Incidental Mutation 'R3794:Or4c112'
| ID |
272678 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Or4c112
|
| Ensembl Gene |
ENSMUSG00000101391 |
| Gene Name |
olfactory receptor family 4 subfamily C member 112 |
| Synonyms |
GA_x6K02T2Q125-50504545-50503631, MOR233-4, Olfr1217 |
| MMRRC Submission |
040756-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.068)
|
| Stock # |
R3794 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
88853339-88854443 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 88853770 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Glutamine
at position 192
(H192Q)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000149931
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000099799]
[ENSMUST00000213669]
[ENSMUST00000214022]
[ENSMUST00000216592]
|
| AlphaFold |
Q8VGG1 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000099799
AA Change: H192Q
PolyPhen 2
Score 0.411 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000097387
Gene: ENSMUSG00000101391
AA Change: H192Q
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7tm_4
|
29 |
303 |
5.7e-48 |
PFAM |
|
Pfam:7tm_1
|
39 |
286 |
6.3e-15 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000213669
AA Change: H192Q
PolyPhen 2
Score 0.411 (Sensitivity: 0.89; Specificity: 0.90)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000214022
AA Change: H192Q
PolyPhen 2
Score 0.411 (Sensitivity: 0.89; Specificity: 0.90)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000216592
AA Change: H192Q
PolyPhen 2
Score 0.411 (Sensitivity: 0.89; Specificity: 0.90)
|
| Meta Mutation Damage Score |
0.3954 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.4%
|
| Validation Efficiency |
97% (37/38) |
| 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: 34 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adcy6 |
C |
T |
15: 98,496,824 (GRCm39) |
V482I |
probably damaging |
Het |
| Adgrv1 |
T |
A |
13: 81,431,486 (GRCm39) |
M1L |
probably damaging |
Het |
| Ceacam13 |
A |
G |
7: 17,747,340 (GRCm39) |
*264W |
probably null |
Het |
| Dennd5b |
A |
T |
6: 149,002,715 (GRCm39) |
D31E |
possibly damaging |
Het |
| Dip2c |
T |
C |
13: 9,654,597 (GRCm39) |
V706A |
probably damaging |
Het |
| Enpp3 |
T |
C |
10: 24,707,630 (GRCm39) |
|
probably null |
Het |
| Exoc4 |
T |
G |
6: 33,452,932 (GRCm39) |
V474G |
probably benign |
Het |
| F2rl1 |
A |
G |
13: 95,649,719 (GRCm39) |
Y388H |
unknown |
Het |
| Fasl |
T |
C |
1: 161,609,306 (GRCm39) |
R17G |
probably benign |
Het |
| Htr1a |
G |
A |
13: 105,580,852 (GRCm39) |
V31M |
possibly damaging |
Het |
| Inpp4b |
T |
C |
8: 82,759,845 (GRCm39) |
V445A |
probably damaging |
Het |
| Itih3 |
T |
C |
14: 30,640,351 (GRCm39) |
Y319C |
probably damaging |
Het |
| Katnip |
A |
G |
7: 125,419,261 (GRCm39) |
N476S |
probably benign |
Het |
| Kmt2d |
T |
C |
15: 98,735,240 (GRCm39) |
|
probably benign |
Het |
| Mobp |
A |
T |
9: 119,997,033 (GRCm39) |
K55* |
probably null |
Het |
| Ndufaf5 |
T |
A |
2: 140,044,843 (GRCm39) |
M279K |
possibly damaging |
Het |
| Nlrc3 |
T |
C |
16: 3,765,739 (GRCm39) |
I1057V |
probably benign |
Het |
| Or10al7 |
A |
G |
17: 38,365,786 (GRCm39) |
Y224H |
probably damaging |
Het |
| Piezo2 |
C |
T |
18: 63,214,864 (GRCm39) |
R1257Q |
probably damaging |
Het |
| Pigv |
A |
G |
4: 133,392,502 (GRCm39) |
S223P |
possibly damaging |
Het |
| Pkdcc |
