Incidental Mutation 'R1406:Or13c7c'
| ID |
188733 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Or13c7c
|
| Ensembl Gene |
ENSMUSG00000111611 |
| Gene Name |
olfactory receptor family 13 subfamily C member 7C |
| Synonyms |
MOR262-12, Olfr157, mOR37c, Olfr37c, OR37C, GA_x6K02T2N78B-16110014-16110970 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.104)
|
| Stock # |
R1406 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
4 |
| Chromosomal Location |
43834752-43837643 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 43835582 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Methionine
at position 303
(V303M)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000150429
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000079234]
[ENSMUST00000214281]
[ENSMUST00000215442]
|
| AlphaFold |
Q9QZ20 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000079234
AA Change: V303M
PolyPhen 2
Score 0.691 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000078226
Gene: ENSMUSG00000110970
AA Change: V303M
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7tm_4
|
31 |
314 |
4.8e-58 |
PFAM |
|
Pfam:7tm_1
|
41 |
296 |
2.9e-25 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000214281
AA Change: V303M
PolyPhen 2
Score 0.691 (Sensitivity: 0.86; Specificity: 0.92)
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000215442
AA Change: V303M
PolyPhen 2
Score 0.691 (Sensitivity: 0.86; Specificity: 0.92)
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.7%
- 20x: 93.7%
|
| 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: 36 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Akap11 |
T |
C |
14: 78,750,189 (GRCm39) |
T733A |
probably benign |
Het |
| Antxrl |
A |
G |
14: 33,794,999 (GRCm39) |
N476D |
possibly damaging |
Het |
| Armc8 |
G |
T |
9: 99,405,301 (GRCm39) |
P268Q |
probably benign |
Het |
| Asb8 |
C |
A |
15: 98,034,304 (GRCm39) |
G84C |
probably damaging |
Het |
| BC035044 |
A |
T |
6: 128,862,047 (GRCm39) |
|
probably null |
Het |
| Caprin1 |
A |
G |
2: 103,606,332 (GRCm39) |
F303L |
probably benign |
Het |
| Cdh20 |
G |
A |
1: 109,988,862 (GRCm39) |
V255I |
probably benign |
Het |
| Ctdspl2 |
G |
A |
2: 121,837,349 (GRCm39) |
R371Q |
probably damaging |
Het |
| Dctn4 |
T |
A |
18: 60,689,402 (GRCm39) |
D431E |
probably benign |
Het |
| Dhx40 |
T |
C |
11: 86,688,571 (GRCm39) |
E284G |
probably benign |
Het |
| Dhx9 |
A |
G |
1: 153,340,684 (GRCm39) |
V652A |
probably damaging |
Het |
| Fnip2 |
G |
T |
3: 79,415,398 (GRCm39) |
N213K |
possibly damaging |
Het |
| Itch |
A |
G |
2: 155,048,274 (GRCm39) |
E546G |
possibly damaging |
Het |
| Map3k20 |
A |
T |
2: 72,219,838 (GRCm39) |
I257F |
probably damaging |
Het |
| Mdc1 |
C |
T |
17: 36,164,424 (GRCm39) |
T1324I |
probably benign |
Het |
| Mertk |
T |
C |
2: 128,613,406 (GRCm39) |
I474T |
probably benign |
Het |
| Nav3 |
A |
G |
10: 109,719,495 (GRCm39) |
V156A |
possibly damaging |
Het |
| Nbea |
A |
G |
3: 55,944,702 (GRCm39) |
V554A |
probably benign |
Het |
| Or10z1 |
T |
A |
1: 174,078,427 (GRCm39) |
E22V |
possibly damaging |
Het |
| Or4f57 |
A |
G |
2: 111,790,926 (GRCm39) |
V164A |
probably benign |
Het |
| Pask |
A |
G |
1: 93,249,373 (GRCm39) |
Y676H |
probably benign |
Het |
| Pcare |
T |
C |
17: 72,056,156 (GRCm39) |
N1174D |
probably benign |
Het |
| Plpp2 |
G |
A |
10: 79,366,611 (GRCm39) |
|
probably benign |
Het |
| Rab32 |
A |
G |
10: 10,426,637 (GRCm39) |
V103A |
probably damaging |
Het |
| Rp1 |
T |
C |
1: 4,422,144 (GRCm39) |
E262G |
possibly damaging |
Het |
| Rtn4 |
A |
G |
11: 29,658,236 (GRCm39) |
T797A |
probably benign |
Het |
| Sall1 |
A |
T |
8: 89,759,072 (GRCm39) |
I344K |
probably benign |
Het |
| Scnn1b |
T |
C |
7: 121,501,767 (GRCm39) |
|
probably null |
Het |
| Sik3 |
G |
T |
9: 46,034,643 (GRCm39) |
|
probably benign |
Het |
| Slc7a2 |
G |
T |
8: 41,358,622 (GRCm39) |
G322W |
probably damaging |
Het |
| Snx29 |
A |
G |
16: 11,217,657 (GRCm39) |
M153V |
probably benign |
Het |
| Stk25 |
A |
G |
1: 93,552,875 (GRCm39) |
|
probably benign |
Het |
| Stk4 |
C |
T |
2: 163,942,448 (GRCm39) |
T360M |
probably benign |
Het |
| Ush1c |
A |
C |
7: 45,874,965 (GRCm39) |
|
probably null |
Het |
| Vmn2r8 |
C |
T |
5: 108,950,234 (GRCm39) |
M204I |
probably benign |
Het |
| Zfp839 |
C |
T |
12: 110,832,744 (GRCm39) |
T554M |
probably damaging |
Het |
|
| Other mutations in Or13c7c |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01138:Or13c7c
|
APN |
4 |
43,835,617 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1406:Or13c7c
|
UTSW |
4 |
43,835,582 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
R4386:Or13c7c
|
UTSW |
4 |
43,836,124 (GRCm39) |
missense |
probably benign |
0.44 |
|
R4673:Or13c7c
|
UTSW |
4 |
43,836,430 (GRCm39) |
missense |
probably benign |
0.28 |
|
R5119:Or13c7c
|
UTSW |
4 |
43,836,433 (GRCm39) |
missense |
probably benign |
|
|
R5150:Or13c7c
|
UTSW |
4 |
43,836,301 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5379:Or13c7c
|
UTSW |
4 |
43,836,010 (GRCm39) |
missense |
probably benign |
|
|
R6027:Or13c7c
|
UTSW |
4 |
43,835,842 (GRCm39) |
missense |
probably benign |
0.03 |
|
R6542:Or13c7c
|
UTSW |
4 |
43,835,686 (GRCm39) |
missense |
probably benign |
0.02 |
|
R8696:Or13c7c
|
UTSW |
4 |
43,836,193 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9360:Or13c7c
|
UTSW |
4 |
43,835,765 (GRCm39) |
missense |
probably benign |
0.44 |
|
R9418:Or13c7c
|
UTSW |
4 |
43,835,879 (GRCm39) |
missense |
probably benign |
0.21 |
|
| Predicted Primers |
PCR Primer
(F):5'- CAGATGTTGGCAGTCACTGACAGG -3'
(R):5'- CCATCCTCTTCATGTACGGGAAGC -3'
Sequencing Primer
(F):5'- aaaatgaactttcccagtcagtag -3'
(R):5'- TTCATGTACGGGAAGCCCAAG -3'
|
| Posted On |
2014-05-09 |
Incidental Mutation