Incidental Mutation 'R3842:Or10ak12'
ID |
277197 |
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 |
MMRRC Submission |
040782-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.104)
|
Stock # |
R3842 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
4 |
Chromosomal Location |
118666052-118667059 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 118666452 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Alanine
at position 203
(V203A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000151219
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000084313]
[ENSMUST00000105035]
[ENSMUST00000219094]
|
AlphaFold |
B2RVY8 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000084313
AA Change: V187A
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000081339 Gene: ENSMUSG00000066061 AA Change: V187A
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: ENSMUST00000105035
AA Change: V187A
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
SMART Domains |
Protein: ENSMUSP00000100652 Gene: ENSMUSG00000073768 AA Change: V187A
Domain | Start | End | E-Value | Type |
Pfam:7TM_GPCR_Srsx
|
38 |
307 |
6.4e-8 |
PFAM |
Pfam:7tm_1
|
44 |
293 |
2.9e-31 |
PFAM |
Pfam:7tm_4
|
142 |
286 |
6.7e-46 |
PFAM |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000219094
AA Change: V203A
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
Meta Mutation Damage Score |
0.6467 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 94.7%
|
Validation Efficiency |
100% (37/37) |
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: 35 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acox2 |
C |
T |
14: 8,251,543 (GRCm38) |
R318H |
probably damaging |
Het |
Adamts16 |
T |
C |
13: 70,887,010 (GRCm39) |
Y958C |
possibly damaging |
Het |
Apol7e |
A |
G |
15: 77,601,789 (GRCm39) |
E129G |
probably damaging |
Het |
Bmp2k |
A |
G |
5: 97,235,010 (GRCm39) |
|
probably benign |
Het |
Camk2g |
T |
C |
14: 20,814,966 (GRCm39) |
H26R |
probably damaging |
Het |
Cpn2 |
A |
G |
16: 30,079,336 (GRCm39) |
S122P |
probably damaging |
Het |
Dhcr24 |
G |
T |
4: 106,443,002 (GRCm39) |
G346C |
probably damaging |
Het |
Egf |
G |
A |
3: 129,491,442 (GRCm39) |
R351* |
probably null |
Het |
Exosc10 |
T |
A |
4: 148,648,322 (GRCm39) |
Y260* |
probably null |
Het |
Fabp3 |
C |
T |
4: 130,206,180 (GRCm39) |
T57I |
probably benign |
Het |
Fam83h |
C |
T |
15: 75,874,499 (GRCm39) |
R946K |
probably benign |
Het |
Fbxo30 |
A |
G |
10: 11,165,856 (GRCm39) |
S193G |
probably damaging |
Het |
Grik3 |
T |
C |
4: 125,587,747 (GRCm39) |
|
probably benign |
Het |
Gtf3c6 |
A |
T |
10: 40,130,317 (GRCm39) |
|
probably null |
Het |
Hivep1 |
T |
C |
13: 42,311,203 (GRCm39) |
S1148P |
probably benign |
Het |
Hmgb2 |
T |
A |
8: 57,966,388 (GRCm39) |
S121T |
probably benign |
Het |
Hyal2 |
T |
C |
9: 107,449,320 (GRCm39) |
S359P |
probably damaging |
Het |
Itgbl1 |
A |
G |
14: 124,077,977 (GRCm39) |
T156A |
possibly damaging |
Het |
Lrrk2 |
C |
A |
15: 91,640,119 (GRCm39) |
Q1555K |
probably benign |
Het |
Myom1 |
T |
C |
17: 71,352,619 (GRCm39) |
V349A |
probably damaging |
Het |
Naa40 |
A |
T |
19: 7,207,174 (GRCm39) |
|
probably benign |
Het |
Ncam2 |
A |
G |
16: 81,231,698 (GRCm39) |
Y54C |
probably damaging |
Het |
Nemf |
C |
T |
12: 69,378,723 (GRCm39) |
S533N |
probably damaging |
Het |
Nkain1 |
T |
A |
4: 130,537,296 (GRCm38) |
I80F |
probably damaging |
Het |
Or2ag13 |
G |
A |
7: 106,473,302 (GRCm39) |
T50I |
probably benign |
Het |
Or9k2 |
G |
A |
10: 129,998,770 (GRCm39) |
R142C |
probably benign |
Het |
Pde3b |
T |
C |
7: 114,126,102 (GRCm39) |
S779P |
probably damaging |
Het |
Prkar2a |
A |
G |
9: 108,605,467 (GRCm39) |
Y175C |
probably damaging |
Het |
Slc44a5 |
T |
C |
3: 153,967,031 (GRCm39) |
|
probably benign |
Het |
Smgc |
T |
A |
15: 91,744,460 (GRCm39) |
|
probably benign |
Het |
Tasp1 |
T |
A |
2: 139,793,421 (GRCm39) |
S252C |
probably damaging |
Het |
Tgfbrap1 |
A |
T |
1: 43,098,314 (GRCm39) |
Y489N |
probably damaging |
Het |
Topors |
C |
T |
4: 40,262,123 (GRCm39) |
R387H |
probably benign |
Het |
Ttn |
A |
G |
2: 76,619,963 (GRCm39) |
S15902P |
probably damaging |
Het |
Ttn |
T |
C |
2: 76,680,647 (GRCm39) |
|
probably null |
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 |
|
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 |
R7717:Or10ak12
|
UTSW |
4 |
118,666,130 (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'- GGTAGAGAAAGCCTTGCAGC -3'
(R):5'- GGGTATGACAGAGAGCATCC -3'
Sequencing Primer
(F):5'- CGCCCCTGGGTGGACTTAATC -3'
(R):5'- GGTATGTGGCCATTTGCTATCCAC -3'
|
Posted On |
2015-04-06 |