Incidental Mutation 'R4540:Or4c3d'
| ID |
333478 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Or4c3d
|
| Ensembl Gene |
ENSMUSG00000075068 |
| Gene Name |
olfactory receptor family 4 subfamily C member 3D |
| Synonyms |
Olfr140, MOR235-1, GA_x6K02T2Q125-51484508-51483600, A16 |
| MMRRC Submission |
041776-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.112)
|
| Stock # |
R4540 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
89881758-89882666 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 89882494 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Cysteine
at position 58
(Y58C)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000150438
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000099757]
[ENSMUST00000111506]
[ENSMUST00000216475]
|
| AlphaFold |
Q60878 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000099757
AA Change: Y58C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000097346
Gene: ENSMUSG00000075068
AA Change: Y58C
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7tm_1
|
39 |
285 |
1.3e-30 |
PFAM |
|
Pfam:7tm_4
|
137 |
278 |
7e-42 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000111506
AA Change: Y58C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000107131
Gene: ENSMUSG00000075068
AA Change: Y58C
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7tm_4
|
29 |
302 |
2.9e-48 |
PFAM |
|
Pfam:7tm_1
|
39 |
285 |
9.9e-20 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000216475
AA Change: Y58C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Meta Mutation Damage Score |
0.4456 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.6%
- 10x: 97.4%
- 20x: 95.5%
|
| Validation Efficiency |
100% (43/43) |
| 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: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam6a |
A |
T |
12: 113,508,119 (GRCm39) |
H164L |
probably damaging |
Het |
| Arrdc3 |
C |
A |
13: 81,038,790 (GRCm39) |
R31S |
possibly damaging |
Het |
| Baiap3 |
C |
T |
17: 25,465,644 (GRCm39) |
V585M |
probably damaging |
Het |
| Braf |
A |
G |
6: 39,621,267 (GRCm39) |
S391P |
probably damaging |
Het |
| Ccdc51 |
T |
C |
9: 108,921,288 (GRCm39) |
F392L |
possibly damaging |
Het |
| Cd1d1 |
A |
G |
3: 86,904,012 (GRCm39) |
I194T |
probably benign |
Het |
| Cep162 |
T |
C |
9: 87,094,992 (GRCm39) |
K806E |
probably damaging |
Het |
| Cntn4 |
A |
G |
6: 106,652,709 (GRCm39) |
E726G |
probably damaging |
Het |
| Col11a1 |
A |
G |
3: 113,890,815 (GRCm39) |
Y384C |
unknown |
Het |
| Cops3 |
A |
T |
11: 59,720,980 (GRCm39) |
L145H |
probably damaging |
Het |
| Cul9 |
C |
T |
17: 46,814,015 (GRCm39) |
M2286I |
probably null |
Het |
| Echdc1 |
G |
A |
10: 29,220,578 (GRCm39) |
V245I |
probably benign |
Het |
| Fsip2 |
A |
T |
2: 82,782,009 (GRCm39) |
M261L |
probably benign |
Het |
| Gm4353 |
A |
G |
7: 115,683,212 (GRCm39) |
L123P |
probably benign |
Het |
| Hcfc2 |
G |
C |
10: 82,568,481 (GRCm39) |
E42Q |
probably benign |
Het |
| Hfm1 |
A |
C |
5: 107,022,087 (GRCm39) |
Y199* |
probably null |
Het |
| Iba57 |
G |
A |
11: 59,053,904 (GRCm39) |
|
probably benign |
Het |
| Ihh |
T |
A |
1: 74,987,558 (GRCm39) |
N161I |
possibly damaging |
Het |
| Kcnh7 |
A |
G |
2: 62,569,530 (GRCm39) |
S789P |
probably damaging |
Het |
| Kndc1 |
C |
A |
7: 139,501,343 (GRCm39) |
C877* |
probably null |
Het |