A |
G |
17: 83,531,382 (GRCm39) |
T464A |
probably damaging |
Het |
| Polr2k |
A |
G |
15: 36,175,193 (GRCm39) |
I18V |
probably damaging |
Het |
| Pon3 |
A |
G |
6: 5,221,578 (GRCm39) |
Y351H |
probably benign |
Het |
| Rsf1 |
ATGGCG |
ATGGCGACGGTGGCG |
7: 97,229,111 (GRCm39) |
|
probably benign |
Het |
| Scaf8 |
A |
G |
17: 3,240,524 (GRCm39) |
E632G |
probably damaging |
Het |
| Smurf1 |
A |
G |
5: 144,837,985 (GRCm39) |
|
probably null |
Het |
| Tex16 |
T |
G |
X: 111,150,375 (GRCm39) |
M1R |
probably null |
Het |
| Tln1 |
G |
T |
4: 43,536,295 (GRCm39) |
A1999D |
probably damaging |
Het |
| Trgv5 |
A |
T |
13: 19,376,694 (GRCm39) |
H47L |
probably benign |
Het |
| Ttn |
C |
T |
2: 76,772,781 (GRCm39) |
V2405I |
possibly damaging |
Het |
| Vps13d |
G |
A |
4: 144,812,007 (GRCm39) |
|
probably benign |
Het |
| Xrcc1 |
A |
G |
7: 24,269,985 (GRCm39) |
T469A |
probably benign |
Het |
| Zfp287 |
G |
T |
11: 62,605,070 (GRCm39) |
H612Q |
probably damaging |
Het |
| Zfp352 |
C |
T |
4: 90,113,386 (GRCm39) |
H509Y |
probably damaging |
Het |
|
| Other mutations in Or4c112 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01071:Or4c112
|
APN |
2 |
88,853,519 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02034:Or4c112
|
APN |
2 |
88,854,015 (GRCm39) |
missense |
probably benign |
0.07 |
|
IGL03328:Or4c112
|
APN |
2 |
88,854,199 (GRCm39) |
nonsense |
probably null |
|
|
R0153:Or4c112
|
UTSW |
2 |
88,853,540 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0414:Or4c112
|
UTSW |
2 |
88,853,490 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0544:Or4c112
|
UTSW |
2 |
88,854,170 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1994:Or4c112
|
UTSW |
2 |
88,853,487 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2217:Or4c112
|
UTSW |
2 |
88,853,770 (GRCm39) |
missense |
probably benign |
0.41 |
|
R3738:Or4c112
|
UTSW |
2 |
88,853,954 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3808:Or4c112
|
UTSW |
2 |
88,853,770 (GRCm39) |
missense |
probably benign |
0.41 |
|
R3809:Or4c112
|
UTSW |
2 |
88,853,770 (GRCm39) |
missense |
probably benign |
0.41 |
|
R5252:Or4c112
|
UTSW |
2 |
88,853,598 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R5448:Or4c112
|
UTSW |
2 |
88,853,845 (GRCm39) |
missense |
probably benign |
|
|
R7524:Or4c112
|
UTSW |
2 |
88,854,315 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8031:Or4c112
|
UTSW |
2 |
88,853,972 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8911:Or4c112
|
UTSW |
2 |
88,854,294 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9069:Or4c112
|
UTSW |
2 |
88,854,308 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9452:Or4c112
|
UTSW |
2 |
88,854,234 (GRCm39) |
missense |
|
|
|
R9477:Or4c112
|
UTSW |
2 |
88,853,615 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9682:Or4c112
|
UTSW |
2 |
88,854,296 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
Z1176:Or4c112
|
UTSW |
2 |
88,854,240 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1176:Or4c112
|
UTSW |
2 |
88,854,139 (GRCm39) |
missense |
possibly damaging |
0.60 |
|
Z1177:Or4c112
|
UTSW |
2 |
88,853,784 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGAATGCAGAAGTAGGTCTTGC -3'
(R):5'- CTACTCTTCCATCATGACCCAGAG -3'
Sequencing Primer
(F):5'- TGGGCTCTCAGAGAAAAC -3'
(R):5'- ATCATGACCCAGAGGCTCTGTG -3'
|
| Posted On |
2015-03-25 |
Incidental Mutation