Mutagenetix > Incidental Mutation

Incidental Mutation 'R1452:Or8k3'

161049

Institutional Source

Beutler Lab

Gene Symbol

Or8k3

Ensembl Gene

ENSMUSG00000075196

Gene Name

olfactory receptor family 8 subfamily K member 3

Synonyms

GA_x6K02T2Q125-47703682-47702723, MOR188-3, Olfr1047

MMRRC Submission

039507-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.134) question?

Stock #

R1452 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

86058354-86059313 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 86058799 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Isoleucine at position 172 (N172I)

Ref Sequence

ENSEMBL: ENSMUSP00000150247 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000099901] [ENSMUST00000216056]

AlphaFold

Q8VGS0

Predicted Effect

probably damaging
Transcript: ENSMUST00000099901
AA Change: N172I

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000097485
Gene: ENSMUSG00000075196
AA Change: N172I

Domain	Start	End	E-Value	Type
Pfam:7tm_4	31	308	5e-51	PFAM
Pfam:7tm_1	41	290	4.8e-21	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000216056
AA Change: N172I

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)

Meta Mutation Damage Score

0.1250

Coding Region Coverage

1x: 98.9%
3x: 97.8%
10x: 94.8%
20x: 87.5%

Validation Efficiency

99% (70/71)

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: 69 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A2m	A	G	6: 121,655,015 (GRCm39)	I1446M	probably benign	Het
Acaca	T	A	11: 84,185,885 (GRCm39)		probably benign	Het
Adgre4	A	T	17: 56,091,996 (GRCm39)	E85D	probably benign	Het
Akt3	A	T	1: 176,958,633 (GRCm39)	Y26N	possibly damaging	Het
Arl15	T	C	13: 114,104,319 (GRCm39)	V132A	probably benign	Het
Atp6v1h	A	G	1: 5,168,360 (GRCm39)		probably benign	Het
Atrip	T	A	9: 108,901,727 (GRCm39)	D110V	probably damaging	Het
Bahcc1	T	G	11: 120,173,065 (GRCm39)		probably benign	Het
Cd53	C	T	3: 106,676,275 (GRCm39)	G31S	probably damaging	Het
Cdk14	T	C	5: 4,938,927 (GRCm39)	S404G	possibly damaging	Het
Cers3	A	T	7: 66,433,152 (GRCm39)	K156N	probably damaging	Het
Colgalt2	C	A	1: 152,379,904 (GRCm39)	L448M	probably damaging	Het
Cox15	G	T	19: 43,735,344 (GRCm39)	T141K	probably damaging	Het
Csnk2a2	C	T	8: 96,184,003 (GRCm39)		probably benign	Het
Cyp2b10	A	T	7: 25,624,813 (GRCm39)		probably benign	Het
Cyp2c55	A	G	19: 38,999,534 (GRCm39)	Y80C	probably damaging	Het
Depdc1a	A	G	3: 159,232,328 (GRCm39)	Y693C	possibly damaging	Het
Des	T	C	1: 75,340,121 (GRCm39)	S343P	probably damaging	Het
Dync1i2	T	C	2: 71,080,207 (GRCm39)		probably benign	Het
Eif3m	T	A	2: 104,837,122 (GRCm39)	Q199L	probably damaging	Het
Emsy	G	T	7: 98,249,881 (GRCm39)	T802K	probably damaging	Het
Endov	A	G	11: 119,382,651 (GRCm39)	T33A	probably damaging	Het
Epb41l5	G	A	1: 119,476,896 (GRCm39)	T728I	probably damaging	Het
Fbxo39	A	G	11: 72,209,228 (GRCm39)	I363V	probably benign	Het
Gm8674	C	T	13: 50,054,553 (GRCm39)		noncoding transcript	Het
Il6st	T	A	13: 112,617,998 (GRCm39)	N137K	possibly damaging	Het
Inf2	A	G	12: 112,567,778 (GRCm39)	N136S	probably damaging	Het
Iqub	A	T	6: 24,491,558 (GRCm39)	I376N	probably benign	Het
Kansl3	A	G	1: 36,393,874 (GRCm39)		probably benign	Het
Kbtbd2	A	T	6: 56,758,909 (GRCm39)	H71Q	probably damaging	Het
Lgals8	G	T	13: 12,468,208 (GRCm39)	Y140*	probably null	Het
Mab21l4	T	C	1: 93,080,661 (GRCm39)	Y415C	probably damaging	Het
Macf1	T	A	4: 123,387,791 (GRCm39)	I924L	probably benign	Het
Mcoln2	A	T	3: 145,887,569 (GRCm39)	T329S	possibly damaging	Het
Mex3d	A	T	10: 80,217,354 (GRCm39)	L621Q	probably damaging	Het
Mmut	A	G	17: 41,248,359 (GRCm39)		probably benign	Het
Ncor1	T	C	11: 62,225,457 (GRCm39)	H1038R	probably damaging	Het
Neb	A	G	2: 52,161,309 (GRCm39)		probably null	Het
Ngrn	A	G	7: 79,914,520 (GRCm39)	T224A	probably benign	Het
Nin	G	A	12: 70,064,424 (GRCm39)	R2019*	probably null	Het
Nphp4	C	G	4: 152,631,475 (GRCm39)	Q792E	probably damaging	Het
Or13e8	C	T	4: 43,696,823 (GRCm39)	V117M	probably benign	Het
Or2z9	C	T	8: 72,854,020 (GRCm39)	Q139*	probably null	Het
Or4c3d	C	T	2: 89,882,015 (GRCm39)	V218I	possibly damaging	Het
Or5d38	C	T	2: 87,954,655 (GRCm39)	V225I	probably benign	Het
Pde4dip	C	A	3: 97,631,418 (GRCm39)	V1164L	probably damaging	Het
Plppr1	A	G	4: 49,301,067 (GRCm39)		probably benign	Het
Pole2	G	A	12: 69,254,703 (GRCm39)	L381F	probably benign	Het
Ppp2r5e	A	G	12: 75,516,310 (GRCm39)		probably benign	Het
Prim2	T	A	1: 33,669,485 (GRCm39)	E163D	probably benign	Het
Prrc2b	A	T	2: 32,084,997 (GRCm39)	D296V	probably damaging	Het
Pter	A	G	2: 12,983,432 (GRCm39)		probably benign	Het
Resf1	A	T	6: 149,228,130 (GRCm39)	K392I	probably damaging	Het
Robo2	C	A	16: 73,758,798 (GRCm39)	V662L	probably damaging	Het
Sirpd	G	T	3: 15,397,212 (GRCm39)	T24K	unknown	Het
Slco1b2	A	T	6: 141,617,926 (GRCm39)	I424F	probably benign	Het
Snx29	A	T	16: 11,449,335 (GRCm39)	H260L	probably damaging	Het
Stil	A	G	4: 114,896,392 (GRCm39)	N959S	probably benign	Het
Taar8c	A	T	10: 23,977,508 (GRCm39)	D101E	probably benign	Het
Tns2	C	T	15: 102,017,369 (GRCm39)	R281C	probably damaging	Het
Trpc6	G	A	9: 8,653,148 (GRCm39)	M573I	probably damaging	Het
Tsr1	A	T	11: 74,790,425 (GRCm39)	D171V	probably benign	Het
Ube4b	T	C	4: 149,455,626 (GRCm39)	T348A	probably damaging	Het
Vmn1r85	A	T	7: 12,818,808 (GRCm39)	I112N	probably damaging	Het
Vps36	A	G	8: 22,708,226 (GRCm39)		probably null	Het
Wdfy3	G	A	5: 102,085,604 (GRCm39)	A630V	possibly damaging	Het
Wdsub1	A	T	2: 59,707,144 (GRCm39)	D14E	probably null	Het
Ylpm1	T	C	12: 85,077,157 (GRCm39)	I1294T	possibly damaging	Het
Zdhhc17	A	G	10: 110,790,936 (GRCm39)	F378L	probably benign	Het

