Incidental Mutation 'R6391:Or51a6'
| ID |
515765 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Or51a6
|
| Ensembl Gene |
ENSMUSG00000066269 |
| Gene Name |
olfactory receptor family 51 subfamily A member 6 |
| Synonyms |
GA_x6K02T2PBJ9-5666843-5665908, MOR8-1, Olfr575 |
| MMRRC Submission |
044540-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.084)
|
| Stock # |
R6391 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
102603871-102604827 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 102604622 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Phenylalanine
at position 69
(Y69F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000081873
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000084812]
[ENSMUST00000213477]
[ENSMUST00000216420]
|
| AlphaFold |
Q8VH16 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000084812
AA Change: Y69F
PolyPhen 2
Score 0.656 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000081873
Gene: ENSMUSG00000066269
AA Change: Y69F
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7tm_4
|
40 |
318 |
4.6e-112 |
PFAM |
|
Pfam:7TM_GPCR_Srsx
|
44 |
312 |
2.6e-10 |
PFAM |
|
Pfam:7tm_1
|
50 |
300 |
6.4e-21 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000213477
AA Change: Y62F
PolyPhen 2
Score 0.517 (Sensitivity: 0.88; Specificity: 0.90)
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000216420
AA Change: Y62F
PolyPhen 2
Score 0.517 (Sensitivity: 0.88; Specificity: 0.90)
|
| Meta Mutation Damage Score |
0.1712 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.4%
- 20x: 98.2%
|
| Validation Efficiency |
98% (40/41) |
| MGI Phenotype |
FUNCTION: Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 41 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Bcl7b |
G |
T |
5: 135,208,879 (GRCm39) |
S114I |
probably damaging |
Het |
| Cct8 |
A |
T |
16: 87,284,566 (GRCm39) |
M207K |
probably benign |
Het |
| Cnga1 |
A |
G |
5: 72,769,702 (GRCm39) |
|
probably null |
Het |
| Cst13 |
T |
C |
2: 148,670,111 (GRCm39) |
C94R |
probably damaging |
Het |
| Cyp8b1 |
G |
T |
9: 121,744,864 (GRCm39) |
S156* |
probably null |
Het |
| Dip2b |
T |
C |
15: 100,049,157 (GRCm39) |
S184P |
probably damaging |
Het |
| Dmbt1 |
T |
C |
7: 130,659,984 (GRCm39) |
W516R |
probably damaging |
Het |
| Dock8 |
A |
T |
19: 25,072,914 (GRCm39) |
Y398F |
possibly damaging |
Het |
| Drosha |
T |
A |
15: 12,889,803 (GRCm39) |
C890* |
probably null |
Het |
| Eed |
A |
G |
7: 89,626,149 (GRCm39) |
S75P |
probably benign |
Het |
| Efcab3 |
T |
C |
11: 104,885,143 (GRCm39) |
L4134S |
possibly damaging |
Het |
| Etaa1 |
A |
C |
11: 17,896,833 (GRCm39) |
I428S |
probably benign |
Het |
| F5 |
A |
T |
1: 164,021,062 (GRCm39) |
D1179V |
probably damaging |
Het |
| Fat1 |
T |
C |
8: 45,405,379 (GRCm39) |
V710A |
possibly damaging |
Het |
| Fmo4 |
G |
A |
1: 162,621,538 (GRCm39) |
Q558* |
probably null |
Het |
| Gm7361 |
A |
G |
5: 26,463,960 (GRCm39) |
I72V |
probably benign |
Het |
| Grm4 |
A |
G |
17: 27,654,294 (GRCm39) |
V552A |
probably benign |
Het |
| Krt13 |
T |
A |
11: 100,010,202 (GRCm39) |
I260F |
probably damaging |
Het |
| Krtap3-3 |
T |
C |
11: 99,441,490 (GRCm39) |
D49G |
probably damaging |
Het |
| Lpin1 |
T |
C |
12: 16,614,554 (GRCm39) |
E409G |
probably benign |
Het |
| Ly9 |
A |
G |
1: 171,428,576 (GRCm39) |
V238A |
possibly damaging |
Het |
| Map2k6 |
T |
C |
11: 110,381,703 (GRCm39) |
|
probably null |
Het |
| Mylk2 |
T |
C |
2: 152,759,315 (GRCm39) |
L362P |
probably damaging |
Het |
| Or4c120 |
T |
A |
2: 89,000,942 (GRCm39) |
I205F |
probably benign |
Het |
