Mutagenetix > Incidental Mutation

Incidental Mutation 'R9631:Or5b97'

725540

Institutional Source

Beutler Lab

Gene Symbol

Or5b97

Ensembl Gene

ENSMUSG00000060303

Gene Name

olfactory receptor family 5 subfamily B member 97

Synonyms

MOR202-3, Olfr1447, GA_x6K02T2RE5P-3231251-3230331

MMRRC Submission

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.065) question?

Stock #

R9631 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

12878213-12879142 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 12878502 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 214 (V214A)

Ref Sequence

ENSEMBL: ENSMUSP00000149392 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000071484] [ENSMUST00000208343] [ENSMUST00000216989]

AlphaFold

Q8VFX3

Predicted Effect

possibly damaging
Transcript: ENSMUST00000071484
AA Change: V214A

PolyPhen 2 Score 0.693 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000071419
Gene: ENSMUSG00000060303
AA Change: V214A

Domain	Start	End	E-Value	Type
Pfam:7tm_4	32	309	5.3e-50	PFAM
Pfam:7TM_GPCR_Srsx	36	306	2.1e-7	PFAM
Pfam:7tm_1	42	291	7.4e-20	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000208343

Predicted Effect

possibly damaging
Transcript: ENSMUST00000216989
AA Change: V214A

PolyPhen 2 Score 0.693 (Sensitivity: 0.86; Specificity: 0.92)

