Incidental Mutation 'R7717:Or10ak12'
| ID |
594966 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Or10ak12
|
| Ensembl Gene |
ENSMUSG00000066061 |
| Gene Name |
olfactory receptor family 10 subfamily AK member 12 |
| Synonyms |
GA_x6K02T2QD9B-18726774-18727577, MOR259-5, Olfr1334-ps1, Olfr1335, GA_x6K02T2QD9B-18723799-18724749, MOR259-12 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.104)
|
| Stock # |
R7717 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
4 |
| Chromosomal Location |
118666052-118667059 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 118666130 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Arginine
at position 310
(S310R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000151219
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000084313]
[ENSMUST00000219094]
|
| AlphaFold |
B2RVY8 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000084313
AA Change: S294R
PolyPhen 2
Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000081339
Gene: ENSMUSG00000066061
AA Change: S294R
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7tm_4
|
50 |
326 |
2.3e-56 |
PFAM |
|
Pfam:7TM_GPCR_Srsx
|
54 |
323 |
3.7e-8 |
PFAM |
|
Pfam:7tm_1
|
60 |
309 |
2.1e-26 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000219094
AA Change: S310R
PolyPhen 2
Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.2%
|
| Validation Efficiency |
|
| 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: 45 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgrf5 |
T |
C |
17: 43,761,644 (GRCm39) |
L1113P |
probably damaging |
Het |
| Aldh3b3 |
T |
C |
19: 4,013,970 (GRCm39) |
L57P |
probably damaging |
Het |
| Asb15 |
A |
G |
6: 24,559,251 (GRCm39) |
D132G |
probably benign |
Het |
| Cep290 |
C |
T |
10: 100,328,543 (GRCm39) |
R111W |
probably benign |
Het |
| Cfap44 |
A |
G |
16: 44,250,298 (GRCm39) |
D792G |
probably damaging |
Het |
| Col20a1 |
C |
T |
2: 180,649,408 (GRCm39) |
R1029W |
probably damaging |
Het |
| Csf3r |
A |
G |
4: 125,931,403 (GRCm39) |
Y462C |
probably damaging |
Het |
| Cthrc1 |
T |
C |
15: 38,940,511 (GRCm39) |
V38A |
probably benign |
Het |
| Cxcr2 |
T |
C |
1: 74,197,998 (GRCm39) |
V164A |
probably benign |
Het |
| Efr3b |
A |
G |
12: 4,034,574 (GRCm39) |
S199P |
probably damaging |
Het |
| Elavl4 |
A |
G |
4: 110,063,663 (GRCm39) |
C342R |
probably damaging |
Het |
| Gemin5 |
A |
T |
11: 58,042,356 (GRCm39) |
|
probably null |
Het |
| Gm14190 |
A |
T |
11: 99,581,476 (GRCm39) |
C31S |
unknown |
Het |
| Golt1b |
T |
A |
6: 142,339,769 (GRCm39) |
V78D |
probably damaging |
Het |
| Gsdmc3 |
T |
A |
15: 63,741,061 (GRCm39) |
D29V |
probably damaging |
Het |
| Itih1 |
T |
A |
14: 30,653,142 (GRCm39) |
D766V |
probably damaging |
Het |
| Larp1b |
C |
T |
3: 40,926,879 (GRCm39) |
S251F |
probably damaging |
Het |
| Lrp8 |
A |
G |
4: 107,691,940 (GRCm39) |
T115A |
probably benign |
Het |
| Lrrc37a |
A |
G |
11: 103,395,126 (GRCm39) |
S100P |
probably benign |
Het |
| Lss |
T |
C |
10: 76,381,286 (GRCm39) |
V424A |
possibly damaging |
Het |
| Ltbp1 |
T |
C |
17: 75,597,073 (GRCm39) |
V568A |
possibly damaging |
Het |
| Myo10 |
A |
T |
15: 25,732,056 (GRCm39) |
T311S |
probably benign |
Het |
| Nsd3 |
T |
C |
8: 26,172,578 (GRCm39) |
V779A |
probably benign |
Het |
| Or11h23 |
T |
A |
14: 50,948,219 (GRCm39) |
L144Q |
probably damaging |
Het |
| Or2ag16 |
A |
G |
7: 106,351,843 (GRCm39) |
W251R |
possibly damaging |
Het |
| Or2n1e |
C |
A |
17: 38,586,471 (GRCm39) |
Q270K |
probably damaging |
Het |
| Or51v8 |
T |
C |
7: 103,320,152 (GRCm39) |
T29A |
probably benign |
Het |
| Or5b21 |
A |
T |
19: 12,839,159 (GRCm39) |
I7F |
probably benign |
Het |
| Pak1 |
T |
A |
7: 97,535,555 (GRCm39) |
D215E |
probably benign |
Het |
