Mutagenetix > Incidental Mutation

Incidental Mutation 'R4073:Or4k5'

316414

Institutional Source

Beutler Lab

Gene Symbol

Or4k5

Ensembl Gene

ENSMUSG00000049011

Gene Name

olfactory receptor family 4 subfamily K member 5

Synonyms

MOR246-6, GA_x6K02T2PMLR-5839874-5838903, Olfr729

MMRRC Submission

041621-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.105) question?

Stock #

R4073 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

50385358-50386329 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 50385500 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 277 (V277A)

Ref Sequence

ENSEMBL: ENSMUSP00000149189 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000061020] [ENSMUST00000213163] [ENSMUST00000215327] [ENSMUST00000215451]

AlphaFold

Q8VET4

Predicted Effect

possibly damaging
Transcript: ENSMUST00000061020
AA Change: V277A

PolyPhen 2 Score 0.548 (Sensitivity: 0.88; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000051755
Gene: ENSMUSG00000049011
AA Change: V277A

Domain	Start	End	E-Value	Type
Pfam:7tm_4	31	304	8.3e-46	PFAM
Pfam:7TM_GPCR_Srsx	35	286	1.4e-5	PFAM
Pfam:7tm_1	41	287	2.4e-18	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000213163
AA Change: V277A

PolyPhen 2 Score 0.548 (Sensitivity: 0.88; Specificity: 0.91)

Predicted Effect

possibly damaging
Transcript: ENSMUST00000215327
AA Change: V277A

PolyPhen 2 Score 0.548 (Sensitivity: 0.88; Specificity: 0.91)

Predicted Effect

possibly damaging
Transcript: ENSMUST00000215451
AA Change: V277A

PolyPhen 2 Score 0.548 (Sensitivity: 0.88; Specificity: 0.91)

Meta Mutation Damage Score

0.1695

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.4%
20x: 95.4%

Validation Efficiency

96% (67/70)

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: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4932415M13Rik	C	T	17: 54,031,494 (GRCm39)		noncoding transcript	Het
Alox12	T	C	11: 70,138,136 (GRCm39)	N400D	probably damaging	Het
Axl	A	G	7: 25,463,336 (GRCm39)		probably benign	Het
Cbs	C	T	17: 31,851,979 (GRCm39)	C8Y	possibly damaging	Het
Ccdc103	C	T	11: 102,774,925 (GRCm39)	R175W	probably damaging	Het
Clasp1	T	C	1: 118,431,578 (GRCm39)	F171L	probably damaging	Het
Cnot10	A	G	9: 114,452,015 (GRCm39)	F254L	possibly damaging	Het
Cytl1	A	G	5: 37,892,940 (GRCm39)	I17V	unknown	Het
Dnah11	A	G	12: 118,009,413 (GRCm39)	M2083T	probably benign	Het
Dock7	A	T	4: 98,896,296 (GRCm39)	S768R	probably benign	Het
Egf	C	T	3: 129,529,618 (GRCm39)	R264Q	probably benign	Het
Ehhadh	T	C	16: 21,585,257 (GRCm39)	D208G	probably benign	Het
Eqtn	A	G	4: 94,808,199 (GRCm39)	I201T	possibly damaging	Het
Erbin	T	C	13: 103,996,619 (GRCm39)	E211G	probably damaging	Het
Ercc4	G	A	16: 12,948,549 (GRCm39)	V499I	probably damaging	Het
Gpd2	A	G	2: 57,180,025 (GRCm39)	R91G	probably damaging	Het
Herc1	A	G	9: 66,325,774 (GRCm39)	D1416G	probably benign	Het
Ighv1-30	C	T	12: 114,781,021 (GRCm39)		noncoding transcript	Het
Il23r	A	G	6: 67,463,106 (GRCm39)	I129T	probably damaging	Het
Jph4	T	C	14: 55,352,497 (GRCm39)	S79G	probably benign	Het
Lamp3	A	G	16: 19,519,466 (GRCm39)	L239P	possibly damaging	Het
Lrig3	C	T	10: 125,849,277 (GRCm39)	T999I	probably benign	Het
Lrrc71	G	A	3: 87,652,569 (GRCm39)	T185I	probably benign	Het
Mroh1	A	G	15: 76,292,185 (GRCm39)	D219G	probably benign	Het
Mtor	T	A	4: 148,633,832 (GRCm39)	S2342T	probably damaging	Het
Nf2	T	C	11: 4,798,958 (GRCm39)	S10G	probably benign	Het
Nlrp4c	A	G	7: 6,075,709 (GRCm39)	K667E	probably benign	Het
Nrm	T	A	17: 36,172,424 (GRCm39)		probably benign	Het
Nsd1	T	A	13: 55,395,541 (GRCm39)	H1047Q	probably benign	Het
Obox3	G	T	7: 15,359,724 (GRCm39)	T315N	possibly damaging	Het
Or2t47	T	C	11: 58,442,888 (GRCm39)	Y59C	probably damaging	Het
Or4x13	T	C	2: 90,231,337 (GRCm39)	F111L	probably benign	Het
Or5b3	G	A	19: 13,388,299 (GRCm39)	R122H	possibly damaging	Het
Or6aa1	T	A	7: 86,044,155 (GRCm39)	I184F	probably damaging	Het
Or8b38	T	C	9: 37,973,165 (GRCm39)	L183P	probably damaging	Het
Pbx3	T	C	2: 34,114,424 (GRCm39)	Y112C	probably damaging	Het
Pde11a	C	T	2: 76,168,242 (GRCm39)	R237H	probably damaging	Het
Phactr1	ACTT	A	13: 43,213,245 (GRCm39)		probably benign	Het
Pidd1	A	G	7: 141,020,739 (GRCm39)	F453L	probably damaging	Het
Ptgs1	C	T	2: 36,127,788 (GRCm39)	R116C	probably damaging	Het
Rab39b	T	C	X: 74,618,658 (GRCm39)		probably benign	Het
Rpp25	T	C	9: 57,411,592 (GRCm39)	S25P	probably benign	Het
Rrbp1	T	G	2: 143,805,030 (GRCm39)	Q1045P	probably benign	Het
Sbk3	G	T	7: 4,973,501 (GRCm39)	A41D	probably damaging	Het
Slc24a3	T	A	2: 145,455,636 (GRCm39)		probably benign	Het
Slc28a3	T	C	13: 58,707,104 (GRCm39)	I565V	probably benign	Het
Slc35a3	T	C	3: 116,468,887 (GRCm39)	T275A	probably benign	Het
Spink12	A	G	18: 44,237,731 (GRCm39)	N3S	possibly damaging	Het
Srp72	C	A	5: 77,146,098 (GRCm39)	T633K	probably benign	Het
Tab3	G	T	X: 84,658,063 (GRCm39)	V197F	probably damaging	Het
Taf2	A	G	15: 54,915,633 (GRCm39)	L431P	probably damaging	Het
Tas2r131	A	T	6: 132,934,802 (GRCm39)	Y2*	probably null	Het
Tmprss11e	T	C	5: 86,863,502 (GRCm39)	T188A	possibly damaging	Het
Trpv1	T	C	11: 73,141,606 (GRCm39)	V175A	probably damaging	Het
Usp21	T	C	1: 171,109,746 (GRCm39)		probably benign	Het
Vmn1r25	A	G	6: 57,955,572 (GRCm39)	V239A	possibly damaging	Het
Zbbx	C	T	3: 75,012,978 (GRCm39)	G151E	probably damaging	Het
Zfhx4	G	T	3: 5,464,384 (GRCm39)	C1514F	probably damaging	Het

