Mutagenetix > Incidental Mutation

Incidental Mutation 'R0245:Or4k52'

36142

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

038483-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.062) question?

Stock #

R0245 (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 111610680 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 5 (N5S)

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: N8S

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000061674
Gene: ENSMUSG00000044560
AA Change: N8S

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: N5S

Predicted Effect

probably damaging
Transcript: ENSMUST00000214708
AA Change: N5S

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

Predicted Effect

probably damaging
Transcript: ENSMUST00000215244
AA Change: N5S

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

Meta Mutation Damage Score

0.2630

Coding Region Coverage

1x: 99.4%
3x: 98.6%
10x: 96.7%
20x: 93.9%

Validation Efficiency

99% (73/74)

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: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310022B05Rik	A	G	8: 125,378,168 (GRCm39)		probably benign	Het
Actmap	T	A	7: 26,900,028 (GRCm39)	C98S	possibly damaging	Het
Adgrg6	T	A	10: 14,333,810 (GRCm39)		probably benign	Het
Adra2a	G	C	19: 54,035,840 (GRCm39)	V399L	probably damaging	Het
Arpc1b	A	G	5: 145,063,670 (GRCm39)	D306G	probably damaging	Het
Asic3	C	A	5: 24,618,836 (GRCm39)	R43S	probably damaging	Het
Astn2	T	C	4: 65,712,795 (GRCm39)	D615G	probably damaging	Het
Btbd2	A	T	10: 80,483,640 (GRCm39)	Y178N	probably damaging	Het
Cacna1c	T	C	6: 118,581,415 (GRCm39)	N1647D	probably benign	Het
Cacna2d4	A	T	6: 119,285,682 (GRCm39)	D803V	probably damaging	Het
Cdh26	C	T	2: 178,123,425 (GRCm39)	R675C	possibly damaging	Het
Cdx2	C	A	5: 147,243,283 (GRCm39)	K170N	possibly damaging	Het
Cmpk2	A	T	12: 26,519,517 (GRCm39)	D56V	probably benign	Het
Dnah7a	T	C	1: 53,540,685 (GRCm39)	Y2563C	probably damaging	Het
Dock7	T	C	4: 98,943,586 (GRCm39)	D552G	possibly damaging	Het
E2f7	C	A	10: 110,610,656 (GRCm39)	S427*	probably null	Het
Eps8	T	C	6: 137,456,126 (GRCm39)	D785G	probably benign	Het
Ereg	G	A	5: 91,222,659 (GRCm39)	C14Y	possibly damaging	Het
Fah	A	C	7: 84,244,706 (GRCm39)	H222Q	probably benign	Het
Fbxw16	T	A	9: 109,265,236 (GRCm39)	S432C	possibly damaging	Het
Fdps	A	G	3: 89,001,078 (GRCm39)	S334P	possibly damaging	Het
Fgf7	A	G	2: 125,877,875 (GRCm39)	K81E	probably benign	Het
Gfra1	T	C	19: 58,288,986 (GRCm39)	N153S	possibly damaging	Het
Golga1	A	G	2: 38,925,271 (GRCm39)	V351A	probably benign	Het
Got1	A	T	19: 43,492,946 (GRCm39)		probably benign	Het
Greb1	T	C	12: 16,746,457 (GRCm39)	Y1271C	probably damaging	Het
Gtf3c4	A	G	2: 28,724,976 (GRCm39)	I252T	possibly damaging	Het
Gucy1a1	A	G	3: 82,016,094 (GRCm39)	I298T	possibly damaging	Het
Hivep1	A	G	13: 42,317,766 (GRCm39)	I2081V	possibly damaging	Het
