Incidental Mutation 'R1268:Or4c58'
| ID |
151201 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Or4c58
|
| Ensembl Gene |
ENSMUSG00000075072 |
| Gene Name |
olfactory receptor family 4 subfamily C member 58 |
| Synonyms |
Olfr48, IC3, GA_x6K02T2Q125-51285881-51284976, MOR232-5 |
| MMRRC Submission |
039335-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.068)
|
| Stock # |
R1268 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
89674410-89675315 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 89674498 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Threonine
at position 273
(I273T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000150505
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000099762]
[ENSMUST00000111520]
[ENSMUST00000213833]
[ENSMUST00000214428]
[ENSMUST00000215613]
|
| AlphaFold |
Q8VGN4 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000099762
AA Change: I273T
PolyPhen 2
Score 0.982 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000097350
Gene: ENSMUSG00000075072
AA Change: I273T
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7tm_4
|
26 |
299 |
1e-47 |
PFAM |
|
Pfam:7tm_1
|
36 |
282 |
8.5e-16 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000111520
|
| SMART Domains |
Protein: ENSMUSP00000107145
Gene: ENSMUSG00000075073
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7tm_4
|
29 |
303 |
2.5e-47 |
PFAM |
|
Pfam:7TM_GPCR_Srsx
|
33 |
300 |
1.1e-5 |
PFAM |
|
Pfam:7tm_1
|
39 |
285 |
1.3e-16 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000213833
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000214428
AA Change: I273T
PolyPhen 2
Score 0.982 (Sensitivity: 0.75; Specificity: 0.96)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000215613
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000216674
|
| Meta Mutation Damage Score |
0.6467 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.7%
- 20x: 93.6%
|
| Validation Efficiency |
100% (41/41) |
| 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 |
|---|
| Afdn |
T |
C |
17: 14,108,248 (GRCm39) |
V1257A |
probably damaging |
Het |
| Aplnr |
A |
G |
2: 84,967,775 (GRCm39) |
T267A |
possibly damaging |
Het |
| Arap2 |
A |
G |
5: 62,887,964 (GRCm39) |
S461P |
probably benign |
Het |
| Brpf3 |
A |
G |
17: 29,055,530 (GRCm39) |
T1160A |
probably damaging |
Het |
| Col5a1 |
A |
T |
2: 27,892,501 (GRCm39) |
T1005S |
unknown |
Het |
| Crebrf |
CTTTT |
CTTT |
17: 26,958,570 (GRCm39) |
|
probably null |
Het |
| Fmo6 |
A |
T |
1: 162,748,086 (GRCm39) |
I326N |
probably damaging |
Het |
| Foxp4 |
G |
C |
17: 48,191,278 (GRCm39) |
|
probably benign |
Het |
| Gnat1 |
A |
G |
9: 107,553,076 (GRCm39) |
|
probably benign |
Het |
| Hs6st1 |
T |
A |
1: 36,108,007 (GRCm39) |
V90D |
probably damaging |
Het |
| Igsf11 |
A |
G |
16: 38,845,216 (GRCm39) |
T257A |
probably benign |
Het |
| Ints2 |
C |
T |
11: 86,123,911 (GRCm39) |
G626R |
probably damaging |
Het |
| Mab21l3 |
C |
T |
3: 101,742,363 (GRCm39) |
E66K |
possibly damaging |
Het |
| Mroh2a |
C |
T |
1: 88,158,402 (GRCm39) |
R150* |
probably null |
Het |
| Mybl2 |
A |
G |
2: 162,916,636 (GRCm39) |
N429S |
probably benign |
Het |
| Mycbp2 |
G |
A |
14: 103,446,218 (GRCm39) |
T1837I |
probably damaging |
Het |
| Myh7b |
C |
A |
2: 155,455,966 (GRCm39) |
S117* |
probably null |
Het |
| Nek1 |
C |
A |
8: 61,475,298 (GRCm39) |
A202E |
probably damaging |
Het |
| Notum |
C |
T |
11: 120,549,493 (GRCm39) |
W159* |
probably null |
Het |
| Ntn1 |
TCCTCGGC |
TC |
11: 68,103,959 (GRCm39) |
|
probably benign |
Het |
| Nup58 |
A |
T |
14: 60,482,119 (GRCm39) |
|
probably benign |
Het |
| Or2w2 |
C |
T |
13: 21,758,498 (GRCm39) |
