Mutagenetix > Incidental Mutation

Incidental Mutation 'R7174:Or4k2'

558510

Institutional Source

Beutler Lab

Gene Symbol

Or4k2

Ensembl Gene

ENSMUSG00000109835

Gene Name

olfactory receptor family 4 subfamily K member 2

Synonyms

MOR247-1, Olfr730, GA_x6K02T2PMLR-5881670-5880717

MMRRC Submission

045266-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.191) question?

Stock #

R7174 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

50423719-50424675 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 50424153 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 175 (I175V)

Ref Sequence

ENSEMBL: ENSMUSP00000060325 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000051453] [ENSMUST00000205837]

AlphaFold

E9Q8M3

Predicted Effect

probably benign
Transcript: ENSMUST00000051453
AA Change: I175V

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000060325
Gene: ENSMUSG00000109835
AA Change: I175V

Domain	Start	End	E-Value	Type
Pfam:7tm_4	32	305	3.4e-44	PFAM
Pfam:7tm_1	42	288	1.2e-17	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000205837
AA Change: I174V

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

Coding Region Coverage

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

Validation Efficiency

97% (61/63)

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: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700018F24Rik	C	A	5: 144,981,627 (GRCm39)	A154E	probably benign	Het
Adamts1	C	A	16: 85,596,060 (GRCm39)	A419S	probably benign	Het
Arap2	C	G	5: 62,761,621 (GRCm39)	V1702L	probably benign	Het
Arpc1a	C	T	5: 145,034,087 (GRCm39)	P152S	probably benign	Het
Bbs10	T	A	10: 111,136,628 (GRCm39)	C580*	probably null	Het
Bcam	A	G	7: 19,499,376 (GRCm39)	Y216H	probably damaging	Het
C2cd3	T	C	7: 100,081,405 (GRCm39)	S1016P		Het
Card6	TTGGGAGGACTGTGGATGAGAGGGCTTAGCATGGGAGGACTGTGGATGAGAGGGCTTAGCATGGGAGGACTGTGGATGAGAGGGCTTAGCATGGGAGGACTGCGGATGAGAGGGCTTAGCATGGGAGGACTG	TTGGGAGGACTGTGGATGAGAGGGCTTAGCATGGGAGGACTGTGGATGAGAGGGCTTAGCATGGGAGGACTGCGGATGAGAGGGCTTAGCATGGGAGGACTG	15: 5,128,173 (GRCm39)		probably benign	Het
Cd86	CA	CAA	16: 36,426,917 (GRCm39)		probably null	Het
Ceacam5	T	A	7: 17,491,839 (GRCm39)		probably null	Het
Cfap57	A	G	4: 118,446,264 (GRCm39)	V666A	probably benign	Het
Cntn3	A	G	6: 102,142,305 (GRCm39)	F1021L	probably benign	Het
Cr1l	C	T	1: 194,811,497 (GRCm39)	G119D	probably benign	Het
Fgf10	A	T	13: 118,851,942 (GRCm39)	H8L	probably benign	Het
Fras1	T	A	5: 96,903,436 (GRCm39)		probably null	Het
Frem1	G	T	4: 82,840,493 (GRCm39)	T1811N	probably benign	Het
Fsd1	A	T	17: 56,298,356 (GRCm39)	Q227L	probably benign	Het
Galk2	A	G	2: 125,738,621 (GRCm39)	I138M	probably damaging	Het
Igkv8-30	A	G	6: 70,094,582 (GRCm39)	V7A	possibly damaging	Het
