Incidental Mutation 'R9266:Gpr179'
| ID |
702556 |
| 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 # |
R9266 (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 G
at 97227766 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Threonine
at position 1463
(I1463T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000091474
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000093942]
|
| AlphaFold |
E9PY61 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000093942
AA Change: I1463T
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000091474
Gene: ENSMUSG00000070337
AA Change: I1463T
| 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: 67 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcf1 |
C |
A |
17: 36,270,178 (GRCm39) |
E627* |
probably null |
Het |
| Aoc1l2 |
A |
G |
6: 48,907,171 (GRCm39) |
N57S |
probably benign |
Het |
| Arhgap42 |
A |
G |
9: 9,006,386 (GRCm39) |
V670A |
probably benign |
Het |
| Arhgef16 |
C |
A |
4: 154,375,922 (GRCm39) |
R24L |
probably benign |
Het |
| Atad2 |
A |
T |
15: 57,985,967 (GRCm39) |
D251E |
probably benign |
Het |
| Atf2 |
T |
C |
2: 73,649,271 (GRCm39) |
S447G |
probably benign |
Het |
| Atp8b1 |
T |
C |
18: 64,704,108 (GRCm39) |
M337V |
probably benign |
Het |
| Atp8b1 |
C |
T |
18: 64,710,528 (GRCm39) |
D170N |
possibly damaging |
Het |
| Azin2 |
C |
A |
4: 128,856,230 (GRCm39) |
|
probably benign |
Het |
| Btbd16 |
C |
T |
7: 130,417,516 (GRCm39) |
R344C |
probably damaging |
Het |
| Cdh19 |
A |
G |
1: 110,817,771 (GRCm39) |
L657P |
probably damaging |
Het |
| Crybg3 |
A |
T |
16: 59,372,544 (GRCm39) |
V598E |
probably damaging |
Het |
| Cwc22 |
A |
G |
2: 77,754,952 (GRCm39) |
I208T |
probably benign |
Het |
| Cyp4a32 |
T |
A |
4: 115,468,307 (GRCm39) |
D292E |
probably damaging |
Het |
| Dnah10 |
G |
A |
5: 124,845,990 (GRCm39) |
V1510I |
probably benign |
Het |
| Dpp3 |
G |
T |
19: 4,964,686 (GRCm39) |
Y540* |
probably null |
Het |
| Efcab8 |
G |
C |
2: 153,646,861 (GRCm39) |
V397L |
unknown |
Het |
| Elf1 |
A |
G |
14: 79,798,290 (GRCm39) |
D59G |
probably benign |
Het |
| Epc1 |
A |
T |
18: 6,449,219 (GRCm39) |
M476K |
probably benign |
Het |
| Espnl |
C |
A |
1: 91,272,771 (GRCm39) |
S710R |
probably benign |
Het |
| Fam171b |
T |
C |
2: 83,683,926 (GRCm39) |
W148R |
probably damaging |
Het |
| Fhod1 |
A |
G |
8: 106,065,531 (GRCm39) |
L88P |
unknown |
Het |
| Frmd4a |
A |
G |
2: 4,610,846 (GRCm39) |
S999G |
probably damaging |
Het |
| Glmp |
T |
C |
3: 88,233,036 (GRCm39) |
I58T |
probably damaging |
Het |
| Gm45861 |
T |
A |
8: 28,074,674 (GRCm39) |
D1341E |
unknown |
Het |
| Gsdmc2 |
T |
C |
15: 63,698,088 (GRCm39) |
E339G |
probably damaging |
Het |
| Insm1 |
A |
T |
2: 146,064,933 (GRCm39) |
I250F |
probably damaging |
Het |
| Insm1 |
G |
A |
2: 146,064,943 (GRCm39) |
G253D |
possibly damaging |
Het |
| Itih1 |
A |
T |
14: 30,652,222 (GRCm39) |
S824T |
probably damaging |
Het |
| Lactb |
A |
G |
9: 66,878,499 (GRCm39) |
Y190H |
possibly damaging |
Het |
| Lrba |
T |
C |
3: 86,198,774 (GRCm39) |
M197T |
probably benign |
Het |
| Lrrc4c |
A |
