Incidental Mutation 'R5507:Gpr179'
| ID |
430998 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Gpr179
|
| Ensembl Gene |
ENSMUSG00000070337 |
| Gene Name |
G protein-coupled receptor 179 |
| Synonyms |
5330439C02Rik |
| MMRRC Submission |
043068-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.081)
|
| Stock # |
R5507 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
97222935-97242903 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 97229156 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tryptophan to Arginine
at position 1000
(W1000R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000091474
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000093942]
|
| AlphaFold |
E9PY61 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000093942
AA Change: W1000R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000091474
Gene: ENSMUSG00000070337
AA Change: W1000R
| 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 |
0.1498 |
| Coding Region Coverage |
- 1x: 98.3%
- 3x: 97.3%
- 10x: 95.3%
- 20x: 91.2%
|
| Validation Efficiency |
100% (66/66) |
| 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: 58 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700009N14Rik |
A |
G |
4: 39,451,084 (GRCm39) |
T97A |
probably damaging |
Het |
| 1700017N19Rik |
T |
C |
10: 100,445,095 (GRCm39) |
S27P |
probably benign |
Het |
| Acoxl |
C |
A |
2: 127,726,394 (GRCm39) |
A256E |
probably damaging |
Het |
| Akap9 |
A |
G |
5: 4,018,683 (GRCm39) |
E1088G |
probably benign |
Het |
| Alox12 |
T |
C |
11: 70,145,238 (GRCm39) |
T112A |
possibly damaging |
Het |
| Ampd2 |
A |
G |
3: 107,984,929 (GRCm39) |
V379A |
probably damaging |
Het |
| Ap4e1 |
C |
A |
2: 126,850,818 (GRCm39) |
H49N |
probably damaging |
Het |
| Arhgap11a |
T |
C |
2: 113,672,023 (GRCm39) |
T260A |
probably benign |
Het |
| Atg2a |
T |
C |
19: 6,295,100 (GRCm39) |
F171S |
possibly damaging |
Het |
| Bpifb9b |
A |
T |
2: 154,158,947 (GRCm39) |
Y488F |
possibly damaging |
Het |
| C2cd2 |
T |
C |
16: 97,682,820 (GRCm39) |
T139A |
probably benign |
Het |
| Cct8l1 |
A |
T |
5: 25,721,377 (GRCm39) |
T31S |
probably benign |
Het |
| Cdhr1 |
A |
T |
14: 36,804,802 (GRCm39) |
N469K |
probably damaging |
Het |
| Chga |
T |
C |
12: 102,528,868 (GRCm39) |
S282P |
probably benign |
Het |
| Chrnb4 |
T |
G |
9: 54,942,296 (GRCm39) |
H326P |
probably damaging |
Het |
| Cntnap1 |
A |
G |
11: 101,074,303 (GRCm39) |
T748A |
probably benign |
Het |
| Cpsf3 |
T |
A |
12: 21,347,929 (GRCm39) |
L250H |
probably damaging |
Het |
| Dnajb12 |
GC |
G |
10: 59,728,574 (GRCm39) |
|
probably null |
Het |
| Dppa5a |
T |
A |
9: 78,275,353 (GRCm39) |
D10V |
possibly damaging |
Het |
| Dsc2 |
G |
A |
18: 20,179,336 (GRCm39) |
T244I |
probably damaging |
Het |
| Elavl4 |
T |
C |
4: 110,070,403 (GRCm39) |
T144A |
probably benign |
Het |
| Ephb1 |
C |
T |
9: 101,813,315 (GRCm39) |
V776M |
probably damaging |
Het |
| Fcrl1 |
C |
T |
3: 87,298,549 (GRCm39) |
S348F |
probably benign |
