Incidental Mutation 'R8940:Gpr179'
| ID |
680931 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Gpr179
|
| Ensembl Gene |
ENSMUSG00000070337 |
| Gene Name |
G protein-coupled receptor 179 |
| Synonyms |
5330439C02Rik |
| MMRRC Submission |
068780-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.081)
|
| Stock # |
R8940 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
97222935-97242903 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 97228675 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Serine
at position 1160
(N1160S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000091474
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000093942]
|
| AlphaFold |
E9PY61 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000093942
AA Change: N1160S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000091474
Gene: ENSMUSG00000070337
AA Change: N1160S
| 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: 100.0%
- 10x: 99.7%
- 20x: 99.1%
|
| Validation Efficiency |
99% (73/74) |
| 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: 77 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2900026A02Rik |
A |
T |
5: 113,241,068 (GRCm39) |
S1709T |
probably benign |
Het |
| Abcc12 |
A |
G |
8: 87,287,440 (GRCm39) |
V135A |
probably benign |
Het |
| Alkbh3 |
G |
T |
2: 93,838,391 (GRCm39) |
P60H |
probably damaging |
Het |
| Armc3 |
A |
C |
2: 19,240,393 (GRCm39) |
Y50S |
probably damaging |
Het |
| Arpc4 |
T |
C |
6: 113,362,599 (GRCm39) |
V70A |
probably benign |
Het |
| Atp13a4 |
A |
G |
16: 29,273,508 (GRCm39) |
|
probably null |
Het |
| Bco1 |
A |
T |
8: 117,857,347 (GRCm39) |
Y438F |
probably benign |
Het |
| Cacna1b |
C |
A |
2: 24,653,084 (GRCm39) |
|
probably benign |
Het |
| Cdh17 |
C |
T |
4: 11,783,226 (GRCm39) |
S189L |
probably damaging |
Het |
| Cltc |
T |
C |
11: 86,621,072 (GRCm39) |
T312A |
probably benign |
Het |
| Crym |
T |
A |
7: 119,794,703 (GRCm39) |
N172I |
probably benign |
Het |
| Depdc7 |
A |
G |
2: 104,554,913 (GRCm39) |
|
probably null |
Het |
| Dnhd1 |
T |
A |
7: 105,363,854 (GRCm39) |
|
probably benign |
Het |
| Dntt |
T |
A |
19: 41,046,990 (GRCm39) |
|
probably benign |
Het |
| Elovl5 |
T |
A |
9: 77,890,007 (GRCm39) |
S273T |
possibly damaging |
Het |
| Fat2 |
A |
T |
11: 55,147,636 (GRCm39) |
L3869M |
possibly damaging |
Het |
| Garnl3 |
T |
C |
2: 32,895,241 (GRCm39) |
|
probably null |
Het |
| Gldc |
C |
T |
19: 30,128,884 (GRCm39) |
M196I |
probably benign |
Het |
| Gm17078 |
C |
T |
14: 51,846,342 (GRCm39) |
V120M |
probably damaging |
Het |
| Gm5157 |
G |
A |
7: 20,918,685 (GRCm39) |
S286F |
probably damaging |
Het |
| Gm6337 |
C |
T |
14: 6,055,308 (GRCm38) |
C187Y |
probably damaging |
Het |
| Golgb1 |
A |
G |
16: 36,736,759 (GRCm39) |
D2002G |
probably damaging |
Het |
| Gulo |
A |
G |
14: 66,235,040 (GRCm39) |
V227A |
probably benign |
Het |
| Hlcs |
G |
A |
16: 94,032,085 (GRCm39) |
A31V |
probably benign |
Het |
| Hs1bp3 |
T |
C |
12: 8,391,980 (GRCm39) |
S361P |
probably benign |
Het |
| Ifi44 |
G |
A |
3: 151,454,946 (GRCm39) |
P93L |
probably benign |
Het |
| Izumo2 |
T |
A |
7: 44,362,470 (GRCm39) |
M78K |
probably benign |
Het |
| Lin54 |
T |
C |
5: 100,594,530 (GRCm39) |
E545G |
probably damaging |
Het |
| Map3k13 |
A |
T |
16: 21,727,454 (GRCm39) |
I439F |
possibly damaging |
Het |
| Matr3 |
T |
G |
18: 35,705,640 (GRCm39) |
S188R |
probably damaging |
Het |
| Mug1 |
A |
T |
6: 121,858,642 (GRCm39) |
H1120L |
|
Het |
| Myef2l |
A |
T |
3: 10,153,406 (GRCm39) |
L58F |
probably benign |
Het |
| Ndst4 |
A |
G |
3: 125,474,802 (GRCm39) |
|
probably benign |
Het |
| Nlrp3 |
G |
A |
11: 59,455,870 (GRCm39) |
V889M |
probably benign |
Het |
| Or1x6 |
A |
G |
11: 50,939,455 (GRCm39) |
