Mutagenetix > Incidental Mutation

Incidental Mutation 'R6406:Or5b94'

516328

Institutional Source

Beutler Lab

Gene Symbol

Or5b94

Ensembl Gene

ENSMUSG00000044441

Gene Name

olfactory receptor family 5 subfamily B member 94

Synonyms

Olfr1442, GA_x6K02T2RE5P-3000589-3001527, MOR202-9

MMRRC Submission

044551-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.051) question?

Stock #

R6406 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

12651543-12652607 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 12652184 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 205 (I205T)

Ref Sequence

ENSEMBL: ENSMUSP00000146650 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000049724] [ENSMUST00000057924] [ENSMUST00000207341] [ENSMUST00000208494] [ENSMUST00000208657] [ENSMUST00000213486] [ENSMUST00000215134]

AlphaFold

Q0VEV7

Predicted Effect

probably benign
Transcript: ENSMUST00000049724

SMART Domains

Protein: ENSMUSP00000059886
Gene: ENSMUSG00000045030

Domain	Start	End	E-Value	Type
Pfam:7tm_4	29	306	2.4e-50	PFAM
Pfam:7TM_GPCR_Srsx	33	303	1.5e-6	PFAM
Pfam:7tm_1	39	288	8.6e-22	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000057924
AA Change: I205T

PolyPhen 2 Score 0.206 (Sensitivity: 0.92; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000050632
Gene: ENSMUSG00000044441
AA Change: I205T

Domain	Start	End	E-Value	Type
Pfam:7tm_4	29	306	7.9e-49	PFAM
Pfam:7TM_GPCR_Srsx	33	303	1.6e-6	PFAM
Pfam:7tm_1	39	288	1.6e-19	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000207341
AA Change: I205T

PolyPhen 2 Score 0.206 (Sensitivity: 0.92; Specificity: 0.88)

Predicted Effect

probably benign
Transcript: ENSMUST00000208494
AA Change: I205T

PolyPhen 2 Score 0.206 (Sensitivity: 0.92; Specificity: 0.88)

Predicted Effect

probably benign
Transcript: ENSMUST00000208657
AA Change: I205T

PolyPhen 2 Score 0.206 (Sensitivity: 0.92; Specificity: 0.88)

Predicted Effect

probably benign
Transcript: ENSMUST00000213486

Predicted Effect

probably benign
Transcript: ENSMUST00000215134

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.3%

Validation Efficiency

96% (48/50)

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: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aars2	C	T	17: 45,817,865 (GRCm39)	P29L	probably benign	Het
Acsm1	A	G	7: 119,261,484 (GRCm39)	N567S	probably benign	Het
Ahi1	T	G	10: 20,852,948 (GRCm39)	N505K	probably damaging	Het
Ank2	T	A	3: 126,825,874 (GRCm39)	D356V	probably damaging	Het
Bhlhe40	TG	TGG	6: 108,641,818 (GRCm39)	254	probably null	Het
Bpifb6	C	A	2: 153,746,457 (GRCm39)	T117K	possibly damaging	Het
C2cd6	T	C	1: 59,097,835 (GRCm39)	E418G	possibly damaging	Het
Cbx1	A	T	11: 96,692,364 (GRCm39)	K84*	probably null	Het
Cr2	A	G	1: 194,852,079 (GRCm39)	L90P	probably damaging	Het
Dclk1	A	G	3: 55,387,827 (GRCm39)	D91G	probably damaging	Het
Dock1	C	A	7: 134,747,215 (GRCm39)	Q1509K	probably benign	Het
Fzd1	T	G	5: 4,806,089 (GRCm39)	T498P	probably damaging	Het
Galnt12	A	G	4: 47,122,534 (GRCm39)	N271S	probably benign	Het
Gm12888	A	G	4: 121,176,654 (GRCm39)	I49T	possibly damaging	Het
Gria4	A	T	9: 4,427,077 (GRCm39)	W788R	probably damaging	Het
Ilf3	C	T	9: 21,307,540 (GRCm39)	A379V	probably damaging	Het
Islr2	A	G	9: 58,107,263 (GRCm39)	V43A	probably benign	Het
Jag1	T	A	2: 136,929,563 (GRCm39)	N782I	probably damaging	Het
Klhl8	T	A	5: 104,010,981 (GRCm39)	I539F	possibly damaging	Het
Lama5	A	T	2: 179,839,257 (GRCm39)	C750*	probably null	Het
Lrrc37a	T	A	11: 103,388,361 (GRCm39)	T2355S	unknown	Het
Lrrc8a	A	G	2: 30,147,103 (GRCm39)	H639R	possibly damaging	Het
Map1a	A	T	2: 121,131,224 (GRCm39)	D442V	probably damaging	Het
Mier3	T	C	13: 111,846,343 (GRCm39)		probably null	Het
Msantd1	C	A	5: 35,080,665 (GRCm39)		probably null	Het
Ncapd2	C	A	6: 125,150,841 (GRCm39)	A785S	probably benign	Het
Ncbp2	CTCGTCTGG	C	16: 31,775,159 (GRCm39)		probably null	Het
Ncbp2	CGTCTGGATG	CG	16: 31,775,161 (GRCm39)		probably null	Het
Ndst4	T	C	3: 125,232,150 (GRCm39)	S240P	probably benign	Het
Nek9	T	C	12: 85,385,946 (GRCm39)	D17G	probably damaging	Het
Nkx6-1	C	T	5: 101,811,677 (GRCm39)	A142T	unknown	Het
Nt5dc1	T	C	10: 34,200,404 (GRCm39)	H205R	probably benign	Het
Or9g3	T	A	2: 85,590,651 (GRCm39)	Q23L	possibly damaging	Het
Pafah1b1	A	G	11: 74,573,098 (GRCm39)	M322T	probably benign	Het
Parp2	A	G	14: 51,056,934 (GRCm39)	N353D	probably benign	Het
Pdcd6ip	T	C	9: 113,503,412 (GRCm39)	N452S	possibly damaging	Het
Pkd1l2	A	G	8: 117,762,586 (GRCm39)	V1397A	probably damaging	Het
Prkdc	T	A	16: 15,535,665 (GRCm39)	L1675Q	probably damaging	Het
Ptprt	T	C	2: 161,395,703 (GRCm39)	I1157V	probably damaging	Het
Rsf1	CGGCGGCGG	CGGCGGCGGGGGCGGCGG	7: 97,229,133 (GRCm39)		probably benign	Het
Sele	G	T	1: 163,878,312 (GRCm39)	C217F	probably damaging	Het
Spats1	T	A	17: 45,768,191 (GRCm39)	H125L	probably damaging	Het
Stard3	T	C	11: 98,269,595 (GRCm39)	V330A	probably benign	Het
Synj2	T	A	17: 6,069,846 (GRCm39)		probably benign	Het
Thoc1	T	A	18: 9,977,963 (GRCm39)	F301L	probably damaging	Het
Thumpd3	G	A	6: 113,032,924 (GRCm39)	E221K	probably damaging	Het
Trim61	T	C	8: 65,466,377 (GRCm39)	T295A	possibly damaging	Het
Trp53bp1	T	C	2: 121,101,093 (GRCm39)	Q35R	probably damaging	Het
Tsnaxip1	C	T	8: 106,570,615 (GRCm39)	T578I	probably benign	Het

