Mutagenetix > Incidental Mutation

Incidental Mutation 'R5260:Or4k52'

401351

Institutional Source

Beutler Lab

Gene Symbol

Or4k52

Ensembl Gene

ENSMUSG00000044560

Gene Name

olfactory receptor family 4 subfamily K member 52

Synonyms

Olfr1302, GA_x6K02T2Q125-72831562-72832500, MOR248-3

MMRRC Submission

042829-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.058) question?

Stock #

R5260 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

111610658-111611605 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 111611526 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 287 (Y287C)

Ref Sequence

ENSEMBL: ENSMUSP00000150896 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000054004] [ENSMUST00000119566] [ENSMUST00000214708] [ENSMUST00000215244]

AlphaFold

Q8VGE9

Predicted Effect

probably damaging
Transcript: ENSMUST00000054004
AA Change: Y290C

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

SMART Domains

Protein: ENSMUSP00000061674
Gene: ENSMUSG00000044560
AA Change: Y290C

Domain	Start	End	E-Value	Type
Pfam:7tm_4	34	308	2.4e-49	PFAM
Pfam:7tm_1	44	290	8.1e-19	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000119566
AA Change: Y287C

Predicted Effect

probably damaging
Transcript: ENSMUST00000214708
AA Change: Y287C

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000215244
AA Change: Y287C

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

Meta Mutation Damage Score

0.7766

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.1%
20x: 95.0%

Validation Efficiency

99% (77/78)

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: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abraxas2	A	T	7: 132,461,003 (GRCm39)	I14F	probably damaging	Het
Acin1	T	C	14: 54,880,279 (GRCm39)		probably benign	Het
Adamts9	C	A	6: 92,784,118 (GRCm39)	V1579L	probably benign	Het
Adra2a	T	A	19: 54,035,039 (GRCm39)	C132S	probably damaging	Het
Aif1	T	A	17: 35,390,917 (GRCm39)		probably null	Het
Atf5	A	T	7: 44,464,510 (GRCm39)	Y27*	probably null	Het
Atm	A	G	9: 53,417,911 (GRCm39)	S799P	probably damaging	Het
Bmp2k	T	G	5: 97,235,210 (GRCm39)		probably benign	Het
Chaf1a	C	T	17: 56,372,000 (GRCm39)	H723Y	probably damaging	Het
Clint1	T	C	11: 45,798,769 (GRCm39)	W493R	probably damaging	Het
Cyb561a3	T	A	19: 10,565,230 (GRCm39)	V198D	possibly damaging	Het
Cyp2j8	T	C	4: 96,389,301 (GRCm39)	E174G	possibly damaging	Het
Cyp4v3	C	T	8: 45,760,017 (GRCm39)	G512S	probably damaging	Het
Dnah8	T	A	17: 30,919,393 (GRCm39)	V1122D	probably benign	Het
Doc2b	C	A	11: 75,676,989 (GRCm39)	G128V	probably damaging	Het
Dysf	T	C	6: 84,127,016 (GRCm39)	V1378A	probably damaging	Het
Efcab5	A	T	11: 77,028,477 (GRCm39)	S421T	possibly damaging	Het
Efcab6	T	G	15: 83,829,324 (GRCm39)	D672A	probably benign	Het
Eif2ak3	C	A	6: 70,870,113 (GRCm39)	H933Q	probably damaging	Het
Erc1	A	T	6: 119,738,120 (GRCm39)	N574K	probably damaging	Het
Eri2	A	T	7: 119,387,069 (GRCm39)		probably benign	Het
Faxc	A	G	4: 21,948,744 (GRCm39)	Y152C	probably damaging	Het
Fbxl7	T	A	15: 26,543,585 (GRCm39)	Y354F	probably damaging	Het
Fras1	T	A	5: 96,883,046 (GRCm39)	I2526N	possibly damaging	Het
Gm5424	A	T	10: 61,907,374 (GRCm39)		noncoding transcript	Het
Gm6728	T	C	6: 136,463,701 (GRCm39)		noncoding transcript	Het
Golgb1	A	T	16: 36,733,503 (GRCm39)	S917C	probably benign	Het
Gtpbp3	T	C	8: 71,942,062 (GRCm39)		probably benign	Het
Gusb	A	T	5: 130,028,829 (GRCm39)	Y220*	probably null	Het
Gvin3	A	G	7: 106,198,411 (GRCm39)		noncoding transcript	Het
Hmcn1	A	G	1: 150,471,612 (GRCm39)	V4914A	possibly damaging	Het
Iars2	C	A	1: 185,055,931 (GRCm39)	C211F	probably damaging	Het
Kif5b	A	G	18: 6,211,058 (GRCm39)	L802P	probably damaging	Het
Kif5c	A	G	2: 49,625,602 (GRCm39)	E624G	probably damaging	Het
Kmt2d	G	T	15: 98,740,741 (GRCm39)		probably benign	Het
Krt82	C	A	15: 101,456,823 (GRCm39)	G186C	possibly damaging	Het
Lca5	G	A	9: 83,305,276 (GRCm39)	R177C	probably damaging	Het
Mab21l4	A	T	1: 93,087,700 (GRCm39)	V51E	probably damaging	Het
Mier1	T	C	4: 103,019,907 (GRCm39)	S318P	probably benign	Het
Obscn	A	T	11: 58,894,195 (GRCm39)	I1207N	probably damaging	Het
Oog4	C	T	4: 143,164,424 (GRCm39)	G369D	probably benign	Het
Or4c126	A	G	2: 89,824,526 (GRCm39)	D263G	probably damaging	Het
Or52d13	A	G	7: 103,109,822 (GRCm39)	F198L	probably benign	Het
Or5d35	A	C	2: 87,855,818 (GRCm39)	I251L	probably benign	Het
Plec	T	C	15: 76,060,824 (GRCm39)	T3060A	probably damaging	Het
Plekhh2	C	T	17: 84,884,593 (GRCm39)	T769I	probably damaging	Het
Prkaa1	A	T	15: 5,190,149 (GRCm39)	S65C	probably damaging	Het
Psma3	T	C	12: 71,031,416 (GRCm39)		probably benign	Het
Ptpn18	T	A	1: 34,502,591 (GRCm39)		probably benign	Het
Ptprv	T	C	1: 135,039,998 (GRCm39)		noncoding transcript	Het
Rac1	C	A	5: 143,493,886 (GRCm39)	V104L	probably benign	Het
Serpinb7	A	T	1: 107,362,479 (GRCm39)	N61I	possibly damaging	Het
Sirt7	A	C	11: 120,511,347 (GRCm39)		probably benign	Het
Srl	G	A	16: 4,300,759 (GRCm39)	R333*	probably null	Het
Srprb	A	T	9: 103,079,119 (GRCm39)	L756Q	probably damaging	Het
Tchhl1	T	C	3: 93,378,102 (GRCm39)	S269P	probably damaging	Het
Tdo2	C	T	3: 81,882,630 (GRCm39)		probably null	Het
Teddm1a	T	C	1: 153,767,646 (GRCm39)	Y37H	probably benign	Het
Tenm3	T	C	8: 48,689,890 (GRCm39)	Y1899C	probably damaging	Het
Tep1	T	C	14: 51,076,088 (GRCm39)	T1681A	probably benign	Het
Timm44	G	T	8: 4,325,919 (GRCm39)		probably null	Het
Trp73	A	G	4: 154,147,059 (GRCm39)	V322A	possibly damaging	Het
Tsr1	A	C	11: 74,796,781 (GRCm39)	E611A	probably damaging	Het
Unc80	A	G	1: 66,685,746 (GRCm39)	N2290S	possibly damaging	Het
Ush2a	T	C	1: 188,679,276 (GRCm39)	V4828A	possibly damaging	Het
Vps51	T	G	19: 6,121,063 (GRCm39)	E283D	probably benign	Het
Wnt9b	C	A	11: 103,622,875 (GRCm39)	S176I	possibly damaging	Het
Zfp329	A	G	7: 12,540,453 (GRCm39)		probably benign	Het
Zfp352	T	A	4: 90,112,697 (GRCm39)	V279D	probably damaging	Het
Zfp932	C	T	5: 110,157,501 (GRCm39)	Q400*	probably null	Het
Zxdc	T	A	6: 90,359,075 (GRCm39)	L569Q	probably damaging	Het

