Incidental Mutation 'R2382:Or7a37'
| ID |
247573 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Or7a37
|
| Ensembl Gene |
ENSMUSG00000042774 |
| Gene Name |
olfactory receptor family 7 subfamily A member 37 |
| Synonyms |
GA_x6K02T2QGN0-2842591-2841662, Olfr1353, MOR139-2 |
| MMRRC Submission |
040357-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.083)
|
| Stock # |
R2382 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
10 |
| Chromosomal Location |
78799143-78806446 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 78805990 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Cysteine to Tyrosine
at position 169
(C169Y)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000145073
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000039718]
[ENSMUST00000204849]
[ENSMUST00000205193]
|
| AlphaFold |
Q8VGU8 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000039718
AA Change: C169Y
PolyPhen 2
Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000038992
Gene: ENSMUSG00000042774
AA Change: C169Y
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7tm_4
|
31 |
308 |
1.2e-48 |
PFAM |
|
Pfam:7TM_GPCR_Srsx
|
35 |
305 |
2.9e-6 |
PFAM |
|
Pfam:7tm_1
|
41 |
290 |
9.3e-27 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000204849
AA Change: C169Y
PolyPhen 2
Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000145454
Gene: ENSMUSG00000042774
AA Change: C169Y
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7tm_4
|
31 |
308 |
1.2e-48 |
PFAM |
|
Pfam:7TM_GPCR_Srsx
|
35 |
305 |
2.9e-6 |
PFAM |
|
Pfam:7tm_1
|
41 |
290 |
9.3e-27 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000205193
AA Change: C169Y
PolyPhen 2
Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000145073
Gene: ENSMUSG00000042774
AA Change: C169Y
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7tm_4
|
31 |
95 |
5.8e-10 |
PFAM |
|
Pfam:7tm_1
|
41 |
94 |
3.5e-8 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000219714
|
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 96.9%
- 20x: 93.8%
|
| 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: 39 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2700049A03Rik |
G |
T |
12: 71,211,320 (GRCm39) |
E685* |
probably null |
Het |
| 2700049A03Rik |
A |
T |
12: 71,211,321 (GRCm39) |
E685V |
possibly damaging |
Het |
| Aarsd1 |
T |
A |
11: 101,304,904 (GRCm39) |
I64F |
probably damaging |
Het |
| Agrn |
T |
A |
4: 156,260,973 (GRCm39) |
D574V |
probably damaging |
Het |
| Atg4b |
T |
C |
1: 93,712,564 (GRCm39) |
C16R |
probably damaging |
Het |
| Ccdc141 |
A |
T |
2: 76,841,886 (GRCm39) |
L1515Q |
probably damaging |
Het |
| Ccdc141 |
A |
T |
2: 76,905,342 (GRCm39) |
V368E |
probably benign |
Het |
| Clk1 |
A |
T |
1: 58,460,448 (GRCm39) |
S61T |
probably benign |
Het |
| Dhx38 |
A |
T |
8: 110,282,772 (GRCm39) |
D631E |
probably damaging |
Het |
| Dner |
C |
G |
1: 84,348,544 (GRCm39) |
E719Q |
probably damaging |
Het |
| E030025P04Rik |
G |
A |
11: 109,034,880 (GRCm39) |
Q3* |
probably null |
Het |
| Eif4g2 |
T |
A |
7: 110,674,253 (GRCm39) |
T613S |
probably benign |
Het |
| Fn1 |
C |
G |
1: 71,687,278 (GRCm39) |
G193A |
probably damaging |
Het |
| Ftdc1 |
T |
C |
16: 58,436,239 (GRCm39) |
|
probably null |
Het |
| Gls2 |
A |
G |
10: 128,039,711 (GRCm39) |
E286G |
probably damaging |
Het |
| Gm21286 |
A |
G |
4: 60,794,283 (GRCm39) |
|
noncoding transcript |
Het |
| Hoxa13 |
A |
T |
