Incidental Mutation 'R7307:Gpr179'
| ID |
567328 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Gpr179
|
| Ensembl Gene |
ENSMUSG00000070337 |
| Gene Name |
G protein-coupled receptor 179 |
| Synonyms |
5330439C02Rik |
| MMRRC Submission |
045366-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.081)
|
| Stock # |
R7307 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
97222935-97242903 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 97229672 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Lysine
at position 828
(E828K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000091474
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000093942]
|
| AlphaFold |
E9PY61 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000093942
AA Change: E828K
PolyPhen 2
Score 0.364 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000091474
Gene: ENSMUSG00000070337
AA Change: E828K
| 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 |
|
| Meta Mutation Damage Score |
0.0920 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.0%
|
| Validation Efficiency |
100% (75/75) |
| 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: 74 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2610318N02Rik |
G |
A |
16: 16,936,259 (GRCm39) |
P155L |
probably benign |
Het |
| Adamts12 |
G |
T |
15: 11,217,899 (GRCm39) |
L285F |
probably damaging |
Het |
| Ankrd6 |
A |
T |
4: 32,816,949 (GRCm39) |
Y393N |
possibly damaging |
Het |
| Arhgap45 |
A |
G |
10: 79,865,016 (GRCm39) |
Q993R |
probably benign |
Het |
| Arhgef33 |
G |
C |
17: 80,654,549 (GRCm39) |
|
probably null |
Het |
| B4galnt3 |
T |
C |
6: 120,192,392 (GRCm39) |
D448G |
probably benign |
Het |
| Capn1 |
C |
G |
19: 6,043,938 (GRCm39) |
E564D |
possibly damaging |
Het |
| Ccdc85a |
A |
G |
11: 28,349,384 (GRCm39) |
S474P |
probably benign |
Het |
| Cdk12 |
T |
A |
11: 98,140,626 (GRCm39) |
L1289* |
probably null |
Het |
| Cramp1 |
A |
T |
17: 25,193,719 (GRCm39) |
N920K |
possibly damaging |
Het |
| Cubn |
C |
T |
2: 13,345,143 (GRCm39) |
S2091N |
probably damaging |
Het |
| Ddx1 |
A |
T |
12: 13,273,960 (GRCm39) |
I581N |
probably damaging |
Het |
| Dnm2 |
A |
T |
9: 21,396,983 (GRCm39) |
N487Y |
probably damaging |
Het |
| Enc1 |
A |
C |
13: 97,381,601 (GRCm39) |
N37T |
probably damaging |
Het |
| Ephb3 |
T |
G |
16: 21,040,976 (GRCm39) |
I932S |
probably benign |
Het |
| Frk |
T |
A |
10: 34,467,934 (GRCm39) |
M316K |
probably damaging |
Het |
| Gdap2 |
C |
T |
3: 100,109,349 (GRCm39) |
R25C |
unknown |
Het |
| Gpat2 |
T |
A |
2: 127,276,810 (GRCm39) |
D671E |
probably damaging |
Het |
| Greb1l |
T |
C |
18: 10,538,142 (GRCm39) |
Y1052H |
probably damaging |
Het |
| Gtf2f1 |
C |
T |
17: 57,314,833 (GRCm39) |
S69N |
probably damaging |
Het |
| Hid1 |
A |
C |
11: 115,239,308 (GRCm39) |
I785S |
probably damaging |
Het |
| Hmcn2 |
T |
C |
2: 31,233,093 (GRCm39) |
I214T |
probably damaging |
Het |
| Hsd3b5 |
G |
T |
3: 98,527,085 (GRCm39) |
F120L |
probably damaging |
Het |
| Kif16b |
C |
T |
2: 142,554,851 (GRCm39) |
R649Q |
probably benign |
Het |
| Kif17 |
A |
T |
4: 137,989,954 (GRCm39) |
E47D |
probably benign |
Het |
| Kmt2b |
T |
C |
7: 30,279,896 (GRCm39) |
H1368R |
probably damaging |
Het |
| Kmt2d |
A |
T |
15: 98,747,299 (GRCm39) |
S3342T |
unknown |
Het |
| Krt82 |
A |
G |
15: 101,451,342 (GRCm39) |
C356R |
probably damaging |
Het |
| Lrit2 |
A |
G |
14: 36,794,156 (GRCm39) |
K407E |
probably benign |
Het |
| Malt1 |
T |
A |
18: 65,584,640 (GRCm39) |
H325Q |
possibly damaging |
Het |
| Mccc2 |
T |
G |
13: 100,125,108 (GRCm39) |
D187A |
