Mutagenetix > Incidental Mutation

Incidental Mutation 'R9275:Or5v1b'

703257

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) question?

Stock #

R9275 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

37818921-37843340 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 37841819 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Lysine at position 317 (M317K)

Ref Sequence

ENSEMBL: ENSMUSP00000150585 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000097325] [ENSMUST00000214259] [ENSMUST00000215424]

AlphaFold

Q7TRK1

Predicted Effect

probably benign
Transcript: ENSMUST00000097325
AA Change: M317K

PolyPhen 2 Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)

SMART Domains

Protein: ENSMUSP00000094933
Gene: ENSMUSG00000090675
AA Change: M317K

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 benign
Transcript: ENSMUST00000214259
AA Change: M317K

PolyPhen 2 Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)

Predicted Effect

probably benign
Transcript: ENSMUST00000215424
AA Change: M317K

PolyPhen 2 Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.6%

Validation Efficiency

100% (66/66)

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: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abr	A	G	11: 76,355,108 (GRCm39)	Y249H	probably damaging	Het
Afdn	T	A	17: 14,024,270 (GRCm39)	C59S	probably damaging	Het
Akap11	C	A	14: 78,751,149 (GRCm39)	V413F		Het
Ank3	T	C	10: 69,822,662 (GRCm39)	S444P	probably damaging	Het
Ankrd12	C	T	17: 66,344,599 (GRCm39)	E91K	possibly damaging	Het
Arhgap10	A	G	8: 78,137,665 (GRCm39)	S309P	probably damaging	Het
Arpc2	C	A	1: 74,276,041 (GRCm39)	F19L	probably benign	Het
Atp5f1a	C	T	18: 77,868,997 (GRCm39)	T457I	probably damaging	Het
Bsn	C	T	9: 107,988,819 (GRCm39)	R2311H	probably damaging	Het
C1ra	A	G	6: 124,494,383 (GRCm39)	T277A	probably benign	Het
Celsr3	C	G	9: 108,715,689 (GRCm39)	L2124V	probably benign	Het
Cenpv	T	C	11: 62,415,989 (GRCm39)	*253W	probably null	Het
Cfap54	A	T	10: 92,875,048 (GRCm39)	V479E	possibly damaging	Het
Clec1a	T	C	6: 129,428,564 (GRCm39)		probably benign	Het
Cmpk2	A	T	12: 26,519,568 (GRCm39)	Y73F	probably benign	Het
Cpne2	T	C	8: 95,281,643 (GRCm39)	I226T	possibly damaging	Het
Cyp2c67	C	T	19: 39,597,699 (GRCm39)	R433Q	probably damaging	Het
Dagla	A	G	19: 10,232,220 (GRCm39)	Y489H	probably damaging	Het
Dennd4a	C	A	9: 64,749,906 (GRCm39)	P166T	probably damaging	Het
Dnm2	C	T	9: 21,416,977 (GRCm39)	R837W	possibly damaging	Het
Enpp2	C	T	15: 54,713,484 (GRCm39)	R658Q	probably benign	Het
Gm10521	G	A	1: 171,724,030 (GRCm39)	V114I	unknown	Het
H2-T24	T	A	17: 36,328,276 (GRCm39)	E69V	probably damaging	Het
H6pd	T	A	4: 150,080,307 (GRCm39)	K179N	probably damaging	Het
Hsf2bp	C	T	17: 32,206,336 (GRCm39)	W265*	probably null	Het
Igfn1	C	A	1: 135,901,185 (GRCm39)	R431L	probably damaging	Het
