Incidental Mutation 'R3841:Or6c35'
| ID |
277173 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Or6c35
|
| Ensembl Gene |
ENSMUSG00000095138 |
| Gene Name |
olfactory receptor family 6 subfamily C member 35 |
| Synonyms |
MOR114-6, Olfr781, GA_x6K02T2PULF-11013616-11014551 |
| MMRRC Submission |
040781-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.064)
|
| Stock # |
R3841 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
10 |
| Chromosomal Location |
129168752-129169687 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 129169202 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Valine
at position 151
(I151V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000145356
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000075613]
[ENSMUST00000204108]
|
| AlphaFold |
Q8VFZ8 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000075613
AA Change: I151V
PolyPhen 2
Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
|
| SMART Domains |
Protein: ENSMUSP00000075041
Gene: ENSMUSG00000095138
AA Change: I151V
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7tm_4
|
28 |
305 |
1.6e-44 |
PFAM |
|
Pfam:7tm_1
|
38 |
287 |
5e-24 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000204108
AA Change: I151V
PolyPhen 2
Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
|
| SMART Domains |
Protein: ENSMUSP00000145356
Gene: ENSMUSG00000095138
AA Change: I151V
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7tm_4
|
28 |
305 |
1.6e-44 |
PFAM |
|
Pfam:7tm_1
|
38 |
287 |
5e-24 |
PFAM |
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.4%
- 20x: 95.2%
|
| Validation Efficiency |
98% (43/44) |
| 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: 43 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4921524L21Rik |
A |
T |
18: 6,620,104 (GRCm39) |
K11N |
probably benign |
Het |
| Atp8b3 |
A |
G |
10: 80,365,540 (GRCm39) |
F405L |
possibly damaging |
Het |
| BC035947 |
G |
T |
1: 78,474,482 (GRCm39) |
N683K |
probably benign |
Het |
| Bmper |
T |
A |
9: 23,384,727 (GRCm39) |
|
probably null |
Het |
| Btnl7-ps |
A |
G |
17: 34,761,550 (GRCm39) |
|
noncoding transcript |
Het |
| Cmya5 |
A |
G |
13: 93,231,140 (GRCm39) |
V1316A |
probably damaging |
Het |
| Cracd |
A |
T |
5: 77,006,858 (GRCm39) |
Q1073L |
unknown |
Het |
| Dgcr6 |
C |
A |
16: 17,888,077 (GRCm39) |
Y200* |
probably null |
Het |
| Dsp |
A |
C |
13: 38,381,681 (GRCm39) |
I2210L |
probably benign |
Het |
| Eef1e1 |
G |
A |
13: 38,840,167 (GRCm39) |
T46I |
probably damaging |
Het |
| Epc2 |
A |
G |
2: 49,378,750 (GRCm39) |
K68R |
probably damaging |
Het |
| F11r |
G |
T |
1: 171,288,457 (GRCm39) |
R100L |
probably damaging |
Het |
| Fam83c |
C |
T |
2: 155,676,668 (GRCm39) |
R34H |
probably benign |
Het |
| Fbxw25 |
A |
T |
9: 109,491,202 (GRCm39) |
Y105* |
probably null |
Het |
| Ggt1 |
T |
A |
10: 75,417,219 (GRCm39) |
Y5* |
probably null |
Het |
| Hipk2 |
T |
C |
6: 38,795,861 (GRCm39) |
E136G |
probably damaging |
Het |
| Hsph1 |
T |
A |
5: 149,544,180 (GRCm39) |
|
probably null |
Het |
| Impdh1 |
A |
G |
6: 29,202,768 (GRCm39) |
S421P |
probably damaging |
Het |
| Jhy |
T |
A |
9: 40,856,142 (GRCm39) |
E115V |
probably benign |
Het |
| Kmt2a |
T |
C |
9: 44,742,588 (GRCm39) |
|
probably benign |
Het |
| Ldlrap1 |
T |
C |
4: 134,477,747 (GRCm39) |
T159A |
probably damaging |
Het |
| Lrrc4c |
A |
G |
2: 97,460,537 (GRCm39) |
T388A |
probably damaging |
Het |
| Map3k10 |
C |
A |
7: 27,357,789 (GRCm39) |
C663F |
possibly damaging |
Het |
| Me3 |
A |
T |
7: 89,435,701 (GRCm39) |
N179Y |
possibly damaging |
Het |
| Medag |
T |
A |
5: 149,350,888 (GRCm39) |
I121N |
probably damaging |
Het |
| Mocos |
C |
T |
