Mutagenetix > Incidental Mutation

Incidental Mutation 'R8080:Or5v1b'

629314

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

067513-MU

Accession Numbers

Essential gene?

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

Stock #

R8080 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

37818921-37843340 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 37841555 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Histidine at position 229 (R229H)

Ref Sequence

ENSEMBL: ENSMUSP00000150806 (fasta)

Gene Model

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

AlphaFold

Q7TRK1

Predicted Effect

probably benign
Transcript: ENSMUST00000097325
AA Change: R229H

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)

SMART Domains

Protein: ENSMUSP00000094933
Gene: ENSMUSG00000090675
AA Change: R229H

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: R229H

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)

Predicted Effect

probably benign
Transcript: ENSMUST00000215424
AA Change: R229H

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)

Meta Mutation Damage Score

0.0846

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.7%
20x: 94.9%

Validation Efficiency

100% (64/64)

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
Aloxe3	A	G	11: 69,023,900 (GRCm39)	Q277R	probably damaging	Het
Anapc5	T	C	5: 122,945,401 (GRCm39)	N226D	probably damaging	Het
Arb2a	T	A	13: 78,154,565 (GRCm39)	L316Q	probably damaging	Het
Bcl2l11	T	C	2: 127,970,586 (GRCm39)	C12R	probably damaging	Het
Bpnt1	A	G	1: 185,084,406 (GRCm39)	T168A	probably damaging	Het
Brca2	A	T	5: 150,463,357 (GRCm39)	E1040D	probably benign	Het
Cdca2	G	A	14: 67,915,004 (GRCm39)	Q752*	probably null	Het
Cntn2	T	C	1: 132,449,536 (GRCm39)	D635G	probably damaging	Het
Cntnap5b	A	T	1: 99,999,928 (GRCm39)	I229F	probably benign	Het
Ctr9	G	A	7: 110,650,774 (GRCm39)	E900K	possibly damaging	Het
Dmbt1	A	G	7: 130,690,500 (GRCm39)	Y911C	unknown	Het
Egflam	T	A	15: 7,427,561 (GRCm39)	D2V	probably benign	Het
Enpep	A	T	3: 129,092,783 (GRCm39)	N505K	probably damaging	Het
Fam13a	A	G	6: 58,933,790 (GRCm39)	S267P	probably damaging	Het
Fancc	G	T	13: 63,550,837 (GRCm39)	T12K		Het
Fbxo3	A	G	2: 103,864,012 (GRCm39)	Y89C	probably damaging	Het
Garem2	A	G	5: 30,313,385 (GRCm39)	Y83C	probably damaging	Het
Gm17079	T	C	14: 51,930,480 (GRCm39)	T122A		Het
Gm3696	A	T	14: 18,435,071 (GRCm39)	L71*	probably null	Het
Gm4559	C	T	7: 141,827,553 (GRCm39)	R183K	unknown	Het
Gmip	A	T	8: 70,268,736 (GRCm39)	T454S	possibly damaging	Het
Helz2	T	A	2: 180,880,055 (GRCm39)	T554S	probably damaging	Het
Hoxc9	C	T	15: 102,890,551 (GRCm39)	T156M	probably benign	Het
Hrc	A	G	7: 44,986,262 (GRCm39)	E471G	probably damaging	Het
Hydin	A	G	8: 111,261,863 (GRCm39)	I2655V	probably benign	Het
Ighv1-64	T	C	12: 115,471,463 (GRCm39)	H18R	probably benign	Het
Jcad	A	G	18: 4,649,270 (GRCm39)	Y47C	probably benign	Het
Jmjd4	A	G	11: 59,341,179 (GRCm39)	T37A	probably benign	Het
Kalrn	C	T	16: 33,796,038 (GRCm39)	G2915S	possibly damaging	Het
Kdm5d	T	C	Y: 910,742 (GRCm39)	F285L	probably benign	Het
Lmna	A	G	3: 88,393,868 (GRCm39)	F237L	probably damaging	Het
Med12l	A	G	3: 59,172,607 (GRCm39)	K1788E	probably damaging	Het
Mrgprb1	T	C	7: 48,096,658 (GRCm39)		probably null	Het
Myh1	T	A	11: 67,102,228 (GRCm39)	Y840N	probably benign	Het
Negr1	C	A	3: 156,866,357 (GRCm39)	A302E	probably damaging	Het
Nup188	T	C	2: 30,227,045 (GRCm39)	V1206A	possibly damaging	Het
Nup205	T	C	6: 35,204,311 (GRCm39)	L1399P	probably damaging	Het
Or13a20	T	C	7: 140,232,387 (GRCm39)	M165T	probably benign	Het
Or4a81	T	A	2: 89,618,971 (GRCm39)	I242F	possibly damaging	Het
Or6c69b	T	C	10: 129,626,997 (GRCm39)	I154V	probably benign	Het
Or8c14-ps1	T	C	9: 38,101,885 (GRCm39)	L288S	unknown	Het
Pcdhb4	A	G	18: 37,442,349 (GRCm39)	D553G	probably benign	Het
Phip	A	G	9: 82,769,662 (GRCm39)	L1147P	probably damaging	Het
Phlpp1	A	G	1: 106,320,706 (GRCm39)	D1567G	probably benign	Het
Pigz	T	C	16: 31,760,858 (GRCm39)	C20R	probably damaging	Het
Plpp1	A	G	13: 113,004,002 (GRCm39)	K252R	probably benign	Het
Polr2a	A	T	11: 69,625,874 (GRCm39)	S1759T	unknown	Het
Rbm42	G	T	7: 30,345,136 (GRCm39)	P212T	unknown	Het
Repin1	G	T	6: 48,574,279 (GRCm39)	E403*	probably null	Het
Slc35e1	G	A	8: 73,246,030 (GRCm39)	P134L		Het
Slc9a3	A	C	13: 74,314,146 (GRCm39)	Q818P	probably benign	Het
St3gal4	T	C	9: 35,017,617 (GRCm39)		probably null	Het
Stard3nl	G	T	13: 19,554,521 (GRCm39)	A151E	probably damaging	Het
Syt9	T	A	7: 107,035,997 (GRCm39)	I338N	probably benign	Het
Ticrr	A	T	7: 79,334,012 (GRCm39)		probably null	Het
Tlr4	T	A	4: 66,757,713 (GRCm39)	Y169N	probably damaging	Het
Tnc	A	C	4: 63,894,706 (GRCm39)	I1560S	possibly damaging	Het
Usp7	C	A	16: 8,515,771 (GRCm39)	D644Y	probably benign	Het
Utp20	A	G	10: 88,618,577 (GRCm39)	I1141T	possibly damaging	Het
Vmn2r111	T	C	17: 22,778,032 (GRCm39)	N549S	possibly damaging	Het
Vmn2r60	A	G	7: 41,790,521 (GRCm39)	M503V	probably benign	Het
Zfp384	T	C	6: 125,013,521 (GRCm39)	S530P	unknown	Het
Zfp600	T	A	4: 146,133,182 (GRCm39)	C617S	unknown	Het
Zfp819	A	G	7: 43,267,148 (GRCm39)	R544G	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
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'- GGACATGTGGGTTTCTCAACTC -3'
(R):5'- TTCAGCATGGGTGTGAAAACAC -3'

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

Posted On

2020-06-30