Incidental Mutation 'R4364:Or8b12c'
| ID |
325673 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Or8b12c
|
| Ensembl Gene |
ENSMUSG00000066750 |
| Gene Name |
olfactory receptor family 8 subfamily B member 12C |
| Synonyms |
Olfr876, MOR161-1, GA_x6K02T2PVTD-31489645-31490577 |
| MMRRC Submission |
041672-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.108)
|
| Stock # |
R4364 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
9 |
| Chromosomal Location |
37715185-37716232 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 37715486 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Leucine
at position 93
(H93L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000149930
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000086064]
[ENSMUST00000213368]
[ENSMUST00000215287]
|
| AlphaFold |
Q7TRE4 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000086064
AA Change: H93L
PolyPhen 2
Score 0.192 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000083231
Gene: ENSMUSG00000066750
AA Change: H93L
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7tm_4
|
30 |
307 |
1.6e-47 |
PFAM |
|
Pfam:7tm_1
|
40 |
289 |
3.2e-23 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000213368
AA Change: H93L
PolyPhen 2
Score 0.192 (Sensitivity: 0.92; Specificity: 0.87)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000215287
AA Change: H93L
PolyPhen 2
Score 0.192 (Sensitivity: 0.92; Specificity: 0.87)
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.5%
- 10x: 96.8%
- 20x: 93.8%
|
| Validation Efficiency |
93% (40/43) |
| 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: 34 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Amn |
A |
C |
12: 111,238,196 (GRCm39) |
N37H |
probably damaging |
Het |
| Apoa5 |
A |
T |
9: 46,181,827 (GRCm39) |
D301V |
probably damaging |
Het |
| Atrn |
A |
G |
2: 130,812,128 (GRCm39) |
E691G |
probably benign |
Het |
| Ccer1 |
CGAGGAGGAGGAGGAGGAGGA |
CGAGGAGGAGGAGGAGGA |
10: 97,530,232 (GRCm39) |
|
probably benign |
Het |
| Cct2 |
A |
G |
10: 116,891,056 (GRCm39) |
V396A |
probably damaging |
Het |
| Dhx35 |
C |
T |
2: 158,684,272 (GRCm39) |
Q516* |
probably null |
Het |
| Dop1b |
A |
G |
16: 93,567,812 (GRCm39) |
K1413R |
probably benign |
Het |
| Dpp9 |
T |
C |
17: 56,494,391 (GRCm39) |
H856R |
possibly damaging |
Het |
| Eif4e2 |
T |
C |
1: 87,152,093 (GRCm39) |
F97L |
probably benign |
Het |
| Exoc6b |
A |
T |
6: 84,980,161 (GRCm39) |
|
probably benign |
Het |
| Fat1 |
T |
A |
8: 45,405,999 (GRCm39) |
S917T |
probably benign |
Het |
| Frem1 |
A |
T |
4: 82,831,488 (GRCm39) |
Y2043N |
probably damaging |
Het |
| Galnt14 |
A |
G |
17: 73,819,154 (GRCm39) |
I312T |
probably damaging |
Het |
| Glipr1 |
T |
C |
10: 111,821,542 (GRCm39) |
N220S |
possibly damaging |
Het |
| Grid1 |
A |
G |
14: 34,667,989 (GRCm39) |
E172G |
probably benign |
Het |
| Hspa4l |
C |
A |
3: 40,721,241 (GRCm39) |
|
probably null |
Het |
| Il1rl2 |
G |
T |
1: 40,390,951 (GRCm39) |
R298L |
probably benign |
Het |
| Il7r |
T |
A |
15: 9,513,014 (GRCm39) |
H165L |
probably damaging |
Het |
| Krt87 |
T |
G |
15: 101,385,395 (GRCm39) |
M326L |
probably benign |
Het |
| Lcn10 |
G |
T |
2: 25,574,052 (GRCm39) |
C85F |
probably damaging |
