Mutagenetix > Incidental Mutation

Incidental Mutation 'R7062:Or4k1'

548360

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

045158-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.575) question?

Stock #

R7062 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

50377159-50378094 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 50377907 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 63 (L63P)

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: L63P

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

SMART Domains

Protein: ENSMUSP00000052079
Gene: ENSMUSG00000050030
AA Change: L63P

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: L63P

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: 99.0%

Validation Efficiency

99% (86/87)

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: 85 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc9	T	A	6: 142,544,872 (GRCm39)	D1370V	probably damaging	Het
Ackr1	A	T	1: 173,159,682 (GRCm39)	I279N	possibly damaging	Het
Adcy10	A	G	1: 165,366,091 (GRCm39)	H536R	probably benign	Het
Adgrb3	T	C	1: 25,865,166 (GRCm39)	T226A	possibly damaging	Het
Apol10b	T	A	15: 77,469,473 (GRCm39)	M235L	probably benign	Het
Arhgap44	T	C	11: 64,902,758 (GRCm39)	T570A	probably benign	Het
Astn1	A	G	1: 158,516,081 (GRCm39)		probably null	Het
Camsap3	A	G	8: 3,657,834 (GRCm39)		probably benign	Het
Ccdc73	C	T	2: 104,782,223 (GRCm39)	A193V	probably damaging	Het
Ccl20	G	A	1: 83,095,535 (GRCm39)	C32Y	probably damaging	Het
Cdk11b	A	G	4: 155,711,268 (GRCm39)	E16G	probably damaging	Het
Celsr2	T	A	3: 108,309,826 (GRCm39)	N1591I	possibly damaging	Het
Col5a2	T	C	1: 45,456,785 (GRCm39)	E306G	probably benign	Het
Cpa1	C	T	6: 30,640,676 (GRCm39)	A106V	probably benign	Het
Ctdspl	G	A	9: 118,866,538 (GRCm39)	R199H	probably damaging	Het
Cyfip2	G	A	11: 46,151,659 (GRCm39)	P547S	probably damaging	Het
Cyp2c37	A	T	19: 39,983,990 (GRCm39)		probably null	Het
Dnajc16	A	G	4: 141,494,001 (GRCm39)	F549L	probably damaging	Het
Dnm3	T	A	1: 161,962,060 (GRCm39)	K50*	probably null	Het
Eci1	C	T	17: 24,645,714 (GRCm39)		probably benign	Het
Eif2b4	C	T	5: 31,350,175 (GRCm39)	C49Y	probably benign	Het
Emc3	A	T	6: 113,499,757 (GRCm39)	I56N	probably damaging	Het
Enthd1	A	G	15: 80,336,745 (GRCm39)	L563P	probably damaging	Het
Ercc4	T	A	16: 12,950,811 (GRCm39)	I635K	probably damaging	Het
Espl1	A	C	15: 102,207,331 (GRCm39)	N265T	probably benign	Het
Fads2	T	C	19: 10,042,962 (GRCm39)		probably null	Het
Fam186a	G	A	15: 99,831,521 (GRCm39)		probably benign	Het
Fastkd1	A	T	2: 69,534,666 (GRCm39)	I368K	possibly damaging	Het
Fat1	G	A	8: 45,403,253 (GRCm39)	M1I	probably null	Het
Foxj1	T	C	11: 116,222,819 (GRCm39)	E328G	probably benign	Het
Gfod2	T	C	8: 106,449,508 (GRCm39)		probably benign	Het
Gm6525	C	T	3: 84,082,198 (GRCm39)	R40C	probably benign	Het
Gna12	G	A	5: 140,771,240 (GRCm39)	T144I	probably benign	Het
Ighv9-3	T	C	12: 114,104,712 (GRCm39)	M11V	probably benign	Het
Kcnj14	T	C	7: 45,467,314 (GRCm39)	Y344C	probably damaging	Het
Lrrc63	A	T	14: 75,323,737 (GRCm39)	S496T	probably benign	Het
Ltn1	T	C	16: 87,224,491 (GRCm39)	T78A	probably damaging	Het
Matr3	T	A	18: 35,712,072 (GRCm39)		probably null	Het
