Mutagenetix > Incidental Mutation

Incidental Mutation 'R4996:Or8k32'

385230

Institutional Source

Beutler Lab

Gene Symbol

Or8k32

Ensembl Gene

ENSMUSG00000075179

Gene Name

olfactory receptor family 8 subfamily K member 32

Synonyms

GA_x6K02T2Q125-48024195-48023254, MOR189-1, Olfr1079

MMRRC Submission

042590-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.070) question?

Stock #

R4996 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

86368310-86369257 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 86368615 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 215 (I215V)

Ref Sequence

ENSEMBL: ENSMUSP00000097467 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000099882] [ENSMUST00000111582] [ENSMUST00000216480]

AlphaFold

Q8VF52

Predicted Effect

probably benign
Transcript: ENSMUST00000099882
AA Change: I215V

PolyPhen 2 Score 0.019 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000097467
Gene: ENSMUSG00000075179
AA Change: I215V

Domain	Start	End	E-Value	Type
Pfam:7TM_GPCR_Srsx	37	175	1.2e-7	PFAM
Pfam:7tm_1	43	292	7.1e-32	PFAM
Pfam:7tm_4	141	285	1.3e-43	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000111582
AA Change: I213V

PolyPhen 2 Score 0.016 (Sensitivity: 0.95; Specificity: 0.79)

SMART Domains

Protein: ENSMUSP00000107208
Gene: ENSMUSG00000075179
AA Change: I213V

Domain	Start	End	E-Value	Type
Pfam:7tm_4	33	308	1.6e-48	PFAM
Pfam:7TM_GPCR_Srsx	37	175	1.2e-7	PFAM
Pfam:7tm_1	43	292	2.4e-20	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000216480
AA Change: I213V

PolyPhen 2 Score 0.016 (Sensitivity: 0.95; Specificity: 0.79)