V43M |
probably benign |
Het |
| Or4f57 |
G |
T |
2: 111,791,222 (GRCm39) |
N65K |
possibly damaging |
Het |
| Or5b99 |
T |
C |
19: 12,976,625 (GRCm39) |
Y92H |
possibly damaging |
Het |
| Or5p69 |
A |
T |
7: 107,967,002 (GRCm39) |
I102F |
probably benign |
Het |
| Or7g12 |
T |
C |
9: 18,899,652 (GRCm39) |
F123L |
probably damaging |
Het |
| Plk4 |
T |
A |
3: 40,765,804 (GRCm39) |
V659D |
probably damaging |
Het |
| Rbm27 |
T |
C |
18: 42,466,367 (GRCm39) |
S866P |
probably damaging |
Het |
| Rnaseh2b |
A |
T |
14: 62,609,904 (GRCm39) |
K303N |
possibly damaging |
Het |
| Samd9l |
C |
T |
6: 3,376,113 (GRCm39) |
V383I |
possibly damaging |
Het |
| Shf |
G |
A |
2: 122,199,163 (GRCm39) |
P51S |
probably damaging |
Het |
| Slc35f2 |
T |
A |
9: 53,705,197 (GRCm39) |
Y62* |
probably null |
Het |
| Tenm2 |
C |
T |
11: 35,954,004 (GRCm39) |
G1236R |
possibly damaging |
Het |
| Ulk1 |
A |
G |
5: 110,938,143 (GRCm39) |
S610P |
probably damaging |
Het |
| Ulk4 |
C |
A |
9: 121,086,140 (GRCm39) |
|
probably benign |
Het |
| Vdr |
T |
C |
15: 97,755,356 (GRCm39) |
N389S |
probably benign |
Het |
|
| Other mutations in Or4c58 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01661:Or4c58
|
APN |
2 |
89,674,439 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02184:Or4c58
|
APN |
2 |
89,674,729 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL02408:Or4c58
|
APN |
2 |
89,675,315 (GRCm39) |
start codon destroyed |
probably benign |
0.04 |
|
IGL02437:Or4c58
|
APN |
2 |
89,675,128 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL02985:Or4c58
|
APN |
2 |
89,674,684 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
IGL03230:Or4c58
|
APN |
2 |
89,674,457 (GRCm39) |
missense |
probably benign |
|
|
IGL03393:Or4c58
|
APN |
2 |
89,674,913 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0482:Or4c58
|
UTSW |
2 |
89,674,513 (GRCm39) |
missense |
probably benign |
0.20 |
|
R0555:Or4c58
|
UTSW |
2 |
89,674,787 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1617:Or4c58
|
UTSW |
2 |
89,674,598 (GRCm39) |
missense |
probably benign |
0.03 |
|
R3552:Or4c58
|
UTSW |
2 |
89,674,687 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R4172:Or4c58
|
UTSW |
2 |
89,675,122 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4173:Or4c58
|
UTSW |
2 |
89,675,122 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4174:Or4c58
|
UTSW |
2 |
89,675,122 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5540:Or4c58
|
UTSW |
2 |
89,675,011 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5909:Or4c58
|
UTSW |
2 |
89,674,735 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R5941:Or4c58
|
UTSW |
2 |
89,674,859 (GRCm39) |
missense |
probably benign |
0.07 |
|
R7425:Or4c58
|
UTSW |
2 |
89,674,789 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7445:Or4c58
|
UTSW |
2 |
89,674,616 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7660:Or4c58
|
UTSW |
2 |
89,674,787 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7978:Or4c58
|
UTSW |
2 |
89,674,611 (GRCm39) |
nonsense |
probably null |
|
|
R7996:Or4c58
|
UTSW |
2 |
89,674,759 (GRCm39) |
missense |
probably benign |
0.28 |
|
R8026:Or4c58
|
UTSW |
2 |
89,675,273 (GRCm39) |
missense |
probably benign |
0.06 |
|
R9184:Or4c58
|
UTSW |
2 |
89,675,294 (GRCm39) |
missense |
probably benign |
0.06 |
|
R9420:Or4c58
|
UTSW |
2 |
89,674,715 (GRCm39) |
missense |
probably benign |
0.14 |
|
| Predicted Primers |
PCR Primer
(F):5'- GCTTGACCTACCATCAACACACGTT -3'
(R):5'- TGACCTGACCCCTTTGCTGAAAC -3'
Sequencing Primer
(F):5'- GTTAGCATATGCTATTCACTATGCTC -3'
(R):5'- GCCAACAGTGGCTTTATCTG -3'
|
| Posted On |
2014-01-29 |
Incidental Mutation