null |
Het |
| Dclk1 |
G |
A |
3: 55,370,500 (GRCm39) |
S340N |
probably damaging |
Het |
| Dennd2c |
T |
A |
3: 103,038,877 (GRCm39) |
D8E |
probably benign |
Het |
| Dnajc10 |
A |
T |
2: 80,175,327 (GRCm39) |
K571N |
probably benign |
Het |
| Dock7 |
T |
A |
4: 98,896,280 (GRCm39) |
I58F |
|
Het |
| Dpy19l4 |
A |
G |
4: 11,304,298 (GRCm39) |
|
probably null |
Het |
| Eef2k |
A |
G |
7: 120,483,918 (GRCm39) |
D218G |
probably benign |
Het |
| Eya4 |
G |
T |
10: 22,989,845 (GRCm39) |
T504K |
probably damaging |
Het |
| Fam222a |
T |
C |
5: 114,749,398 (GRCm39) |
I198T |
probably damaging |
Het |
| Fbxw10 |
T |
A |
11: 62,748,585 (GRCm39) |
F404Y |
probably benign |
Het |
| Fbxw24 |
A |
T |
9: 109,452,681 (GRCm39) |
Y105N |
probably damaging |
Het |
| Fzd10 |
T |
G |
5: 128,678,316 (GRCm39) |
L12R |
possibly damaging |
Het |
| Gm14443 |
A |
G |
2: 175,017,610 (GRCm39) |
|
probably benign |
Het |
| Gm21028 |
A |
T |
7: 42,227,904 (GRCm39) |
C37S |
probably damaging |
Het |
| Greb1l |
T |
A |
18: 10,532,796 (GRCm39) |
Y897N |
possibly damaging |
Het |
| Grid1 |
A |
T |
14: 35,045,360 (GRCm39) |
Y401F |
probably benign |
Het |
| Heatr5a |
G |
A |
12: 51,946,068 (GRCm39) |
T1181I |
probably benign |
Het |
| Herc4 |
G |
A |
10: 63,144,125 (GRCm39) |
V753I |
probably damaging |
Het |
| Htra1 |
A |
T |
7: 130,563,851 (GRCm39) |
K241* |
probably null |
Het |
| Kat6b |
A |
G |
14: 21,720,093 (GRCm39) |
I1482V |
probably benign |
Het |
| Kif19a |
G |
T |
11: 114,680,033 (GRCm39) |
R790L |
possibly damaging |
Het |
| Lmf2 |
G |
A |
15: 89,239,577 (GRCm39) |
L26F |
probably damaging |
Het |
| Lpcat1 |
T |
C |
13: 73,659,462 (GRCm39) |
L408S |
probably damaging |
Het |
| Lrrc69 |
T |
A |
4: 14,774,987 (GRCm39) |
R94W |
probably damaging |
Het |
| Map4 |
A |
G |
9: 109,864,223 (GRCm39) |
T483A |
probably benign |
Het |
| Mettl3 |
C |
A |
14: 52,534,125 (GRCm39) |
C483F |
probably damaging |
Het |
| Myh13 |
A |
G |
11: 67,254,109 (GRCm39) |
D1543G |
possibly damaging |
Het |
| Myh2 |
G |
A |
11: 67,070,209 (GRCm39) |
V414I |
probably damaging |
Het |
| Myh7b |
C |
T |
2: 155,470,722 (GRCm39) |
R1057C |
probably damaging |
Het |
| Myo9b |
A |
G |
8: 71,812,246 (GRCm39) |
S2006G |
probably benign |
Het |
| Nelfcd |
A |
G |
2: 174,264,978 (GRCm39) |
K239R |
probably benign |
Het |
| Nlrp4a |
T |
C |
7: 26,159,077 (GRCm39) |
S786P |
probably damaging |
Het |
| Or5g23 |
T |
A |
2: 85,438,331 (GRCm39) |
K308* |
probably null |
Het |
| Or6c205 |
A |
G |
10: 129,086,972 (GRCm39) |
T190A |
probably damaging |
Het |
| Pdzrn4 |
G |
T |
15: 92,295,216 (GRCm39) |
V141L |
probably benign |
Het |
| Phip |
G |
T |
9: 82,757,412 (GRCm39) |
R1587S |
probably damaging |
Het |
| Plce1 |
A |
G |
19: 38,726,377 (GRCm39) |
E1448G |
probably damaging |
Het |
| Plrg1 |
T |
C |
3: 82,976,308 (GRCm39) |
S326P |
possibly damaging |
Het |
| Pom121l2 |
T |
A |
13: 22,165,852 (GRCm39) |
V41E |
probably damaging |
Het |
| Pramel17 |
C |
T |
4: 101,695,144 (GRCm39) |
V56M |
probably damaging |
Het |
| Preb |
G |
T |
5: 31,113,673 (GRCm39) |
S311* |
probably null |
Het |
| Prss33 |
T |
A |
17: 24,053,723 (GRCm39) |