Coding Region Coverage

1x: 99.1%
3x: 98.3%
10x: 96.1%
20x: 91.5%

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: 77 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930505A04Rik	C	T	11: 30,376,349 (GRCm39)	V173M	probably damaging	Het
Actl11	A	G	9: 107,808,934 (GRCm39)	I1086V	possibly damaging	Het
Adgrv1	T	C	13: 81,726,853 (GRCm39)	S500G	probably benign	Het
Ahcyl1	A	T	3: 107,575,603 (GRCm39)	V394E	probably damaging	Het
Alg9	T	C	9: 50,720,005 (GRCm39)	F494L	probably damaging	Het
Ankrd55	C	A	13: 112,492,622 (GRCm39)	D264E	possibly damaging	Het
Asb14	A	G	14: 26,634,073 (GRCm39)	N426S	possibly damaging	Het
Atm	A	T	9: 53,435,807 (GRCm39)	F168I	probably benign	Het
Atp13a4	A	T	16: 29,290,822 (GRCm39)	I209N	probably damaging	Het
BB014433	A	T	8: 15,092,166 (GRCm39)	L229Q	probably benign	Het
Calml3	T	C	13: 3,854,142 (GRCm39)	D21G	probably damaging	Het
Capn10	A	G	1: 92,872,858 (GRCm39)	N528S	probably damaging	Het
Ccnl2	T	A	4: 155,897,981 (GRCm39)	D141E	possibly damaging	Het
Cd163	A	G	6: 124,296,106 (GRCm39)	I817V	probably benign	Het
Cgnl1	CTTGCCCAGGTT	CTT	9: 71,632,108 (GRCm39)		probably benign	Het
Cln6	T	A	9: 62,757,937 (GRCm39)	I232N	probably damaging	Het
Col22a1	A	C	15: 71,879,010 (GRCm39)	V49G	probably damaging	Het
Csmd1	A	T	8: 15,960,452 (GRCm39)	M3321K	probably damaging	Het
Cyp2u1	T	A	3: 131,091,933 (GRCm39)	M196L	probably benign	Het
Dlec1	T	G	9: 118,975,118 (GRCm39)	L1566R	probably damaging	Het
Dnajc3	A	G	14: 119,209,839 (GRCm39)	T305A	probably benign	Het
Drp2	G	A	X: 133,342,065 (GRCm39)	R567H	probably damaging	Homo
Efhd1	G	T	1: 87,192,280 (GRCm39)	G37W	possibly damaging	Het
Exph5	G	C	9: 53,286,910 (GRCm39)	E1330D	possibly damaging	Het
Fbln2	A	T	6: 91,242,992 (GRCm39)	Y913F	probably benign	Het
Fmnl1	G	A	11: 103,073,482 (GRCm39)	S167N	possibly damaging	Het
Frs3	A	G	17: 48,012,635 (GRCm39)	E114G	probably damaging	Het
Gmpr2	T	C	14: 55,914,252 (GRCm39)	I169T	probably damaging	Het
Gria2	A	G	3: 80,614,448 (GRCm39)	S531P	probably damaging	Het
Hace1	G	A	10: 45,526,046 (GRCm39)	A296T	probably benign	Het
Ift70a1	C	T	2: 75,810,266 (GRCm39)	G606S	probably benign	Het
Inhbb	A	C	1: 119,348,548 (GRCm39)	L90R	probably damaging	Het
Insr	C	T	8: 3,242,665 (GRCm39)	R18Q	probably null	Het
Kdm6b	G	T	11: 69,296,557 (GRCm39)	P570Q	probably damaging	Het
Lama3	T	C	18: 12,651,800 (GRCm39)	V1803A	probably benign	Het
Lpin3	T	A	2: 160,747,207 (GRCm39)	L811Q	probably damaging	Het
Lrrc8e	C	T	8: 4,285,166 (GRCm39)	L464F	probably damaging	Het
Micall2	A	G	5: 139,696,344 (GRCm39)	S729P	probably benign	Het
Naca	C	T	10: 127,878,298 (GRCm39)		probably benign	Het
Nav1	A	T	1: 135,393,709 (GRCm39)	S1010T	probably damaging	Het
Nefm	T	C	14: 68,358,570 (GRCm39)		probably benign	Het
Nlrp9c	A	T	7: 26,085,172 (GRCm39)	F136I	possibly damaging	Het
Nup210	A	T	6: 91,030,418 (GRCm39)	F137Y	probably benign	Het
Or1o3	A	G	17: 37,573,758 (GRCm39)	S266P	probably benign	Het
Or3a1c	A	G	11: 74,046,157 (GRCm39)	H59R	probably damaging	Het
Otog	C	A	7: 45,948,030 (GRCm39)	H2344N	possibly damaging	Het
Otog	C	A	7: 45,954,934 (GRCm39)	C517*	probably null	Het
Pcdhac1	C	T	18: 37,225,580 (GRCm39)	Q798*	probably null	Het
Pdhx	T	C	2: 102,860,657 (GRCm39)	D330G	probably damaging	Het
Peg10	ACATCAGGATCC	ACATCAGGATCCCCATCAGGATCC	6: 4,756,454 (GRCm39)		probably benign	Het
Pgr	C	A	9: 8,900,914 (GRCm39)	P149Q	probably damaging	Het
Plaat1	G	A	16: 29,036,456 (GRCm39)	W31*	probably null	Het
Ppm1h	A	T	10: 122,777,245 (GRCm39)	I504F	probably damaging	Het
Ppp6r3	A	G	19: 3,523,833 (GRCm39)	S556P	probably damaging	Het
Ranbp9	G	A	13: 43,578,570 (GRCm39)	Q168*	probably null	Het
Relb	A	T	7: 19,349,528 (GRCm39)	L259Q	probably benign	Het
Rfx5	G	A	3: 94,863,126 (GRCm39)	V73I	probably benign	Het
Rgcc	T	C	14: 79,527,716 (GRCm39)	D125G	possibly damaging	Het
Rmnd5b	A	G	11: 51,518,735 (GRCm39)	V86A	probably damaging	Het
Slc15a5	G	A	6: 138,020,583 (GRCm39)	T250M	probably damaging	Het
Slc7a2	A	T	8: 41,365,599 (GRCm39)	K477*	probably null	Het
Slx9	A	T	10: 77,351,367 (GRCm39)	W14R	probably null	Het
Smc2	T	A	4: 52,461,042 (GRCm39)		probably null	Het
Sox5	A	T	6: 143,974,070 (GRCm39)	L226*	probably null	Het
Sp140l2	G	T	1: 85,224,815 (GRCm39)	A240E	probably benign	Het
Syne2	A	G	12: 75,990,724 (GRCm39)	E1903G	possibly damaging	Het
Tenm3	A	T	8: 48,688,861 (GRCm39)	I2226N	probably damaging	Het
Tmtc3	A	T	10: 100,283,086 (GRCm39)	I823N	probably damaging	Het
Top6bl	T	A	19: 4,676,112 (GRCm39)	K673N	probably benign	Het
Tor3a	T	C	1: 156,483,342 (GRCm39)	Y360C	probably damaging	Het
Trpc3	T	C	3: 36,716,967 (GRCm39)	E357G	probably benign	Het
Tubgcp6	A	T	15: 88,987,693 (GRCm39)	N1093K	possibly damaging	Het
Vmn1r64	T	A	7: 5,887,052 (GRCm39)	T164S	probably benign	Het
Vmn2r40	T	A	7: 8,911,166 (GRCm39)	Q709L	probably damaging	Het
Vmn2r81	A	T	10: 79,129,247 (GRCm39)	I713L	probably benign	Het
Washc5	T	C	15: 59,205,484 (GRCm39)	T686A	probably benign	Het
Wipf1	GCCTCCTCCTCCTCCTCCTCCTCC	GCCTCCTCCTCCTCCTCCTCC	2: 73,270,418 (GRCm39)		probably benign	Het