Het |
| Mideas |
C |
T |
12: 84,203,245 (GRCm39) |
G886S |
probably benign |
Het |
| Nup205 |
C |
A |
6: 35,168,962 (GRCm39) |
P397Q |
probably benign |
Het |
| Or4d10 |
A |
G |
19: 12,051,861 (GRCm39) |
V45A |
probably benign |
Het |
| Or4f17-ps1 |
G |
A |
2: 111,357,985 (GRCm39) |
V127M |
probably benign |
Het |
| Prkce |
C |
T |
17: 86,784,279 (GRCm39) |
T218I |
probably damaging |
Het |
| Rhbdl2 |
T |
A |
4: 123,703,728 (GRCm39) |
M1K |
probably null |
Het |
| Ripor2 |
C |
T |
13: 24,905,694 (GRCm39) |
P947S |
probably benign |
Het |
| Shoc1 |
T |
G |
4: 59,082,294 (GRCm39) |
T445P |
possibly damaging |
Het |
| Shroom3 |
G |
T |
5: 93,090,945 (GRCm39) |
V1151F |
probably damaging |
Het |
| Sptbn5 |
A |
G |
2: 119,899,136 (GRCm39) |
L428P |
probably damaging |
Het |
| Syne1 |
A |
G |
10: 5,303,987 (GRCm39) |
V789A |
probably damaging |
Het |
| Taar8c |
C |
T |
10: 23,977,477 (GRCm39) |
V112M |
probably benign |
Het |
| Tex10 |
T |
C |
4: 48,468,774 (GRCm39) |
I51V |
probably benign |
Het |
| Ttll1 |
T |
A |
15: 83,384,195 (GRCm39) |
Q144L |
probably damaging |
Het |
|
| Other mutations in Or8b12c |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00973:Or8b12c
|
APN |
9 |
37,716,078 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01330:Or8b12c
|
APN |
9 |
37,715,516 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02105:Or8b12c
|
APN |
9 |
37,715,891 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
IGL02505:Or8b12c
|
APN |
9 |
37,715,627 (GRCm39) |
missense |
probably benign |
0.08 |
|
R1543:Or8b12c
|
UTSW |
9 |
37,715,243 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R1768:Or8b12c
|
UTSW |
9 |
37,715,599 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1960:Or8b12c
|
UTSW |
9 |
37,715,242 (GRCm39) |
missense |
probably benign |
0.01 |
|
R2567:Or8b12c
|
UTSW |
9 |
37,715,509 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3815:Or8b12c
|
UTSW |
9 |
37,715,465 (GRCm39) |
missense |
probably benign |
0.05 |
|
R3816:Or8b12c
|
UTSW |
9 |
37,715,465 (GRCm39) |
missense |
probably benign |
0.05 |
|
R3817:Or8b12c
|
UTSW |
9 |
37,715,465 (GRCm39) |
missense |
probably benign |
0.05 |
|
R3819:Or8b12c
|
UTSW |
9 |
37,715,465 (GRCm39) |
missense |
probably benign |
0.05 |
|
R4366:Or8b12c
|
UTSW |
9 |
37,715,486 (GRCm39) |
missense |
probably benign |
0.19 |
|
R4620:Or8b12c
|
UTSW |
9 |
37,716,115 (GRCm39) |
missense |
probably benign |
0.02 |
|
R5530:Or8b12c
|
UTSW |
9 |
37,716,103 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6199:Or8b12c
|
UTSW |
9 |
37,716,177 (GRCm39) |
splice site |
probably null |
|
|
R6238:Or8b12c
|
UTSW |
9 |
37,715,317 (GRCm39) |
missense |
probably benign |
0.26 |
|
R6893:Or8b12c
|
UTSW |
9 |
37,716,141 (GRCm39) |
makesense |
probably null |
|
|
R7404:Or8b12c
|
UTSW |
9 |
37,715,257 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R7806:Or8b12c
|
UTSW |
9 |
37,715,872 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8855:Or8b12c
|
UTSW |
9 |
37,715,709 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGTTCATCCTTGCAGGCCTG -3'
(R):5'- GTCAGCCTTGCCATGGATATG -3'
Sequencing Primer
(F):5'- ATCCTTGCAGGCCTGACAGAC -3'
(R):5'- GGGCCATGGCTCCAACAAAAC -3'
|
| Posted On |
2015-07-06 |
Incidental Mutation