Mutagenetix > Incidental Mutation

Incidental Mutation 'R6220:Or4k2'

503972

Institutional Source

Beutler Lab

Gene Symbol

Or4k2

Ensembl Gene

ENSMUSG00000109835

Gene Name

olfactory receptor family 4 subfamily K member 2

Synonyms

MOR247-1, Olfr730, GA_x6K02T2PMLR-5881670-5880717

MMRRC Submission

044352-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.199) question?

Stock #

R6220 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

50423719-50424675 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 50424135 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Tyrosine at position 180 (D180Y)

Ref Sequence

ENSEMBL: ENSMUSP00000145742 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000051453] [ENSMUST00000205837]

AlphaFold

E9Q8M3

Predicted Effect

probably damaging
Transcript: ENSMUST00000051453
AA Change: D181Y

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

SMART Domains

Protein: ENSMUSP00000060325
Gene: ENSMUSG00000109835
AA Change: D181Y

Domain	Start	End	E-Value	Type
Pfam:7tm_4	32	305	3.4e-44	PFAM
Pfam:7tm_1	42	288	1.2e-17	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000205837
AA Change: D180Y

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000215779

Meta Mutation Damage Score

0.4507

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.3%

Validation Efficiency

100% (65/65)

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: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abhd16b	A	G	2: 181,135,578 (GRCm39)	D160G	probably damaging	Het
Acap1	A	G	11: 69,780,505 (GRCm39)	F15S	probably damaging	Het
Adam30	A	T	3: 98,068,625 (GRCm39)	S153C	probably damaging	Het
Afp	A	T	5: 90,652,269 (GRCm39)	D420V	possibly damaging	Het
Ak9	T	A	10: 41,246,095 (GRCm39)	H729Q	unknown	Het
Armh3	T	C	19: 45,834,554 (GRCm39)	E618G	possibly damaging	Het
Arsi	G	A	18: 61,049,723 (GRCm39)	G202E	probably benign	Het
Bcr	A	G	10: 74,898,124 (GRCm39)	T423A	probably benign	Het
Cc2d1b	C	T	4: 108,490,422 (GRCm39)	R825W	probably damaging	Het
Ctns	T	C	11: 73,083,954 (GRCm39)	T23A	probably benign	Het
Ddx54	T	A	5: 120,758,754 (GRCm39)	N332K	probably benign	Het
Dysf	T	A	6: 84,126,727 (GRCm39)	I1344N	probably damaging	Het
Elovl3	A	T	19: 46,122,939 (GRCm39)	M172L	probably benign	Het
Fbxo6	A	T	4: 148,233,979 (GRCm39)	I39N	probably damaging	Het
Filip1l	T	A	16: 57,390,352 (GRCm39)	N313K	probably benign	Het
Foxp2	C	A	6: 15,437,947 (GRCm39)	T716K	probably damaging	Het
Gm10549	C	A	18: 33,597,358 (GRCm39)		probably benign	Het
Gm10645	A	G	8: 83,892,386 (GRCm39)		probably benign	Het
Gm10735	T	C	13: 113,178,030 (GRCm39)		probably benign	Het
Gm4847	A	T	1: 166,462,541 (GRCm39)	D316E	probably damaging	Het