Other mutations in Or8k3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01419:Or8k3	APN	2	86,058,973 (GRCm39)	missense	possibly damaging	0.78
IGL01470:Or8k3	APN	2	86,058,628 (GRCm39)	missense	probably benign	0.26
IGL02179:Or8k3	APN	2	86,058,591 (GRCm39)	nonsense	probably null
IGL02703:Or8k3	APN	2	86,059,323 (GRCm39)	utr 5 prime	probably benign
R0370:Or8k3	UTSW	2	86,059,057 (GRCm39)	missense	probably damaging	0.99
R1655:Or8k3	UTSW	2	86,058,424 (GRCm39)	missense	possibly damaging	0.95
R1866:Or8k3	UTSW	2	86,059,072 (GRCm39)	missense	probably damaging	0.99
R1970:Or8k3	UTSW	2	86,058,596 (GRCm39)	missense	probably damaging	1.00
R2385:Or8k3	UTSW	2	86,058,817 (GRCm39)	nonsense	probably null
R3411:Or8k3	UTSW	2	86,058,986 (GRCm39)	missense	probably benign	0.08
R3730:Or8k3	UTSW	2	86,059,195 (GRCm39)	missense	probably benign	0.00
R4655:Or8k3	UTSW	2	86,059,037 (GRCm39)	missense	probably benign	0.26
R6168:Or8k3	UTSW	2	86,058,938 (GRCm39)	missense	probably damaging	0.99
R6190:Or8k3	UTSW	2	86,058,578 (GRCm39)	missense	possibly damaging	0.67
R6492:Or8k3	UTSW	2	86,058,731 (GRCm39)	missense	possibly damaging	0.91
R7419:Or8k3	UTSW	2	86,058,557 (GRCm39)	missense	probably damaging	1.00
R8074:Or8k3	UTSW	2	86,058,473 (GRCm39)	missense	possibly damaging	0.55
R8220:Or8k3	UTSW	2	86,059,309 (GRCm39)	missense	probably benign	0.00
R8506:Or8k3	UTSW	2	86,058,922 (GRCm39)	missense	possibly damaging	0.84
R8559:Or8k3	UTSW	2	86,058,988 (GRCm39)	missense	probably benign	0.00
R8723:Or8k3	UTSW	2	86,058,786 (GRCm39)	missense	probably damaging	1.00
R9037:Or8k3	UTSW	2	86,059,042 (GRCm39)	missense	probably benign	0.16
Z1088:Or8k3	UTSW	2	86,058,566 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TGGCTGGAATTAGGCTGCACATAC -3'
(R):5'- TGATCATCCTCACCACAGTGGACTC -3'

Sequencing Primer
(F):5'- CAATGACTACTGTCAGGTGGGAC -3'
(R):5'- ACATCTGGCGATTACAGATCTTGG -3'

Posted On

2014-03-14