Mutagenetix > Incidental Mutation

Incidental Mutation 'R8735:Or5b97'

663017

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

068583-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.063) question?

Stock #

R8735 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

12878213-12879142 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 12878274 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 290 (V290A)

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: V290A

PolyPhen 2 Score 0.846 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000071419
Gene: ENSMUSG00000060303
AA Change: V290A

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: V290A

PolyPhen 2 Score 0.846 (Sensitivity: 0.83; Specificity: 0.93)

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.7%

Validation Efficiency

99% (76/77)

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: 78 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
6430550D23Rik	A	G	2: 155,845,731 (GRCm39)	F9S	unknown	Het
Abhd10	A	G	16: 45,557,997 (GRCm39)	F101L	probably damaging	Het
Acp2	A	G	2: 91,034,651 (GRCm39)	T93A	probably benign	Het
Adamts9	C	T	6: 92,837,048 (GRCm39)		probably benign	Het
Aknad1	T	A	3: 108,682,615 (GRCm39)		probably benign	Het
Ank3	A	T	10: 69,822,785 (GRCm39)	T485S	probably benign	Het
Caly	G	A	7: 139,652,503 (GRCm39)	R82C	probably damaging	Het
Cfhr2	A	G	1: 139,786,343 (GRCm39)	L8P	probably damaging	Het
Cpeb2	T	A	5: 43,438,775 (GRCm39)	L869*	probably null	Het
Cxxc1	A	G	18: 74,350,331 (GRCm39)	K33E	possibly damaging	Het
Cyp17a1	T	C	19: 46,659,533 (GRCm39)		probably null	Het
Cyp4a30b	G	A	4: 115,309,976 (GRCm39)	W59*	probably null	Het
Dennd4b	T	C	3: 90,185,172 (GRCm39)	V1204A	probably damaging	Het
Dpyd	T	A	3: 118,935,565 (GRCm39)	D663E	possibly damaging	Het
Esrrg	A	T	1: 187,933,205 (GRCm39)		probably benign	Het
Exoc2	A	C	13: 31,090,822 (GRCm39)	L261V	probably damaging	Het
Exosc9	T	C	3: 36,609,662 (GRCm39)	L185S	probably damaging	Het
Gcnt3	T	C	9: 69,941,728 (GRCm39)	K280R	probably benign	Het
Ighv1-64	A	T	12: 115,471,217 (GRCm39)	M100K	probably benign	Het
Impdh2	G	A	9: 108,441,978 (GRCm39)		probably null	Het
Itsn2	T	A	12: 4,721,474 (GRCm39)	I1068K	probably damaging	Het
Kif5c	T	C	2: 49,584,783 (GRCm39)	C169R	probably damaging	Het
Kndc1	A	G	7: 139,490,130 (GRCm39)	S211G	probably benign	Het
Lama2	T	A	10: 27,066,530 (GRCm39)	E1117V	probably damaging	Het
Lgals4	C	T	7: 28,540,921 (GRCm39)	R282C	probably damaging	Het
Lsg1	T	A	16: 30,399,865 (GRCm39)		probably null	Het
Mab21l4	C	T	1: 93,082,208 (GRCm39)		probably null	Het
Msh3	A	G	13: 92,411,374 (GRCm39)	S608P	possibly damaging	Het
Mslnl	T	A	17: 25,964,062 (GRCm39)	F464I	probably benign	Het
Mycbp2	T	A	14: 103,460,586 (GRCm39)	K1493N	probably damaging	Het
Myo15a	A	T	11: 60,401,679 (GRCm39)		probably null	Het
Myo1b	A	T	1: 51,794,896 (GRCm39)	F1065I	probably benign	Het
Nf1	A	G	11: 79,345,136 (GRCm39)		probably benign	Het
Nup153	C	A	13: 46,881,027 (GRCm39)		probably benign	Het
Or4f4-ps1	T	A	2: 111,330,497 (GRCm39)	I300K	probably damaging	Het
