Incidental Mutation 'R0481:Gpr179'
ID |
43385 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Gpr179
|
Ensembl Gene |
ENSMUSG00000070337 |
Gene Name |
G protein-coupled receptor 179 |
Synonyms |
5330439C02Rik |
MMRRC Submission |
038681-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.089)
|
Stock # |
R0481 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
11 |
Chromosomal Location |
97222935-97242903 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 97240544 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Histidine to Arginine
at position 293
(H293R)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000091474
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000093942]
|
AlphaFold |
E9PY61 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000093942
AA Change: H293R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000091474 Gene: ENSMUSG00000070337 AA Change: H293R
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 |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000162544
|
Meta Mutation Damage Score |
0.3393 |
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.3%
- 10x: 96.5%
- 20x: 93.3%
|
Validation Efficiency |
95% (89/94) |
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: 87 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcg4 |
T |
A |
9: 44,190,666 (GRCm39) |
N39Y |
probably benign |
Het |
Adamts10 |
C |
T |
17: 33,768,347 (GRCm39) |
Q840* |
probably null |
Het |
Aff2 |
C |
T |
X: 68,878,248 (GRCm39) |
T678I |
probably damaging |
Het |
Ahctf1 |
A |
G |
1: 179,587,836 (GRCm39) |
V1418A |
probably benign |
Het |
Ankrd11 |
G |
A |
8: 123,626,775 (GRCm39) |
R136C |
probably damaging |
Het |
Arf5 |
A |
G |
6: 28,426,075 (GRCm39) |
Y154C |
probably damaging |
Het |
AW551984 |
A |
G |
9: 39,511,912 (GRCm39) |
V33A |
probably null |
Het |
B4galt5 |
A |
G |
2: 167,151,154 (GRCm39) |
L118P |
probably damaging |
Het |
Bcl9l |
A |
G |
9: 44,417,979 (GRCm39) |
I606V |
probably benign |
Het |
Bdp1 |
A |
G |
13: 100,177,962 (GRCm39) |
I1969T |
probably benign |
Het |
Bicd1 |
A |
T |
6: 149,413,389 (GRCm39) |
D260V |
possibly damaging |
Het |
Cap1 |
A |
T |
4: 122,756,868 (GRCm39) |
H272Q |
possibly damaging |
Het |
Ccnk |
A |
G |
12: 108,165,568 (GRCm39) |
|
probably benign |
Het |
Cd209f |
A |
T |
8: 4,155,558 (GRCm39) |
|
probably null |
Het |
Cdk13 |
C |
A |
13: 17,894,079 (GRCm39) |
A1123S |
probably damaging |
Het |
Cdx1 |
C |
T |
18: 61,153,564 (GRCm39) |
R158H |
probably damaging |
Het |
Chd8 |
A |
G |
14: 52,474,663 (GRCm39) |
S123P |
probably benign |
Het |
Cwc22 |
G |
A |
2: 77,738,455 (GRCm39) |
A497V |
probably damaging |
Het |
Cwh43 |
T |
C |
5: 73,575,370 (GRCm39) |
S296P |
probably damaging |
Het |
Dhx38 |
A |
T |
8: 110,282,848 (GRCm39) |
|
probably benign |
Het |
Dnah5 |
T |
A |
15: 28,383,745 (GRCm39) |
M2989K |
probably benign |
Het |
Dpy19l4 |
A |
C |
4: 11,272,993 (GRCm39) |
|
probably benign |
Het |
F11r |
A |
T |
1: 171,288,847 (GRCm39) |
H155L |
probably benign |
Het |
Fcgbpl1 |
A |
T |
7: 27,853,174 (GRCm39) |
D1487V |
probably damaging |
Het |
Fitm2 |
A |
G |
2: 163,311,634 (GRCm39) |
V193A |
probably benign |
Het |
Foxk1 |
T |
A |
5: 142,434,578 (GRCm39) |
S281T |
probably benign |
Het |
Furin |
A |
G |
7: 80,043,297 (GRCm39) |
C305R |
probably damaging |
Het |
Fut8 |
T |
A |
12: 77,495,334 (GRCm39) |
V308D |
probably damaging |
Het |
Gjb3 |
T |
A |
4: 127,220,125 (GRCm39) |
I136F |
probably benign |
Het |
Glmn |
A |
T |
5: 107,708,800 (GRCm39) |
S385T |
probably benign |
Het |
Glp1r |
T |
A |
17: 31,150,191 (GRCm39) |
M371K |
probably benign |
Het |
H2-M11 |
A |
T |
17: 36,859,846 (GRCm39) |
R280* |
probably null |
Het |
Hadhb |
T |
A |
5: 30,373,543 (GRCm39) |
H78Q |
probably damaging |
Het |
Hectd4 |
A |
G |
5: 121,433,569 (GRCm39) |
|
probably benign |
Het |
Hexa |
A |
G |
9: 59,462,693 (GRCm39) |
|
probably benign |
Het |
Hsh2d |
G |
A |
8: 72,954,304 (GRCm39) |
D229N |
probably benign |
Het |
Hyal6 |
G |
A |
6: 24,743,417 (GRCm39) |
C371Y |