Other mutations in Or8k32

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01109:Or8k32	APN	2	86,368,674 (GRCm39)	missense	probably benign	0.12
IGL02289:Or8k32	APN	2	86,368,792 (GRCm39)	missense	probably benign	0.07
IGL02794:Or8k32	APN	2	86,368,492 (GRCm39)	missense	possibly damaging	0.80
R1498:Or8k32	UTSW	2	86,368,902 (GRCm39)	missense	probably benign	0.00
R1923:Or8k32	UTSW	2	86,368,857 (GRCm39)	missense	probably damaging	1.00
R2195:Or8k32	UTSW	2	86,369,247 (GRCm39)	missense	probably benign	0.05
R2211:Or8k32	UTSW	2	86,368,857 (GRCm39)	missense	probably damaging	1.00
R2925:Or8k32	UTSW	2	86,368,891 (GRCm39)	missense	probably damaging	1.00
R4370:Or8k32	UTSW	2	86,368,764 (GRCm39)	missense	possibly damaging	0.78
R4430:Or8k32	UTSW	2	86,368,731 (GRCm39)	missense	probably damaging	0.98
R4678:Or8k32	UTSW	2	86,369,077 (GRCm39)	missense	possibly damaging	0.95
R4790:Or8k32	UTSW	2	86,369,224 (GRCm39)	missense	possibly damaging	0.63
R5905:Or8k32	UTSW	2	86,369,113 (GRCm39)	missense	possibly damaging	0.91
R5984:Or8k32	UTSW	2	86,368,512 (GRCm39)	missense	probably damaging	1.00
R6028:Or8k32	UTSW	2	86,369,113 (GRCm39)	missense	possibly damaging	0.91
R6878:Or8k32	UTSW	2	86,369,109 (GRCm39)	missense	probably damaging	1.00
R7579:Or8k32	UTSW	2	86,368,872 (GRCm39)	missense	probably damaging	0.98
R7942:Or8k32	UTSW	2	86,368,566 (GRCm39)	missense	probably benign	0.42
R8079:Or8k32	UTSW	2	86,368,725 (GRCm39)	missense	possibly damaging	0.60
R8465:Or8k32	UTSW	2	86,368,731 (GRCm39)	missense	probably damaging	0.98

Predicted Primers

PCR Primer
(F):5'- TGGAAGCCACCTTGTCAGTG -3'
(R):5'- GGGTACTTGTAGCAATACCATACC -3'

Sequencing Primer
(F):5'- CCACCTTGTCAGTGTCAAAGGAG -3'
(R):5'- GTAGCAATACCATACCTTTACAGTG -3'

Posted On

2016-05-10