Incidental Mutation 'R5591:Gpr179'
| ID |
437537 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Gpr179
|
| Ensembl Gene |
ENSMUSG00000070337 |
| Gene Name |
G protein-coupled receptor 179 |
| Synonyms |
5330439C02Rik |
| MMRRC Submission |
043269-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.089)
|
| Stock # |
R5591 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
97222935-97242903 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 97236581 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Isoleucine
at position 417
(V417I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000091474
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000093942]
|
| AlphaFold |
E9PY61 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000093942
AA Change: V417I
PolyPhen 2
Score 0.166 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000091474
Gene: ENSMUSG00000070337
AA Change: V417I
| 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 |
0.1165 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.6%
- 20x: 96.2%
|
| Validation Efficiency |
97% (56/58) |
| 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: 57 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aldh16a1 |
T |
C |
7: 44,794,076 (GRCm39) |
E13G |
probably null |
Het |
| Ankrd39 |
C |
T |
1: 36,581,062 (GRCm39) |
G96R |
probably damaging |
Het |
| Bub1 |
A |
T |
2: 127,661,263 (GRCm39) |
M276K |
probably benign |
Het |
| Casp14 |
A |
T |
10: 78,550,179 (GRCm39) |
D156E |
unknown |
Het |
| Ccdc82 |
T |
A |
9: 13,272,822 (GRCm39) |
|
probably null |
Het |
| Cdc42bpb |
T |
C |
12: 111,289,521 (GRCm39) |
N436S |
probably benign |
Het |
| Cyp2j12 |
A |
G |
4: 96,029,359 (GRCm39) |
|
probably benign |
Het |
| Cysltr2 |
T |
C |
14: 73,266,931 (GRCm39) |
K260E |
probably benign |
Het |
| Daxx |
T |
C |
17: 34,130,662 (GRCm39) |
S226P |
probably damaging |
Het |
| Gm3676 |
T |
C |
14: 41,365,181 (GRCm39) |
Y158C |
probably benign |
Het |
| Gnai1 |
A |
T |
5: 18,476,844 (GRCm39) |
I285K |
probably benign |
Het |
| Helz2 |
C |
T |
2: 180,882,051 (GRCm39) |
M247I |
probably damaging |
Het |
| Hmcn2 |
C |
T |
2: 31,234,059 (GRCm39) |
L275F |
probably damaging |
Het |
| Ifi27l2b |
A |
G |
12: 103,417,566 (GRCm39) |
V207A |
probably damaging |
Het |
| Isg20l2 |
C |
T |
3: 87,837,731 (GRCm39) |
|
probably benign |
Het |
| Itga6 |
A |
G |
2: 71,670,934 (GRCm39) |
D221G |
probably damaging |
Het |
| Lca5l |
T |
C |
16: 95,979,929 (GRCm39) |
Y67C |
probably damaging |
Het |
| Loxl3 |
T |
A |
6: 83,025,018 (GRCm39) |
C249S |
probably damaging |
Het |
| Luc7l3 |
T |
C |
11: 94,184,060 (GRCm39) |
|
probably benign |
Het |
| Lyst |
T |
G |
13: 13,917,918 (GRCm39) |
I3326S |
probably damaging |
Het |
| Mbd5 |
A |
C |
2: 49,164,681 (GRCm39) |
Q958H |
probably damaging |
Het |
| Mlip |
G |
A |
9: 77,137,764 (GRCm39) |
S381L |
probably damaging |
Het |
| Mplkipl1 |
C |
T |
19: 61,164,364 (GRCm39) |
G24R |
unknown |
