Incidental Mutation 'R1637:Or4c114'
| ID |
173223 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Or4c114
|
| Ensembl Gene |
ENSMUSG00000075104 |
| Gene Name |
olfactory receptor family 4 subfamily C member 114 |
| Synonyms |
GA_x6K02T2Q125-50555603-50554668, MOR233-6, Olfr1219 |
| MMRRC Submission |
039673-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.084)
|
| Stock # |
R1637 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
2 |
| Chromosomal Location |
88904498-88905433 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 88905396 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Glutamine
at position 13
(L13Q)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000150043
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000099797]
[ENSMUST00000213724]
[ENSMUST00000214442]
[ENSMUST00000215225]
[ENSMUST00000217421]
|
| AlphaFold |
Q7TR04 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000099797
AA Change: L13Q
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000097385
Gene: ENSMUSG00000075104
AA Change: L13Q
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7tm_4
|
29 |
303 |
3e-46 |
PFAM |
|
Pfam:7tm_1
|
39 |
286 |
1.5e-16 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000213724
AA Change: L13Q
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000214442
AA Change: L13Q
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000215225
AA Change: L13Q
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000217421
AA Change: L13Q
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.4%
- 10x: 96.4%
- 20x: 92.9%
|
| 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: 47 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930522L14Rik |
T |
A |
5: 109,886,858 (GRCm39) |
H50L |
probably benign |
Het |
| A2m |
C |
A |
6: 121,631,571 (GRCm39) |
L623M |
probably benign |
Het |
| Agpat5 |
A |
G |
8: 18,931,827 (GRCm39) |
R316G |
probably benign |
Het |
| Ankrd39 |
G |
A |
1: 36,578,573 (GRCm39) |
Q151* |
probably null |
Het |
| Arl13b |
T |
C |
16: 62,651,147 (GRCm39) |
D30G |
probably damaging |
Het |
| Atpaf1 |
A |
G |
4: 115,645,499 (GRCm39) |
S123G |
probably benign |
Het |
| Bicra |
A |
G |
7: 15,706,614 (GRCm39) |
S1276P |
probably benign |
Het |
| Car1 |
T |
C |
3: 14,842,846 (GRCm39) |
I60V |
possibly damaging |
Het |
| Cnbd2 |
A |
G |
2: 156,215,644 (GRCm39) |
I411V |
probably damaging |
Het |
| Cyp2c37 |
A |
T |
19: 39,990,426 (GRCm39) |
K375* |
probably null |
Het |
| Cysrt1 |
T |
C |
2: 25,129,297 (GRCm39) |
I72V |
probably benign |
Het |
| Dock9 |
T |
A |
14: 121,889,187 (GRCm39) |
D312V |
possibly damaging |
Het |
| Ecd |
T |
C |
14: 20,396,760 (GRCm39) |
I42V |
probably damaging |
Het |
| Ercc5 |
A |
G |
1: 44,206,694 (GRCm39) |
T536A |
probably benign |
Het |
| Gjd2 |
A |
T |
2: 113,841,789 (GRCm39) |
Y229* |
probably null |
Het |
| Gramd1b |
A |
T |
9: 40,215,834 (GRCm39) |
|
probably null |
Het |
| Hcrtr2 |
T |
C |
9: 76,140,281 (GRCm39) |
T336A |
probably benign |
Het |
| Hjurp |
G |
A |
1: 88,193,843 (GRCm39) |
S279F |
probably benign |
Het |
| Ift140 |
C |
T |
17: 25,244,608 (GRCm39) |
L152F |
probably benign |
Het |
| Izumo1r |
A |
G |
9: 14,813,105 (GRCm39) |
C56R |
probably damaging |
Het |
| Kif7 |
T |
C |
7: 79,352,585 (GRCm39) |
E850G |
probably damaging |
Het |
| Larp4b |
C |
G |
13: 9,201,133 (GRCm39) |
T335S |
probably benign |
Het |
| Lmo7 |
A |
T |
14: 102,118,268 (GRCm39) |
R42S |
probably damaging |
Het |
| Lrrk2 |
T |
G |
15: 91,618,261 (GRCm39) |
L920R |
probably benign |
Het |
| Mapk8 |
G |
A |
14: 33,132,919 (GRCm39) |
R6C |
probably benign |
Het |
| Mpped1 |
C |
T |
15: 83,676,191 (GRCm39) |
|
probably benign |
Het |
| Myoc |
A |
G |
1: 162,466,936 (GRCm39) |
Y35C |
probably damaging |
Het |
| Ndufb8 |
C |
T |
19: 44,543,474 (GRCm39) |
M66I |
probably benign |
Het |
| Nkpd1 |
T |
C |
7: 19,257,904 (GRCm39) |
I411T |