possibly damaging |
Het |
| Mgll |
T |
A |
6: 88,791,103 (GRCm39) |
|
probably null |
Het |
| Mindy2 |
T |
G |
9: 70,518,241 (GRCm39) |
E449A |
possibly damaging |
Het |
| Muc5b |
G |
A |
7: 141,396,031 (GRCm39) |
V96M |
unknown |
Het |
| Nlrp4e |
A |
G |
7: 23,020,953 (GRCm39) |
E480G |
probably benign |
Het |
| Nup98 |
A |
G |
7: 101,784,002 (GRCm39) |
I1093T |
probably benign |
Het |
| Or13a26 |
G |
A |
7: 140,285,060 (GRCm39) |
V299I |
probably benign |
Het |
| Or1j4 |
G |
A |
2: 36,740,137 (GRCm39) |
M26I |
probably benign |
Het |
| Or4g7 |
A |
T |
2: 111,309,105 (GRCm39) |
|
probably benign |
Het |
| Or52a20 |
G |
T |
7: 103,366,173 (GRCm39) |
R124L |
probably damaging |
Het |
| Pcdhb6 |
A |
T |
18: 37,468,531 (GRCm39) |
H484L |
probably benign |
Het |
| Phldb1 |
T |
C |
9: 44,605,344 (GRCm39) |
T604A |
possibly damaging |
Het |
| Pitpnm3 |
G |
T |
11: 71,961,790 (GRCm39) |
A275D |
probably damaging |
Het |
| Polr2a |
A |
T |
11: 69,638,118 (GRCm39) |
|
probably null |
Het |
| Polr3a |
A |
G |
14: 24,510,055 (GRCm39) |
C960R |
probably benign |
Het |
| Pou6f2 |
G |
A |
13: 18,414,298 (GRCm39) |
A159V |
|
Het |
| Pramel11 |
A |
C |
4: 143,623,345 (GRCm39) |
Y276* |
probably null |
Het |
| Pramel51 |
A |
C |
12: 88,148,519 (GRCm39) |
C32W |
probably damaging |
Het |
| Psmc4 |
A |
G |
7: 27,742,085 (GRCm39) |
V303A |
probably benign |
Het |
| Ptdss2 |
A |
G |
7: 140,731,645 (GRCm39) |
N151S |
possibly damaging |
Het |
| Ptprk |
T |
A |
10: 28,465,004 (GRCm39) |
Y1295* |
probably null |
Het |
| Rbm19 |
A |
G |
5: 120,324,283 (GRCm39) |
K881E |
possibly damaging |
Het |
| Rcan2 |
T |
A |
17: 44,331,993 (GRCm39) |
Y183* |
probably null |
Het |
| Rnd1 |
T |
C |
15: 98,568,680 (GRCm39) |
E166G |
probably damaging |
Het |
| Rnf113a2 |
T |
A |
12: 84,464,953 (GRCm39) |
C282S |
probably damaging |
Het |
| S100b |
G |
A |
10: 76,092,926 (GRCm39) |
G20R |
probably benign |
Het |
| Sae1 |
G |
T |
7: 16,102,469 (GRCm39) |
Y168* |
probably null |
Het |
| Samd9l |
C |
A |
6: 3,372,600 (GRCm39) |
G1554* |
probably null |
Het |
| Samhd1 |
T |
C |
2: 156,976,940 (GRCm39) |
S55G |
probably benign |
Het |
| Sgsm1 |
T |
C |
5: 113,421,512 (GRCm39) |
D525G |
probably benign |
Het |
| Slc28a3 |
A |
T |
13: 58,710,986 (GRCm39) |
M512K |
probably damaging |
Het |
| Slc9b2 |
T |
A |
3: 135,024,151 (GRCm39) |
N67K |
probably benign |
Het |
| Smarca4 |
T |
A |
9: 21,550,096 (GRCm39) |
I402N |
probably damaging |
Het |
| St7l |
T |
C |
3: 104,796,669 (GRCm39) |
F261L |
probably benign |
Het |
| Syde2 |
T |
A |
3: 145,721,553 (GRCm39) |
V1140D |
probably damaging |
Het |
| Syt6 |
T |
A |
3: 103,494,788 (GRCm39) |
I251N |
probably damaging |
Het |
| Taok2 |
T |
C |
7: 126,465,990 (GRCm39) |
E916G |
probably damaging |
Het |
| Tecta |
A |
G |
9: 42,289,288 (GRCm39) |
S426P |
probably damaging |
Het |
| Thra |
T |
C |
11: 98,655,134 (GRCm39) |
I338T |
probably damaging |
Het |
| Trub1 |
A |
T |
19: 57,461,135 (GRCm39) |
Y137F |
probably damaging |
Het |
| Vps13b |
T |
C |
15: 35,841,691 (GRCm39) |
F2574L |
probably benign |
Het |
| Ythdf3 |
T |
C |
3: 16,237,664 (GRCm39) |
S2P |
possibly damaging |
Het |
| Zc3h13 |
T |
A |
14: 75,567,981 (GRCm39) |
D1091E |
probably damaging |
Het |
| Zdhhc6 |
A |
G |
19: 55,301,682 (GRCm39) |
Y100H |
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 |
|
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'- TGACAGAGGAGCCCTTAGAG -3'
(R):5'- CCAGCCTTCAAGAAACGGAG -3'
Sequencing Primer
(F):5'- AGGAGCCCTTAGAGGCCATTC -3'
(R):5'- GCCTTCAAGAAACGGAGAAGCC -3'
|
| Posted On |
2019-06-26 |
Incidental Mutation