Osbpl7	A	G	11: 96,943,194 (GRCm39)	T149A	probably benign	Het
Parp1	A	G	1: 180,396,690 (GRCm39)	D31G	probably benign	Het
Pcdha6	T	A	18: 37,101,203 (GRCm39)	V132E	possibly damaging	Het
Pcdhb8	T	A	18: 37,489,975 (GRCm39)	L551Q	possibly damaging	Het
Pcsk9	T	A	4: 106,311,808 (GRCm39)	T190S	probably damaging	Het
Pdgfrb	A	T	18: 61,197,049 (GRCm39)	T162S	probably benign	Het
Pi4ka	C	T	16: 17,136,234 (GRCm39)	R908Q		Het
Pnpla8	A	G	12: 44,330,222 (GRCm39)	E258G	probably benign	Het
Prrc2c	A	T	1: 162,537,127 (GRCm39)	S643T	unknown	Het
Rnf20	T	G	4: 49,655,964 (GRCm39)	I970S	possibly damaging	Het
Robo2	A	T	16: 73,755,247 (GRCm39)	V758D	probably damaging	Het
Robo4	G	A	9: 37,319,577 (GRCm39)	S609N	possibly damaging	Het
Rrbp1	G	A	2: 143,830,920 (GRCm39)	Q416*	probably null	Het
Rsf1	GCG	GCGACGGCGACG	7: 97,229,114 (GRCm39)		probably benign	Het
Ryr2	C	A	13: 11,701,833 (GRCm39)	E2941D	probably damaging	Het
Scd2	G	T	19: 44,289,743 (GRCm39)	C246F	probably benign	Het
Sh3rf1	G	A	8: 61,825,687 (GRCm39)	V561I	probably benign	Het
Slc4a4	T	A	5: 89,280,301 (GRCm39)	D366E	probably damaging	Het
Slfn14	T	G	11: 83,174,715 (GRCm39)	Q92P	probably damaging	Het
Slfn4	A	T	11: 83,077,770 (GRCm39)	Y186F	probably damaging	Het
Smpd4	T	C	16: 17,453,410 (GRCm39)	L309P	possibly damaging	Het
Smyd3	G	T	1: 178,920,482 (GRCm39)	N217K	probably benign	Het
Spen	T	C	4: 141,197,129 (GRCm39)	T3547A	probably benign	Het
Suclg1	A	T	6: 73,253,729 (GRCm39)	I126F	unknown	Het
Tenm4	C	T	7: 96,555,148 (GRCm39)	P2618S	probably benign	Het
Tmprss15	A	T	16: 78,798,702 (GRCm39)	I660N	possibly damaging	Het
Trf	A	T	9: 103,087,723 (GRCm39)	V677D	probably damaging	Het
Trim36	T	C	18: 46,302,452 (GRCm39)	N532S	probably benign	Het
Trim37	T	C	11: 87,037,885 (GRCm39)		probably null	Het
Ttn	T	C	2: 76,570,454 (GRCm39)	N26813S	probably benign	Het
Vmn1r199	T	A	13: 22,567,537 (GRCm39)	V277D	probably damaging	Het
Wdfy3	T	C	5: 102,077,951 (GRCm39)	D873G	probably benign	Het
Wdr27	T	C	17: 15,103,929 (GRCm39)	T726A	probably damaging	Het
Wdr97	T	C	15: 76,240,775 (GRCm39)	Y488H		Het
Wdtc1	A	T	4: 133,031,511 (GRCm39)	C236*	probably null	Het
Wnk4	A	C	11: 101,167,092 (GRCm39)	S1083R	unknown	Het
Wwc1	A	T	11: 35,774,234 (GRCm39)	I342N	probably damaging	Het
Zbtb40	A	G	4: 136,725,957 (GRCm39)	L534P	probably damaging	Het
Zfp62	T	C	11: 49,108,227 (GRCm39)	C773R	probably damaging	Het
Zfp709	T	A	8: 72,643,027 (GRCm39)	I152N	probably benign	Het
Zfp738	T	C	13: 67,819,550 (GRCm39)	Y147C	probably damaging	Het
Zscan18	A	C	7: 12,503,625 (GRCm39)	S645A	probably benign	Het
Zw10	A	G	9: 48,988,861 (GRCm39)	Y709C	probably 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
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
R9631:Or5b97	UTSW	19	12,878,502 (GRCm39)	missense	possibly damaging	0.69
R9694:Or5b97	UTSW	19	12,879,021 (GRCm39)	missense	probably damaging	0.97

Predicted Primers

PCR Primer
(F):5'- ACTAATTTAGTACAGGGAGGAGATCTG -3'
(R):5'- GCAATCATGGCTCTCACTTG -3'

Sequencing Primer
(F):5'- TTAGTACAGGGAGGAGATCTGAGAAG -3'
(R):5'- AGATGCACTCAGCTTCAGG -3'

Posted On

2021-03-08