D118V |
probably damaging |
Het |
| Pum1 |
C |
A |
4: 130,499,209 (GRCm39) |
Y1008* |
probably null |
Het |
| Rassf2 |
G |
A |
2: 131,846,326 (GRCm39) |
R144C |
probably damaging |
Het |
| Rnf123 |
A |
T |
9: 107,944,704 (GRCm39) |
M429K |
probably benign |
Het |
| Rtl1 |
T |
A |
12: 109,557,291 (GRCm39) |
H1516L |
probably benign |
Het |
| Scyl3 |
T |
A |
1: 163,764,007 (GRCm39) |
N124K |
probably damaging |
Het |
| Sec24b |
A |
G |
3: 129,801,220 (GRCm39) |
S488P |
probably benign |
Het |
| Shc4 |
T |
A |
2: 125,520,618 (GRCm39) |
D277V |
probably damaging |
Het |
| Sorl1 |
T |
A |
9: 41,912,814 (GRCm39) |
D1389V |
probably damaging |
Het |
| Srcap |
T |
A |
7: 127,158,812 (GRCm39) |
I2896N |
unknown |
Het |
| Steap3 |
T |
A |
1: 120,155,564 (GRCm39) |
Y465F |
probably benign |
Het |
| Tecta |
C |
A |
9: 42,284,193 (GRCm39) |
C964F |
probably damaging |
Het |
| Thap1 |
AGCAGCATCTGCTCG |
AG |
8: 26,650,882 (GRCm39) |
|
probably null |
Het |
| Thap1 |
CAGCATCTGCTCGGAGCA |
CAGCA |
8: 26,650,884 (GRCm39) |
|
probably null |
Het |
| Tmem178b |
G |
A |
6: 39,981,181 (GRCm39) |
W72* |
probably null |
Het |
| Tmem235 |
T |
G |
11: 117,751,665 (GRCm39) |
Y30D |
probably damaging |
Het |
| Tpst1 |
C |
A |
5: 130,163,301 (GRCm39) |
T366K |
probably benign |
Het |
| Trdv2-1 |
C |
A |
14: 54,183,848 (GRCm39) |
P27T |
probably benign |
Het |
| Trim37 |
G |
T |
11: 87,058,328 (GRCm39) |
L335F |
possibly damaging |
Het |
| Usp9y |
G |
A |
Y: 1,341,873 (GRCm39) |
R1331W |
probably damaging |
Het |
| Vmn1r1 |
T |
G |
1: 181,985,002 (GRCm39) |
H221P |
probably damaging |
Het |
| Vmn2r6 |
A |
T |
3: 64,454,671 (GRCm39) |
S543T |
probably benign |
Het |
| Wdpcp |
C |
T |
11: 21,661,522 (GRCm39) |
P265S |
probably benign |
Het |
| Wdr64 |
T |
C |
1: 175,599,871 (GRCm39) |
L566P |
possibly damaging |
Het |
| Zfp248 |
A |
G |
6: 118,405,891 (GRCm39) |
I566T |
possibly damaging |
Het |
| Zfp595 |
T |
A |
13: 67,465,463 (GRCm39) |
I270F |
probably damaging |
Het |
| Zfp715 |
A |
G |
7: 42,948,847 (GRCm39) |
L371P |
probably damaging |
Het |
|
| Other mutations in Gpr179 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01088:Gpr179
|
APN |
11 |
97,228,627 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL01152:Gpr179
|
APN |
11 |
97,228,237 (GRCm39) |
missense |
probably benign |
0.08 |
|
IGL01402:Gpr179
|
APN |
11 |
97,229,012 (GRCm39) |
nonsense |
probably null |
|
|
IGL01404:Gpr179
|
APN |
11 |
97,229,012 (GRCm39) |
nonsense |
probably null |
|
|
IGL01773:Gpr179
|
APN |
11 |
97,232,192 (GRCm39) |
missense |
probably benign |
0.05 |
|
IGL02682:Gpr179
|
APN |
11 |
97,242,691 (GRCm39) |
missense |
probably benign |
|
|
IGL02728:Gpr179
|
APN |
11 |
97,228,726 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL03243:Gpr179
|
APN |
11 |
97,242,301 (GRCm39) |
missense |
probably benign |
0.02 |
|
IGL03272:Gpr179
|
APN |
11 |
97,227,419 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
IGL03347:Gpr179
|
APN |
11 |
97,242,664 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03355:Gpr179
|
APN |
11 |
97,228,434 (GRCm39) |
missense |
possibly damaging |
0.57 |
|
