Mutagenetix > Incidental Mutation

Incidental Mutation 'R7510:Or5v1b'

582057

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

045583-MU

Accession Numbers

Essential gene?

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

Stock #

R7510 (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 37841480 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Asparagine at position 204 (I204N)

Ref Sequence

ENSEMBL: ENSMUSP00000150585 (fasta)

Gene Model

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

AlphaFold

Q7TRK1

Predicted Effect

probably damaging
Transcript: ENSMUST00000097325
AA Change: I204N

PolyPhen 2 Score 0.982 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000094933
Gene: ENSMUSG00000090675
AA Change: I204N

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: I204N

PolyPhen 2 Score 0.982 (Sensitivity: 0.75; Specificity: 0.96)

Predicted Effect

probably damaging
Transcript: ENSMUST00000215424
AA Change: I204N

PolyPhen 2 Score 0.982 (Sensitivity: 0.75; Specificity: 0.96)

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.0%

Validation Efficiency

97% (65/67)

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: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Atp2b1	C	T	10: 98,829,758 (GRCm39)	R320C	probably benign	Het
Bend4	A	G	5: 67,584,727 (GRCm39)	F66L	unknown	Het
Brca2	T	C	5: 150,460,156 (GRCm39)	V477A	possibly damaging	Het
Brms1l	A	T	12: 55,892,107 (GRCm39)	K134*	probably null	Het
Catsper1	A	T	19: 5,389,578 (GRCm39)	T498S	probably benign	Het
Ccdc177	C	A	12: 80,804,457 (GRCm39)	V606L	unknown	Het
D030056L22Rik	G	T	19: 18,690,853 (GRCm39)	A56S	possibly damaging	Het
Disp1	T	C	1: 182,869,975 (GRCm39)	N815S	probably damaging	Het
Dsc2	C	T	18: 20,165,331 (GRCm39)	G881R	possibly damaging	Het
Fancf	A	G	7: 51,511,953 (GRCm39)	V17A	probably damaging	Het
Fastkd2	T	A	1: 63,776,948 (GRCm39)	H361Q	possibly damaging	Het
Furin	A	G	7: 80,043,333 (GRCm39)	S293P	probably damaging	Het
Ghsr	A	T	3: 27,426,523 (GRCm39)	D193V	probably benign	Het
Gm14403	T	A	2: 177,200,403 (GRCm39)	N116K	probably benign	Het
Gpr31b	A	G	17: 13,270,557 (GRCm39)	L204P	probably damaging	Het
Hexim1	A	G	11: 103,008,067 (GRCm39)	E107G	probably benign	Het
Hspa14	T	C	2: 3,499,159 (GRCm39)	S212G	probably benign	Het
Il18r1	T	A	1: 40,514,035 (GRCm39)	H80Q	probably benign	Het
Itpr3	A	G	17: 27,308,013 (GRCm39)	T267A	probably damaging	Het
Kidins220	T	A	12: 25,042,268 (GRCm39)	H146Q	possibly damaging	Het
Larp4	T	C	15: 99,891,258 (GRCm39)	F228L	probably benign	Het
Ltbp1	T	A	17: 75,659,712 (GRCm39)	V1288E	probably damaging	Het
Madd	T	C	2: 91,008,321 (GRCm39)	T194A	possibly damaging	Het
Mlana	G	A	19: 29,682,072 (GRCm39)	G42S	probably benign	Het
Mlxipl	A	G	5: 135,161,972 (GRCm39)	E548G	possibly damaging	Het
Mmab	A	T	5: 114,573,283 (GRCm39)	C228S	probably benign	Het
Mmp1a	TG	TGG	9: 7,465,083 (GRCm38)		probably null	Het
Nrf1	C	T	6: 30,151,633 (GRCm39)	T490I	possibly damaging	Het
Numbl	A	G	7: 26,971,412 (GRCm39)		probably null	Het
Or12e13	T	A	2: 87,663,872 (GRCm39)	I163K	probably damaging	Het
Or13c7	A	G	4: 43,854,482 (GRCm39)	T58A	probably benign	Het
Or5bw2	C	T	7: 6,572,960 (GRCm39)		probably benign	Het
Or6c3b	G	T	10: 129,527,789 (GRCm39)	N40K	probably damaging	Het
Or9g8	T	A	2: 85,607,153 (GRCm39)	V75D	probably damaging	Het
Papln	G	A	12: 83,818,947 (GRCm39)	D96N	probably damaging	Het
Pcdhb14	T	C	18: 37,582,645 (GRCm39)	Y584H	probably damaging	Het
Pde7b	T	C	10: 20,288,761 (GRCm39)	D310G	possibly damaging	Het
Plin5	T	A	17: 56,420,975 (GRCm39)	H230L	probably damaging	Het
Ppp1r13l	A	C	7: 19,102,726 (GRCm39)	E47A	possibly damaging	Het
Prdm5	C	T	6: 65,904,976 (GRCm39)	H536Y	probably damaging	Het
Prickle2	T	C	6: 92,353,451 (GRCm39)	R728G	possibly damaging	Het
Prkca	A	T	11: 107,874,820 (GRCm39)	V374E	possibly damaging	Het
Prss3	A	T	6: 41,352,044 (GRCm39)	L73*	probably null	Het
Prss51	G	A	14: 64,333,489 (GRCm39)	D33N	probably damaging	Het
Rfwd3	A	G	8: 112,006,659 (GRCm39)	V479A	probably damaging	Het
Rpl36a-ps1	G	A	14: 99,231,666 (GRCm39)	T24I	probably benign	Het
Rps6ka5	T	C	12: 100,582,327 (GRCm39)	I182V	possibly damaging	Het
Saa2	T	A	7: 46,402,933 (GRCm39)	D61E	probably damaging	Het
Samd3	A	T	10: 26,106,006 (GRCm39)	I22F	probably benign	Het
Sap130	C	T	18: 31,800,057 (GRCm39)	P403L	probably damaging	Het
Sap130	A	G	18: 31,844,268 (GRCm39)	T813A	probably damaging	Het
Scfd2	A	G	5: 74,372,988 (GRCm39)	F629S	probably damaging	Het
Sec61a1	A	T	6: 88,489,585 (GRCm39)	F119I	probably benign	Het
Serpinb9	T	A	13: 33,194,768 (GRCm39)	F175I	probably damaging	Het
Slc12a3	G	T	8: 95,092,477 (GRCm39)	C966F	probably damaging	Het
Sptbn4	A	G	7: 27,127,693 (GRCm39)	V169A	probably benign	Het
Synj1	A	G	16: 90,735,565 (GRCm39)	S1463P	probably benign	Het
Tfec	T	A	6: 16,835,232 (GRCm39)	H182L	probably benign	Het
Tigd5	T	C	15: 75,782,268 (GRCm39)	V210A	probably benign	Het
Tssc4	G	A	7: 142,623,718 (GRCm39)	E9K	possibly damaging	Het
Txk	C	G	5: 72,893,726 (GRCm39)	C18S	unknown	Het
Uaca	G	A	9: 60,757,487 (GRCm39)		probably null	Het
Vmn2r1	A	C	3: 63,993,922 (GRCm39)	K89N	probably damaging	Het
Zfp160	G	A	17: 21,246,655 (GRCm39)	E402K	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
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
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'- TATTATGAACAAGGCCCTGTGCAG -3'
(R):5'- CGAGTAAGATGAGATGGGCCTC -3'

Sequencing Primer
(F):5'- TGGTTAGCAGCCTCATGC -3'
(R):5'- TGAGATGGGCCTCACATACGTG -3'

Posted On

2019-10-17