Mutagenetix > Incidental Mutation

Incidental Mutation 'R9380:Or4k1'

709971

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

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.512) question?

Stock #

R9380 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

50377159-50378094 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 50377770 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glycine to Tryptophan at position 109 (G109W)

Ref Sequence

ENSEMBL: ENSMUSP00000149796 (fasta)

Gene Model

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

AlphaFold

Q7TRM6

Predicted Effect

probably damaging
Transcript: ENSMUST00000051563
AA Change: G109W

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

SMART Domains

Protein: ENSMUSP00000052079
Gene: ENSMUSG00000050030
AA Change: G109W

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 damaging
Transcript: ENSMUST00000213685
AA Change: G109W

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

Predicted Effect

probably benign
Transcript: ENSMUST00000215327

Predicted Effect

probably benign
Transcript: ENSMUST00000215451

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.8%

Validation Efficiency

100% (79/79)

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: 78 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acsl3	T	G	1: 78,659,602 (GRCm39)	C85G	possibly damaging	Het
Alox12e	A	T	11: 70,206,994 (GRCm39)		probably null	Het
Aoc1l2	T	C	6: 48,910,064 (GRCm39)	I667T	probably damaging	Het
Asb10	A	C	5: 24,739,103 (GRCm39)		probably null	Het
B3galt9	G	A	2: 34,729,029 (GRCm39)	C276Y	probably damaging	Het
Bcl2a1d	G	A	9: 88,613,935 (GRCm39)		probably benign	Het
Camsap3	A	T	8: 3,653,999 (GRCm39)	K556N	probably benign	Het
Cd300lf	T	A	11: 115,015,153 (GRCm39)	T146S	probably benign	Het
Chuk	C	A	19: 44,062,958 (GRCm39)	A744S	unknown	Het
Clint1	A	T	11: 45,742,988 (GRCm39)	M4L	probably benign	Het
Cnot4	T	C	6: 35,029,865 (GRCm39)	I344M	possibly damaging	Het
Cpne1	T	C	2: 155,920,721 (GRCm39)	D135G	probably benign	Het
Csgalnact2	C	A	6: 118,105,840 (GRCm39)	L159F	probably damaging	Het
Dnai2	T	C	11: 114,635,989 (GRCm39)	F325L	probably benign	Het
Dnal4	G	A	15: 79,647,790 (GRCm39)	S25L	possibly damaging	Het
Ep300	T	C	15: 81,500,245 (GRCm39)	M515T	unknown	Het
Ewsr1	T	C	11: 5,043,730 (GRCm39)	Y18C	possibly damaging	Het
Fam25a	T	C	14: 34,073,957 (GRCm39)	T72A	possibly damaging	Het
Flii	T	C	11: 60,606,297 (GRCm39)	Y1131C	probably benign	Het
Foxj1	C	T	11: 116,222,547 (GRCm39)	A419T	possibly damaging	Het
Fsd1l	A	G	4: 53,693,991 (GRCm39)	T323A	possibly damaging	Het
Furin	T	C	7: 80,041,506 (GRCm39)	I551V	probably benign	Het
Gbp11	A	G	5: 105,475,202 (GRCm39)	V382A	probably benign	Het
Gfod1	A	C	13: 43,354,320 (GRCm39)	D218E	probably damaging	Het
Glp2r	A	T	11: 67,637,572 (GRCm39)	I153N	possibly damaging	Het
Gm11214	G	T	4: 63,580,850 (GRCm39)	P100T	possibly damaging	Het
Gne	A	T	4: 44,066,807 (GRCm39)	F69I	probably benign	Het
Hsd3b2	T	C	3: 98,619,453 (GRCm39)	K164R	probably damaging	Het
Hspa1b	T	C	17: 35,177,170 (GRCm39)	R272G	probably damaging	Het
Hydin	C	A	8: 111,290,504 (GRCm39)	T3321N	probably benign	Het
Impg1	A	T	9: 80,289,077 (GRCm39)	S327T	probably benign	Het
Izumo2	T	C	7: 44,364,812 (GRCm39)	V159A	probably benign	Het