PIT4280001:Gpr179
|
UTSW |
11 |
97,234,941 (GRCm39) |
missense |
probably damaging |
1.00 |
|
PIT4366001:Gpr179
|
UTSW |
11 |
97,227,677 (GRCm39) |
missense |
probably benign |
|
|
R0042:Gpr179
|
UTSW |
11 |
97,225,757 (GRCm39) |
missense |
probably benign |
0.04 |
|
R0042:Gpr179
|
UTSW |
11 |
97,225,757 (GRCm39) |
missense |
probably benign |
0.04 |
|
R0080:Gpr179
|
UTSW |
11 |
97,242,295 (GRCm39) |
missense |
probably benign |
0.08 |
|
R0255:Gpr179
|
UTSW |
11 |
97,226,892 (GRCm39) |
missense |
probably benign |
0.24 |
|
R0412:Gpr179
|
UTSW |
11 |
97,229,633 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0481:Gpr179
|
UTSW |
11 |
97,240,544 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0612:Gpr179
|
UTSW |
11 |
97,229,264 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R0786:Gpr179
|
UTSW |
11 |
97,234,100 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1753:Gpr179
|
UTSW |
11 |
97,237,404 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1761:Gpr179
|
UTSW |
11 |
97,225,932 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1796:Gpr179
|
UTSW |
11 |
97,227,382 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R1969:Gpr179
|
UTSW |
11 |
97,228,784 (GRCm39) |
missense |
probably benign |
|
|
R2240:Gpr179
|
UTSW |
11 |
97,242,559 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3855:Gpr179
|
UTSW |
11 |
97,232,260 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3913:Gpr179
|
UTSW |
11 |
97,225,591 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4484:Gpr179
|
UTSW |
11 |
97,226,537 (GRCm39) |
missense |
probably benign |
0.28 |
|
R4806:Gpr179
|
UTSW |
11 |
97,240,610 (GRCm39) |
missense |
possibly damaging |
0.55 |
|
R4816:Gpr179
|
UTSW |
11 |
97,230,074 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4906:Gpr179
|
UTSW |
11 |
97,237,487 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R4945:Gpr179
|
UTSW |
11 |
97,240,544 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5191:Gpr179
|
UTSW |
11 |
97,228,975 (GRCm39) |
missense |
possibly damaging |
0.76 |
|
R5273:Gpr179
|
UTSW |
11 |
97,238,256 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5317:Gpr179
|
UTSW |
11 |
97,228,671 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5459:Gpr179
|
UTSW |
11 |
97,227,483 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5507:Gpr179
|
UTSW |
11 |
97,229,156 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5523:Gpr179
|
UTSW |
11 |
97,227,608 (GRCm39) |
missense |
probably benign |
0.37 |
|
R5536:Gpr179
|
UTSW |
11 |
97,234,641 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5591:Gpr179
|
UTSW |
11 |
97,236,581 (GRCm39) |
missense |
probably benign |
0.17 |
|
R5679:Gpr179
|
UTSW |
11 |
97,227,571 (GRCm39) |
missense |
probably benign |
0.20 |
|
R5738:Gpr179
|
UTSW |
11 |
97,242,232 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5829:Gpr179
|
UTSW |
11 |
97,226,524 (GRCm39) |
missense |
probably benign |
0.11 |
|
R5836:Gpr179
|
UTSW |
11 |
97,229,882 (GRCm39) |
missense |
probably benign |
0.03 |
|
R6007:Gpr179
|
UTSW |
11 |
97,226,628 (GRCm39) |
nonsense |
probably null |
|
|
R6047:Gpr179
|
UTSW |
