Incidental Mutation 'R9723:Gpr179'
ID |
730939 |
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: 0.089)
|
Stock # |
R9723 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
11 |
Chromosomal Location |
97222935-97242903 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 97225546 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Leucine to Histidine
at position 2203
(L2203H)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000091474
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000019026]
[ENSMUST00000093942]
|
AlphaFold |
E9PY61 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000019026
|
SMART Domains |
Protein: ENSMUSP00000019026 Gene: ENSMUSG00000018882
Domain | Start | End | E-Value | Type |
low complexity region
|
26 |
39 |
N/A |
INTRINSIC |
low complexity region
|
43 |
55 |
N/A |
INTRINSIC |
Tim44
|
118 |
266 |
3.7e-32 |
SMART |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000093942
AA Change: L2203H
PolyPhen 2
Score 0.932 (Sensitivity: 0.80; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000091474 Gene: ENSMUSG00000070337 AA Change: L2203H
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: 99.1%
|
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 |
Abcb6 |
G |
A |
1: 75,156,366 (GRCm39) |
R133W |
probably benign |
Het |
Abcc3 |
T |
A |
11: 94,250,725 (GRCm39) |
T877S |
probably benign |
Het |
Alb |
A |
T |
5: 90,611,962 (GRCm39) |
K130N |
probably damaging |
Het |
Alkbh8 |
G |
A |
9: 3,385,283 (GRCm39) |
S560N |
probably benign |
Het |
Angel2 |
T |
G |
1: 190,671,342 (GRCm39) |
L234R |
probably damaging |
Het |
Catip |
C |
T |
1: 74,403,745 (GRCm39) |
T154I |
probably benign |
Het |
Ccdc163 |
C |
T |
4: 116,569,595 (GRCm39) |
Q102* |
probably null |
Het |
Cep250 |
A |
G |
2: 155,823,337 (GRCm39) |
E997G |
probably benign |
Het |
Ces2f |
T |
C |
8: 105,677,463 (GRCm39) |
I183T |
possibly damaging |
Het |
Commd8 |
A |
G |
5: 72,318,309 (GRCm39) |
V158A |
possibly damaging |
Het |
Cyp2b9 |
C |
T |
7: 25,909,596 (GRCm39) |
Q455* |
probably null |
Het |
D5Ertd579e |
G |
T |
5: 36,772,284 (GRCm39) |
H704N |
probably damaging |
Het |
Dnah1 |
T |
C |
14: 30,987,946 (GRCm39) |
T3491A |
probably damaging |
Het |
Dnai1 |
T |
G |
4: 41,603,302 (GRCm39) |
F195C |
possibly damaging |
Het |
Dock7 |
A |
G |
4: 98,908,270 (GRCm39) |
V620A |
|
Het |
Dock7 |
A |
T |
4: 98,960,660 (GRCm39) |
D289E |
|
Het |
Dpys |
T |
A |
15: 39,691,509 (GRCm39) |
E271V |
probably damaging |
Het |
Elovl3 |
T |
C |
19: 46,123,155 (GRCm39) |
Y244H |
probably damaging |
Het |
Enam |
G |
A |
5: 88,652,241 (GRCm39) |
G1250E |
probably damaging |
Het |
Espl1 |
C |
T |
15: 102,229,170 (GRCm39) |
T1774M |
probably benign |
Het |
Fasl |
T |
C |
1: 161,615,535 (GRCm39) |
K107R |
probably benign |
Het |
Fbn1 |
A |
T |
2: 125,202,119 (GRCm39) |
C1251* |
probably null |
Het |
Fn1 |
G |
T |
1: 71,663,369 (GRCm39) |
Q1040K |
possibly damaging |
Het |
Frem3 |
C |
T |
8: 81,341,352 (GRCm39) |
S1215L |
probably benign |
Het |
G3bp2 |
A |
T |
5: 92,214,388 (GRCm39) |
D135E |
possibly damaging |
Het |
Gabpb1 |
C |
T |
2: 126,488,648 (GRCm39) |
V240I |
probably benign |
Het |
Galnt12 |
C |
G |
4: 47,119,541 (GRCm39) |
Y452* |
probably null |
Het |
Ggta1 |
G |
T |
2: 35,303,418 (GRCm39) |
D91E |
probably benign |
Het |
Gm12258 |
C |
T |
11: 58,750,448 (GRCm39) |
P541L |
unknown |
Het |
Gm12789 |
T |
A |
4: 101,846,083 (GRCm39) |
W115R |
possibly damaging |
Het |
Gm8126 |
T |
C |
14: 43,119,141 (GRCm39) |
|
probably null |
Het |
H1f6 |
A |
G |
13: 23,879,906 (GRCm39) |
K20E |
probably damaging |
Het |
Hapln3 |
A |
T |
7: 78,771,736 (GRCm39) |
V51E |
possibly damaging |
Het |
Ifit1 |
A |
G |
19: 34,626,257 (GRCm39) |
*464W |
probably null |
Het |
Il1r1 |
A |
C |
1: 40,332,721 (GRCm39) |
I137L |
probably benign |
Het |
Il1rap |
T |
A |
16: 26,442,907 (GRCm39) |
M1K |
probably null |
Het |