probably benign |
Het |
| Nrxn3 |
A |
G |
12: 89,321,238 (GRCm39) |
N382S |
possibly damaging |
Het |
| Or2t47 |
A |
T |
11: 58,442,246 (GRCm39) |
V273E |
possibly damaging |
Het |
| Pear1 |
T |
C |
3: 87,664,060 (GRCm39) |
E303G |
probably damaging |
Het |
| Plekhg4 |
T |
A |
8: 106,108,413 (GRCm39) |
M1047K |
probably benign |
Het |
| Pofut1 |
T |
G |
2: 153,107,709 (GRCm39) |
F268C |
probably damaging |
Het |
| Psrc1 |
G |
T |
3: 108,292,609 (GRCm39) |
S134I |
probably damaging |
Het |
| Slc6a2 |
A |
T |
8: 93,708,618 (GRCm39) |
I245F |
probably benign |
Het |
| Slc9a1 |
T |
C |
4: 133,149,534 (GRCm39) |
S787P |
probably benign |
Het |
| Sorcs3 |
T |
A |
19: 48,736,798 (GRCm39) |
|
probably null |
Het |
| Syne2 |
C |
A |
12: 76,042,776 (GRCm39) |
H3916N |
probably damaging |
Het |
| Taar6 |
A |
G |
10: 23,861,079 (GRCm39) |
S156P |
probably benign |
Het |
| Tnn |
A |
G |
1: 159,975,170 (GRCm39) |
F86L |
probably damaging |
Het |
| Tspear |
T |
A |
10: 77,706,253 (GRCm39) |
L341H |
possibly damaging |
Het |
| Ttll8 |
A |
G |
15: 88,798,647 (GRCm39) |
V696A |
probably benign |
Het |
| Utrn |
C |
A |
10: 12,312,108 (GRCm39) |
D616Y |
probably damaging |
Het |
| Vmn2r18 |
A |
T |
5: 151,508,222 (GRCm39) |
C301S |
probably damaging |
Het |
| Xdh |
T |
C |
17: 74,207,573 (GRCm39) |
Y928C |
probably benign |
Het |
| Zfand1 |
G |
A |
3: 10,411,042 (GRCm39) |
A104V |
probably benign |
Het |
|
| Other mutations in Or4c114 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01432:Or4c114
|
APN |
2 |
88,904,545 (GRCm39) |
missense |
probably benign |
0.04 |
|
R0437:Or4c114
|
UTSW |
2 |
88,904,956 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0653:Or4c114
|
UTSW |
2 |
88,904,808 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R1837:Or4c114
|
UTSW |
2 |
88,905,176 (GRCm39) |
nonsense |
probably null |
|
|
R1906:Or4c114
|
UTSW |
2 |
88,905,414 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R2234:Or4c114
|
UTSW |
2 |
88,904,592 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2351:Or4c114
|
UTSW |
2 |
88,904,743 (GRCm39) |
missense |
possibly damaging |
0.74 |
|
R2420:Or4c114
|
UTSW |
2 |
88,905,336 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
R2421:Or4c114
|
UTSW |
2 |
88,905,336 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
R3438:Or4c114
|
UTSW |
2 |
88,904,707 (GRCm39) |
missense |
probably benign |
0.08 |
|
R4470:Or4c114
|
UTSW |
2 |
88,905,382 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4607:Or4c114
|
UTSW |
2 |
88,904,656 (GRCm39) |
missense |
probably benign |
0.08 |
|
R4608:Or4c114
|
UTSW |
2 |
88,904,656 (GRCm39) |
missense |
probably benign |
0.08 |
|
R4693:Or4c114
|
UTSW |
2 |
88,905,412 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
R5382:Or4c114
|
UTSW |
2 |
88,905,079 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5460:Or4c114
|
UTSW |
2 |
88,905,208 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5504:Or4c114
|
UTSW |
2 |
88,905,024 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6053:Or4c114
|
UTSW |
2 |
88,904,898 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7057:Or4c114
|
UTSW |
2 |
88,904,808 (GRCm39) |
missense |
possibly damaging |
0.56 |
|
R7323:Or4c114
|
UTSW |
2 |
88,904,811 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7606:Or4c114
|
UTSW |
2 |
88,905,641 (GRCm39) |
start gained |
probably benign |
|
|
R8229:Or4c114
|
UTSW |
2 |
88,905,382 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
T0722:Or4c114
|
UTSW |
2 |
88,905,303 (GRCm39) |
missense |
probably benign |
0.07 |
|
Z1176:Or4c114
|
UTSW |
2 |
88,904,782 (GRCm39) |
missense |
probably benign |
0.04 |
|
| Predicted Primers |
PCR Primer
(F):5'- TTCTGCCCCAGTGAAGAAGTGGAC -3'
(R):5'- CAGGCTACTCAGACATGGCTCATTC -3'
Sequencing Primer
(F):5'- GATGGTCTTCCTTTCATAGAAGCAG -3'
(R):5'- TGGCTCATTCCATGAAGAGAC -3'
|
| Posted On |
2014-04-24 |
Incidental Mutation