Mcpt4	A	G	14: 56,298,125 (GRCm39)	M142T	probably benign	Het
Mroh7	A	G	4: 106,541,177 (GRCm39)	F1154S	probably damaging	Het
Mrpl1	G	T	5: 96,361,650 (GRCm39)	L12F	probably benign	Het
Myo3b	G	A	2: 70,047,501 (GRCm39)	V308I	probably benign	Het
Nfasc	A	G	1: 132,529,707 (GRCm39)		probably null	Het
Npc1l1	T	A	11: 6,167,807 (GRCm39)	M995L	probably benign	Het
Nvl	A	G	1: 180,939,899 (GRCm39)	I617T	probably benign	Het
Oas1h	C	A	5: 120,999,528 (GRCm39)		probably benign	Het
Oasl2	T	A	5: 115,049,152 (GRCm39)	Y197*	probably null	Het
Or52ab7	T	C	7: 102,978,293 (GRCm39)	V200A	probably benign	Het
Or5an1c	T	C	19: 12,218,089 (GRCm39)	N312S	probably benign	Het
Or5l13	T	C	2: 87,780,568 (GRCm39)	E3G	probably benign	Het
Or5p70	C	T	7: 107,995,037 (GRCm39)	R237*	probably null	Het
Or8g35	A	T	9: 39,381,353 (GRCm39)	I223N	probably benign	Het
Orc6	T	C	8: 86,029,537 (GRCm39)	V27A	probably damaging	Het
Parp4	A	T	14: 56,852,216 (GRCm39)	R799S	possibly damaging	Het
Pcdhga1	C	A	18: 37,958,130 (GRCm39)	S826R	probably damaging	Het
Phldb1	T	C	9: 44,607,432 (GRCm39)	R1258G	probably damaging	Het
Ppfia1	T	C	7: 144,106,210 (GRCm39)	S21G	probably benign	Het
Ppp1r18	C	A	17: 36,179,103 (GRCm39)	T326K	probably damaging	Het
Psg26	A	G	7: 18,216,521 (GRCm39)	L106P	probably damaging	Het
Rabgap1l	A	T	1: 160,054,220 (GRCm39)	D265E	probably benign	Het
Rasgrp4	T	C	7: 28,849,619 (GRCm39)	L554P	possibly damaging	Het
Rnf17	G	T	14: 56,703,111 (GRCm39)	V621L	probably benign	Het
Sart3	T	C	5: 113,883,663 (GRCm39)	K783R	possibly damaging	Het
Slc23a2	T	A	2: 131,933,189 (GRCm39)	I90F	probably damaging	Het
Slc5a2	A	T	7: 127,869,212 (GRCm39)	M331L	probably damaging	Het
Slc5a7	C	G	17: 54,600,029 (GRCm39)	G128A	probably damaging	Het
Smcr8	A	T	11: 60,671,180 (GRCm39)	Q776L	probably damaging	Het
Smpd4	T	A	16: 17,458,835 (GRCm39)	D519E	probably damaging	Het
Smurf1	A	T	5: 144,830,356 (GRCm39)		probably null	Het
Spata18	T	A	5: 73,816,636 (GRCm39)	N125K	probably benign	Het
Spice1	T	A	16: 44,178,259 (GRCm39)	M94K	probably damaging	Het
Stard4	T	C	18: 33,338,587 (GRCm39)		probably null	Het
Stx17	A	G	4: 48,140,442 (GRCm39)	D49G	probably benign	Het
Tbce	T	C	13: 14,194,380 (GRCm39)	D93G	possibly damaging	Het
Tbx21	T	A	11: 96,989,719 (GRCm39)	D491V	probably damaging	Het
Tmbim4	G	T	10: 120,044,731 (GRCm39)		probably benign	Het
Tmem209	C	T	6: 30,502,016 (GRCm39)	R62H	probably damaging	Het
Tmem237	A	T	1: 59,158,771 (GRCm39)		probably null	Het
Tmprss9	T	C	10: 80,730,883 (GRCm39)	I803T	probably benign	Het
Trip4	C	T	9: 65,792,292 (GRCm39)	A7T	probably benign	Het
Unc13a	T	C	8: 72,115,881 (GRCm39)	D107G	probably benign	Het
Uso1	C	A	5: 92,340,599 (GRCm39)	Q672K	possibly damaging	Het
Washc2	T	A	6: 116,196,949 (GRCm39)	N239K	possibly damaging	Het
Zfp661	A	G	2: 127,419,040 (GRCm39)	C367R	probably damaging	Het
Znrf3	T	A	11: 5,231,550 (GRCm39)	E558D	probably damaging	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
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'- CATAATTAGATTGTAGTGCAGTGGC -3'
(R):5'- GGCTCACAATAATGAATCCACGG -3'

Sequencing Primer
(F):5'- GCAGTGGCTTACATATTGCTAC -3'
(R):5'- ATGAATCCACGGTATCTGAGTTTG -3'

Posted On

2019-05-13