Other mutations in Or4k5

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01802:Or4k5	APN	14	50,386,173 (GRCm39)	missense	probably benign	0.38
IGL02736:Or4k5	APN	14	50,385,881 (GRCm39)	missense	probably benign	0.01
IGL02798:Or4k5	APN	14	50,385,835 (GRCm39)	missense	probably benign
IGL03267:Or4k5	APN	14	50,386,304 (GRCm39)	missense	probably damaging	1.00
R0082:Or4k5	UTSW	14	50,385,512 (GRCm39)	missense	probably damaging	0.97
R0225:Or4k5	UTSW	14	50,386,092 (GRCm39)	missense	probably damaging	1.00
R0503:Or4k5	UTSW	14	50,385,935 (GRCm39)	missense	probably damaging	1.00
R1022:Or4k5	UTSW	14	50,385,384 (GRCm39)	missense	probably benign
R1024:Or4k5	UTSW	14	50,385,384 (GRCm39)	missense	probably benign
R1424:Or4k5	UTSW	14	50,385,922 (GRCm39)	missense	possibly damaging	0.83
R1440:Or4k5	UTSW	14	50,385,815 (GRCm39)	missense	probably damaging	1.00
R1479:Or4k5	UTSW	14	50,386,245 (GRCm39)	missense	probably benign	0.00
R1583:Or4k5	UTSW	14	50,386,231 (GRCm39)	missense	probably benign	0.00
R1817:Or4k5	UTSW	14	50,385,728 (GRCm39)	missense	probably benign	0.00
R2155:Or4k5	UTSW	14	50,386,154 (GRCm39)	missense	probably damaging	1.00
R2282:Or4k5	UTSW	14	50,385,776 (GRCm39)	missense	probably benign
R2926:Or4k5	UTSW	14	50,385,893 (GRCm39)	missense	probably benign	0.19
R3790:Or4k5	UTSW	14	50,386,026 (GRCm39)	missense	possibly damaging	0.51
R5945:Or4k5	UTSW	14	50,386,220 (GRCm39)	missense	probably benign
R6714:Or4k5	UTSW	14	50,385,671 (GRCm39)	missense	possibly damaging	0.95
R7112:Or4k5	UTSW	14	50,385,392 (GRCm39)	missense	probably benign	0.00
R7157:Or4k5	UTSW	14	50,385,689 (GRCm39)	missense	probably damaging	1.00
R7511:Or4k5	UTSW	14	50,385,713 (GRCm39)	missense	probably damaging	1.00
R7815:Or4k5	UTSW	14	50,386,253 (GRCm39)	missense	probably benign	0.36
R8833:Or4k5	UTSW	14	50,385,823 (GRCm39)	nonsense	probably null
R9486:Or4k5	UTSW	14	50,385,672 (GRCm39)	missense	probably benign	0.21
R9608:Or4k5	UTSW	14	50,386,055 (GRCm39)	missense	probably benign	0.35
Z1177:Or4k5	UTSW	14	50,386,308 (GRCm39)	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- CAATTAGTGCATACATACCACTCTG -3'
(R):5'- AAACTCGCCTGCATTGACTC -3'

Sequencing Primer
(F):5'- ATATTTGCAAGTAGACAATTGGTTTG -3'
(R):5'- TGTGGTAAACAGTGGAATTCTTTCC -3'

Posted On

2015-05-15