Mutagenetix > Incidental Mutation

Incidental Mutation 'R7389:Or5v1b'

573328

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

MMRRC Submission

045471-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.499) question?

Stock #

R7389 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

37818921-37843340 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 37841548 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Glycine at position 227 (R227G)

Ref Sequence

ENSEMBL: ENSMUSP00000150585 (fasta)

Gene Model

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

AlphaFold

Q7TRK1

Predicted Effect

possibly damaging
Transcript: ENSMUST00000097325
AA Change: R227G

PolyPhen 2 Score 0.716 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000094933
Gene: ENSMUSG00000090675
AA Change: R227G

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

possibly damaging
Transcript: ENSMUST00000214259
AA Change: R227G

PolyPhen 2 Score 0.716 (Sensitivity: 0.86; Specificity: 0.92)

Predicted Effect

possibly damaging
Transcript: ENSMUST00000215424
AA Change: R227G

PolyPhen 2 Score 0.716 (Sensitivity: 0.86; Specificity: 0.92)

Meta Mutation Damage Score

0.2155

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.0%

Validation Efficiency

98% (49/50)

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: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Anxa11	C	A	14: 25,873,312 (GRCm39)	P182Q	probably damaging	Het
Asns	C	A	6: 7,689,291 (GRCm39)	L70F	probably damaging	Het
Cntrl	A	T	2: 35,017,529 (GRCm39)	K445N	probably benign	Het
Cyp2c50	G	T	19: 40,079,107 (GRCm39)	R150L	probably benign	Het
Dqx1	G	T	6: 83,041,775 (GRCm39)	S539I	probably null	Het
Dusp9	TAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCTAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCTAAAGCGGAGGCCAAAGCGGAGGCCAAAG	TAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCTAAAGCGGAGGCCAAAGCGGAGGCCAAAG	X: 72,684,217 (GRCm39)		probably benign	Het
Epha3	T	C	16: 63,593,347 (GRCm39)	E247G	probably damaging	Het
Etl4	C	T	2: 20,789,904 (GRCm39)	Q801*	probably null	Het
Fabp2	G	T	3: 122,689,014 (GRCm39)		probably benign	Het
Fsip2	G	A	2: 82,819,140 (GRCm39)	V4958I	possibly damaging	Het
Fstl3	G	A	10: 79,615,865 (GRCm39)	C117Y	probably damaging	Het
Hdgfl2	T	G	17: 56,406,389 (GRCm39)		probably null	Het
Igfn1	T	C	1: 135,894,785 (GRCm39)	D1927G	probably benign	Het
Ino80	A	C	2: 119,273,010 (GRCm39)	S489A	probably benign	Het
Krt15	A	T	11: 100,026,386 (GRCm39)	V100E	possibly damaging	Het
Lrriq3	A	G	3: 154,893,741 (GRCm39)	T481A	probably benign	Het
Map2k3	A	T	11: 60,822,862 (GRCm39)		probably benign	Het
Matr3	A	G	18: 35,717,638 (GRCm39)	T617A	probably benign	Het
Mybpc2	T	G	7: 44,155,028 (GRCm39)	T960P	probably benign	Het
Ncoa2	T	C	1: 13,257,049 (GRCm39)	N150S	possibly damaging	Het
Nup153	A	T	13: 46,854,463 (GRCm39)		probably null	Het
Obscn	A	G	11: 58,927,226 (GRCm39)	L5498P	probably benign	Het
Or5b21	G	T	19: 12,839,981 (GRCm39)	V281L	probably benign	Het
Paqr8	C	A	1: 21,005,389 (GRCm39)	P181Q	probably damaging	Het
Pcdhgb4	T	C	18: 37,855,416 (GRCm39)	Y604H	probably damaging	Het
Pja2	T	A	17: 64,604,722 (GRCm39)	E487V	probably damaging	Het
Pnpla6	C	T	8: 3,593,981 (GRCm39)	R1331*	probably null	Het
Ppl	T	A	16: 4,924,577 (GRCm39)		probably null	Het
Rhbdl3	T	A	11: 80,237,665 (GRCm39)	M299K	possibly damaging	Het
Scart1	A	G	7: 139,808,704 (GRCm39)	K872E	possibly damaging	Het
Slc26a9	A	G	1: 131,696,986 (GRCm39)	*791W	probably null	Het
Slc7a2	A	G	8: 41,365,552 (GRCm39)	Y461C	probably benign	Het
Sptb	G	T	12: 76,671,003 (GRCm39)	Q447K	probably damaging	Het
Ssh1	A	T	5: 114,096,892 (GRCm39)	I205N	probably benign	Het
Stab1	C	T	14: 30,869,196 (GRCm39)	V1511I	probably benign	Het
Tex19.1	T	C	11: 121,037,986 (GRCm39)	W115R	possibly damaging	Het
Tinf2	G	T	14: 55,918,167 (GRCm39)		probably null	Het
Tmeff1	A	G	4: 48,617,097 (GRCm39)		probably null	Het
Tnip2	G	T	5: 34,671,145 (GRCm39)	Q33K	probably benign	Het
Traf3	C	A	12: 111,204,187 (GRCm39)	L59M	probably damaging	Het
Trav14d-3-dv8	T	C	14: 53,316,328 (GRCm39)	Y63H	possibly damaging	Het
Trim11	C	T	11: 58,881,481 (GRCm39)	S458L	probably damaging	Het
Tspan18	A	T	2: 93,040,272 (GRCm39)	V161E	probably benign	Het
Usf3	T	A	16: 44,038,304 (GRCm39)	V928E	probably benign	Het
Usp29	G	A	7: 6,966,457 (GRCm39)	V767I	possibly damaging	Het
Usp34	T	G	11: 23,295,200 (GRCm39)	F287L		Het
Vmn1r213	T	C	13: 23,196,556 (GRCm39)	C380R	probably benign	Het
Zfyve9	A	G	4: 108,550,515 (GRCm39)		probably null	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
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'- CTGGACATGTGGGTTTCTCAAC -3'
(R):5'- GGGTGTGAAAACACTATACAGC -3'

Sequencing Primer
(F):5'- GTGTTGCACACCGTTCTGAC -3'
(R):5'- TACAGCACTGAGATCAATCTGTC -3'

Posted On

2019-09-13