Lgi2 |
A |
G |
5: 52,695,843 (GRCm39) |
L372P |
probably damaging |
Het |
Lrrc46 |
A |
G |
11: 96,925,773 (GRCm39) |
S230P |
possibly damaging |
Het |
Ltbr |
G |
A |
6: 125,284,348 (GRCm39) |
R365W |
probably damaging |
Het |
Mapk8ip3 |
C |
A |
17: 25,132,585 (GRCm39) |
W339L |
possibly damaging |
Het |
Msln |
A |
T |
17: 25,969,008 (GRCm39) |
M459K |
possibly damaging |
Het |
Msr1 |
A |
G |
8: 40,042,357 (GRCm39) |
V406A |
possibly damaging |
Het |
Ndst2 |
G |
T |
14: 20,775,512 (GRCm39) |
D659E |
probably benign |
Het |
Npat |
T |
A |
9: 53,473,746 (GRCm39) |
S513T |
probably benign |
Het |
Npat |
T |
G |
9: 53,481,861 (GRCm39) |
L1190V |
probably damaging |
Het |
Npc1 |
A |
G |
18: 12,343,649 (GRCm39) |
I448T |
probably benign |
Het |
Omd |
T |
C |
13: 49,743,838 (GRCm39) |
F296S |
probably damaging |
Het |
Oprm1 |
A |
G |
10: 6,788,514 (GRCm39) |
N423S |
possibly damaging |
Het |
Oxtr |
G |
A |
6: 112,466,304 (GRCm39) |
T152I |
probably benign |
Het |
Pak2 |
A |
T |
16: 31,852,650 (GRCm39) |
V297E |
probably damaging |
Het |
Pcnx4 |
T |
C |
12: 72,603,039 (GRCm39) |
Y434H |
probably damaging |
Het |
Pet100 |
G |
A |
8: 3,672,374 (GRCm39) |
M20I |
probably damaging |
Het |
Pfpl |
G |
C |
19: 12,406,297 (GRCm39) |
E183Q |
probably damaging |
Het |
Plekhn1 |
A |
G |
4: 156,306,875 (GRCm39) |
S505P |
probably benign |
Het |
Plin5 |
G |
A |
17: 56,423,290 (GRCm39) |
A90V |
probably damaging |
Het |
Poc5 |
A |
G |
13: 96,551,026 (GRCm39) |
T526A |
probably benign |
Het |
Potefam1 |
T |
C |
2: 111,058,700 (GRCm39) |
H84R |
probably damaging |
Het |
Pramel7 |
C |
T |
2: 87,320,019 (GRCm39) |
V425I |
possibly damaging |
Het |
Rad51d |
A |
T |
11: 82,781,162 (GRCm39) |
|
probably null |
Het |
Rbp3 |
T |
C |
14: 33,677,474 (GRCm39) |
M474T |
possibly damaging |
Het |
Rcan3 |
A |
G |
4: 135,152,680 (GRCm39) |
S14P |
probably benign |
Het |
Rps6ka4 |
A |
T |
19: 6,816,663 (GRCm39) |
V140E |
probably damaging |
Het |
Rsbn1l |
G |
A |
5: 21,101,464 (GRCm39) |
S692L |
possibly damaging |
Het |
Sgk1 |
A |
T |
10: 21,872,239 (GRCm39) |
I272F |
probably damaging |
Het |
Skor1 |
A |
G |
9: 63,053,714 (GRCm39) |
V85A |
probably damaging |
Het |
Slc12a1 |
A |
T |
2: 125,059,827 (GRCm39) |
D909V |
probably damaging |
Het |
Slc25a18 |
C |
A |
6: 120,770,489 (GRCm39) |
A283E |
probably benign |
Het |
Slc41a1 |
T |
C |
1: 131,772,103 (GRCm39) |
L411P |
possibly damaging |
Het |
Spata13 |
T |
C |
14: 60,928,498 (GRCm39) |
S19P |
probably damaging |
Het |
Stab1 |
T |
A |
14: 30,885,848 (GRCm39) |
H42L |
probably benign |
Het |
Stag3 |
T |
A |
5: 138,298,103 (GRCm39) |
D698E |
probably benign |
Het |
Syngap1 |
G |
A |
17: 27,189,510 (GRCm39) |
R1305H |
possibly damaging |
Het |
Tek |
T |
G |
4: 94,692,539 (GRCm39) |
W216G |
possibly damaging |
Het |
Trappc9 |
A |
G |
15: 72,461,963 (GRCm39) |
Y1101H |
possibly damaging |
Het |
Ttn |
A |
G |
2: 76,601,929 (GRCm39) |
Y10251H |
probably damaging |
Het |
Uhrf1 |
A |
G |
17: 56,625,061 (GRCm39) |
K535E |
probably damaging |
Het |
Usp14 |
G |
T |
18: 10,009,993 (GRCm39) |
Q185K |
probably damaging |
Het |
Usp32 |
A |
T |
11: 84,935,536 (GRCm39) |
Y413* |
probably null |
Het |
Uvssa |
G |
A |
5: 33,547,382 (GRCm39) |
|
probably null |
Het |
Vmn1r177 |
A |
T |
7: 23,565,774 (GRCm39) |
L34Q |
probably damaging |
Het |
Wdr41 |
T |
C |
13: 95,151,671 (GRCm39) |
L277P |
probably damaging |
Het |
Zc2hc1b |
T |
A |
10: 13,044,497 (GRCm39) |
L55F |
probably damaging |
Het |
Zfp345 |
A |
C |
2: 150,314,189 (GRCm39) |
Y449* |
probably null |
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 |
|
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 |
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'- TAAGGTGAAAGACTCTGGAGCC -3'
(R):5'- TGGTCTTCATGGAGCAAGC -3'
Sequencing Primer
(F):5'- AAAGACTCTGGAGCCTCCGTTTC -3'
(R):5'- CCCAGGGAAAGGGCTAGC -3'
|
Posted On |
2022-10-06 |