Mutagenetix > Incidental Mutation

Incidental Mutation 'R0109:Or5b94'

64229

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

038395-MU

Accession Numbers

Essential gene?

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

Stock #

R0109 (G1)

Quality Score

129

Status

Not validated

Chromosome

Chromosomal Location

12651543-12652607 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 12652224 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Leucine at position 218 (F218L)

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: F218L

PolyPhen 2 Score 0.023 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000050632
Gene: ENSMUSG00000044441
AA Change: F218L

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: F218L

PolyPhen 2 Score 0.023 (Sensitivity: 0.95; Specificity: 0.81)

Predicted Effect

probably benign
Transcript: ENSMUST00000208494
AA Change: F218L

PolyPhen 2 Score 0.023 (Sensitivity: 0.95; Specificity: 0.81)

Predicted Effect

probably benign
Transcript: ENSMUST00000208657
AA Change: F218L

PolyPhen 2 Score 0.023 (Sensitivity: 0.95; Specificity: 0.81)

Predicted Effect

probably benign
Transcript: ENSMUST00000213486

Predicted Effect

probably benign
Transcript: ENSMUST00000215134

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.9%
20x: 93.6%

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: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca14	A	T	7: 119,917,985 (GRCm39)	K1496*	probably null	Het
Anapc1	C	A	2: 128,476,613 (GRCm39)	R1335L	probably damaging	Het
Arhgef10l	A	T	4: 140,305,605 (GRCm39)	S203T	probably benign	Het
Astn1	C	T	1: 158,491,674 (GRCm39)	T41I	possibly damaging	Het
Avil	A	G	10: 126,849,513 (GRCm39)	N603S	probably benign	Het
Brca1	T	C	11: 101,421,916 (GRCm39)	D149G	possibly damaging	Het
Col19a1	A	C	1: 24,598,849 (GRCm39)		probably null	Het
Cps1	T	C	1: 67,268,577 (GRCm39)	V1435A	possibly damaging	Het
Cyp2j6	A	T	4: 96,406,394 (GRCm39)	I459N	probably damaging	Het
Cyth1	T	C	11: 118,073,132 (GRCm39)	E242G	probably damaging	Het
Dclk3	T	G	9: 111,296,738 (GRCm39)	L94R	possibly damaging	Het
Dsg3	T	C	18: 20,673,191 (GRCm39)	V954A	probably damaging	Het
Dync2h1	T	A	9: 7,111,487 (GRCm39)	D309V	probably damaging	Het
Efhd2	A	G	4: 141,601,878 (GRCm39)	F101L	probably benign	Het
Fgd5	T	A	6: 91,965,216 (GRCm39)	M325K	possibly damaging	Het
Fras1	T	C	5: 96,857,936 (GRCm39)	S2077P	probably benign	Het
Frmpd1	A	T	4: 45,279,340 (GRCm39)	E688D	probably benign	Het
Hspg2	T	C	4: 137,289,512 (GRCm39)	V3824A	probably benign	Het
Kctd16	A	G	18: 40,392,204 (GRCm39)	E264G	probably benign	Het
Mapk15	A	T	15: 75,867,926 (GRCm39)	K153*	probably null	Het
Miox	G	A	15: 89,219,784 (GRCm39)	V91I	probably benign	Het
Nfyb	G	A	10: 82,590,836 (GRCm39)	A65V	possibly damaging	Het
Or4a69	A	G	2: 89,313,147 (GRCm39)	F111L	probably benign	Het
Or52d1	T	C	7: 103,755,812 (GRCm39)	S109P	probably damaging	Het
Parp9	T	C	16: 35,768,711 (GRCm39)	I64T	probably damaging	Het
Pfkfb4	T	C	9: 108,827,957 (GRCm39)	V43A	probably benign	Het
Pgap1	A	T	1: 54,533,984 (GRCm39)	V643E	probably damaging	Het
Pip5k1b	T	A	19: 24,356,411 (GRCm39)	M176L	probably benign	Het
Ppfia4	A	T	1: 134,251,955 (GRCm39)		probably null	Het
Prdx2	G	A	8: 85,696,880 (GRCm39)	G4S	probably benign	Het
Rin3	A	G	12: 102,279,340 (GRCm39)	I50V	possibly damaging	Het
Rtl1	G	A	12: 109,561,841 (GRCm39)		probably benign	Het
Sgsm3	G	C	15: 80,893,667 (GRCm39)	D434H	probably damaging	Het
Shank2	T	C	7: 143,964,314 (GRCm39)	S634P	possibly damaging	Het
Sik2	A	G	9: 50,810,775 (GRCm39)	M447T	possibly damaging	Het
Sla2	A	G	2: 156,725,507 (GRCm39)		probably null	Het
Spata16	T	A	3: 26,967,416 (GRCm39)	F389I	probably damaging	Het
Srebf1	G	A	11: 60,092,630 (GRCm39)	A793V	probably benign	Het
Tmed11	T	A	5: 108,925,278 (GRCm39)	D178V	probably damaging	Het
Traf7	A	G	17: 24,732,900 (GRCm39)	F110L	probably benign	Het
Ttn	T	A	2: 76,555,908 (GRCm39)	I30366F	probably damaging	Het
Ubqlnl	C	T	7: 103,799,399 (GRCm39)	V33M	probably damaging	Het
Vmn1r194	A	G	13: 22,429,217 (GRCm39)	Y278C	probably damaging	Het
Vmn2r100	C	A	17: 19,742,382 (GRCm39)	P252Q	possibly damaging	Het
Vmn2r114	A	T	17: 23,529,549 (GRCm39)	Y184*	probably null	Het
Vmn2r53	C	T	7: 12,315,993 (GRCm39)	A609T	probably damaging	Het
Vps13b	A	G	15: 35,572,265 (GRCm39)	T961A	probably benign	Het
Xirp2	T	A	2: 67,349,622 (GRCm39)	N3272K	probably damaging	Het
Zfp217	C	T	2: 169,957,382 (GRCm39)	A539T	probably benign	Het
Zfp454	T	A	11: 50,774,602 (GRCm39)	T24S	possibly damaging	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
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
R6406:Or5b94	UTSW	19	12,652,184 (GRCm39)	missense	probably benign	0.21
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'- AATTCCTCCATCCACACTGGGGAC -3'
(R):5'- TCCACTTGACATCAATGTGACCTGAC -3'

Sequencing Primer
(F):5'- GGGGACACATTCAGGCTTTC -3'
(R):5'- GGAGTTGCGTTACAATACCATAC -3'

Posted On

2013-08-06