Incidental Mutation 'R3757:Or5v1b'
ID |
271502 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Or5v1b
|
Ensembl Gene |
ENSMUSG00000090675 |
Gene Name |
olfactory receptor family 5 subfamily V member 1B |
Synonyms |
MOR249-1P, GA_x6K02T2PSCP-1989071-1990024, Olfr111 |
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.499)
|
Stock # |
R3757 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
17 |
Chromosomal Location |
37818921-37843340 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 37841246 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Asparagine
at position 126
(I126N)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000150806
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000097325]
[ENSMUST00000214259]
[ENSMUST00000215424]
|
AlphaFold |
Q7TRK1 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000097325
AA Change: I126N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000094933 Gene: ENSMUSG00000090675 AA Change: I126N
Domain | Start | End | E-Value | Type |
Pfam:7tm_4
|
31 |
307 |
5.4e-54 |
PFAM |
Pfam:7TM_GPCR_Srsx
|
35 |
302 |
1.5e-5 |
PFAM |
Pfam:7tm_1
|
41 |
290 |
1.4e-28 |
PFAM |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000214259
AA Change: I126N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000215424
AA Change: I126N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 97.0%
- 20x: 94.3%
|
Validation Efficiency |
92% (35/38) |
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: 36 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adamtsl3 |
T |
A |
7: 81,986,415 (GRCm39) |
I9K |
probably benign |
Het |
Arhgap31 |
T |
C |
16: 38,457,362 (GRCm39) |
E82G |
probably damaging |
Het |
Asap2 |
T |
A |
12: 21,317,767 (GRCm39) |
S993T |
probably damaging |
Het |
Bmpr1a |
A |
T |
14: 34,156,624 (GRCm39) |
L134* |
probably null |
Het |
Cacna1e |
A |
G |
1: 154,509,442 (GRCm39) |
V271A |
probably damaging |
Het |
Cacna2d4 |
A |
G |
6: 119,218,124 (GRCm39) |
E153G |
probably damaging |
Het |
Cage1 |
A |
C |
13: 38,209,705 (GRCm39) |
F91V |
possibly damaging |
Het |
Cdh24 |
T |
C |
14: 54,869,637 (GRCm39) |
D760G |
possibly damaging |
Het |
Col9a1 |
T |
C |
1: 24,271,312 (GRCm39) |
|
probably null |
Het |
Cts6 |
A |
T |
13: 61,349,972 (GRCm39) |
Y36* |
probably null |
Het |
Dennd3 |
C |
G |
15: 73,394,083 (GRCm39) |
A36G |
probably benign |
Het |
Dmxl1 |
G |
A |
18: 50,068,384 (GRCm39) |
G2719D |
probably damaging |
Het |
Dnajc28 |
G |
A |
16: 91,413,755 (GRCm39) |
T187M |
probably damaging |
Het |
Ep300 |
T |
A |
15: 81,532,790 (GRCm39) |
V1676E |
unknown |
Het |
Ercc4 |
C |
T |
16: 12,962,360 (GRCm39) |
T668M |
probably benign |
Het |
G530012D18Rik |
CAGAGAGA |
CAGAGAGAGA |
1: 85,504,945 (GRCm39) |
|
probably null |
Het |
Gm10985 |
GCTCTCTCTCTCTCTCTCTCTCTCTCTCT |
GCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT |
3: 53,752,645 (GRCm39) |
|
probably null |
Het |
H1f4 |
T |
A |
13: 23,806,240 (GRCm39) |
K81* |
probably null |
Het |
Havcr1 |
G |
T |
11: 46,643,407 (GRCm39) |
R109L |
probably damaging |
Het |
Krtap4-9 |
A |
G |
11: 99,676,444 (GRCm39) |
|
probably benign |
Het |
Layn |
T |
C |
