Incidental Mutation 'R5035:Or8g37'
| ID |
389504 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Or8g37
|
| Ensembl Gene |
ENSMUSG00000095774 |
| Gene Name |
olfactory receptor family 8 subfamily G member 37 |
| Synonyms |
Olfr970, GA_x6K02T2PVTD-33517322-33518257, MOR171-16 |
| MMRRC Submission |
042626-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.279)
|
| Stock # |
R5035 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
9 |
| Chromosomal Location |
39730937-39731872 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 39731390 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Alanine to Threonine
at position 152
(A152T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000150325
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000071132]
[ENSMUST00000213975]
[ENSMUST00000215922]
|
| AlphaFold |
Q8VFN3 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000071132
AA Change: A152T
PolyPhen 2
Score 0.816 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000071132
Gene: ENSMUSG00000095774
AA Change: A152T
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7tm_4
|
31 |
308 |
5.2e-53 |
PFAM |
|
Pfam:7tm_1
|
41 |
290 |
1.6e-22 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000213975
AA Change: A152T
PolyPhen 2
Score 0.816 (Sensitivity: 0.84; Specificity: 0.93)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000215265
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000215922
AA Change: A152T
PolyPhen 2
Score 0.816 (Sensitivity: 0.84; Specificity: 0.93)
|
| Meta Mutation Damage Score |
0.1795 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.8%
- 20x: 93.8%
|
| Validation Efficiency |
98% (46/47) |
| 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: 42 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acat1 |
T |
C |
9: 53,494,810 (GRCm39) |
I361V |
probably benign |
Het |
| Afp |
A |
G |
5: 90,655,764 (GRCm39) |
D583G |
probably benign |
Het |
| Bcas3 |
C |
T |
11: 85,434,771 (GRCm39) |
A552V |
probably damaging |
Het |
| Bfsp2 |
T |
G |
9: 103,357,065 (GRCm39) |
T121P |
probably benign |
Het |
| Bicra |
C |
T |
7: 15,713,349 (GRCm39) |
R951Q |
possibly damaging |
Het |
| Cdc40 |
G |
A |
10: 40,725,809 (GRCm39) |
T220I |
probably benign |
Het |
| Cdk5rap3 |
T |
C |
11: 96,806,911 (GRCm39) |
|
probably benign |
Het |
| Clcnka |
A |
T |
4: 141,122,469 (GRCm39) |
Y179* |
probably null |
Het |
| Creb3l1 |
T |
A |
2: 91,817,431 (GRCm39) |
I361F |
probably benign |
Het |
| Csmd3 |
T |
C |
15: 47,454,175 (GRCm39) |
Y3557C |
probably damaging |
Het |
| Dab2ip |
A |
G |
2: 35,599,953 (GRCm39) |
S190G |
probably benign |
Het |
| Dbx1 |
T |
C |
7: 49,282,284 (GRCm39) |
H307R |
unknown |
Het |
| Dock8 |
C |
A |
19: 25,063,571 (GRCm39) |
P258T |
probably damaging |
Het |
| Eml6 |
T |
C |
11: 29,804,187 (GRCm39) |
I305V |
probably benign |
Het |
| Frem3 |
T |
A |
8: 81,342,543 (GRCm39) |
F1612Y |
probably damaging |
Het |
| Fubp1 |
A |
G |
3: 151,920,488 (GRCm39) |
T76A |
probably benign |
Het |
| Glmp |
G |
C |
3: 88,233,951 (GRCm39) |
|
probably benign |
Het |
| Gm20918 |
A |
G |
Y: 5,045,992 (GRCm39) |
Q183R |
probably benign |
Het |
| Krt28 |
T |
C |
11: 99,257,650 (GRCm39) |
N397S |
probably benign |
Het |
| Lin9 |
T |
A |
1: 180,496,763 (GRCm39) |
L351I |
probably benign |
Het |
| Map3k13 |
T |
C |
16: 21,740,421 (GRCm39) |
Y583H |
probably benign |
Het |
| Mcm3 |
A |
T |
1: 20,873,642 (GRCm39) |
|
probably benign |
Het |
| Misp |
T |
C |
10: 79,663,790 (GRCm39) |
V588A |
probably benign |
Het |
| Or1j19 |
A |
G |