probably damaging |
Het |
Il1rap |
T |
C |
16: 26,511,585 (GRCm39) |
Y210H |
probably damaging |
Het |
Ino80 |
A |
T |
2: 119,261,497 (GRCm39) |
H722Q |
probably damaging |
Het |
Kcnt1 |
A |
G |
2: 25,782,508 (GRCm39) |
N200S |
probably damaging |
Het |
Kif27 |
T |
A |
13: 58,459,078 (GRCm39) |
|
probably benign |
Het |
Lyst |
T |
C |
13: 13,852,537 (GRCm39) |
V2179A |
probably benign |
Het |
Macf1 |
C |
A |
4: 123,377,815 (GRCm39) |
|
probably null |
Het |
Mamdc4 |
A |
G |
2: 25,461,228 (GRCm39) |
M1T |
probably null |
Het |
Mansc4 |
A |
G |
6: 146,976,725 (GRCm39) |
I297T |
possibly damaging |
Het |
Mdn1 |
G |
A |
4: 32,767,182 (GRCm39) |
|
probably benign |
Het |
Mib2 |
A |
G |
4: 155,740,519 (GRCm39) |
|
probably benign |
Het |
Mon2 |
A |
G |
10: 122,849,301 (GRCm39) |
V1333A |
possibly damaging |
Het |
Ndst2 |
T |
C |
14: 20,774,536 (GRCm39) |
D840G |
possibly damaging |
Het |
Nell2 |
A |
T |
15: 95,330,563 (GRCm39) |
|
probably null |
Het |
Or4c102 |
A |
T |
2: 88,422,999 (GRCm39) |
I284F |
probably damaging |
Het |
Or4k51 |
T |
A |
2: 111,584,930 (GRCm39) |
M112K |
probably damaging |
Het |
Or5g29 |
C |
A |
2: 85,421,448 (GRCm39) |
A188E |
possibly damaging |
Het |
Pde5a |
C |
T |
3: 122,611,726 (GRCm39) |
|
probably benign |
Het |
Phip |
A |
G |
9: 82,758,769 (GRCm39) |
|
probably benign |
Het |
Polr2b |
A |
G |
5: 77,479,929 (GRCm39) |
I561V |
possibly damaging |
Het |
Ppp4r3c2 |
T |
C |
X: 88,796,299 (GRCm39) |
S44P |
probably damaging |
Het |
Prkg2 |
A |
T |
5: 99,142,514 (GRCm39) |
|
probably null |
Het |
Prl8a6 |
T |
C |
13: 27,617,084 (GRCm39) |
D201G |
probably benign |
Het |
Ptk6 |
G |
A |
2: 180,844,320 (GRCm39) |
|
probably benign |
Het |
Ptprn2 |
T |
C |
12: 117,175,466 (GRCm39) |
|
probably benign |
Het |
Rdh1 |
G |
T |
10: 127,598,993 (GRCm39) |
R158L |
probably damaging |
Het |
Rhbdl3 |
T |
C |
11: 80,214,175 (GRCm39) |
|
probably benign |
Het |
Rims4 |
A |
T |
2: 163,706,040 (GRCm39) |
V198E |
probably damaging |
Het |
Ripk1 |
T |
C |
13: 34,193,733 (GRCm39) |
S32P |
probably damaging |
Het |
Rnf13 |
T |
A |
3: 57,686,872 (GRCm39) |
N88K |
probably damaging |
Het |
Rnf13 |
C |
A |
3: 57,714,474 (GRCm39) |
L178I |
probably damaging |
Het |
Slc17a5 |
G |
T |
9: 78,445,584 (GRCm39) |
|
probably null |
Het |
Sorcs1 |
A |
G |
19: 50,624,891 (GRCm39) |
|
probably benign |
Het |
Spata31e3 |
T |
A |
13: 50,401,000 (GRCm39) |
Q442L |
probably benign |
Het |
Srpk1 |
G |
A |
17: 28,809,218 (GRCm39) |
|
probably benign |
Het |
Stk10 |
A |
G |
11: 32,564,708 (GRCm39) |
K840E |
probably damaging |
Het |
Suco |
A |
G |
1: 161,689,882 (GRCm39) |
|
probably benign |
Het |
T2 |
G |
A |
17: 8,636,007 (GRCm39) |
|
probably null |
Het |
Tbc1d5 |
A |
G |
17: 51,226,079 (GRCm39) |
S255P |
probably damaging |
Het |
Tenm1 |
T |
C |
X: 41,625,058 (GRCm39) |
Y2254C |
probably damaging |
Het |
Tex9 |
T |
A |
9: 72,385,678 (GRCm39) |
K11* |
probably null |
Het |
Tlr4 |
A |
G |
4: 66,746,153 (GRCm39) |
I29V |
probably benign |
Het |
Tmem255a |
A |
T |
X: 37,288,523 (GRCm39) |
V278D |
probably damaging |
Het |
Trpc3 |
T |
C |
3: 36,678,566 (GRCm39) |
I840V |
probably benign |
Het |
Trpm3 |
G |
A |
19: 22,878,435 (GRCm39) |
R622Q |
possibly damaging |
Het |
Vmn1r214 |
T |
A |
13: 23,219,464 (GRCm39) |
Y319* |
probably null |
Het |
Vmn1r53 |
A |
T |
6: 90,200,700 (GRCm39) |
V208E |
probably damaging |
Het |
Vmn2r89 |
T |
C |
14: 51,693,577 (GRCm39) |
F309S |
probably damaging |
Het |
Xirp2 |
T |
A |
2: 67,340,253 (GRCm39) |
F831L |
possibly damaging |
Het |
Yes1 |
G |
T |
5: 32,797,749 (GRCm39) |
E23* |
probably null |
Het |
Zfp292 |
A |
T |
4: 34,810,059 (GRCm39) |
M995K |
probably benign |
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 |
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 |
|
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'- TCCTGGAGTGCTGAGTACCAGAATG -3'
(R):5'- GCCTCTGTGCTAATGTGTGCAAAC -3'
Sequencing Primer
(F):5'- ATGGACTAGGTTGTACATTAGCCTTG -3'
(R):5'- TGCTAATGTGTGCAAACAAAGACC -3'
|
Posted On |
2013-05-23 |