Katnb1	G	A	8: 95,824,069 (GRCm39)	A450T	probably benign	Het
Kif14	A	T	1: 136,448,995 (GRCm39)	E1465V	possibly damaging	Het
Klra3	A	T	6: 130,312,941 (GRCm39)		probably null	Het
Krt9	TCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCC	TCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCC	11: 100,079,903 (GRCm39)		probably benign	Het
Lepr	A	G	4: 101,607,535 (GRCm39)	N251S	probably benign	Het
Lrp2	T	C	2: 69,263,416 (GRCm39)	M4379V	probably benign	Het
Lrriq1	T	C	10: 103,060,826 (GRCm39)	N92S	probably benign	Het
Map3k13	A	G	16: 21,745,006 (GRCm39)	N855S	probably damaging	Het
Marf1	T	A	16: 13,954,817 (GRCm39)	D900V	probably damaging	Het
Nckap5l	A	T	15: 99,321,884 (GRCm39)	M1087K	probably benign	Het
Nlrp9c	T	C	7: 26,084,722 (GRCm39)	N286D	probably benign	Het
Or12j4	T	C	7: 140,047,076 (GRCm39)	*321Q	probably null	Het
Or13c7d	C	T	4: 43,770,691 (GRCm39)	A107T	not run	Het
Or51ah3	A	T	7: 103,210,598 (GRCm39)	R305*	probably null	Het
Or5g9	C	T	2: 85,552,297 (GRCm39)	P183S	possibly damaging	Het
Or5p72	T	A	7: 108,022,367 (GRCm39)	S196R	probably benign	Het
Pcdhga3	A	G	18: 37,808,980 (GRCm39)	T478A	probably benign	Het
Pdgfrb	T	C	18: 61,199,587 (GRCm39)	I385T	probably benign	Het
Poteg	C	T	8: 27,943,305 (GRCm39)	R192W	probably benign	Het
Prmt2	G	T	10: 76,061,173 (GRCm39)	D104E	probably benign	Het
Rgl2	T	C	17: 34,153,964 (GRCm39)	F457L	possibly damaging	Het
Rlbp1	T	C	7: 79,027,090 (GRCm39)	N190S	possibly damaging	Het
Ryr2	T	C	13: 11,816,063 (GRCm39)	D641G	possibly damaging	Het
Sh3gl1	A	T	17: 56,324,846 (GRCm39)	M303K	probably benign	Het
Slc26a5	A	G	5: 22,018,892 (GRCm39)	V649A	probably damaging	Het
Slco4c1	T	C	1: 96,765,323 (GRCm39)	N376D	possibly damaging	Het
Socs3	A	T	11: 117,858,553 (GRCm39)	Y168*	probably null	Het
Spata31d1d	A	T	13: 59,876,394 (GRCm39)	N380K	possibly damaging	Het
Speer1c	T	C	5: 10,295,237 (GRCm39)	K56E	probably damaging	Het
Ssbp3	A	G	4: 106,894,843 (GRCm39)	N254S	probably benign	Het
Stard10	C	T	7: 100,995,226 (GRCm39)	S326L	probably damaging	Het
Taf2	T	C	15: 54,912,135 (GRCm39)	D524G	possibly damaging	Het
Taf7	A	T	18: 37,776,053 (GRCm39)	S171R	probably damaging	Het
Tchh	C	T	3: 93,353,478 (GRCm39)	R973C	unknown	Het
Tmem67	T	C	4: 12,077,337 (GRCm39)	R172G	possibly damaging	Het
Top2a	C	A	11: 98,914,922 (GRCm39)		probably benign	Het
Ttc8	T	A	12: 98,940,960 (GRCm39)	N323K	possibly damaging	Het
Txnl1	T	C	18: 63,804,667 (GRCm39)	N276D	probably benign	Het
Usp24	T	G	4: 106,219,878 (GRCm39)		probably null	Het
Vmn1r18	A	C	6: 57,366,609 (GRCm39)		probably null	Het
Vmn2r53	A	T	7: 12,315,628 (GRCm39)	H730Q	probably benign	Het
Wnk1	A	C	6: 119,947,939 (GRCm39)	I500M	probably damaging	Het
Zfp335	A	T	2: 164,744,423 (GRCm39)	Y451N	probably damaging	Het
Zfp683	T	A	4: 133,783,064 (GRCm39)	I176N	probably damaging	Het