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.1%

Validation Efficiency

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: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Atl3	A	G	19: 7,509,553 (GRCm39)	N427S	probably benign	Het
Bcar3	T	A	3: 122,301,801 (GRCm39)	D165E	possibly damaging	Het
Brap	T	C	5: 121,822,435 (GRCm39)	I437T	probably benign	Het
Bspry	T	C	4: 62,400,955 (GRCm39)		probably null	Het
Camkv	G	T	9: 107,822,990 (GRCm39)	V77L	probably benign	Het
Capn15	A	T	17: 26,182,409 (GRCm39)	D566E	probably damaging	Het
Ccar2	A	G	14: 70,389,344 (GRCm39)	V76A	probably damaging	Het
Ccdc142	T	C	6: 83,084,142 (GRCm39)	C516R	probably benign	Het
Ccdc92b	T	A	11: 74,520,845 (GRCm39)	V49E		Het
Ccr7	A	G	11: 99,036,616 (GRCm39)	V102A	probably benign	Het
Cdh23	A	T	10: 60,243,168 (GRCm39)	V1069E	possibly damaging	Het
Cimip2c	A	G	5: 30,639,529 (GRCm39)	D152G		Het
Clpb	T	G	7: 101,434,605 (GRCm39)	V467G	possibly damaging	Het
Crebzf	T	A	7: 90,093,013 (GRCm39)	L264Q	probably damaging	Het
Ctif	A	G	18: 75,605,025 (GRCm39)	F505L	probably benign	Het
Cyp2j5	A	G	4: 96,529,522 (GRCm39)	I283T	probably benign	Het
Ddx39a	C	A	8: 84,447,729 (GRCm39)	H191Q	possibly damaging	Het
Dnajc9	A	T	14: 20,438,670 (GRCm39)		probably null	Het
Dock7	A	G	4: 98,854,560 (GRCm39)	L1568P	unknown	Het
Dpp10	T	C	1: 123,269,432 (GRCm39)	Y659C	probably damaging	Het
Eef1akmt3	A	G	10: 126,877,161 (GRCm39)	F35L	probably benign	Het
Etl4	A	T	2: 20,666,749 (GRCm39)	N52I	probably benign	Het
F5	T	A	1: 164,014,423 (GRCm39)	C565S	probably damaging	Het
Fam170b	T	C	14: 32,557,641 (GRCm39)	S159P	probably damaging	Het
Fitm2	A	G	2: 163,311,757 (GRCm39)	I152T	probably damaging	Het
Fn1	T	C	1: 71,625,387 (GRCm39)	D2473G	probably benign	Het
Fzd2	C	A	11: 102,496,916 (GRCm39)	D453E	probably benign	Het
Grm5	T	C	7: 87,624,560 (GRCm39)	Y376H	probably damaging	Het
H2-Q6	T	A	17: 35,644,292 (GRCm39)	H91Q	probably benign	Het
Hspa4	A	T	11: 53,160,582 (GRCm39)	V498E	possibly damaging	Het
Igsf10	A	T	3: 59,237,904 (GRCm39)	L759H	probably damaging	Het
Jph1	T	C	1: 17,161,607 (GRCm39)	T352A	probably damaging	Het
Kit	C	T	5: 75,767,689 (GRCm39)	T24M	possibly damaging	Het
Krtap28-13	T	G	1: 83,038,897 (GRCm39)	C61G	unknown	Het
Lgr5	T	A	10: 115,302,513 (GRCm39)	I293F	probably damaging	Het
Lyzl4	GGACACACTGCAGAGGGAGTGGAGAGAAAGGGACCCACCAGTGCAAGACACACTGCAGAGGGAGTGGAGAGAAAGGGACCCACCAGTGCAGGACACACTGCAGAGG	GGACACACTGCAGAGGGAGTGGAGAGAAAGGGACCCACCAGTGCAGGACACACTGCAGAGG	9: 121,413,055 (GRCm39)		probably null	Het
Mccc1	C	A	3: 36,014,185 (GRCm39)	E711*	probably null	Het
Mroh2b	C	T	15: 4,946,556 (GRCm39)	T452I	probably damaging	Het
Ms4a10	G	A	19: 10,944,451 (GRCm39)	T111I	probably damaging	Het
Myh11	A	T	16: 14,025,441 (GRCm39)	V1443E		Het
Oc90	A	G	15: 65,769,629 (GRCm39)	L76P	probably damaging	Het
Or10d3	G	A	9: 39,461,508 (GRCm39)	R220*	probably null	Het
Or4c118	T	C	2: 88,975,522 (GRCm39)		probably benign	Het
Or4f57	A	G	2: 111,791,377 (GRCm39)	F14L	probably benign	Het
Or56a42-ps1	A	T	7: 104,775,607 (GRCm39)	I290N	probably damaging	Het
Or8b57	A	G	9: 40,004,223 (GRCm39)	V13A	probably damaging	Het
Or8c10	G	A	9: 38,279,714 (GRCm39)	V281M	possibly damaging	Het
Or8g52	A	T	9: 39,631,161 (GRCm39)	T213S	possibly damaging	Het
Pgr	C	A	9: 8,900,847 (GRCm39)	Q127K	probably benign	Het
Qrich2	GCTGCACCTGGTTGCAACACACCAGGCTGAACTGCACCTGGTTGCAACACACCAGGCTGAACTGCACCTGGTTGCAACACACCAGGCTGAACTGCACCTGGTTG	GCTGCACCTGGTTGCAACACACCAGGCTGAACTGCACCTGGTTGCAACACACCAGGCTGAACTGCACCTGGTTG	11: 116,348,367 (GRCm39)		probably benign	Het
Rfc1	C	T	5: 65,429,851 (GRCm39)	V852M	probably damaging	Het
Rin2	T	A	2: 145,718,437 (GRCm39)	L639H	probably damaging	Het
Rpap2	T	A	5: 107,768,292 (GRCm39)	W377R	probably damaging	Het
Senp7	T	C	16: 55,975,631 (GRCm39)	S446P	probably benign	Het
Sipa1l1	A	G	12: 82,387,776 (GRCm39)	M1V	probably null	Het
Slc25a36	A	C	9: 96,982,153 (GRCm39)	S61A	probably benign	Het
Sptbn2	C	T	19: 4,788,218 (GRCm39)	R1066W	probably damaging	Het
Tgm6	A	G	2: 129,977,810 (GRCm39)	S50G	probably benign	Het
Thada	T	C	17: 84,538,584 (GRCm39)	S1475G	probably benign	Het
Tln1	G	A	4: 43,545,694 (GRCm39)	A928V	probably damaging	Het
Trip11	G	A	12: 101,859,807 (GRCm39)	L357F	probably benign	Het
Ttc3	G	T	16: 94,171,581 (GRCm39)		probably benign	Het
Ttc38	T	C	15: 85,728,659 (GRCm39)	S204P	possibly damaging	Het
Vmn1r237	A	T	17: 21,534,660 (GRCm39)	I128F	probably benign	Het
Vmn2r50	A	T	7: 9,786,990 (GRCm39)	L39*	probably null	Het
Vps4b	A	G	1: 106,707,835 (GRCm39)	V216A	possibly damaging	Het
Zfp217	T	C	2: 169,956,790 (GRCm39)	N736S	possibly damaging	Het
Zfp985	A	G	4: 147,665,742 (GRCm39)	E25G	probably damaging	Het
Zfr	C	T	15: 12,154,628 (GRCm39)	R604*	probably null	Het
Zscan18	A	G	7: 12,505,657 (GRCm39)	S577P	possibly damaging	Het