| Or4c3 |
A |
G |
2: 89,851,975 (GRCm39) |
V145A |
probably benign |
Het |
| Pcdha9 |
G |
A |
18: 37,130,972 (GRCm39) |
V14M |
probably benign |
Het |
| Pdzrn4 |
A |
T |
15: 92,578,418 (GRCm39) |
E380D |
probably damaging |
Het |
| Piezo2 |
A |
G |
18: 63,239,364 (GRCm39) |
Y739H |
possibly damaging |
Het |
| Pigk |
A |
G |
3: 152,446,486 (GRCm39) |
H195R |
probably benign |
Het |
| Plin2 |
T |
C |
4: 86,580,236 (GRCm39) |
D175G |
probably null |
Het |
| Plk4 |
T |
A |
3: 40,763,408 (GRCm39) |
H526Q |
probably benign |
Het |
| Pom121l12 |
A |
T |
11: 14,549,489 (GRCm39) |
D65V |
probably damaging |
Het |
| Prb1a |
T |
C |
6: 132,184,139 (GRCm39) |
Y498C |
unknown |
Het |
| Sh3bp2 |
G |
A |
5: 34,718,947 (GRCm39) |
V495I |
probably damaging |
Het |
| Slx4ip |
T |
A |
2: 136,888,669 (GRCm39) |
C117S |
probably damaging |
Het |
| Tmtc2 |
A |
T |
10: 105,409,551 (GRCm39) |
S20R |
probably benign |
Het |
| Unc79 |
A |
G |
12: 102,987,269 (GRCm39) |
Y186C |
probably damaging |
Het |
| Vmn2r106 |
C |
T |
17: 20,488,725 (GRCm39) |
C558Y |
probably damaging |
Het |
| Vmn2r26 |
T |
C |
6: 124,038,348 (GRCm39) |
L641P |
probably damaging |
Het |
| Wdr17 |
A |
T |
8: 55,114,495 (GRCm39) |
S674T |
probably benign |
Het |
| Zfp959 |
T |
C |
17: 56,202,854 (GRCm39) |
F10L |
probably damaging |
Het |
|
| Other mutations in Or51a6 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00334:Or51a6
|
APN |
7 |
102,604,311 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL02583:Or51a6
|
APN |
7 |
102,603,918 (GRCm39) |
missense |
possibly damaging |
0.96 |
|
R0003:Or51a6
|
UTSW |
7 |
102,604,185 (GRCm39) |
missense |
probably benign |
|
|
R1553:Or51a6
|
UTSW |
7 |
102,604,425 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R1641:Or51a6
|
UTSW |
7 |
102,604,175 (GRCm39) |
missense |
probably benign |
0.07 |
|
R1993:Or51a6
|
UTSW |
7 |
102,603,953 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4279:Or51a6
|
UTSW |
7 |
102,604,292 (GRCm39) |
missense |
probably benign |
0.03 |
|
R4905:Or51a6
|
UTSW |
7 |
102,604,721 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R5992:Or51a6
|
UTSW |
7 |
102,604,216 (GRCm39) |
missense |
probably benign |
0.25 |
|
R6122:Or51a6
|
UTSW |
7 |
102,604,737 (GRCm39) |
missense |
probably benign |
|
|
R6122:Or51a6
|
UTSW |
7 |
102,604,011 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6685:Or51a6
|
UTSW |
7 |
102,604,888 (GRCm39) |
splice site |
probably null |
|
|
R7109:Or51a6
|
UTSW |
7 |
102,604,460 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7117:Or51a6
|
UTSW |
7 |
102,604,185 (GRCm39) |
missense |
probably benign |
|
|
R7901:Or51a6
|
UTSW |
7 |
102,604,887 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R8136:Or51a6
|
UTSW |
7 |
102,604,448 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8299:Or51a6
|
UTSW |
7 |
102,604,739 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9063:Or51a6
|
UTSW |
7 |
102,604,446 (GRCm39) |
missense |
probably benign |
0.42 |
|
R9523:Or51a6
|
UTSW |
7 |
102,604,464 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9655:Or51a6
|
UTSW |
7 |
102,604,319 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9671:Or51a6
|
UTSW |
7 |
102,604,633 (GRCm39) |
missense |
probably benign |
0.27 |
|
Z1177:Or51a6
|
UTSW |
7 |
102,604,183 (GRCm39) |
missense |
probably benign |
0.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGAAGCACTGAGGACTCCATG -3'
(R):5'- GGAAGTGCCAATTCAGATCTCTACG -3'
Sequencing Primer
(F):5'- TCCATGTCAGTGAAGCCATG -3'
(R):5'- GCCAATTCAGATCTCTACGTAAATGC -3'
|
| Posted On |
2018-05-04 |
Incidental Mutation