Mutagenetix > Incidental Mutation

Incidental Mutation 'R7710:Or5b94'

594575

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

Accession Numbers

Essential gene?

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

Stock #

R7710 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

12651543-12652607 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 12652340 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Serine at position 257 (Y257S)

Ref Sequence

ENSEMBL: ENSMUSP00000147051 (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 damaging
Transcript: ENSMUST00000057924
AA Change: Y257S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000050632
Gene: ENSMUSG00000044441
AA Change: Y257S

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 damaging
Transcript: ENSMUST00000207341
AA Change: Y257S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

Predicted Effect

probably damaging
Transcript: ENSMUST00000208494
AA Change: Y257S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

Predicted Effect

probably damaging
Transcript: ENSMUST00000208657
AA Change: Y257S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

Predicted Effect

probably benign
Transcript: ENSMUST00000213486

Predicted Effect

probably benign
Transcript: ENSMUST00000215134

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.2%

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: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamtsl1	G	A	4: 86,150,810 (GRCm39)	E151K		Het
Ap3b1	T	C	13: 94,587,581 (GRCm39)	S452P	probably damaging	Het
Cacna2d4	A	G	6: 119,251,200 (GRCm39)	I463V	probably benign	Het
Calhm4	A	T	10: 33,920,045 (GRCm39)	M74K	possibly damaging	Het
Ccdc142	T	C	6: 83,078,677 (GRCm39)	S5P	probably benign	Het
Cd300ld	C	T	11: 114,875,038 (GRCm39)	V199M	probably damaging	Het
Cep162	T	C	9: 87,114,172 (GRCm39)	Y300C	probably damaging	Het
Ces2h	C	T	8: 105,727,497 (GRCm39)	Q5*	probably null	Het
Col9a3	C	T	2: 180,251,158 (GRCm39)	L310F	probably damaging	Het
Copa	A	G	1: 171,937,411 (GRCm39)	D454G	possibly damaging	Het
Ctnnbip1	A	C	4: 149,630,277 (GRCm39)	M29L	probably benign	Het
Ctnnbl1	A	G	2: 157,616,491 (GRCm39)	D64G	probably benign	Het
Dcxr	T	A	11: 120,617,908 (GRCm39)	T23S	probably benign	Het
Dennd1b	T	A	1: 138,990,670 (GRCm39)	H211Q	probably damaging	Het
Ercc8	G	A	13: 108,320,397 (GRCm39)	A328T	probably benign	Het
Fam217a	T	C	13: 35,095,111 (GRCm39)	D216G	possibly damaging	Het
Fat2	T	A	11: 55,201,589 (GRCm39)	Y495F	probably benign	Het
Fbxw13	G	A	9: 109,024,968 (GRCm39)	S15F	probably damaging	Het
Fras1	T	A	5: 96,792,962 (GRCm39)	C964*	probably null	Het
Fshr	T	A	17: 89,292,683 (GRCm39)	H665L	probably benign	Het
Gm10447	A	T	11: 53,347,437 (GRCm39)	C31S	unknown	Het
Gm13272	A	T	4: 88,698,586 (GRCm39)	Q167L	probably benign	Het
Gtpbp2	T	C	17: 46,478,713 (GRCm39)	I510T	possibly damaging	Het
