Incidental Mutation 'R4466:Or8b36'
| ID |
330356 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Or8b36
|
| Ensembl Gene |
ENSMUSG00000094461 |
| Gene Name |
olfactory receptor family 8 subfamily B member 36 |
| Synonyms |
MOR162-6, Olfr883, GA_x6K02T2PVTD-31705144-31706073 |
| MMRRC Submission |
041723-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.106)
|
| Stock # |
R4466 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
9 |
| Chromosomal Location |
37937104-37938033 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 37937479 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Cysteine to Serine
at position 126
(C126S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000072741
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000072974]
|
| AlphaFold |
Q8VF64 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000072974
AA Change: C126S
PolyPhen 2
Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000072741
Gene: ENSMUSG00000094461
AA Change: C126S
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7tm_4
|
31 |
306 |
1.6e-48 |
PFAM |
|
Pfam:7tm_1
|
41 |
288 |
3.7e-24 |
PFAM |
|
| Meta Mutation Damage Score |
0.5311 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.4%
|
| Validation Efficiency |
98% (55/56) |
| 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: 49 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930449A18Rik |
A |
T |
3: 59,745,887 (GRCm39) |
|
noncoding transcript |
Het |
| Adgra1 |
T |
A |
7: 139,420,752 (GRCm39) |
|
probably benign |
Het |
| Akap13 |
T |
A |
7: 75,252,521 (GRCm39) |
|
probably null |
Het |
| Amn1 |
T |
C |
6: 149,068,343 (GRCm39) |
|
probably null |
Het |
| Ano5 |
T |
A |
7: 51,220,023 (GRCm39) |
F374I |
probably damaging |
Het |
| Apol7c |
T |
C |
15: 77,410,664 (GRCm39) |
E94G |
probably benign |
Het |
| Arid4b |
A |
T |
13: 14,307,095 (GRCm39) |
S117C |
probably damaging |
Het |
| Atm |
C |
A |
9: 53,359,469 (GRCm39) |
E2778* |
probably null |
Het |
| Cped1 |
A |
T |
6: 22,123,651 (GRCm39) |
Q468L |
probably benign |
Het |
| Crygb |
A |
G |
1: 65,119,645 (GRCm39) |
S112P |
probably damaging |
Het |
| Eeig2 |
T |
A |
3: 108,887,124 (GRCm39) |
R291S |
probably benign |
Het |
| Eml4 |
C |
T |
17: 83,729,103 (GRCm39) |
Q93* |
probably null |
Het |
| Eps15 |
G |
A |
4: 109,223,727 (GRCm39) |
|
probably benign |
Het |
| Fabp3 |
C |
T |
4: 130,206,180 (GRCm39) |
T57I |
probably benign |
Het |
| Fhad1 |
A |
T |
4: 141,684,969 (GRCm39) |
S457T |
probably damaging |
Het |
| Frmd4b |
A |
G |
6: 97,300,614 (GRCm39) |
|
probably null |
Het |
| Gm5134 |
G |
C |
10: 75,844,409 (GRCm39) |
K588N |
probably benign |
Het |
| Gpr21 |
A |
G |
2: 37,407,570 (GRCm39) |
T39A |
probably benign |
Het |
| Irx1 |
C |
A |
13: 72,108,101 (GRCm39) |
G194W |
probably damaging |
Het |
| Itgal |
C |
T |
7: 126,927,684 (GRCm39) |
T992I |
possibly damaging |
Het |
| Itpr3 |
T |
C |
17: 27,325,316 (GRCm39) |
L1303P |
probably damaging |
Het |
| Kdm2a |
A |
T |
19: 4,370,328 (GRCm39) |
D1052E |
probably damaging |
Het |
| Klhl6 |
T |
C |
16: 19,776,018 (GRCm39) |
D180G |
