Incidental Mutation 'R3842:Or2ag13'
| ID |
277205 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Or2ag13
|
| Ensembl Gene |
ENSMUSG00000108948 |
| Gene Name |
olfactory receptor family 2 subfamily AG member 13 |
| Synonyms |
Olfr695, GA_x6K02T2PBJ9-9092181-9091234, MOR283-6 |
| MMRRC Submission |
040782-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.121)
|
| Stock # |
R3842 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
106312939-106315552 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 106473302 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Isoleucine
at position 50
(T50I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000150853
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000060879]
[ENSMUST00000213721]
[ENSMUST00000216009]
|
| AlphaFold |
Q8VFM3 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000060879
AA Change: T50I
PolyPhen 2
Score 0.066 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000050694
Gene: ENSMUSG00000109058
AA Change: T50I
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7tm_4
|
31 |
307 |
5.2e-46 |
PFAM |
|
Pfam:7TM_GPCR_Srsx
|
35 |
296 |
1.8e-6 |
PFAM |
|
Pfam:7tm_1
|
41 |
290 |
2.1e-26 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000213721
AA Change: T50I
PolyPhen 2
Score 0.066 (Sensitivity: 0.94; Specificity: 0.84)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000216009
AA Change: T50I
PolyPhen 2
Score 0.066 (Sensitivity: 0.94; Specificity: 0.84)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000217164
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000217204
|
| Meta Mutation Damage Score |
0.1722 |
| 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 |
| Or10ak12 |
A |
G |
4: 118,666,452 (GRCm39) |
V203A |
probably damaging |
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 Or2ag13 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01010:Or2ag13
|
APN |
7 |
106,473,460 (GRCm39) |
utr 5 prime |
probably benign |
|
|
IGL02143:Or2ag13
|
APN |
7 |
106,473,180 (GRCm39) |
missense |
probably benign |
0.02 |
|
R0492:Or2ag13
|
UTSW |
7 |
106,473,084 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1816:Or2ag13
|
UTSW |
7 |
106,472,695 (GRCm39) |
nonsense |
probably null |
|
|
R1834:Or2ag13
|
UTSW |
7 |
106,473,348 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2011:Or2ag13
|
UTSW |
7 |
106,472,634 (GRCm39) |
missense |
probably benign |
0.03 |
|
R3434:Or2ag13
|
UTSW |
7 |
106,472,976 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4405:Or2ag13
|
UTSW |
7 |
106,472,580 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4742:Or2ag13
|
UTSW |
7 |
106,472,635 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4815:Or2ag13
|
UTSW |
7 |
106,473,444 (GRCm39) |
missense |
probably benign |
|
|
R4851:Or2ag13
|
UTSW |
7 |
106,473,221 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4856:Or2ag13
|
UTSW |
7 |
106,473,177 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5663:Or2ag13
|
UTSW |
7 |
106,472,877 (GRCm39) |
missense |
probably benign |
0.43 |
|
R5783:Or2ag13
|
UTSW |
7 |
106,472,541 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R6552:Or2ag13
|
UTSW |
7 |
106,313,850 (GRCm39) |
small deletion |
probably benign |
|
|
R6640:Or2ag13
|
UTSW |
7 |
106,313,247 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6798:Or2ag13
|
UTSW |
7 |
106,313,402 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7365:Or2ag13
|
UTSW |
7 |
106,313,171 (GRCm39) |
missense |
probably benign |
0.03 |
|
R7496:Or2ag13
|
UTSW |
7 |
106,313,435 (GRCm39) |
missense |
probably benign |
0.23 |
|
R7923:Or2ag13
|
UTSW |
7 |
106,313,649 (GRCm39) |
nonsense |
probably null |
|
|
R9012:Or2ag13
|
UTSW |
7 |
106,313,115 (GRCm39) |
missense |
probably benign |
0.10 |
|
R9572:Or2ag13
|
UTSW |
7 |
106,313,546 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9596:Or2ag13
|
UTSW |
7 |
106,313,412 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9756:Or2ag13
|
UTSW |
7 |
106,313,002 (GRCm39) |
missense |
probably benign |
|
|
| Predicted Primers |
PCR Primer
(F):5'- GTCAGTGCCAGGAACATCTG -3'
(R):5'- AGTGATCTGCAGTAGTTCTAAGG -3'
Sequencing Primer
(F):5'- CATCTGGAGGGAACAGCC -3'
(R):5'- AGGTGGTTTGAACTCCCTTAGAAAG -3'
|
| Posted On |
2015-04-06 |
Incidental Mutation