9: 50,970,856 (GRCm39) |
E229G |
probably benign |
Het |
Lpcat3 |
T |
A |
6: 124,676,955 (GRCm39) |
|
probably null |
Het |
Lrrn1 |
T |
A |
6: 107,546,169 (GRCm39) |
F656I |
possibly damaging |
Het |
Lypd1 |
A |
G |
1: 125,838,121 (GRCm39) |
|
probably benign |
Het |
Or4k41 |
T |
A |
2: 111,279,602 (GRCm39) |
V39E |
possibly damaging |
Het |
Or6c207 |
T |
C |
10: 129,104,934 (GRCm39) |
D86G |
probably damaging |
Het |
Ptprt |
A |
T |
2: 161,653,950 (GRCm39) |
L560Q |
probably damaging |
Het |
Rbm11 |
T |
C |
16: 75,393,469 (GRCm39) |
V55A |
probably damaging |
Het |
Scn11a |
C |
T |
9: 119,632,569 (GRCm39) |
V434I |
probably benign |
Het |
Serpinc1 |
A |
G |
1: 160,829,935 (GRCm39) |
T434A |
probably benign |
Het |
Setd2 |
T |
C |
9: 110,402,753 (GRCm39) |
I1798T |
probably damaging |
Het |
Sfswap |
A |
G |
5: 129,590,298 (GRCm39) |
Y265C |
probably damaging |
Het |
Slc9a8 |
C |
A |
2: 167,266,050 (GRCm39) |
T9K |
probably benign |
Het |
Synpo |
T |
C |
18: 60,736,062 (GRCm39) |
D389G |
probably damaging |
Het |
Vmn1r181 |
C |
T |
7: 23,683,909 (GRCm39) |
L125F |
possibly damaging |
Het |
Wdfy4 |
A |
C |
14: 32,745,331 (GRCm39) |
H2296Q |
probably benign |
Het |
|
Other mutations in Or5v1b |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01870:Or5v1b
|
APN |
17 |
37,841,555 (GRCm39) |
missense |
probably benign |
0.00 |
IGL02472:Or5v1b
|
APN |
17 |
37,841,640 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02511:Or5v1b
|
APN |
17 |
37,840,870 (GRCm39) |
start codon destroyed |
probably null |
0.99 |
BB009:Or5v1b
|
UTSW |
17 |
37,841,075 (GRCm39) |
missense |
probably benign |
0.31 |
BB019:Or5v1b
|
UTSW |
17 |
37,841,075 (GRCm39) |
missense |
probably benign |
0.31 |
R0335:Or5v1b
|
UTSW |
17 |
37,841,533 (GRCm39) |
missense |
probably benign |
0.01 |
R2006:Or5v1b
|
UTSW |
17 |
37,841,597 (GRCm39) |
missense |
probably damaging |
1.00 |
R4167:Or5v1b
|
UTSW |
17 |
37,840,897 (GRCm39) |
missense |
possibly damaging |
0.65 |
R4904:Or5v1b
|
UTSW |
17 |
37,841,522 (GRCm39) |
missense |
probably damaging |
1.00 |
R4952:Or5v1b
|
UTSW |
17 |
37,841,641 (GRCm39) |
missense |
possibly damaging |
0.48 |
R7366:Or5v1b
|
UTSW |
17 |
37,841,708 (GRCm39) |
missense |
probably damaging |
0.99 |
R7389:Or5v1b
|
UTSW |
17 |
37,841,548 (GRCm39) |
missense |
possibly damaging |
0.72 |
R7510:Or5v1b
|
UTSW |
17 |
37,841,480 (GRCm39) |
missense |
probably damaging |
0.98 |
R7932:Or5v1b
|
UTSW |
17 |
37,841,075 (GRCm39) |
missense |
probably benign |
0.31 |
R8080:Or5v1b
|
UTSW |
17 |
37,841,555 (GRCm39) |
missense |
probably benign |
0.00 |
R8326:Or5v1b
|
UTSW |
17 |
37,841,470 (GRCm39) |
missense |
probably benign |
0.19 |
R8828:Or5v1b
|
UTSW |
17 |
37,841,333 (GRCm39) |
missense |
probably damaging |
1.00 |
R9275:Or5v1b
|
UTSW |
17 |
37,841,819 (GRCm39) |
missense |
probably benign |
0.01 |
R9779:Or5v1b
|
UTSW |
17 |
37,841,048 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Predicted Primers |
PCR Primer
(F):5'- TGACCATAGCTGATTCCCACC -3'
(R):5'- ATGGACAGCAAAGCCAGTTC -3'
Sequencing Primer
(F):5'- GGAAATCTTGCCCTTATTGACATCTG -3'
(R):5'- CCAGTTCATTGAGGGAAGTATCACC -3'
|
Posted On |
2015-03-18 |