Other mutations in Or5b94

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00336:Or5b94	APN	19	12,651,924 (GRCm39)	nonsense	probably null
IGL00969:Or5b94	APN	19	12,651,605 (GRCm39)	missense	probably damaging	1.00
IGL01788:Or5b94	APN	19	12,652,442 (GRCm39)	missense	probably damaging	0.97
IGL02081:Or5b94	APN	19	12,652,180 (GRCm39)	missense	probably benign
IGL02335:Or5b94	APN	19	12,651,602 (GRCm39)	missense	probably damaging	0.97
IGL02383:Or5b94	APN	19	12,651,899 (GRCm39)	missense	probably benign	0.01
IGL02389:Or5b94	APN	19	12,651,899 (GRCm39)	missense	probably benign	0.00
IGL02484:Or5b94	APN	19	12,652,223 (GRCm39)	missense	possibly damaging	0.56
IGL02682:Or5b94	APN	19	12,652,033 (GRCm39)	missense	probably damaging	0.98
IGL03136:Or5b94	APN	19	12,652,331 (GRCm39)	missense	probably damaging	0.99
R0109:Or5b94	UTSW	19	12,652,224 (GRCm39)	missense	probably benign	0.02
R0109:Or5b94	UTSW	19	12,652,224 (GRCm39)	missense	probably benign	0.02
R0112:Or5b94	UTSW	19	12,652,121 (GRCm39)	missense	probably benign
R4005:Or5b94	UTSW	19	12,652,210 (GRCm39)	missense	probably benign	0.05
R4346:Or5b94	UTSW	19	12,651,592 (GRCm39)	missense	probably benign	0.03
R4611:Or5b94	UTSW	19	12,652,318 (GRCm39)	missense	probably damaging	1.00
R5858:Or5b94	UTSW	19	12,651,743 (GRCm39)	missense	probably damaging	1.00
R5944:Or5b94	UTSW	19	12,652,283 (GRCm39)	missense	probably damaging	1.00
R6923:Or5b94	UTSW	19	12,652,409 (GRCm39)	missense	possibly damaging	0.94
R7710:Or5b94	UTSW	19	12,652,340 (GRCm39)	missense	probably damaging	1.00
R8699:Or5b94	UTSW	19	12,652,246 (GRCm39)	missense	probably benign	0.21
Z1176:Or5b94	UTSW	19	12,651,674 (GRCm39)	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- ACTGGTGGTTTCCTGAATTCC -3'
(R):5'- GGATGACCATGGTGTAGAACAC -3'

Sequencing Primer
(F):5'- GAATTCCTCCATCCACACTGGGG -3'
(R):5'- CACAGACACGGTTTTATCAGTG -3'

Posted On

2018-05-04