Gorasp2	T	C	2: 70,521,134 (GRCm39)	L388P	probably damaging	Het
Heatr5b	A	G	17: 79,081,106 (GRCm39)	L1382P	probably damaging	Het
Herc1	A	G	9: 66,341,070 (GRCm39)	Y1729C	probably damaging	Het
Ifi207	A	T	1: 173,557,112 (GRCm39)	L542H	probably damaging	Het
Ighv3-5	T	A	12: 114,226,338 (GRCm39)	N96I	probably damaging	Het
Isl1	T	C	13: 116,439,803 (GRCm39)	T182A	probably benign	Het
Jph4	T	C	14: 55,347,542 (GRCm39)	E421G	probably benign	Het
Lrrc45	T	C	11: 120,610,353 (GRCm39)	I488T	probably benign	Het
Mroh8	A	G	2: 157,075,083 (GRCm39)	I471T	probably benign	Het
Ms4a2	A	T	19: 11,594,927 (GRCm39)	D96E	probably damaging	Het
Mst1r	T	A	9: 107,784,547 (GRCm39)	N68K	probably benign	Het
Myo18b	A	G	5: 112,905,373 (GRCm39)	M2075T	possibly damaging	Het
Neb	T	C	2: 52,160,984 (GRCm39)	K2229R	probably null	Het
Nkx6-3	T	A	8: 23,643,987 (GRCm39)		probably null	Het
Nlrp1a	C	A	11: 71,033,164 (GRCm39)	S10I	probably benign	Het
Npas2	A	T	1: 39,375,142 (GRCm39)	T487S	probably benign	Het
Nrxn1	G	C	17: 91,395,904 (GRCm39)	T84R	probably benign	Het
Otx1	C	A	11: 21,947,037 (GRCm39)	A91S	probably damaging	Het
Pcdh18	A	G	3: 49,699,700 (GRCm39)	C921R	probably damaging	Het
Pcdha9	A	G	18: 37,131,531 (GRCm39)	Y200C	probably damaging	Het
Pknox1	A	T	17: 31,822,177 (GRCm39)	R315*	probably null	Het
Rasgrp1	C	T	2: 117,115,410 (GRCm39)	W726*	probably null	Het
Rassf8	G	A	6: 145,762,859 (GRCm39)	R402H	probably damaging	Het
Rev3l	T	A	10: 39,698,775 (GRCm39)	Y1091N	probably damaging	Het
Riok3	T	G	18: 12,282,608 (GRCm39)	V349G	probably damaging	Het
Rps18	A	T	17: 34,174,110 (GRCm39)	V15E	probably damaging	Het
Rptor	A	T	11: 119,788,268 (GRCm39)	Y1323F	possibly damaging	Het
Rspry1	T	C	8: 95,385,378 (GRCm39)	C437R	probably damaging	Het
Sema5a	T	A	15: 32,686,875 (GRCm39)	Y996N	probably damaging	Het
Smarcad1	A	G	6: 65,091,313 (GRCm39)	I1011M	probably benign	Het
Supv3l1	A	T	10: 62,274,800 (GRCm39)	M295K	possibly damaging	Het
Sv2c	T	C	13: 96,113,134 (GRCm39)	D605G	probably damaging	Het
Teddm1b	G	A	1: 153,750,947 (GRCm39)	W252*	probably null	Het
Tes	T	A	6: 17,086,195 (GRCm39)	C29*	probably null	Het
Thsd4	A	G	9: 59,890,030 (GRCm39)	W856R	probably damaging	Het
Treml4	A	T	17: 48,571,876 (GRCm39)	D93V	possibly damaging	Het
Trim66	T	C	7: 109,082,300 (GRCm39)	T218A	probably damaging	Het
Tssk5	T	C	15: 76,257,973 (GRCm39)	D128G	probably damaging	Het
Ubr3	T	A	2: 69,850,819 (GRCm39)	W1746R	probably damaging	Het
Vmn2r11	T	C	5: 109,201,434 (GRCm39)	I357V	probably benign	Het
Vmn2r87	A	T	10: 130,315,807 (GRCm39)	D86E	probably benign	Het
Zfp184	T	G	13: 22,144,377 (GRCm39)	H694Q	probably damaging	Het
Zranb3	A	C	1: 127,927,141 (GRCm39)	F341L	probably benign	Het