Hps6	G	A	19: 45,993,007 (GRCm39)	A315T	probably benign	Het
Igfbp6	A	C	15: 102,056,285 (GRCm39)	T115P	probably damaging	Het
Ikzf4	A	G	10: 128,468,610 (GRCm39)	V623A	possibly damaging	Het
Il11ra1	T	C	4: 41,764,846 (GRCm39)	V100A	probably benign	Het
Ints1	T	C	5: 139,756,840 (GRCm39)	T493A	probably benign	Het
Itgax	C	T	7: 127,735,028 (GRCm39)	T453I	probably benign	Het
Kras	T	C	6: 145,166,354 (GRCm39)	T183A	probably benign	Het
Lhcgr	T	C	17: 89,050,210 (GRCm39)	T439A	probably damaging	Het
Lrrn4	T	C	2: 132,721,451 (GRCm39)	H122R	probably benign	Het
Muc2	A	T	7: 141,287,452 (GRCm39)	R210S	possibly damaging	Het
Myh7	C	G	14: 55,226,258 (GRCm39)	D461H	probably damaging	Het
Myo18b	T	C	5: 113,022,891 (GRCm39)	D167G	unknown	Het
Nedd8	G	A	14: 55,909,446 (GRCm39)		probably benign	Het
Pars2	T	A	4: 106,511,276 (GRCm39)	Y353N	probably damaging	Het
Pbxip1	T	A	3: 89,355,408 (GRCm39)	D642E	probably damaging	Het
Pcdhb10	A	T	18: 37,546,654 (GRCm39)	R577*	probably null	Het
Pcna-ps2	T	A	19: 9,261,489 (GRCm39)	Y249*	probably null	Het
Peg10	GC	GCTCC	6: 4,756,452 (GRCm39)		probably benign	Het
Pla2g6	A	T	15: 79,171,358 (GRCm39)	V744E	probably damaging	Het
Ppfibp1	A	G	6: 146,897,903 (GRCm39)	I207V	probably benign	Het
Prr11	T	C	11: 86,994,433 (GRCm39)	D71G	probably benign	Het
Rnf150	A	C	8: 83,590,781 (GRCm39)	Y48S	probably damaging	Het
Rsf1	G	A	7: 97,331,041 (GRCm39)	G1237D		Het
Rusc2	C	T	4: 43,416,119 (GRCm39)	T475I	probably benign	Het
Scgb1b20	T	A	7: 33,072,867 (GRCm39)	I25N	probably damaging	Het
Sdr39u1	T	C	14: 56,137,116 (GRCm39)	N65S	probably benign	Het
Sh3gl3	T	C	7: 81,933,294 (GRCm39)	V219A	possibly damaging	Het
Shcbp1	A	G	8: 4,814,965 (GRCm39)	F171S	probably benign	Het
Shq1	A	G	6: 100,648,006 (GRCm39)	F6S	probably damaging	Het
Slc12a4	C	T	8: 106,672,203 (GRCm39)	R868H	possibly damaging	Het
Smg6	T	C	11: 74,821,445 (GRCm39)	V572A	probably benign	Het
Syn3	A	G	10: 86,243,534 (GRCm39)	V135A	probably damaging	Het
Tars3	A	T	7: 65,314,717 (GRCm39)	D425V	probably benign	Het
Tmem253	A	T	14: 52,254,608 (GRCm39)	Q21L	possibly damaging	Het
Trpm3	G	T	19: 22,896,154 (GRCm39)	R997L	probably damaging	Het
Ubr5	G	A	15: 37,980,076 (GRCm39)	A2434V	probably null	Het
Ugt1a9	A	G	1: 87,998,831 (GRCm39)	T94A	probably benign	Het
Vmn1r62	A	G	7: 5,678,182 (GRCm39)		probably benign	Het
Vmn2r61	T	C	7: 41,916,472 (GRCm39)	C362R	probably damaging	Het
Zfp354c	TCACACTCGGCACA	TCACA	11: 50,706,067 (GRCm39)		probably benign	Het
Zfp94	T	C	7: 24,003,107 (GRCm39)	K112E	probably benign	Het
Zfp954	A	T	7: 7,120,889 (GRCm39)	V47E	probably 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
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
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'- GGAGCAGGCTTCATTATCTGTTC -3'
(R):5'- TCAATGTGACCTGACTCTAGGTC -3'

Sequencing Primer
(F):5'- GCAGGCTTCATTATCTGTTCTGCAC -3'
(R):5'- GACTCTAGGTCACTAGGTACCTAAG -3'

Posted On

2019-11-12