2: 36,676,903 (GRCm39) |
D122G |
probably damaging |
Het |
| Or2z9 |
T |
A |
8: 72,853,922 (GRCm39) |
L106H |
probably damaging |
Het |
| Or4c105 |
A |
T |
2: 88,648,443 (GRCm39) |
K309N |
probably benign |
Het |
| Or51a43 |
G |
A |
7: 103,717,614 (GRCm39) |
T208I |
possibly damaging |
Het |
| Osbpl9 |
A |
G |
4: 108,923,364 (GRCm39) |
F449L |
probably damaging |
Het |
| Pkhd1l1 |
A |
G |
15: 44,431,720 (GRCm39) |
D3358G |
probably damaging |
Het |
| Prodh2 |
A |
T |
7: 30,205,904 (GRCm39) |
S247C |
possibly damaging |
Het |
| Prr23a3 |
G |
A |
9: 98,747,183 (GRCm39) |
E46K |
possibly damaging |
Het |
| Ptprz1 |
A |
G |
6: 23,016,214 (GRCm39) |
I837V |
probably benign |
Het |
| Rabgap1l |
A |
C |
1: 160,551,606 (GRCm39) |
F263V |
probably damaging |
Het |
| Rnf4 |
A |
G |
5: 34,508,683 (GRCm39) |
K182E |
probably damaging |
Het |
| Slc24a2 |
G |
T |
4: 86,929,943 (GRCm39) |
R469S |
possibly damaging |
Het |
| Speer2 |
A |
G |
16: 69,654,829 (GRCm39) |
|
probably null |
Het |
| Tg |
C |
A |
15: 66,553,662 (GRCm39) |
|
probably null |
Het |
| Tns1 |
G |
A |
1: 73,992,979 (GRCm39) |
|
probably benign |
Het |
| Top2b |
G |
T |
14: 16,409,966 (GRCm38) |
A878S |
probably benign |
Het |
| Trgc4 |
G |
T |
13: 19,536,506 (GRCm39) |
R188L |
unknown |
Het |
| Ugt3a1 |
G |
A |
15: 9,361,704 (GRCm39) |
R160Q |
probably benign |
Het |
| Ush2a |
G |
T |
1: 188,643,005 (GRCm39) |
L4122F |
probably damaging |
Het |
|
| Other mutations in Or8g37 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01388:Or8g37
|
APN |
9 |
39,731,298 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02674:Or8g37
|
APN |
9 |
39,730,934 (GRCm39) |
splice site |
probably null |
|
|
R0659:Or8g37
|
UTSW |
9 |
39,731,112 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
R0686:Or8g37
|
UTSW |
9 |
39,730,964 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R1952:Or8g37
|
UTSW |
9 |
39,731,363 (GRCm39) |
missense |
probably benign |
0.09 |
|
R2068:Or8g37
|
UTSW |
9 |
39,731,846 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4472:Or8g37
|
UTSW |
9 |
39,731,870 (GRCm39) |
makesense |
probably null |
|
|
R4798:Or8g37
|
UTSW |
9 |
39,731,193 (GRCm39) |
missense |
probably benign |
0.13 |
|
R5339:Or8g37
|
UTSW |
9 |
39,731,229 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R6751:Or8g37
|
UTSW |
9 |
39,731,193 (GRCm39) |
missense |
probably benign |
0.13 |
|
R7211:Or8g37
|
UTSW |
9 |
39,731,154 (GRCm39) |
missense |
possibly damaging |
0.76 |
|
R7471:Or8g37
|
UTSW |
9 |
39,731,423 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7609:Or8g37
|
UTSW |
9 |
39,731,583 (GRCm39) |
missense |
probably benign |
|
|
R7638:Or8g37
|
UTSW |
9 |
39,731,189 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7890:Or8g37
|
UTSW |
9 |
39,731,310 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7918:Or8g37
|
UTSW |
9 |
39,731,406 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R8548:Or8g37
|
UTSW |
9 |
39,731,537 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8817:Or8g37
|
UTSW |
9 |
39,730,939 (GRCm39) |
start codon destroyed |
probably null |
0.40 |
|
R8868:Or8g37
|
UTSW |
9 |
39,731,252 (GRCm39) |
missense |
probably benign |
|
|
R9689:Or8g37
|
UTSW |
9 |
39,731,801 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
Z1176:Or8g37
|
UTSW |
9 |
39,731,651 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- TCCTGAATGTATGACTCAGCTCTAC -3'
(R):5'- TTTGGACCTGCCTTCAGTGG -3'
Sequencing Primer
(F):5'- GCAATCTGTAACCCCTTG -3'
(R):5'- GGACCTGCCTTCAGTGGATTTAATC -3'
|
| Posted On |
2016-06-06 |
Incidental Mutation