Other mutations in Or4k2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01998:Or4k2	APN	14	50,424,105 (GRCm39)	missense	probably benign	0.36
IGL02976:Or4k2	APN	14	50,423,889 (GRCm39)	nonsense	probably null
IGL03065:Or4k2	APN	14	50,424,465 (GRCm39)	missense	probably damaging	1.00
IGL03122:Or4k2	APN	14	50,424,461 (GRCm39)	missense	probably damaging	0.98
R0277:Or4k2	UTSW	14	50,423,789 (GRCm39)	missense	probably null	0.06
R1081:Or4k2	UTSW	14	50,424,654 (GRCm39)	missense	probably damaging	1.00
R1189:Or4k2	UTSW	14	50,424,539 (GRCm39)	missense	probably damaging	0.99
R1501:Or4k2	UTSW	14	50,424,539 (GRCm39)	missense	probably damaging	0.99
R2680:Or4k2	UTSW	14	50,424,304 (GRCm39)	nonsense	probably null
R2869:Or4k2	UTSW	14	50,423,811 (GRCm39)	missense	probably benign	0.08
R2869:Or4k2	UTSW	14	50,423,811 (GRCm39)	missense	probably benign	0.08
R3415:Or4k2	UTSW	14	50,424,069 (GRCm39)	missense	possibly damaging	0.60
R3417:Or4k2	UTSW	14	50,424,069 (GRCm39)	missense	possibly damaging	0.60
R3721:Or4k2	UTSW	14	50,424,137 (GRCm39)	missense	probably damaging	1.00
R4864:Or4k2	UTSW	14	50,424,039 (GRCm39)	missense	probably damaging	0.97
R5037:Or4k2	UTSW	14	50,423,745 (GRCm39)	missense	probably benign	0.00
R5349:Or4k2	UTSW	14	50,424,230 (GRCm39)	nonsense	probably null
R5738:Or4k2	UTSW	14	50,424,105 (GRCm39)	missense	probably benign	0.09
R5779:Or4k2	UTSW	14	50,424,203 (GRCm39)	missense	possibly damaging	0.82
R5853:Or4k2	UTSW	14	50,424,326 (GRCm39)	missense	possibly damaging	0.88
R5918:Or4k2	UTSW	14	50,424,425 (GRCm39)	missense	probably benign
R6166:Or4k2	UTSW	14	50,424,225 (GRCm39)	missense	probably benign
R6196:Or4k2	UTSW	14	50,424,135 (GRCm39)	missense	probably damaging	1.00
R6218:Or4k2	UTSW	14	50,424,135 (GRCm39)	missense	probably damaging	1.00
R6220:Or4k2	UTSW	14	50,424,135 (GRCm39)	missense	probably damaging	1.00
R6561:Or4k2	UTSW	14	50,423,775 (GRCm39)	missense	probably damaging	1.00
R6798:Or4k2	UTSW	14	50,424,584 (GRCm39)	missense	probably benign	0.00
R6834:Or4k2	UTSW	14	50,423,940 (GRCm39)	missense	probably benign	0.12
R7406:Or4k2	UTSW	14	50,424,015 (GRCm39)	missense	probably damaging	0.97
R7592:Or4k2	UTSW	14	50,424,020 (GRCm39)	missense	probably damaging	1.00
R7886:Or4k2	UTSW	14	50,424,021 (GRCm39)	missense	probably damaging	1.00
R8081:Or4k2	UTSW	14	50,423,825 (GRCm39)	missense	probably damaging	1.00
R8280:Or4k2	UTSW	14	50,423,723 (GRCm39)	nonsense	probably null
R8393:Or4k2	UTSW	14	50,424,342 (GRCm39)	nonsense	probably null
R8526:Or4k2	UTSW	14	50,423,719 (GRCm39)	splice site	probably null
R8683:Or4k2	UTSW	14	50,424,203 (GRCm39)	missense	possibly damaging	0.82
R8936:Or4k2	UTSW	14	50,423,999 (GRCm39)	missense	possibly damaging	0.82
R9285:Or4k2	UTSW	14	50,424,122 (GRCm39)	missense	probably benign	0.40
X0023:Or4k2	UTSW	14	50,424,658 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AAGAGCCTTAGATGATCCTTTGG -3'
(R):5'- CCACCTGTTCACTGGTACTG -3'

Sequencing Primer
(F):5'- GCCTTAGATGATCCTTTGGAAGAATG -3'
(R):5'- ATAAGTCCCCAGGTGTGT -3'

Posted On

2019-06-26