probably damaging |
Het |
| M6pr |
A |
G |
6: 122,290,228 (GRCm39) |
T64A |
probably benign |
Het |
| Mrpl47 |
G |
A |
3: 32,784,240 (GRCm39) |
R177* |
probably null |
Het |
| Mtfr2 |
A |
G |
10: 20,224,159 (GRCm39) |
Y31C |
probably damaging |
Het |
| Mup6 |
T |
C |
4: 60,004,000 (GRCm39) |
I31T |
probably damaging |
Het |
| Oas2 |
A |
G |
5: 120,887,667 (GRCm39) |
S58P |
probably damaging |
Het |
| Or1j11 |
A |
T |
2: 36,312,308 (GRCm39) |
R299S |
probably benign |
Het |
| Or5b124 |
G |
A |
19: 13,610,801 (GRCm39) |
E109K |
probably damaging |
Het |
| Polr1b |
A |
T |
2: 128,965,802 (GRCm39) |
I815L |
probably benign |
Het |
| Psma8 |
T |
C |
18: 14,854,231 (GRCm39) |
I37T |
possibly damaging |
Het |
| Ryr3 |
T |
C |
2: 112,483,447 (GRCm39) |
E4100G |
possibly damaging |
Het |
| Serpina3g |
C |
T |
12: 104,204,182 (GRCm39) |
|
probably benign |
Het |
| Serpina3m |
A |
T |
12: 104,357,874 (GRCm39) |
Y266F |
probably damaging |
Het |
| Sez6l2 |
T |
A |
7: 126,559,023 (GRCm39) |
D423E |
probably damaging |
Het |
| Sh3gl2 |
A |
G |
4: 85,299,688 (GRCm39) |
E224G |
possibly damaging |
Het |
| Sh3pxd2a |
A |
G |
19: 47,353,146 (GRCm39) |
V105A |
possibly damaging |
Het |
| Slc24a2 |
A |
T |
4: 87,146,099 (GRCm39) |
|
probably benign |
Het |
| Smyd2 |
A |
G |
1: 189,614,349 (GRCm39) |
M393T |
probably benign |
Het |
| Sox8 |
C |
A |
17: 25,787,879 (GRCm39) |
G190V |
probably benign |
Het |
| Stag2 |
A |
G |
X: 41,322,749 (GRCm39) |
S400G |
probably benign |
Het |
| Stk35 |
C |
A |
2: 129,643,436 (GRCm39) |
T140K |
probably damaging |
Het |
| Taf6 |
A |
C |
5: 138,179,463 (GRCm39) |
|
probably benign |
Het |
| Ten1 |
A |
C |
11: 116,095,823 (GRCm39) |
|
probably benign |
Het |
| Tmem181a |
T |
A |
17: 6,346,061 (GRCm39) |
L185H |
probably damaging |
Het |
| Ttn |
A |
G |
2: 76,544,044 (GRCm39) |
F32981L |
probably damaging |
Het |
| Zik1 |
G |
T |
7: 10,224,893 (GRCm39) |
T68K |
probably benign |
Het |
| Zzef1 |
T |
A |
11: 72,815,485 (GRCm39) |
I2935N |
probably damaging |
Het |
|
| Other mutations in Or8b36 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00980:Or8b36
|
APN |
9 |
37,937,107 (GRCm39) |
missense |
probably benign |
0.02 |
|
IGL02092:Or8b36
|
APN |
9 |
37,937,917 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
IGL02351:Or8b36
|
APN |
9 |
37,937,332 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
IGL02358:Or8b36
|
APN |
9 |
37,937,332 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
IGL02807:Or8b36
|
APN |
9 |
37,937,485 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0972:Or8b36
|
UTSW |
9 |
37,937,856 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R1016:Or8b36
|
UTSW |
9 |
37,937,987 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R1818:Or8b36
|
UTSW |
9 |
37,937,803 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4871:Or8b36
|
UTSW |
9 |
37,937,822 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5977:Or8b36
|
UTSW |
9 |
37,937,836 (GRCm39) |
frame shift |
probably null |
|
|
R5979:Or8b36
|
UTSW |
9 |
37,937,836 (GRCm39) |
frame shift |
probably null |
|
|
