Mutagenetix > Incidental Mutation

Incidental Mutation 'R2158:Or4k1'

235010

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

040161-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.575) question?

Stock #

R2158 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

50377159-50378094 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 50377580 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Isoleucine at position 172 (N172I)

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: N172I

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

SMART Domains

Protein: ENSMUSP00000052079
Gene: ENSMUSG00000050030
AA Change: N172I

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: N172I

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

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

0.3018

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.6%
20x: 96.0%

Validation Efficiency

100% (59/59)

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: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1810055G02Rik	T	C	19: 3,766,608 (GRCm39)	V65A	possibly damaging	Het
4930402F06Rik	A	T	2: 35,275,680 (GRCm39)	S38T	possibly damaging	Het
Adam4	A	G	12: 81,468,537 (GRCm39)	L28S	probably damaging	Het
Agmo	T	A	12: 37,407,709 (GRCm39)	F198I	probably damaging	Het
Akap7	A	G	10: 25,047,062 (GRCm39)	V45A	probably damaging	Het
Amotl1	G	T	9: 14,486,465 (GRCm39)	N476K	probably benign	Het
Apcs	A	G	1: 172,722,100 (GRCm39)	L82P	probably damaging	Het
Armc3	C	A	2: 19,253,444 (GRCm39)	P195Q	probably damaging	Het
Astn2	A	T	4: 66,322,491 (GRCm39)	L36Q	unknown	Het
Atad2	A	T	15: 57,961,962 (GRCm39)	S870T	possibly damaging	Het
Bmp10	A	T	6: 87,411,062 (GRCm39)	D285V	probably benign	Het
Caskin1	T	C	17: 24,724,128 (GRCm39)	V972A	probably benign	Het
Ccdc141	T	A	2: 76,861,015 (GRCm39)	N921Y	probably damaging	Het
Cntnap5b	A	T	1: 100,318,297 (GRCm39)	D1019V	probably damaging	Het
Eml5	T	C	12: 98,810,205 (GRCm39)		probably benign	Het
Evi5l	T	C	8: 4,243,195 (GRCm39)	Y360H	probably damaging	Het
Ewsr1	A	G	11: 5,041,450 (GRCm39)		probably benign	Het
Fn3k	A	T	11: 121,339,712 (GRCm39)	N158I	probably damaging	Het
Galnt17	C	T	5: 130,935,540 (GRCm39)	R381Q	probably damaging	Het
Golga3	A	T	5: 110,335,227 (GRCm39)	K180N	probably damaging	Het
Hipk1	A	G	3: 103,667,854 (GRCm39)	L571P	probably damaging	Het
Hormad2	T	A	11: 4,374,808 (GRCm39)	K69*	probably null	Het
Hspg2	A	T	4: 137,244,915 (GRCm39)	D880V	probably damaging	Het
Ido2	T	A	8: 25,030,652 (GRCm39)	D226V	probably damaging	Het
Irs3	A	G	5: 137,642,961 (GRCm39)	F159S	probably damaging	Het
Itgb1bp1	T	C	12: 21,326,860 (GRCm39)	T38A	probably damaging	Het
Kif11	A	G	19: 37,399,062 (GRCm39)	I749V	probably benign	Het
Lrp1b	T	G	2: 40,769,567 (GRCm39)	M2811L	probably benign	Het
Lysmd3	A	G	13: 81,817,737 (GRCm39)	Y238C	probably damaging	Het
Mapk11	G	A	15: 89,030,575 (GRCm39)	T106M	probably damaging	Het
Mdga2	C	T	12: 66,736,155 (GRCm39)	V358I	possibly damaging	Het
Muc4	C	T	16: 32,754,563 (GRCm38)	T1479I	probably benign	Het
Myom1	T	C	17: 71,371,592 (GRCm39)	V578A	possibly damaging	Het
Nek10	T	G	14: 14,885,047 (GRCm38)		probably null	Het
Nid2	G	A	14: 19,828,111 (GRCm39)	G516S	probably benign	Het
Or2t47	T	A	11: 58,442,768 (GRCm39)	Q99L	probably damaging	Het
Or51a24	T	G	7: 103,734,033 (GRCm39)	T85P	probably benign	Het
Or51v14	G	C	7: 103,261,443 (GRCm39)	T39R	possibly damaging	Het
Or52a5b	G	T	7: 103,417,168 (GRCm39)	C145*	probably null	Het
Or8d23	T	C	9: 38,841,875 (GRCm39)	M136T	probably damaging	Het
Pde4dip	A	T	3: 97,664,937 (GRCm39)	C333S	probably benign	Het
Pglyrp2	T	A	17: 32,637,222 (GRCm39)	I269F	probably benign	Het
Plch1	A	G	3: 63,628,655 (GRCm39)	V536A	probably benign	Het
Popdc2	T	A	16: 38,183,188 (GRCm39)	L57Q	probably damaging	Het
Pramel14	T	C	4: 143,720,885 (GRCm39)	R19G	possibly damaging	Het
Riox1	A	G	12: 83,997,709 (GRCm39)	K82E	probably benign	Het
Rnasel	G	A	1: 153,630,647 (GRCm39)	V388M	probably damaging	Het
Smc1b	A	G	15: 85,006,052 (GRCm39)		probably benign	Het
Snx25	A	G	8: 46,494,444 (GRCm39)	S814P	probably damaging	Het
Spta1	A	T	1: 174,056,824 (GRCm39)	H1859L	probably benign	Het
Strc	T	C	2: 121,196,343 (GRCm39)	I1562V	probably benign	Het
Taar5	T	A	10: 23,846,986 (GRCm39)	I128N	probably damaging	Het
Ttc28	C	T	5: 111,325,483 (GRCm39)		probably benign	Het
Vcan	A	T	13: 89,851,648 (GRCm39)	M1104K	possibly damaging	Het
Vnn1	C	T	10: 23,776,653 (GRCm39)	Q335*	probably null	Het
Zic1	T	C	9: 91,246,946 (GRCm39)	D42G	possibly 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
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
R9380:Or4k1	UTSW	14	50,377,770 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TGGATGACCCACTAGAGGACTG -3'
(R):5'- CACCGAAGATGCTTGTGGAC -3'

Sequencing Primer
(F):5'- ACTAGAGGACTGCCGTTGGAC -3'
(R):5'- AGGGTTGTATGGCTCAAATATTTC -3'

Posted On

2014-10-01