| Pde7b |
A |
G |
10: 20,282,937 (GRCm39) |
F355L |
probably benign |
Het |
| Phaf1 |
C |
A |
8: 105,978,236 (GRCm39) |
Q397K |
probably benign |
Het |
| Pi4ka |
A |
G |
16: 17,194,787 (GRCm39) |
S204P |
|
Het |
| Pirb |
T |
C |
7: 3,720,782 (GRCm39) |
K239E |
not run |
Het |
| Pirb |
C |
T |
7: 3,720,800 (GRCm39) |
G233R |
not run |
Het |
| Pnp |
G |
A |
14: 51,188,460 (GRCm39) |
M211I |
probably benign |
Het |
| Pot1a |
A |
T |
6: 25,758,822 (GRCm39) |
L319Q |
probably benign |
Het |
| Rspry1 |
G |
T |
8: 95,349,750 (GRCm39) |
C46F |
probably damaging |
Het |
| Sanbr |
A |
C |
11: 23,556,757 (GRCm39) |
C408G |
probably benign |
Het |
| Sec11c |
C |
T |
18: 65,945,783 (GRCm39) |
T82M |
possibly damaging |
Het |
| Secisbp2 |
T |
C |
13: 51,827,134 (GRCm39) |
V414A |
probably benign |
Het |
| Tenm2 |
A |
G |
11: 36,755,762 (GRCm39) |
F79L |
probably damaging |
Het |
| Vmn2r2 |
A |
G |
3: 64,042,019 (GRCm39) |
V232A |
possibly damaging |
Het |
| Zbtb17 |
T |
C |
4: 141,193,394 (GRCm39) |
S593P |
probably damaging |
Het |
| Zfp143 |
T |
G |
7: 109,685,427 (GRCm39) |
C419G |
possibly damaging |
Het |
| Zfp804b |
T |
C |
5: 6,821,293 (GRCm39) |
N590S |
possibly damaging |
Het |
|
| Other mutations in Or10ak12 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01096:Or10ak12
|
APN |
4 |
118,666,653 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL02481:Or10ak12
|
APN |
4 |
118,666,696 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL02483:Or10ak12
|
APN |
4 |
118,666,696 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0058:Or10ak12
|
UTSW |
4 |
118,666,677 (GRCm39) |
missense |
probably benign |
|
|
R0069:Or10ak12
|
UTSW |
4 |
118,666,887 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0357:Or10ak12
|
UTSW |
4 |
118,666,614 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1274:Or10ak12
|
UTSW |
4 |
118,666,593 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1432:Or10ak12
|
UTSW |
4 |
118,666,435 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2305:Or10ak12
|
UTSW |
4 |
118,666,058 (GRCm39) |
missense |
probably benign |
0.35 |
|
R2368:Or10ak12
|
UTSW |
4 |
118,667,019 (GRCm39) |
missense |
probably benign |
|
|
R3842:Or10ak12
|
UTSW |
4 |
118,666,452 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3980:Or10ak12
|
UTSW |
4 |
118,666,500 (GRCm39) |
missense |
probably benign |
0.22 |
|
R4722:Or10ak12
|
UTSW |
4 |
118,666,146 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5074:Or10ak12
|
UTSW |
4 |
118,666,057 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R5439:Or10ak12
|
UTSW |
4 |
118,666,560 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R5930:Or10ak12
|
UTSW |
4 |
118,666,575 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6917:Or10ak12
|
UTSW |
4 |
118,666,326 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7287:Or10ak12
|
UTSW |
4 |
118,666,939 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7525:Or10ak12
|
UTSW |
4 |
118,666,691 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8293:Or10ak12
|
UTSW |
4 |
118,666,939 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8765:Or10ak12
|
UTSW |
4 |
118,666,159 (GRCm39) |
missense |
probably benign |
0.05 |
|
R8877:Or10ak12
|
UTSW |
4 |
118,666,482 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R9165:Or10ak12
|
UTSW |
4 |
118,666,195 (GRCm39) |
nonsense |
probably null |
|
|
R9689:Or10ak12
|
UTSW |
4 |
118,666,999 (GRCm39) |
missense |
probably benign |
|
|
X0023:Or10ak12
|
UTSW |
4 |
118,666,818 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- TATAGGGGACTTTCGGGATAGAATG -3'
(R):5'- TTCTCAAGATTAAGTCCACCCAGG -3'
Sequencing Primer
(F):5'- GACTTTCGGGATAGAATGAAACG -3'
(R):5'- GGGCGCTGCAAGGCTTTC -3'
|
| Posted On |
2019-11-12 |
Incidental Mutation