Het |
| Mrm3 |
G |
A |
11: 76,140,907 (GRCm39) |
R305H |
probably benign |
Het |
| Mtrex |
A |
T |
13: 113,063,890 (GRCm39) |
M1K |
probably null |
Het |
| Or10ak7 |
A |
T |
4: 118,791,658 (GRCm39) |
I127K |
probably damaging |
Het |
| Or1j18 |
A |
T |
2: 36,625,244 (GRCm39) |
I304F |
probably benign |
Het |
| Or2aj5 |
T |
A |
16: 19,424,608 (GRCm39) |
Q270L |
probably damaging |
Het |
| Or2ak7 |
A |
G |
11: 58,574,951 (GRCm39) |
N84S |
probably benign |
Het |
| Or2d3c |
A |
T |
7: 106,526,489 (GRCm39) |
M59K |
probably damaging |
Het |
| Or4c126 |
A |
G |
2: 89,823,751 (GRCm39) |
T5A |
possibly damaging |
Het |
| Or51q1 |
G |
T |
7: 103,629,320 (GRCm39) |
R307L |
probably benign |
Het |
| P3h3 |
C |
T |
6: 124,831,658 (GRCm39) |
|
probably benign |
Het |
| Pals2 |
A |
G |
6: 50,157,159 (GRCm39) |
S276G |
probably benign |
Het |
| Plekhg3 |
C |
T |
12: 76,607,066 (GRCm39) |
S42L |
possibly damaging |
Het |
| Polq |
A |
G |
16: 36,832,247 (GRCm39) |
|
probably benign |
Het |
| Pramel16 |
T |
C |
4: 143,675,377 (GRCm39) |
Y483C |
probably damaging |
Het |
| Pramel28 |
G |
T |
4: 143,691,530 (GRCm39) |
L398I |
probably damaging |
Het |
| Raph1 |
G |
A |
1: 60,540,905 (GRCm39) |
|
probably benign |
Het |
| Rnf144b |
G |
A |
13: 47,396,430 (GRCm39) |
|
probably null |
Het |
| Ryr2 |
A |
G |
13: 11,609,900 (GRCm39) |
S4309P |
probably benign |
Het |
| Sash1 |
A |
T |
10: 8,601,482 (GRCm39) |
S1158T |
probably benign |
Het |
| Sim2 |
T |
C |
16: 93,898,048 (GRCm39) |
V94A |
probably damaging |
Het |
| Sirt5 |
A |
G |
13: 43,525,317 (GRCm39) |
D42G |
possibly damaging |
Het |
| Smarcal1 |
A |
T |
1: 72,630,412 (GRCm39) |
K155N |
probably damaging |
Het |
| Spam1 |
A |
G |
6: 24,800,545 (GRCm39) |
Y428C |
probably damaging |
Het |
| Spef2 |
T |
C |
15: 9,583,922 (GRCm39) |
N1655S |
probably benign |
Het |
| Sympk |
A |
G |
7: 18,787,964 (GRCm39) |
E1160G |
probably damaging |
Het |
| Tmem192 |
A |
G |
8: 65,418,254 (GRCm39) |
Y168C |
possibly damaging |
Het |
| Ttn |
T |
A |
2: 76,540,012 (GRCm39) |
M25998L |
probably benign |
Het |
| Usp48 |
A |
G |
4: 137,379,963 (GRCm39) |
|
probably benign |
Het |
| Vamp4 |
A |
G |
1: 162,415,811 (GRCm39) |
I71V |
possibly damaging |
Het |
| Washc5 |
C |
A |
15: 59,241,012 (GRCm39) |
D108Y |
probably damaging |
Het |
| Wdfy4 |
T |
A |
14: 32,829,087 (GRCm39) |
H1043L |
probably benign |
Het |
| Zcchc14 |
C |
T |
8: 122,332,187 (GRCm39) |
|
probably benign |
Het |
| Zfp407 |
A |
G |
18: 84,579,262 (GRCm39) |
F617S |
probably damaging |
Het |
| Zfp869 |
T |
A |
8: 70,160,342 (GRCm39) |
N77I |
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 |
|
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 |
|
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'- CATGAATCCCAGAGACCCTG -3'
(R):5'- TGAGACTGGACAAGTGGCTG -3'
Sequencing Primer
(F):5'- CATCTGGGCCACGTAGAGAG -3'
(R):5'- CTGGACAAGTGGCTGTGGAC -3'
|
| Posted On |
2016-10-26 |
Incidental Mutation