Mutagenetix > Incidental Mutation

Incidental Mutation 'R2516:Or4k1'

253843

Institutional Source

Beutler Lab

Gene Symbol

Or4k1

Ensembl Gene

ENSMUSG00000050030

Gene Name

olfactory receptor family 4 subfamily K member 1

Synonyms

Olfr728, GA_x6K02T2PMLR-5831021-5830086, MOR246-1P

MMRRC Submission

040420-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.575) question?

Stock #

R2516 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

50377159-50378094 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 50377440 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 219 (I219V)

Ref Sequence

ENSEMBL: ENSMUSP00000149796 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000051563] [ENSMUST00000213163] [ENSMUST00000213685] [ENSMUST00000215327] [ENSMUST00000215451]

AlphaFold

Q7TRM6

Predicted Effect

probably benign
Transcript: ENSMUST00000051563
AA Change: I219V

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000052079
Gene: ENSMUSG00000050030
AA Change: I219V

Domain	Start	End	E-Value	Type
Pfam:7tm_4	31	304	9.8e-43	PFAM
Pfam:7TM_GPCR_Srx	31	304	9.8e-7	PFAM
Pfam:7TM_GPCR_Srsx	35	297	6.5e-9	PFAM
Pfam:7tm_1	41	287	1e-18	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000213163

Predicted Effect

probably benign
Transcript: ENSMUST00000213685
AA Change: I219V

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000214046

Predicted Effect

probably benign
Transcript: ENSMUST00000215327

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000215329

Predicted Effect

probably benign
Transcript: ENSMUST00000215451

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000216423

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.1%

Validation Efficiency

98% (65/66)

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: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb11	A	T	2: 69,159,673 (GRCm39)	I6N	possibly damaging	Het
Aen	T	C	7: 78,555,616 (GRCm39)	V188A	probably damaging	Het
Afg3l1	A	G	8: 124,228,693 (GRCm39)	E753G	probably damaging	Het
Alas1	G	A	9: 106,115,859 (GRCm39)	T385I	probably damaging	Het
Alms1	C	A	6: 85,644,945 (GRCm39)		probably benign	Het
Ankrd65	A	G	4: 155,875,868 (GRCm39)	T30A	possibly damaging	Het
App	T	C	16: 84,775,117 (GRCm39)	S582G	probably damaging	Het
Arfgef1	A	T	1: 10,223,879 (GRCm39)	V1473E	possibly damaging	Het
Arhgap21	G	A	2: 20,859,809 (GRCm39)	P1196S	probably damaging	Het
Arhgap24	A	G	5: 103,039,776 (GRCm39)	T238A	probably benign	Het
Atf7	T	C	15: 102,437,439 (GRCm39)		probably benign	Het
Best1	G	T	19: 9,970,675 (GRCm39)	S55*	probably null	Het
Capn11	A	G	17: 45,944,725 (GRCm39)	V514A	probably damaging	Het
Cep104	T	A	4: 154,073,603 (GRCm39)	M52K	probably damaging	Het
Clca3a1	C	T	3: 144,443,619 (GRCm39)		probably null	Het
Cyp3a25	T	C	5: 145,939,837 (GRCm39)		probably null	Het
Dmxl2	G	A	9: 54,307,378 (GRCm39)	P2197S	probably damaging	Het
Drosha	T	C	15: 12,859,551 (GRCm39)		probably null	Het
Exosc9	A	G	3: 36,617,311 (GRCm39)	K355R	probably benign	Het
Fut1	A	C	7: 45,268,622 (GRCm39)	H192P	probably benign	Het
Gm572	T	A	4: 148,748,841 (GRCm39)	V166D	possibly damaging	Het
Gm9966	C	T	7: 95,607,735 (GRCm39)	P19S	unknown	Het
Gmds	C	T	13: 32,284,456 (GRCm39)	V219I	probably damaging	Het
Gsn	G	A	2: 35,173,965 (GRCm39)	E25K	probably benign	Het
Il4i1	T	C	7: 44,489,315 (GRCm39)	F368S	probably damaging	Het
Irak1bp1	T	C	9: 82,712,373 (GRCm39)	L98P	probably damaging	Het
Khdrbs3	T	C	15: 68,896,544 (GRCm39)		probably benign	Het
Kndc1	T	C	7: 139,501,738 (GRCm39)	I925T	probably damaging	Het
Laptm4a	T	C	12: 8,988,151 (GRCm39)	I296T	probably benign	Het
Lpl	A	T	8: 69,340,170 (GRCm39)	H55L	probably benign	Het
Lrrk2	C	A	15: 91,640,130 (GRCm39)	N1558K	probably benign	Het
Mfsd2a	A	G	4: 122,844,280 (GRCm39)	L289P	probably damaging	Het
Mmrn2	T	A	14: 34,120,759 (GRCm39)	M543K	probably benign	Het
Mnat1	T	C	12: 73,228,550 (GRCm39)		probably benign	Het
Msto1	A	T	3: 88,819,200 (GRCm39)		probably null	Het
Mtus1	A	G	8: 41,535,776 (GRCm39)	Y647H	probably damaging	Het
Nars1	A	T	18: 64,638,087 (GRCm39)	V289E	probably damaging	Het
Oit3	T	A	10: 59,264,167 (GRCm39)	K322N	probably damaging	Het
Oit3	G	A	10: 59,277,507 (GRCm39)		probably benign	Het
Or5b113	T	A	19: 13,342,557 (GRCm39)	C188*	probably null	Het
Or5m12	A	G	2: 85,734,900 (GRCm39)	I166T	probably benign	Het
Or6c211	G	A	10: 129,506,155 (GRCm39)	R78W	probably damaging	Het
Pecr	A	T	1: 72,316,469 (GRCm39)	C79S	probably damaging	Het
Plekhn1	T	C	4: 156,307,116 (GRCm39)	D478G	probably damaging	Het
Pls1	A	T	9: 95,658,616 (GRCm39)	M264K	probably benign	Het
Ptprj	C	A	2: 90,305,340 (GRCm39)		probably benign	Het
Pygm	A	G	19: 6,447,631 (GRCm39)	D646G	probably benign	Het
Rif1	GCCACCA	GCCA	2: 52,000,336 (GRCm39)		probably benign	Het
Scn8a	T	C	15: 100,867,043 (GRCm39)	V283A	probably benign	Het
Shisa5	T	C	9: 108,885,575 (GRCm39)		probably null	Het
Slc10a4	A	G	5: 73,165,848 (GRCm39)	I246V	possibly damaging	Het
Slc1a1	A	T	19: 28,870,312 (GRCm39)	I104F	probably benign	Het
Slc22a8	A	G	19: 8,587,559 (GRCm39)	Y511C	probably benign	Het
Slc6a5	A	G	7: 49,606,210 (GRCm39)	N706S	probably benign	Het
Sos2	T	C	12: 69,697,433 (GRCm39)	K96E	probably damaging	Het
Stom	G	A	2: 35,205,977 (GRCm39)	R251*	probably null	Het
Sycp1	T	C	3: 102,752,382 (GRCm39)	E800G	probably benign	Het
Tab2	G	A	10: 7,783,245 (GRCm39)	P679L	probably damaging	Het
Tiam2	G	A	17: 3,503,657 (GRCm39)	V945I	probably damaging	Het
Trpm5	G	T	7: 142,628,254 (GRCm39)	P1007Q	probably damaging	Het
Uchl1	T	G	5: 66,839,956 (GRCm39)	I139S	probably damaging	Het
Vmn1r232	A	G	17: 21,134,288 (GRCm39)	I104T	possibly damaging	Het
Vmn2r97	G	A	17: 19,167,814 (GRCm39)	M689I	probably benign	Het
Zc3h18	A	T	8: 123,129,904 (GRCm39)		probably benign	Het
Zfhx4	C	T	3: 5,468,418 (GRCm39)	P2859S	probably benign	Het
Zfp456	T	C	13: 67,510,491 (GRCm39)	K99R	probably benign	Het