G |
2: 97,459,853 (GRCm39) |
I160V |
probably benign |
Het |
| Lrrc59 |
A |
T |
11: 94,532,044 (GRCm39) |
|
probably null |
Het |
| Ltk |
A |
T |
2: 119,585,121 (GRCm39) |
M425K |
possibly damaging |
Het |
| Map9 |
T |
C |
3: 82,278,594 (GRCm39) |
V198A |
possibly damaging |
Het |
| Mms22l |
T |
C |
4: 24,578,878 (GRCm39) |
Y746H |
probably damaging |
Het |
| Ms4a4b |
A |
G |
19: 11,432,060 (GRCm39) |
I60M |
probably benign |
Het |
| Mtif2 |
T |
C |
11: 29,480,065 (GRCm39) |
W44R |
probably benign |
Het |
| Nadsyn1 |
A |
T |
7: 143,369,348 (GRCm39) |
W128R |
probably damaging |
Het |
| Nrcam |
G |
A |
12: 44,636,917 (GRCm39) |
A1117T |
probably damaging |
Het |
| Ntng1 |
G |
A |
3: 110,050,923 (GRCm39) |
|
probably benign |
Het |
| Ntng1 |
A |
G |
3: 110,051,162 (GRCm39) |
F56L |
unknown |
Het |
| Oas2 |
A |
T |
5: 120,887,637 (GRCm39) |
Y68N |
probably damaging |
Het |
| Or4c119 |
A |
T |
2: 88,986,854 (GRCm39) |
F222I |
possibly damaging |
Het |
| Or5b101 |
A |
C |
19: 13,005,648 (GRCm39) |
L15R |
probably damaging |
Het |
| Or6c6c |
T |
C |
10: 129,541,547 (GRCm39) |
S267P |
probably benign |
Het |
| Pals2 |
T |
C |
6: 50,140,463 (GRCm39) |
M161T |
probably benign |
Het |
| Paqr8 |
C |
T |
1: 21,005,863 (GRCm39) |
T339I |
probably benign |
Het |
| Pcdhga10 |
A |
G |
18: 37,881,814 (GRCm39) |
E525G |
probably benign |
Het |
| Psg28 |
T |
G |
7: 18,161,752 (GRCm39) |
L250F |
probably benign |
Het |
| S100a13 |
G |
T |
3: 90,423,170 (GRCm39) |
D54Y |
unknown |
Het |
| Slc16a4 |
A |
T |
3: 107,199,788 (GRCm39) |
T12S |
probably benign |
Het |
| Slc9b1 |
A |
G |
3: 135,054,468 (GRCm39) |
|
probably benign |
Het |
| Slit3 |
T |
C |
11: 35,598,808 (GRCm39) |
S1471P |
probably damaging |
Het |
| Smpdl3a |
T |
C |
10: 57,678,596 (GRCm39) |
V133A |
possibly damaging |
Het |
| Snap23 |
C |
T |
2: 120,414,781 (GRCm39) |
|
probably benign |
Het |
| Spp2 |
A |
G |
1: 88,344,975 (GRCm39) |
M146V |
probably benign |
Het |
| Syf2 |
C |
A |
4: 134,663,321 (GRCm39) |
N164K |
possibly damaging |
Het |
| Sync |
T |
G |
4: 129,187,179 (GRCm39) |
Y70* |
probably null |
Het |
| Tex56 |
A |
G |
13: 35,116,569 (GRCm39) |
K106R |
possibly damaging |
Het |
| Tmigd3 |
T |
C |
3: 105,824,216 (GRCm39) |
F62L |
probably benign |
Het |
| Trpa1 |
C |
T |
1: 14,980,953 (GRCm39) |
|
probably null |
Het |
| U2surp |
A |
T |
9: 95,366,468 (GRCm39) |
I480N |
probably damaging |
Het |
| Usf3 |
C |
T |
16: 44,040,095 (GRCm39) |
T1525I |
probably damaging |
Het |
| Vmn2r2 |
T |
C |
3: 64,024,057 (GRCm39) |
I841M |
probably damaging |
Het |
| Zfp335 |
T |
A |
2: 164,738,007 (GRCm39) |
Q868L |
probably benign |
Het |
| Zscan10 |
A |
G |
17: 23,828,385 (GRCm39) |
E309G |
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 |
|
|
R8940:Gpr179
|
UTSW |
11 |
97,228,675 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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'- TACTGACTCCTGTCCTTGAGGG -3'
(R):5'- GGAACTCCCTGAAGAAAGGC -3'
Sequencing Primer
(F):5'- TCCTTGAGGGACTGTGGG -3'
(R):5'- TCCCTGAAGAAAGGCAGAAATC -3'
|
| Posted On |
2022-03-25 |
Incidental Mutation