11 |
97,229,242 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6339:Gpr179
|
UTSW |
11 |
97,235,002 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6383:Gpr179
|
UTSW |
11 |
97,227,973 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R6674:Gpr179
|
UTSW |
11 |
97,238,231 (GRCm39) |
critical splice donor site |
probably null |
|
|
R6712:Gpr179
|
UTSW |
11 |
97,226,993 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R6835:Gpr179
|
UTSW |
11 |
97,238,293 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6980:Gpr179
|
UTSW |
11 |
97,225,684 (GRCm39) |
missense |
probably benign |
0.38 |
|
R7044:Gpr179
|
UTSW |
11 |
97,240,616 (GRCm39) |
missense |
probably benign |
0.19 |
|
R7121:Gpr179
|
UTSW |
11 |
97,225,556 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7307:Gpr179
|
UTSW |
11 |
97,229,672 (GRCm39) |
missense |
probably benign |
0.36 |
|
R7406:Gpr179
|
UTSW |
11 |
97,242,420 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7467:Gpr179
|
UTSW |
11 |
97,226,115 (GRCm39) |
missense |
probably benign |
0.02 |
|
R7477:Gpr179
|
UTSW |
11 |
97,226,665 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R7725:Gpr179
|
UTSW |
11 |
97,242,118 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8028:Gpr179
|
UTSW |
11 |
97,228,627 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8165:Gpr179
|
UTSW |
11 |
97,242,364 (GRCm39) |
missense |
probably benign |
0.12 |
|
R8262:Gpr179
|
UTSW |
11 |
97,226,983 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8674:Gpr179
|
UTSW |
11 |
97,225,873 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8695:Gpr179
|
UTSW |
11 |
97,227,124 (GRCm39) |
missense |
possibly damaging |
0.59 |
|
R8731:Gpr179
|
UTSW |
11 |
97,234,555 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8791:Gpr179
|
UTSW |
11 |
97,242,739 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8889:Gpr179
|
UTSW |
11 |
97,226,590 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R8892:Gpr179
|
UTSW |
11 |
97,226,590 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R8898:Gpr179
|
UTSW |
11 |
97,242,329 (GRCm39) |
nonsense |
probably null |
|
|
R8940:Gpr179
|
UTSW |
11 |
97,228,675 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9266:Gpr179
|
UTSW |
11 |
97,227,766 (GRCm39) |
missense |
probably benign |
|
|
R9440:Gpr179
|
UTSW |
11 |
97,229,315 (GRCm39) |
missense |
probably benign |
0.11 |
|
R9557:Gpr179
|
UTSW |
11 |
97,235,029 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R9594:Gpr179
|
UTSW |
11 |
97,225,727 (GRCm39) |
missense |
probably benign |
0.13 |
|
R9723:Gpr179
|
UTSW |
11 |
97,225,546 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
X0065:Gpr179
|
UTSW |
11 |
97,238,264 (GRCm39) |
missense |
probably benign |
0.08 |
|
Z1176:Gpr179
|
UTSW |
11 |
97,227,474 (GRCm39) |
missense |
probably benign |
0.05 |
|
Z1177:Gpr179
|
UTSW |
11 |
97,242,065 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- GTGGGAGACAACATTCTTGGC -3'
(R):5'- ACCCTGTCCAAGAAGGCTTC -3'
Sequencing Primer
(F):5'- AGACAACATTCTTGGCTCTCCCAG -3'
(R):5'- CGAGAGTCGTTGGCAGAC -3'
|
| Posted On |
2022-04-18 |
Incidental Mutation