Other mutations in Or5b97

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00944:Or5b97	APN	19	12,878,719 (GRCm39)	missense	probably benign	0.40
IGL01704:Or5b97	APN	19	12,879,103 (GRCm39)	missense	probably benign	0.01
IGL01767:Or5b97	APN	19	12,879,112 (GRCm39)	missense	probably benign	0.12
IGL01969:Or5b97	APN	19	12,878,416 (GRCm39)	missense	possibly damaging	0.69
IGL02435:Or5b97	APN	19	12,878,391 (GRCm39)	missense	probably damaging	1.00
IGL02666:Or5b97	APN	19	12,878,221 (GRCm39)	missense	probably benign
IGL03034:Or5b97	APN	19	12,879,121 (GRCm39)	missense	possibly damaging	0.94
IGL03221:Or5b97	APN	19	12,878,905 (GRCm39)	missense	probably damaging	1.00
R0315:Or5b97	UTSW	19	12,878,598 (GRCm39)	missense	possibly damaging	0.66
R0550:Or5b97	UTSW	19	12,879,164 (GRCm39)	splice site	probably null
R0729:Or5b97	UTSW	19	12,878,259 (GRCm39)	missense	probably damaging	0.97
R1381:Or5b97	UTSW	19	12,878,320 (GRCm39)	missense	probably benign	0.00
R1669:Or5b97	UTSW	19	12,878,652 (GRCm39)	missense	possibly damaging	0.79
R1775:Or5b97	UTSW	19	12,878,599 (GRCm39)	missense	probably benign	0.02
R1918:Or5b97	UTSW	19	12,878,215 (GRCm39)	makesense	probably null
R2377:Or5b97	UTSW	19	12,878,217 (GRCm39)	missense	possibly damaging	0.45
R2406:Or5b97	UTSW	19	12,878,991 (GRCm39)	missense	probably benign	0.11
R2471:Or5b97	UTSW	19	12,878,679 (GRCm39)	missense	probably benign	0.00
R2484:Or5b97	UTSW	19	12,879,005 (GRCm39)	missense	probably benign	0.06
R2656:Or5b97	UTSW	19	12,879,030 (GRCm39)	missense	probably benign	0.37
R3888:Or5b97	UTSW	19	12,878,497 (GRCm39)	missense	probably benign	0.00
R4250:Or5b97	UTSW	19	12,878,368 (GRCm39)	missense	probably benign	0.09
R4545:Or5b97	UTSW	19	12,878,632 (GRCm39)	nonsense	probably null
R4895:Or5b97	UTSW	19	12,878,251 (GRCm39)	missense	probably damaging	1.00
R4956:Or5b97	UTSW	19	12,878,963 (GRCm39)	missense	probably damaging	0.99
R4991:Or5b97	UTSW	19	12,878,815 (GRCm39)	missense	probably damaging	0.98
R5044:Or5b97	UTSW	19	12,878,365 (GRCm39)	missense	probably damaging	1.00
R5165:Or5b97	UTSW	19	12,878,564 (GRCm39)	missense	probably benign	0.00
R6025:Or5b97	UTSW	19	12,879,034 (GRCm39)	missense	probably benign	0.10
R6135:Or5b97	UTSW	19	12,878,803 (GRCm39)	missense	probably damaging	0.97
R6459:Or5b97	UTSW	19	12,878,369 (GRCm39)	missense	possibly damaging	0.94
R6733:Or5b97	UTSW	19	12,878,605 (GRCm39)	missense	probably damaging	1.00
R6789:Or5b97	UTSW	19	12,878,653 (GRCm39)	missense	probably benign	0.21
R6923:Or5b97	UTSW	19	12,878,676 (GRCm39)	missense	probably benign	0.04
R7310:Or5b97	UTSW	19	12,878,637 (GRCm39)	missense	probably damaging	1.00
R8552:Or5b97	UTSW	19	12,879,096 (GRCm39)	missense	probably damaging	0.98
R8699:Or5b97	UTSW	19	12,878,828 (GRCm39)	missense	possibly damaging	0.59
R8735:Or5b97	UTSW	19	12,878,274 (GRCm39)	missense	possibly damaging	0.85
R8955:Or5b97	UTSW	19	12,878,578 (GRCm39)	missense	probably benign	0.01
R9626:Or5b97	UTSW	19	12,878,600 (GRCm39)	missense	possibly damaging	0.88
R9694:Or5b97	UTSW	19	12,879,021 (GRCm39)	missense	probably damaging	0.97

Predicted Primers

PCR Primer
(F):5'- TGTCCATGGAATGATTGGAGC -3'
(R):5'- GTAAGCCCCTACACTATGCC -3'

Sequencing Primer
(F):5'- ATTGGAGCTGGGCTGTAAATAC -3'
(R):5'- TGTATACATGGCTTATCACTGGC -3'

Posted On

2022-09-12