Other mutations in Or4k2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01998:Or4k2	APN	14	50,424,105 (GRCm39)	missense	probably benign	0.36
IGL02976:Or4k2	APN	14	50,423,889 (GRCm39)	nonsense	probably null
IGL03065:Or4k2	APN	14	50,424,465 (GRCm39)	missense	probably damaging	1.00
IGL03122:Or4k2	APN	14	50,424,461 (GRCm39)	missense	probably damaging	0.98
R0277:Or4k2	UTSW	14	50,423,789 (GRCm39)	missense	probably null	0.06
R1081:Or4k2	UTSW	14	50,424,654 (GRCm39)	missense	probably damaging	1.00
R1189:Or4k2	UTSW	14	50,424,539 (GRCm39)	missense	probably damaging	0.99
R1501:Or4k2	UTSW	14	50,424,539 (GRCm39)	missense	probably damaging	0.99
R2680:Or4k2	UTSW	14	50,424,304 (GRCm39)	nonsense	probably null
R2869:Or4k2	UTSW	14	50,423,811 (GRCm39)	missense	probably benign	0.08
R2869:Or4k2	UTSW	14	50,423,811 (GRCm39)	missense	probably benign	0.08
R3415:Or4k2	UTSW	14	50,424,069 (GRCm39)	missense	possibly damaging	0.60
R3417:Or4k2	UTSW	14	50,424,069 (GRCm39)	missense	possibly damaging	0.60
R3721:Or4k2	UTSW	14	50,424,137 (GRCm39)	missense	probably damaging	1.00
R4864:Or4k2	UTSW	14	50,424,039 (GRCm39)	missense	probably damaging	0.97
R5037:Or4k2	UTSW	14	50,423,745 (GRCm39)	missense	probably benign	0.00
R5349:Or4k2	UTSW	14	50,424,230 (GRCm39)	nonsense	probably null
R5738:Or4k2	UTSW	14	50,424,105 (GRCm39)	missense	probably benign	0.09
R5779:Or4k2	UTSW	14	50,424,203 (GRCm39)	missense	possibly damaging	0.82
R5853:Or4k2	UTSW	14	50,424,326 (GRCm39)	missense	possibly damaging	0.88
R5918:Or4k2	UTSW	14	50,424,425 (GRCm39)	missense	probably benign
R6166:Or4k2	UTSW	14	50,424,225 (GRCm39)	missense	probably benign
R6196:Or4k2	UTSW	14	50,424,135 (GRCm39)	missense	probably damaging	1.00
R6218:Or4k2	UTSW	14	50,424,135 (GRCm39)	missense	probably damaging	1.00
R6561:Or4k2	UTSW	14	50,423,775 (GRCm39)	missense	probably damaging	1.00
R6798:Or4k2	UTSW	14	50,424,584 (GRCm39)	missense	probably benign	0.00
R6834:Or4k2	UTSW	14	50,423,940 (GRCm39)	missense	probably benign	0.12
R7174:Or4k2	UTSW	14	50,424,153 (GRCm39)	missense	probably benign	0.00
R7406:Or4k2	UTSW	14	50,424,015 (GRCm39)	missense	probably damaging	0.97
R7592:Or4k2	UTSW	14	50,424,020 (GRCm39)	missense	probably damaging	1.00
R7886:Or4k2	UTSW	14	50,424,021 (GRCm39)	missense	probably damaging	1.00
R8081:Or4k2	UTSW	14	50,423,825 (GRCm39)	missense	probably damaging	1.00
R8280:Or4k2	UTSW	14	50,423,723 (GRCm39)	nonsense	probably null
R8393:Or4k2	UTSW	14	50,424,342 (GRCm39)	nonsense	probably null
R8526:Or4k2	UTSW	14	50,423,719 (GRCm39)	splice site	probably null
R8683:Or4k2	UTSW	14	50,424,203 (GRCm39)	missense	possibly damaging	0.82
R8936:Or4k2	UTSW	14	50,423,999 (GRCm39)	missense	possibly damaging	0.82
R9285:Or4k2	UTSW	14	50,424,122 (GRCm39)	missense	probably benign	0.40
X0023:Or4k2	UTSW	14	50,424,658 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GGTTGAAAGAGCCTTAGATGATCC -3'
(R):5'- CCACCTGTTCACTGGTACTGAG -3'

Sequencing Primer
(F):5'- AGAGCCTTAGATGATCCTTTGGAAG -3'
(R):5'- TCTTTTGACAGGTATATTGCAATTTG -3'

Posted On

2018-02-27