18: 24,809,681 (GRCm39) |
A428V |
probably damaging |
Het |
| Mok |
C |
T |
12: 110,781,591 (GRCm39) |
V59M |
probably benign |
Het |
| Neb |
C |
A |
2: 52,097,672 (GRCm39) |
|
probably null |
Het |
| Nr2c2 |
C |
T |
6: 92,140,119 (GRCm39) |
R464W |
probably damaging |
Het |
| Or52s1 |
G |
A |
7: 102,861,900 (GRCm39) |
G267R |
probably damaging |
Het |
| Otud1 |
G |
T |
2: 19,663,554 (GRCm39) |
E228* |
probably null |
Het |
| Parp4 |
A |
T |
14: 56,825,235 (GRCm39) |
N120Y |
probably damaging |
Het |
| Ptprb |
T |
C |
10: 116,182,887 (GRCm39) |
V1521A |
possibly damaging |
Het |
| Rap1gap |
T |
C |
4: 137,444,758 (GRCm39) |
F182S |
probably damaging |
Het |
| Rcan2 |
A |
G |
17: 44,347,870 (GRCm39) |
K193R |
probably benign |
Het |
| Rdh19 |
A |
T |
10: 127,692,755 (GRCm39) |
M141L |
probably benign |
Het |
| Selenok |
C |
T |
14: 29,695,337 (GRCm39) |
R72* |
probably null |
Het |
| Tbpl1 |
A |
G |
10: 22,587,807 (GRCm39) |
|
probably benign |
Het |
| Tnxb |
A |
G |
17: 34,917,897 (GRCm39) |
E2270G |
possibly damaging |
Het |
| Tulp1 |
A |
G |
17: 28,572,689 (GRCm39) |
V489A |
probably damaging |
Het |
| Utp20 |
A |
T |
10: 88,611,065 (GRCm39) |
|
probably benign |
Het |
| Zfp617 |
G |
A |
8: 72,685,961 (GRCm39) |
G97E |
probably damaging |
Het |
| Zfp773 |
A |
G |
7: 7,135,390 (GRCm39) |
V402A |
possibly damaging |
Het |
|
| Other mutations in Or6c35 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01121:Or6c35
|
APN |
10 |
129,168,804 (GRCm39) |
missense |
probably benign |
|
|
IGL01636:Or6c35
|
APN |
10 |
129,168,752 (GRCm39) |
start codon destroyed |
probably damaging |
0.96 |
|
IGL01744:Or6c35
|
APN |
10 |
129,169,326 (GRCm39) |
missense |
probably benign |
0.05 |
|
IGL01867:Or6c35
|
APN |
10 |
129,169,232 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02002:Or6c35
|
APN |
10 |
129,168,996 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02423:Or6c35
|
APN |
10 |
129,169,397 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2036:Or6c35
|
UTSW |
10 |
129,169,541 (GRCm39) |
missense |
probably benign |
0.43 |
|
R2099:Or6c35
|
UTSW |
10 |
129,169,152 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R2273:Or6c35
|
UTSW |
10 |
129,169,326 (GRCm39) |
missense |
probably benign |
0.05 |
|
R2274:Or6c35
|
UTSW |
10 |
129,169,326 (GRCm39) |
missense |
probably benign |
0.05 |
|
R4585:Or6c35
|
UTSW |
10 |
129,169,142 (GRCm39) |
missense |
probably benign |
0.08 |
|
R4586:Or6c35
|
UTSW |
10 |
129,169,142 (GRCm39) |
missense |
probably benign |
0.08 |
|
R5522:Or6c35
|
UTSW |
10 |
129,168,798 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R6052:Or6c35
|
UTSW |
10 |
129,169,071 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R6414:Or6c35
|
UTSW |
10 |
129,169,578 (GRCm39) |
missense |
probably benign |
0.23 |
|
R6468:Or6c35
|
UTSW |
10 |
129,169,580 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R6647:Or6c35
|
UTSW |
10 |
129,169,033 (GRCm39) |
nonsense |
probably null |
|
|
R8099:Or6c35
|
UTSW |
10 |
129,168,996 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9151:Or6c35
|
UTSW |
10 |
129,169,623 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9617:Or6c35
|
UTSW |
10 |
129,168,794 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R9649:Or6c35
|
UTSW |
10 |
129,169,368 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
T0975:Or6c35
|
UTSW |
10 |
129,169,314 (GRCm39) |
missense |
probably benign |
0.31 |
|
| Predicted Primers |
PCR Primer
(F):5'- GCTTGTGCCAGTCAACTGTTG -3'
(R):5'- AGAGGGAAATCTCAGAATGGTCTTG -3'
Sequencing Primer
(F):5'- GCCAGTCAACTGTTGTTTATAGACC -3'
(R):5'- TATAAACATAGGAAAGGACAACACAC -3'
|
| Posted On |
2015-04-06 |
Incidental Mutation