| Lhcgr |
A |
G |
17: 89,063,036 (GRCm39) |
I212T |
probably benign |
Het |
| Lrrtm2 |
T |
A |
18: 35,346,199 (GRCm39) |
T368S |
probably benign |
Het |
| Mag |
A |
C |
7: 30,600,154 (GRCm39) |
V500G |
probably damaging |
Het |
| Nadsyn1 |
A |
G |
7: 143,356,960 (GRCm39) |
V512A |
probably damaging |
Het |
| Nlrp3 |
G |
A |
11: 59,442,725 (GRCm39) |
C759Y |
possibly damaging |
Het |
| Nup107 |
T |
C |
10: 117,597,925 (GRCm39) |
|
probably null |
Het |
| Or4f56 |
T |
C |
2: 111,703,546 (GRCm39) |
Y218C |
probably damaging |
Het |
| Pcdha1 |
A |
C |
18: 37,064,680 (GRCm39) |
D448A |
probably damaging |
Het |
| Pitrm1 |
T |
A |
13: 6,605,506 (GRCm39) |
|
probably null |
Het |
| Pth2r |
A |
G |
1: 65,321,360 (GRCm39) |
N13S |
probably benign |
Het |
| Rae1 |
G |
T |
2: 172,857,185 (GRCm39) |
|
probably benign |
Het |
| Selenoi |
A |
G |
5: 30,461,085 (GRCm39) |
D107G |
probably damaging |
Het |
| Sost |
G |
A |
11: 101,857,670 (GRCm39) |
P44S |
probably damaging |
Het |
| Spag17 |
C |
T |
3: 99,995,697 (GRCm39) |
P1779S |
probably damaging |
Het |
| Supt3 |
T |
C |
17: 45,347,662 (GRCm39) |
V208A |
probably benign |
Het |
| Tbc1d30 |
T |
C |
10: 121,115,063 (GRCm39) |
E365G |
probably damaging |
Het |
| Tnxb |
C |
T |
17: 34,922,309 (GRCm39) |
T2374I |
possibly damaging |
Het |
| Trip12 |
A |
G |
1: 84,726,997 (GRCm39) |
I1T |
probably damaging |
Het |
|
| Other mutations in Or4c3d |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02220:Or4c3d
|
APN |
2 |
89,882,038 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02631:Or4c3d
|
APN |
2 |
89,881,786 (GRCm39) |
missense |
probably damaging |
0.97 |
|
IGL03354:Or4c3d
|
APN |
2 |
89,881,911 (GRCm39) |
missense |
probably damaging |
1.00 |
|
3-1:Or4c3d
|
UTSW |
2 |
89,882,496 (GRCm39) |
missense |
possibly damaging |
0.48 |
|
R0673:Or4c3d
|
UTSW |
2 |
89,882,596 (GRCm39) |
missense |
probably benign |
0.04 |
|
R1355:Or4c3d
|
UTSW |
2 |
89,881,957 (GRCm39) |
missense |
probably benign |
0.29 |
|
R1452:Or4c3d
|
UTSW |
2 |
89,882,015 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
R1719:Or4c3d
|
UTSW |
2 |
89,882,128 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2230:Or4c3d
|
UTSW |
2 |
89,882,569 (GRCm39) |
missense |
probably benign |
|
|
R2231:Or4c3d
|
UTSW |
2 |
89,882,569 (GRCm39) |
missense |
probably benign |
|
|
R2232:Or4c3d
|
UTSW |
2 |
89,882,569 (GRCm39) |
missense |
probably benign |
|
|
R4710:Or4c3d
|
UTSW |
2 |
89,882,494 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5304:Or4c3d
|
UTSW |
2 |
89,882,257 (GRCm39) |
missense |
probably benign |
0.29 |
|
R5599:Or4c3d
|
UTSW |
2 |
89,882,563 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7309:Or4c3d
|
UTSW |
2 |
89,881,801 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7361:Or4c3d
|
UTSW |
2 |
89,882,089 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8314:Or4c3d
|
UTSW |
2 |
89,882,441 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8922:Or4c3d
|
UTSW |
2 |
89,882,695 (GRCm39) |
start gained |
probably benign |
|
|
Z1176:Or4c3d
|
UTSW |
2 |
89,882,609 (GRCm39) |
missense |
probably benign |
|
|
| Predicted Primers |
PCR Primer
(F):5'- TTGCAGATGGCCACATAGCG -3'
(R):5'- TCTCTGGATGCAGCTGAGAG -3'
Sequencing Primer
(F):5'- ATAGCGGTCATAGGCCATCACTG -3'
(R):5'- CAGCTGAGAGTTCATGGATAGTCC -3'
|
| Posted On |
2015-08-18 |
Incidental Mutation