Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00229:Or5b117'

2054

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Or5b117

Ensembl Gene

ENSMUSG00000095189

Gene Name

olfactory receptor family 5 subfamily B member 117

Synonyms

Olfr1472, GA_x6K02T2RE5P-3787124-3786180, MOR202-16

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.143) question?

Stock #

IGL00229

Quality Score

Status

Chromosome

Chromosomal Location

13430935-13431879 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 13431204 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Valine at position 226 (M226V)

Ref Sequence

ENSEMBL: ENSMUSP00000093915 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000077501] [ENSMUST00000096201]

AlphaFold

Q7TQQ9

Predicted Effect

possibly damaging
Transcript: ENSMUST00000077501
AA Change: M226V

PolyPhen 2 Score 0.458 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000076707
Gene: ENSMUSG00000095189
AA Change: M226V

Domain	Start	End	E-Value	Type
Pfam:7tm_4	29	306	2.4e-51	PFAM
Pfam:7TM_GPCR_Srsx	33	303	5.2e-8	PFAM
Pfam:7tm_1	39	288	6.9e-20	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000096201
AA Change: M226V

PolyPhen 2 Score 0.458 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000093915
Gene: ENSMUSG00000095189
AA Change: M226V

Domain	Start	End	E-Value	Type
Pfam:7tm_4	30	306	3.9e-53	PFAM
Pfam:7TM_GPCR_Srsx	34	304	2.6e-6	PFAM
Pfam:7tm_1	40	289	1.2e-16	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000213561

Coding Region Coverage

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: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca4	A	G	3: 121,964,603 (GRCm39)	T929A	probably damaging	Het
Adam6b	G	A	12: 113,455,013 (GRCm39)	R610H	probably damaging	Het
Adamts12	T	A	15: 11,311,685 (GRCm39)	M1314K	probably benign	Het
Alg6	T	A	4: 99,641,291 (GRCm39)	F152I	probably damaging	Het
Aopep	A	G	13: 63,347,314 (GRCm39)		probably benign	Het
Arid5b	A	G	10: 67,964,805 (GRCm39)	S289P	probably damaging	Het
Axin1	T	C	17: 26,413,046 (GRCm39)	F780L	probably damaging	Het
C9	C	T	15: 6,512,712 (GRCm39)	S278L	possibly damaging	Het
Calr4	A	T	4: 109,101,312 (GRCm39)	I65F	probably damaging	Het
Cdh23	A	G	10: 60,359,327 (GRCm39)	V260A	probably benign	Het
Ddx25	T	C	9: 35,454,891 (GRCm39)		probably benign	Het
Dppa4	A	G	16: 48,111,446 (GRCm39)	T92A	possibly damaging	Het
Ercc5	T	C	1: 44,203,058 (GRCm39)	Y232H	probably damaging	Het
Exoc4	A	G	6: 33,895,334 (GRCm39)		probably null	Het
Fam149a	A	G	8: 45,804,823 (GRCm39)	V253A	probably damaging	Het
Fam209	C	T	2: 172,316,102 (GRCm39)	T159I	probably damaging	Het
Gcfc2	A	T	6: 81,912,996 (GRCm39)	N265I	probably damaging	Het
Glud1	T	C	14: 34,058,087 (GRCm39)	V366A	probably benign	Het
Hdac10	T	C	15: 89,012,645 (GRCm39)	T3A	probably damaging	Het
Ifnar1	T	C	16: 91,286,670 (GRCm39)	S54P	probably damaging	Het
Itpr2	T	C	6: 146,045,683 (GRCm39)	Y2561C	probably damaging	Het
Klhl30	A	G	1: 91,281,879 (GRCm39)	E160G	possibly damaging	Het
Kmt2d	A	T	15: 98,760,214 (GRCm39)	S1015T	unknown	Het
Lactb2	A	G	1: 13,730,598 (GRCm39)	M26T	probably damaging	Het
Lactbl1	A	T	4: 136,358,362 (GRCm39)	D111V	probably damaging	Het
Lig4	T	C	8: 10,022,775 (GRCm39)	Y335C	probably damaging	Het
Lrrc8e	T	A	8: 4,285,921 (GRCm39)	D715E	probably benign	Het
Med6	A	T	12: 81,626,348 (GRCm39)	V142D	possibly damaging	Het
Men1	G	A	19: 6,387,237 (GRCm39)		probably null	Het
Mettl13	A	G	1: 162,363,434 (GRCm39)	V600A	possibly damaging	Het
Mpdz	A	T	4: 81,228,461 (GRCm39)	C1314*	probably null	Het
Nbeal2	A	G	9: 110,464,937 (GRCm39)	V1009A	probably damaging	Het
Nmur2	A	G	11: 55,931,603 (GRCm39)	L36P	probably damaging	Het
Nudt2	T	A	4: 41,480,474 (GRCm39)	L119Q	probably damaging	Het
Osbpl3	C	T	6: 50,300,048 (GRCm39)	E519K	probably damaging	Het
Pak6	A	T	2: 118,520,326 (GRCm39)	T106S	possibly damaging	Het
Pggt1b	T	G	18: 46,413,786 (GRCm39)	Q34P	probably benign	Het
Phactr4	T	C	4: 132,098,303 (GRCm39)	T322A	possibly damaging	Het
Plekhj1	T	C	10: 80,632,436 (GRCm39)		probably null	Het
Pnpt1	T	C	11: 29,104,217 (GRCm39)		probably null	Het
Pramel32	A	G	4: 88,547,290 (GRCm39)	I214T	probably damaging	Het
Prr14l	T	C	5: 32,988,020 (GRCm39)	I492V	probably benign	Het
Ranbp2	C	A	10: 58,313,078 (GRCm39)	A1266E	probably damaging	Het
Riok3	G	A	18: 12,270,077 (GRCm39)	D140N	probably damaging	Het
Rsph4a	G	A	10: 33,790,339 (GRCm39)	E643K	probably damaging	Het
Scara3	T	G	14: 66,170,570 (GRCm39)	E103A	probably benign	Het
Sgk3	T	C	1: 9,938,609 (GRCm39)	V33A	probably damaging	Het
Slc38a4	A	G	15: 96,897,375 (GRCm39)	F480S	probably damaging	Het
Slc44a1	G	A	4: 53,543,571 (GRCm39)	V372M	probably damaging	Het
Slc9a2	A	G	1: 40,806,897 (GRCm39)	Y728C	probably benign	Het
Sox4	C	A	13: 29,136,956 (GRCm39)	G17W	probably damaging	Het
Spidr	A	T	16: 15,713,442 (GRCm39)	L847Q	probably damaging	Het
Sptb	A	G	12: 76,667,527 (GRCm39)	S857P	probably benign	Het
Syde1	A	G	10: 78,421,643 (GRCm39)	V636A	probably damaging	Het
Syna	A	G	5: 134,588,571 (GRCm39)	L126P	possibly damaging	Het
Taar2	A	G	10: 23,817,266 (GRCm39)	T269A	possibly damaging	Het
Tapbp	C	T	17: 34,144,678 (GRCm39)	T258I	probably damaging	Het
Tcf20	T	A	15: 82,741,343 (GRCm39)	Q36L	possibly damaging	Het
Tmem131l	A	T	3: 83,849,807 (GRCm39)	M260K	probably damaging	Het
Tnc	T	A	4: 63,935,061 (GRCm39)		probably benign	Het
Ugp2	T	A	11: 21,304,345 (GRCm39)	E27D	probably benign	Het
Vps35l	T	A	7: 118,403,414 (GRCm39)		probably benign	Het
Wdr27	A	T	17: 15,148,572 (GRCm39)	C140*	probably null	Het
Wnt2b	T	C	3: 104,860,449 (GRCm39)	T153A	possibly damaging	Het
Xirp2	A	T	2: 67,343,719 (GRCm39)	T1987S	probably benign	Het
Zfp36l1	C	A	12: 80,157,238 (GRCm39)	G48C	probably damaging	Het
Zfp474	A	T	18: 52,771,565 (GRCm39)	I73F	possibly damaging	Het
Zfp790	T	A	7: 29,527,988 (GRCm39)	F224L	probably benign	Het