Other mutations in Or4k1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01101:Or4k1	APN	14	50,377,511 (GRCm39)	missense	probably benign	0.06
IGL02080:Or4k1	APN	14	50,377,579 (GRCm39)	missense	probably damaging	1.00
IGL03187:Or4k1	APN	14	50,377,257 (GRCm39)	missense	probably damaging	0.98
R1613:Or4k1	UTSW	14	50,377,751 (GRCm39)	missense	probably damaging	1.00
R1671:Or4k1	UTSW	14	50,377,290 (GRCm39)	missense	probably damaging	1.00
R1876:Or4k1	UTSW	14	50,377,629 (GRCm39)	missense	probably damaging	0.99
R2085:Or4k1	UTSW	14	50,377,580 (GRCm39)	missense	probably damaging	1.00
R2086:Or4k1	UTSW	14	50,377,580 (GRCm39)	missense	probably damaging	1.00
R2158:Or4k1	UTSW	14	50,377,580 (GRCm39)	missense	probably damaging	1.00
R2226:Or4k1	UTSW	14	50,378,076 (GRCm39)	missense	probably damaging	1.00
R4454:Or4k1	UTSW	14	50,377,953 (GRCm39)	missense	probably benign	0.00
R4714:Or4k1	UTSW	14	50,377,436 (GRCm39)	missense	possibly damaging	0.55
R4754:Or4k1	UTSW	14	50,377,491 (GRCm39)	missense	probably benign	0.02
R4754:Or4k1	UTSW	14	50,377,490 (GRCm39)	missense	possibly damaging	0.90
R5275:Or4k1	UTSW	14	50,377,953 (GRCm39)	missense	probably benign	0.35
R5339:Or4k1	UTSW	14	50,377,759 (GRCm39)	missense	probably damaging	0.96
R6614:Or4k1	UTSW	14	50,377,821 (GRCm39)	missense	probably damaging	1.00
R6713:Or4k1	UTSW	14	50,377,181 (GRCm39)	missense	probably benign
R6900:Or4k1	UTSW	14	50,377,295 (GRCm39)	missense	possibly damaging	0.94
R7062:Or4k1	UTSW	14	50,377,907 (GRCm39)	missense	probably damaging	1.00
R7192:Or4k1	UTSW	14	50,377,577 (GRCm39)	missense	possibly damaging	0.48
R7528:Or4k1	UTSW	14	50,377,277 (GRCm39)	missense	possibly damaging	0.93
R7740:Or4k1	UTSW	14	50,377,803 (GRCm39)	missense	probably benign	0.05
R9198:Or4k1	UTSW	14	50,377,990 (GRCm39)	nonsense	probably null
R9215:Or4k1	UTSW	14	50,377,829 (GRCm39)	missense	probably benign
R9380:Or4k1	UTSW	14	50,377,770 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TCCTCAAGGCTGATTTCACATC -3'
(R):5'- CTTCATTCTGTGAGCCATTTGG -3'

Sequencing Primer
(F):5'- AAGGCTGATTTCACATCTTCATTTC -3'
(R):5'- CGTGCATGGATACGTACA -3'

Posted On

2014-12-04