Hps3	A	T	3: 20,066,960 (GRCm39)	C535*	probably null	Het
Hspg2	T	C	4: 137,242,033 (GRCm39)	F589S	probably damaging	Het
Itgb8	T	A	12: 119,154,290 (GRCm39)	N249I	probably damaging	Het
Itprid1	A	G	6: 55,874,992 (GRCm39)	E314G	probably damaging	Het
Kdm4a	T	C	4: 118,032,886 (GRCm39)	D60G	probably benign	Het
Kng2	A	T	16: 22,830,931 (GRCm39)		probably benign	Het
Marchf4	A	T	1: 72,573,940 (GRCm39)	D119E	probably benign	Het
Mrpl34	T	C	8: 71,917,719 (GRCm39)		probably benign	Het
Ncoa6	C	T	2: 155,233,131 (GRCm39)	G2059D	probably benign	Het
Nhsl1	A	G	10: 18,400,856 (GRCm39)	K660R	probably damaging	Het
Nr2c2ap	T	C	8: 70,584,228 (GRCm39)	V6A	possibly damaging	Het
Or10j3b	T	A	1: 173,043,524 (GRCm39)	I102N	possibly damaging	Het
Or4c29	C	A	2: 88,740,219 (GRCm39)	D173Y	possibly damaging	Het
Or5k14	A	T	16: 58,693,229 (GRCm39)	Y95N	probably benign	Het
Or7g33	C	A	9: 19,448,408 (GRCm39)	V273L	probably benign	Het
Oscar	C	T	7: 3,614,573 (GRCm39)		probably benign	Het
Pkhd1	T	C	1: 20,610,624 (GRCm39)	S1046G	probably benign	Het
Ptk6	T	C	2: 180,844,284 (GRCm39)	D5G	probably benign	Het
Rgs12	A	G	5: 35,187,424 (GRCm39)	H486R	probably benign	Het
Rnf111	C	T	9: 70,361,113 (GRCm39)		probably benign	Het
Rnf17	A	G	14: 56,676,066 (GRCm39)	Y309C	probably damaging	Het
Rnf19a	A	T	15: 36,253,178 (GRCm39)	I387N	probably damaging	Het
Safb	C	T	17: 56,913,025 (GRCm39)	R914C	probably damaging	Het
Sdk1	A	G	5: 141,940,713 (GRCm39)	T494A	probably benign	Het
Serac1	G	T	17: 6,102,031 (GRCm39)	D384E	probably damaging	Het
Sez6l	T	C	5: 112,623,432 (GRCm39)	M40V	probably benign	Het
Slc17a5	A	G	9: 78,448,206 (GRCm39)	I416T	probably benign	Het
Snapc1	C	T	12: 74,021,806 (GRCm39)	R81C	probably damaging	Het
Spata32	C	T	11: 103,099,921 (GRCm39)	A195T	probably damaging	Het
Srrd	A	G	5: 112,485,394 (GRCm39)		probably benign	Het
Srsf3-ps	T	A	11: 98,516,067 (GRCm39)		probably benign	Het
Supt3	T	C	17: 45,347,662 (GRCm39)	V208A	probably benign	Het
Taok3	G	A	5: 117,390,744 (GRCm39)		probably benign	Het
Tbxas1	G	T	6: 39,004,702 (GRCm39)	R316S	probably benign	Het
Tgfbrap1	A	T	1: 43,114,752 (GRCm39)	I116N	possibly damaging	Het
Tm7sf3	T	C	6: 146,520,107 (GRCm39)	T260A	possibly damaging	Het
Top2a	T	C	11: 98,900,922 (GRCm39)	I556V	probably benign	Het
Uroc1	A	G	6: 90,321,179 (GRCm39)	M252V	probably damaging	Het
Xpo4	G	T	14: 57,867,697 (GRCm39)	H183Q	probably damaging	Het
Zcchc17	T	A	4: 130,230,947 (GRCm39)	I81L	probably benign	Het
Zfp455	A	T	13: 67,355,899 (GRCm39)	Y389F	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
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
R5260:Or4k52	UTSW	2	111,611,526 (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'- CGTTGGGCACTGATGTTTCTCAAAG -3'
(R):5'- GCAGCCTGAAAAGGAAATGGTCTTG -3'

Sequencing Primer
(F):5'- GCACTGATGTTTCTCAAAGTTTGC -3'
(R):5'- GTTACTGAGGAAAGCCACATATC -3'

Posted On

2013-05-09