Het |
| Fga |
T |
A |
3: 82,940,643 (GRCm39) |
W766R |
probably damaging |
Het |
| Galnt14 |
A |
G |
17: 73,802,661 (GRCm39) |
V477A |
probably damaging |
Het |
| Gcdh |
A |
G |
8: 85,619,486 (GRCm39) |
L103P |
probably damaging |
Het |
| Gm27013 |
G |
A |
6: 130,652,942 (GRCm39) |
T840I |
probably damaging |
Het |
| Hectd4 |
C |
T |
5: 121,419,164 (GRCm39) |
A581V |
unknown |
Het |
| Ints12 |
T |
A |
3: 132,814,921 (GRCm39) |
V376E |
probably damaging |
Het |
| Krt77 |
T |
C |
15: 101,769,665 (GRCm39) |
I402V |
probably benign |
Het |
| Marchf1 |
T |
C |
8: 66,871,542 (GRCm39) |
V102A |
probably damaging |
Het |
| Meis1 |
A |
T |
11: 18,966,168 (GRCm39) |
N68K |
probably benign |
Het |
| Mthfd1l |
A |
G |
10: 4,056,432 (GRCm39) |
E916G |
probably benign |
Het |
| Muc5ac |
T |
C |
7: 141,361,569 (GRCm39) |
F1627L |
possibly damaging |
Het |
| Myef2 |
A |
T |
2: 124,958,623 (GRCm39) |
M102K |
probably benign |
Het |
| Naip6 |
A |
C |
13: 100,435,423 (GRCm39) |
H1033Q |
probably benign |
Het |
| Nid1 |
T |
A |
13: 13,663,622 (GRCm39) |
C760* |
probably null |
Het |
| Nt5dc1 |
A |
T |
10: 34,273,226 (GRCm39) |
C191S |
probably benign |
Het |
| Nup214 |
A |
G |
2: 31,878,188 (GRCm39) |
E285G |
possibly damaging |
Het |
| Nvl |
A |
G |
1: 180,962,601 (GRCm39) |
L123P |
probably damaging |
Het |
| Or5t9 |
T |
A |
2: 86,659,661 (GRCm39) |
H188Q |
probably damaging |
Het |
| Otog |
A |
G |
7: 45,911,123 (GRCm39) |
E658G |
probably damaging |
Het |
| Pam16 |
G |
T |
16: 4,435,880 (GRCm39) |
|
probably benign |
Het |
| Psg17 |
T |
C |
7: 18,553,851 (GRCm39) |
D133G |
probably benign |
Het |
| Rabgap1l |
A |
G |
1: 160,178,898 (GRCm39) |
S21P |
possibly damaging |
Het |
| Rgs22 |
T |
A |
15: 36,099,798 (GRCm39) |
M306L |
probably damaging |
Het |
| Ruvbl1 |
A |
G |
6: 88,444,582 (GRCm39) |
K59R |
probably benign |
Het |
| Samd9l |
T |
C |
6: 3,373,898 (GRCm39) |
E1121G |
possibly damaging |
Het |
| Serpinb13 |
A |
G |
1: 106,926,332 (GRCm39) |
N169S |
probably benign |
Het |
| Setbp1 |
T |
A |
18: 79,129,927 (GRCm39) |
T102S |
probably damaging |
Het |
| Syn3 |
A |
T |
10: 85,916,090 (GRCm39) |
S299T |
probably benign |
Het |
| Taar7a |
A |
G |
10: 23,868,529 (GRCm39) |
L284P |
probably damaging |
Het |
| Tlr6 |
C |
A |
5: 65,110,749 (GRCm39) |
Q719H |
probably damaging |
Het |
| Tmem131 |
T |
A |
1: 36,928,361 (GRCm39) |
D76V |
probably damaging |
Het |
| Tradd |
T |
G |
8: 105,986,257 (GRCm39) |
D145A |
possibly damaging |
Het |
| Usp20 |
A |
T |
2: 30,900,238 (GRCm39) |
M251L |
probably benign |
Het |
| Vmn2r96 |
T |
A |
17: 18,818,091 (GRCm39) |
L556Q |
probably damaging |
Het |
| Xrcc2 |
A |
G |
5: 25,897,317 (GRCm39) |
S211P |
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 |
|
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'- AGAAGACCTTGGGCTTTTCC -3'
(R):5'- AGCTCTCAAACCACTGCGAG -3'
Sequencing Primer
(F):5'- AGAAGACCTTGGGCTTTTCCTCATC -3'
(R):5'- ACTGCGAGGCCTCATGAAG -3'
|
| Posted On |
2016-10-05 |
Incidental Mutation