Kat6b	T	C	14: 21,678,926 (GRCm39)	S430P	probably damaging	Het
Kcnj9	T	A	1: 172,153,447 (GRCm39)	T226S	probably benign	Het
Kl	T	A	5: 150,912,342 (GRCm39)	M697K	possibly damaging	Het
Krt1	AAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCAC	AAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCAC	15: 101,758,813 (GRCm39)		probably benign	Het
Lrrk1	G	A	7: 65,928,331 (GRCm39)	P1266S	probably damaging	Het
Med13	A	T	11: 86,177,598 (GRCm39)	N1499K	probably benign	Het
Mybbp1a	A	G	11: 72,333,668 (GRCm39)	I182V	probably benign	Het
Nicn1	C	T	9: 108,171,708 (GRCm39)	R163C	possibly damaging	Het
Nin	A	G	12: 70,074,805 (GRCm39)	L1859P		Het
Nlrp4e	C	G	7: 23,020,755 (GRCm39)	A414G	probably benign	Het
Or2y10	A	G	11: 49,454,904 (GRCm39)	D52G	possibly damaging	Het
Or4a67	A	T	2: 88,598,530 (GRCm39)	I43N	probably damaging	Het
Or8b50	A	G	9: 38,518,415 (GRCm39)	Y218C	probably damaging	Het
Osbpl8	T	A	10: 111,108,980 (GRCm39)	S421T	probably damaging	Het
Paqr7	A	G	4: 134,234,350 (GRCm39)	N69S	probably damaging	Het
Pcare	A	T	17: 72,056,351 (GRCm39)	S1109T	possibly damaging	Het
Pdgfrb	G	A	18: 61,197,920 (GRCm39)	G231D	probably damaging	Het
Pip5k1b	A	G	19: 24,356,417 (GRCm39)	Y174H	probably damaging	Het
Pkd1	T	A	17: 24,769,262 (GRCm39)	L9Q	unknown	Het
Psmg4	A	T	13: 34,350,080 (GRCm39)	T71S	probably benign	Het
Ptpn23	A	G	9: 110,221,581 (GRCm39)	I173T	possibly damaging	Het
Qser1	G	A	2: 104,619,691 (GRCm39)	Q284*	probably null	Het
Rcc2	G	T	4: 140,429,702 (GRCm39)	A79S	probably benign	Het
Rgl3	G	T	9: 21,888,123 (GRCm39)	Q464K	probably damaging	Het
Rhov	C	A	2: 119,100,604 (GRCm39)	R211L	probably benign	Het
Rp1l1	A	G	14: 64,266,475 (GRCm39)	D687G	probably benign	Het
Selenbp2	A	G	3: 94,609,654 (GRCm39)	I291V	probably benign	Het
Sh3glb2	A	T	2: 30,238,625 (GRCm39)	V189E	probably damaging	Het
Slc46a2	A	G	4: 59,913,867 (GRCm39)	I352T	probably damaging	Het
Sucla2	T	A	14: 73,828,312 (GRCm39)	N306K	probably benign	Het
Suco	A	G	1: 161,646,074 (GRCm39)	V1209A	possibly damaging	Het
Tacc2	T	A	7: 130,226,771 (GRCm39)	L1152Q	possibly damaging	Het
Tanc1	A	T	2: 59,665,796 (GRCm39)	K1185M	probably damaging	Het
Tas2r114	A	G	6: 131,666,381 (GRCm39)	F216L	probably benign	Het
Tead1	A	T	7: 112,441,105 (GRCm39)	H78L	possibly damaging	Het
Tex12	T	C	9: 50,469,586 (GRCm39)	I64V	possibly damaging	Het
Thap1	CAGCATCTGCTCGGAGCA	CAGCA	8: 26,650,884 (GRCm39)		probably null	Het
Trank1	A	G	9: 111,221,738 (GRCm39)	E2825G	probably benign	Het
Trappc13	T	A	13: 104,280,707 (GRCm39)	Y399F	probably damaging	Het
Trim21	T	C	7: 102,212,992 (GRCm39)	D102G	probably damaging	Het
Trim27	G	T	13: 21,364,680 (GRCm39)	V6L	probably benign	Het
Trim55	A	G	3: 19,728,559 (GRCm39)	T457A	probably benign	Het
Trrap	A	G	5: 144,769,981 (GRCm39)	E2716G	probably benign	Het
Usp10	T	G	8: 120,682,943 (GRCm39)	L712R	probably damaging	Het
Vldlr	T	A	19: 27,216,192 (GRCm39)	C338S	possibly damaging	Het
Zfp946	A	G	17: 22,673,680 (GRCm39)	I145V	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
R2516:Or4k1	UTSW	14	50,377,440 (GRCm39)	missense	probably benign
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

Predicted Primers

PCR Primer
(F):5'- CCACAGAATGGCAGATTCACTG -3'
(R):5'- TCATCTATGTGACATCAGTCTTGGG -3'

Sequencing Primer
(F):5'- CAGATTCACTGTAAATGCCAAATGG -3'
(R):5'- GTGACATCAGTCTTGGGCAATATC -3'

Posted On

2022-04-18