Kcng2	T	C	18: 80,339,074 (GRCm39)	S405G	possibly damaging	Het
Leng9	T	C	7: 4,151,447 (GRCm39)	T410A	probably benign	Het
Lrp1b	T	C	2: 40,487,076 (GRCm39)	Y4557C		Het
Ltbp2	G	A	12: 84,837,864 (GRCm39)	P1192L	probably benign	Het
Mlkl	A	G	8: 112,043,055 (GRCm39)	V364A	probably benign	Het
Mns1	T	A	9: 72,356,507 (GRCm39)	F254Y	probably benign	Het
Naip1	T	A	13: 100,562,684 (GRCm39)	N827I	probably damaging	Het
Neb	C	T	2: 52,146,190 (GRCm39)	R2929H	probably damaging	Het
Or5m13	A	G	2: 85,749,046 (GRCm39)	Y259C	probably benign	Het
Pde10a	A	G	17: 9,200,488 (GRCm39)	*797W	probably null	Het
Pirb	T	G	7: 3,719,859 (GRCm39)	H429P	probably benign	Het
Plbd1	A	G	6: 136,594,286 (GRCm39)	L321P	probably damaging	Het
Pmfbp1	A	G	8: 110,262,471 (GRCm39)	I722V	probably benign	Het
Polr2b	A	G	5: 77,471,485 (GRCm39)	R274G	probably damaging	Het
Prune2	C	T	19: 17,101,144 (GRCm39)	T2216I	probably benign	Het
Psma3	A	T	12: 71,041,156 (GRCm39)	D252V	probably benign	Het
Ptpn1	C	T	2: 167,816,176 (GRCm39)	T230I	probably damaging	Het
Rhpn1	T	C	15: 75,585,120 (GRCm39)	V519A	possibly damaging	Het
Rnf213	T	C	11: 119,326,768 (GRCm39)	V1586A		Het
Rrp36	T	A	17: 46,983,306 (GRCm39)	K103*	probably null	Het
Ryr2	T	C	13: 11,897,976 (GRCm39)	T140A	probably benign	Het
Scn1a	T	A	2: 66,130,026 (GRCm39)	Y243F	probably damaging	Het
Sdk1	A	G	5: 141,941,953 (GRCm39)	T534A	possibly damaging	Het
Slc27a5	T	C	7: 12,731,640 (GRCm39)	D117G	probably damaging	Het
Slc2a1	A	T	4: 118,990,607 (GRCm39)	E246D	probably benign	Het
Smpd2	T	C	10: 41,363,685 (GRCm39)	D289G	probably benign	Het
Spag6	A	C	2: 18,703,985 (GRCm39)	E11A	probably benign	Het
Stard3	G	A	11: 98,262,931 (GRCm39)		probably benign	Het
Tcf19	A	G	17: 35,825,899 (GRCm39)	V86A	probably damaging	Het
Tcstv7a	T	C	13: 120,289,993 (GRCm39)	S68G	possibly damaging	Het
Tigit	A	T	16: 43,479,833 (GRCm39)	M154K	probably benign	Het
Trim34a	T	A	7: 103,910,201 (GRCm39)	N334K	probably damaging	Het
Tsen15	T	C	1: 152,259,098 (GRCm39)	I87V	probably damaging	Het
Ttn	A	T	2: 76,738,218 (GRCm39)	M4153K	unknown	Het
Uchl3	A	T	14: 101,905,963 (GRCm39)		probably null	Het
Usp1	A	G	4: 98,819,578 (GRCm39)	K347E	probably damaging	Het
Vmn1r73	T	C	7: 11,490,479 (GRCm39)	M99T	probably benign	Het
Vmn2r20	A	G	6: 123,362,394 (GRCm39)	W797R	probably damaging	Het
Vwa7	A	G	17: 35,238,712 (GRCm39)	T267A	probably damaging	Het
Zpld2	A	G	4: 133,922,770 (GRCm39)	L521P	probably damaging	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
R3757:Or5v1b	UTSW	17	37,841,246 (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
R9779:Or5v1b	UTSW	17	37,841,048 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GAGGCCCATCTCATCTTACTCG -3'
(R):5'- ACCATCTTTAGACGAGGATTCC -3'

Sequencing Primer
(F):5'- TCGCTAGAGAAAGACAGATTGATCTC -3'
(R):5'- CTTTAGACGAGGATTCCAAAATGG -3'

Posted On

2022-03-25