6: 52,236,125 (GRCm39) |
V304D |
probably damaging |
Het |
| Hpse2 |
A |
T |
19: 42,920,061 (GRCm39) |
M346K |
probably benign |
Het |
| Igkv1-99 |
A |
T |
6: 68,519,481 (GRCm39) |
|
probably benign |
Het |
| Kcnq2 |
A |
G |
2: 180,753,900 (GRCm39) |
Y237H |
probably damaging |
Het |
| Kmt2a |
T |
A |
9: 44,732,207 (GRCm39) |
|
probably benign |
Het |
| Kntc1 |
A |
G |
5: 123,898,411 (GRCm39) |
D180G |
probably damaging |
Het |
| Macf1 |
G |
A |
4: 123,268,625 (GRCm39) |
T4682M |
probably damaging |
Het |
| Mfsd6 |
T |
A |
1: 52,747,569 (GRCm39) |
H432L |
probably benign |
Het |
| Mgat5b |
T |
A |
11: 116,810,322 (GRCm39) |
D7E |
probably damaging |
Het |
| Msh6 |
G |
A |
17: 88,292,159 (GRCm39) |
V305I |
probably benign |
Het |
| Notch1 |
A |
T |
2: 26,363,793 (GRCm39) |
H880Q |
probably benign |
Het |
| Or2g25 |
A |
C |
17: 37,970,822 (GRCm39) |
V134G |
probably benign |
Het |
| Or7a41 |
A |
T |
10: 78,870,968 (GRCm39) |
I113F |
possibly damaging |
Het |
| Pmepa1 |
G |
A |
2: 173,069,926 (GRCm39) |
R210W |
probably damaging |
Het |
| Pnliprp2 |
A |
G |
19: 58,757,062 (GRCm39) |
N308S |
probably benign |
Het |
| Ppwd1 |
T |
C |
13: 104,343,621 (GRCm39) |
T595A |
probably damaging |
Het |
| Prdm13 |
T |
C |
4: 21,678,277 (GRCm39) |
T738A |
possibly damaging |
Het |
| Rab11fip3 |
T |
A |
17: 26,209,841 (GRCm39) |
K1062* |
probably null |
Het |
| Reep3 |
A |
T |
10: 66,932,569 (GRCm39) |
V11E |
possibly damaging |
Het |
| Slco1a8 |
G |
A |
6: 141,936,206 (GRCm39) |
S293F |
probably benign |
Het |
| Slco3a1 |
T |
C |
7: 73,996,524 (GRCm39) |
D294G |
probably benign |
Het |
| Sycp2 |
A |
G |
2: 178,019,811 (GRCm39) |
|
probably null |
Het |
| Zfp292 |
A |
G |
4: 34,806,426 (GRCm39) |
V2206A |
possibly damaging |
Het |
|
| Other mutations in Or7a37 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02135:Or7a37
|
APN |
10 |
78,805,940 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02159:Or7a37
|
APN |
10 |
78,805,735 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0355:Or7a37
|
UTSW |
10 |
78,806,267 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0561:Or7a37
|
UTSW |
10 |
78,805,729 (GRCm39) |
nonsense |
probably null |
|
|
R1305:Or7a37
|
UTSW |
10 |
78,805,933 (GRCm39) |
missense |
probably benign |
0.03 |
|
R1921:Or7a37
|
UTSW |
10 |
78,805,975 (GRCm39) |
nonsense |
probably null |
|
|
R1922:Or7a37
|
UTSW |
10 |
78,805,975 (GRCm39) |
nonsense |
probably null |
|
|
R2920:Or7a37
|
UTSW |
10 |
78,805,846 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4491:Or7a37
|
UTSW |
10 |
78,806,151 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5113:Or7a37
|
UTSW |
10 |
78,806,037 (GRCm39) |
missense |
probably benign |
|
|
R5305:Or7a37
|
UTSW |
10 |
78,806,390 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
R5744:Or7a37
|
UTSW |
10 |
78,806,017 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5861:Or7a37
|
UTSW |
10 |
78,805,765 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6197:Or7a37
|
UTSW |
10 |
78,805,974 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6314:Or7a37
|
UTSW |
10 |
78,806,179 (GRCm39) |
missense |
probably benign |
|
|
R7693:Or7a37
|
UTSW |
10 |
78,806,137 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGTGGAATTGGACAACTTCTTGC -3'
(R):5'- AGGTGGAGAATGCTTTGTACTTCC -3'
Sequencing Primer
(F):5'- GGACAACTTCTTGCTCACTATCATGG -3'
(R):5'- TGTACTTCCCATGAACTGAGGAC -3'
|
| Posted On |
2014-11-11 |
Incidental Mutation