Other mutations in Or4k52

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01354:Or4k52	APN	2	111,611,246 (GRCm39)	missense	possibly damaging	0.80
IGL01604:Or4k52	APN	2	111,610,935 (GRCm39)	missense	possibly damaging	0.60
IGL02959:Or4k52	APN	2	111,610,955 (GRCm39)	missense	probably damaging	1.00
IGL02975:Or4k52	APN	2	111,611,266 (GRCm39)	nonsense	probably null
IGL03357:Or4k52	APN	2	111,610,871 (GRCm39)	missense	probably benign	0.01
R0245:Or4k52	UTSW	2	111,610,680 (GRCm39)	missense	probably damaging	1.00
R1522:Or4k52	UTSW	2	111,610,693 (GRCm39)	splice site	probably null
R2126:Or4k52	UTSW	2	111,610,841 (GRCm39)	missense	probably damaging	0.99
R2432:Or4k52	UTSW	2	111,611,016 (GRCm39)	missense	probably benign	0.01
R4780:Or4k52	UTSW	2	111,611,190 (GRCm39)	missense	probably damaging	1.00
R5517:Or4k52	UTSW	2	111,610,804 (GRCm39)	missense	probably benign
R6273:Or4k52	UTSW	2	111,611,567 (GRCm39)	missense	probably benign	0.00
R7315:Or4k52	UTSW	2	111,611,004 (GRCm39)	missense	probably damaging	0.96
R7740:Or4k52	UTSW	2	111,610,793 (GRCm39)	missense	possibly damaging	0.94
R8742:Or4k52	UTSW	2	111,610,910 (GRCm39)	missense	probably benign	0.03
R8891:Or4k52	UTSW	2	111,611,186 (GRCm39)	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- TAAGGCTGGGGCATCTAAGG -3'
(R):5'- TAAATCAGAATGTTGTGGTGGC -3'

Sequencing Primer
(F):5'- ATCTAAGGCCCTGTCCACGTG -3'
(R):5'- CCTATATCTGAAATGGGAGGTGGC -3'

Posted On

2016-07-06