Other mutations in Or5b117

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01755:Or5b117	APN	19	13,431,179 (GRCm39)	missense	probably damaging	1.00
IGL01885:Or5b117	APN	19	13,431,449 (GRCm39)	missense	probably benign	0.00
IGL02366:Or5b117	APN	19	13,431,491 (GRCm39)	missense	probably damaging	1.00
IGL03074:Or5b117	APN	19	13,431,417 (GRCm39)	missense	probably damaging	0.98
R0592:Or5b117	UTSW	19	13,431,069 (GRCm39)	missense	probably benign	0.00
R1085:Or5b117	UTSW	19	13,431,594 (GRCm39)	missense	possibly damaging	0.75
R4207:Or5b117	UTSW	19	13,431,835 (GRCm39)	missense	probably benign	0.15
R4856:Or5b117	UTSW	19	13,431,885 (GRCm39)	splice site	probably null
R4886:Or5b117	UTSW	19	13,431,885 (GRCm39)	splice site	probably null
R5061:Or5b117	UTSW	19	13,431,349 (GRCm39)	nonsense	probably null
R5167:Or5b117	UTSW	19	13,431,741 (GRCm39)	missense	probably damaging	1.00
R5509:Or5b117	UTSW	19	13,431,332 (GRCm39)	missense	probably damaging	1.00
R5586:Or5b117	UTSW	19	13,431,746 (GRCm39)	missense	probably benign	0.02
R5987:Or5b117	UTSW	19	13,431,324 (GRCm39)	missense	possibly damaging	0.57
R6631:Or5b117	UTSW	19	13,431,185 (GRCm39)	missense	probably benign	0.00
R7976:Or5b117	UTSW	19	13,431,563 (GRCm39)	missense	probably benign

Posted On

2011-12-09