R6026:Or8b36
|
UTSW |
9 |
37,937,836 (GRCm39) |
frame shift |
probably null |
|
|
R6027:Or8b36
|
UTSW |
9 |
37,937,836 (GRCm39) |
frame shift |
probably null |
|
|
R6029:Or8b36
|
UTSW |
9 |
37,937,836 (GRCm39) |
frame shift |
probably null |
|
|
R6035:Or8b36
|
UTSW |
9 |
37,937,836 (GRCm39) |
frame shift |
probably null |
|
|
R6035:Or8b36
|
UTSW |
9 |
37,937,836 (GRCm39) |
frame shift |
probably null |
|
|
R6053:Or8b36
|
UTSW |
9 |
37,937,837 (GRCm39) |
frame shift |
probably null |
|
|
R6092:Or8b36
|
UTSW |
9 |
37,937,836 (GRCm39) |
frame shift |
probably null |
|
|
R6106:Or8b36
|
UTSW |
9 |
37,937,762 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6131:Or8b36
|
UTSW |
9 |
37,937,836 (GRCm39) |
frame shift |
probably null |
|
|
R6132:Or8b36
|
UTSW |
9 |
37,937,836 (GRCm39) |
frame shift |
probably null |
|
|
R6133:Or8b36
|
UTSW |
9 |
37,937,836 (GRCm39) |
frame shift |
probably null |
|
|
R6134:Or8b36
|
UTSW |
9 |
37,937,836 (GRCm39) |
frame shift |
probably null |
|
|
R6153:Or8b36
|
UTSW |
9 |
37,937,836 (GRCm39) |
frame shift |
probably null |
|
|
R6251:Or8b36
|
UTSW |
9 |
37,937,842 (GRCm39) |
frame shift |
probably null |
|
|
R6251:Or8b36
|
UTSW |
9 |
37,937,841 (GRCm39) |
frame shift |
probably null |
|
|
R6251:Or8b36
|
UTSW |
9 |
37,937,833 (GRCm39) |
frame shift |
probably null |
|
|
R6251:Or8b36
|
UTSW |
9 |
37,937,844 (GRCm39) |
frame shift |
probably null |
|
|
R6300:Or8b36
|
UTSW |
9 |
37,937,836 (GRCm39) |
frame shift |
probably null |
|
|
R6301:Or8b36
|
UTSW |
9 |
37,937,836 (GRCm39) |
frame shift |
probably null |
|
|
R6305:Or8b36
|
UTSW |
9 |
37,937,838 (GRCm39) |
frame shift |
probably null |
|
|
R6305:Or8b36
|
UTSW |
9 |
37,937,836 (GRCm39) |
frame shift |
probably null |
|
|
R6307:Or8b36
|
UTSW |
9 |
37,937,836 (GRCm39) |
frame shift |
probably null |
|
|
R6312:Or8b36
|
UTSW |
9 |
37,937,842 (GRCm39) |
frame shift |
probably null |
|
|
R6312:Or8b36
|
UTSW |
9 |
37,937,837 (GRCm39) |
frame shift |
probably null |
|
|
R6312:Or8b36
|
UTSW |
9 |
37,937,836 (GRCm39) |
frame shift |
probably null |
|
|
R6312:Or8b36
|
UTSW |
9 |
37,937,845 (GRCm39) |
frame shift |
probably null |
|
|
R6312:Or8b36
|
UTSW |
9 |
37,937,843 (GRCm39) |
nonsense |
probably null |
|
|
R6813:Or8b36
|
UTSW |
9 |
37,937,129 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7134:Or8b36
|
UTSW |
9 |
37,937,795 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7775:Or8b36
|
UTSW |
9 |
37,937,963 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7778:Or8b36
|
UTSW |
9 |
37,937,963 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7984:Or8b36
|
UTSW |
9 |
37,937,155 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8326:Or8b36
|
UTSW |
9 |
37,938,014 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9154:Or8b36
|
UTSW |
9 |
37,937,690 (GRCm39) |
nonsense |
probably null |
|
|
| Predicted Primers |
PCR Primer
(F):5'- ACCTGGGCTTGACTGTTCTG -3'
(R):5'- AGGAAGTATGTCACATGCATAGTG -3'
Sequencing Primer
(F):5'- GTTTTGAATCCTCACCTGCACAAC -3'
(R):5'- GTGATTAATAATGTTGCCATCACAG -3'
|
| Posted On |
2015-07-21 |
Incidental Mutation