I174V |
probably benign |
Het |
| Or2r2 |
A |
G |
6: 42,463,212 (GRCm39) |
M305T |
probably benign |
Het |
| Or5g29 |
A |
G |
2: 85,421,528 (GRCm39) |
I215V |
probably benign |
Het |
| Or5m5 |
A |
T |
2: 85,814,543 (GRCm39) |
M120L |
probably benign |
Het |
| Or8d4 |
T |
A |
9: 40,038,480 (GRCm39) |
Y259F |
probably damaging |
Het |
| P4hb |
A |
T |
11: 120,458,828 (GRCm39) |
D182E |
probably benign |
Het |
| Pcdh10 |
A |
G |
3: 45,338,620 (GRCm39) |
T926A |
possibly damaging |
Het |
| Pikfyve |
T |
C |
1: 65,286,129 (GRCm39) |
S1078P |
probably benign |
Het |
| Plcl2 |
A |
T |
17: 50,915,790 (GRCm39) |
D933V |
probably damaging |
Het |
| Pramel7 |
G |
A |
2: 87,321,612 (GRCm39) |
T141I |
probably benign |
Het |
| Prepl |
A |
T |
17: 85,376,354 (GRCm39) |
C567S |
probably damaging |
Het |
| Prpsap1 |
A |
T |
11: 116,370,615 (GRCm39) |
M114K |
probably damaging |
Het |
| Ptk2b |
A |
C |
14: 66,407,685 (GRCm39) |
|
probably null |
Het |
| Rest |
T |
C |
5: 77,430,715 (GRCm39) |
F1045L |
possibly damaging |
Het |
| Rnf19a |
A |
G |
15: 36,260,284 (GRCm39) |
C254R |
probably damaging |
Het |
| Rrad |
C |
T |
8: 105,355,222 (GRCm39) |
R262Q |
possibly damaging |
Het |
| Rsf1 |
GGCG |
GGCGACTGCCGCG |
7: 97,229,113 (GRCm39) |
|
probably benign |
Het |
| Setdb1 |
T |
A |
3: 95,263,483 (GRCm39) |
M8L |
probably benign |
Het |
| Setdb2 |
A |
G |
14: 59,646,956 (GRCm39) |
S536P |
probably damaging |
Het |
| Sipa1l1 |
T |
C |
12: 82,404,040 (GRCm39) |
L511P |
probably damaging |
Het |
| Slc12a9 |
T |
A |
5: 137,326,755 (GRCm39) |
H234L |
probably benign |
Het |
| Slc35e2 |
G |
T |
4: 155,694,542 (GRCm39) |
G30W |
probably damaging |
Het |
| Slc6a15 |
T |
C |
10: 103,229,357 (GRCm39) |
V132A |
probably damaging |
Het |
| Slc7a10 |
A |
G |
7: 34,899,875 (GRCm39) |
T486A |
probably benign |
Het |
| Smc5 |
T |
C |
19: 23,237,126 (GRCm39) |
Y235C |
probably benign |
Het |
| Sorcs3 |
T |
C |
19: 48,784,908 (GRCm39) |
|
probably null |
Het |
| Spata21 |
T |
C |
4: 140,832,216 (GRCm39) |
L459P |
probably damaging |
Het |
| Tbc1d9 |
A |
G |
8: 83,981,452 (GRCm39) |
I706M |
probably damaging |
Het |
| Tcp11 |
T |
A |
17: 28,299,204 (GRCm39) |
E17V |
probably damaging |
Het |
| Tiparp |
A |
G |
3: 65,439,299 (GRCm39) |
D23G |
probably benign |
Het |
| Tmem108 |
A |
G |
9: 103,377,156 (GRCm39) |
S98P |
possibly damaging |
Het |
| Tmem35b |
A |
G |
4: 127,021,673 (GRCm39) |
D56G |
probably damaging |
Het |
| Tnr |
G |
C |
1: 159,685,867 (GRCm39) |
G366A |
probably damaging |
Het |
| Ttc3 |
A |
G |
16: 94,230,358 (GRCm39) |
S852G |
possibly damaging |
Het |
| Ttn |
G |
A |
2: 76,596,938 (GRCm39) |
L19992F |
probably damaging |
Het |
| Ush2a |
T |
A |
1: 188,132,505 (GRCm39) |
M909K |
probably benign |
Het |
| Wdr90 |
G |
A |
17: 26,076,146 (GRCm39) |
R104C |
|
Het |
| Wif1 |
A |
G |
10: 120,935,684 (GRCm39) |
H333R |
probably benign |
Het |
| Zfp119a |
A |
G |
17: 56,172,551 (GRCm39) |
C431R |
probably damaging |
Het |
| Zfp345 |
G |
A |
2: 150,314,277 (GRCm39) |
P420L |
probably benign |
Het |
| Zfp608 |
C |
T |
18: 55,033,301 (GRCm39) |
D411N |
possibly damaging |
Het |
| Zfp609 |
C |
T |
9: 65,610,561 (GRCm39) |
A801T |
possibly damaging |
Het |
| Zfp74 |
A |
G |
7: 29,634,772 (GRCm39) |
V312A |
possibly 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 |
|
|
R9266:Gpr179
|
UTSW |
11 |
97,227,766 (GRCm39) |
missense |
probably benign |
|
|
R9332:Gpr179
|
UTSW |
11 |
97,229,551 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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'- GGGTTCAGTTACTTCCCAGG -3'
(R):5'- CGGTCTAGGAGCACCTACAAAG -3'
Sequencing Primer
(F):5'- TCAGTTACTTCCCAGGGGCAC -3'
(R):5'- TCTAGGAGCACCTACAAAGAGAAG -3'
|
| Posted On |
2021-08-31 |
Incidental Mutation