Mutagenetix > Incidental Mutation

Incidental Mutation 'R8448:Or52k2'

654606

Institutional Source

Beutler Lab

Gene Symbol

Or52k2

Ensembl Gene

ENSMUSG00000073973

Gene Name

olfactory receptor family 52 subfamily K member 2

Synonyms

GA_x6K02T2PBJ9-5323062-5324015, Olfr552, MOR28-1

MMRRC Submission

067828-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.151) question?

Stock #

R8448 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

102253563-102254516 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 102254207 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Leucine at position 215 (F215L)

Ref Sequence

ENSEMBL: ENSMUSP00000150317 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000098223] [ENSMUST00000215712]

AlphaFold

E9Q545

Predicted Effect

probably benign
Transcript: ENSMUST00000098223
AA Change: F215L

PolyPhen 2 Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)

SMART Domains

Protein: ENSMUSP00000095826
Gene: ENSMUSG00000073973
AA Change: F215L

Domain	Start	End	E-Value	Type
Pfam:7tm_4	33	312	6e-118	PFAM
Pfam:7TM_GPCR_Srsx	37	270	4.4e-8	PFAM
Pfam:7tm_1	43	294	9.6e-20	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000215712
AA Change: F215L

PolyPhen 2 Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.9%

Validation Efficiency

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
4933430I17Rik	T	C	4: 62,461,022 (GRCm39)		probably null	Het
Adamts6	T	A	13: 104,616,027 (GRCm39)	C1030S	probably damaging	Het
Adamtsl3	C	A	7: 82,253,007 (GRCm39)	T1527K	possibly damaging	Het
Akap9	G	A	5: 3,998,897 (GRCm39)		probably null	Het
Ankle2	C	A	5: 110,389,909 (GRCm39)	P457T	possibly damaging	Het
Ankrd7	A	G	6: 18,868,007 (GRCm39)	N91S	probably damaging	Het
Ascc3	C	A	10: 50,494,173 (GRCm39)	Q203K	probably benign	Het
Baz2b	A	T	2: 59,742,137 (GRCm39)	D61E		Het
Bmpr1a	T	A	14: 34,136,759 (GRCm39)	K477N	probably benign	Het
Cacna1d	T	C	14: 29,824,364 (GRCm39)	I1040V	probably damaging	Het
Castor2	T	C	5: 134,166,955 (GRCm39)	F304L	possibly damaging	Het
Cdkn2a	C	A	4: 89,200,291 (GRCm39)	V20L	possibly damaging	Het
Chd5	A	G	4: 152,445,173 (GRCm39)	S385G	probably damaging	Het
Cntrob	A	G	11: 69,190,679 (GRCm39)	F46L	unknown	Het
Cth	T	C	3: 157,630,657 (GRCm39)	D4G	probably benign	Het
Cyld	C	T	8: 89,456,197 (GRCm39)	H416Y	probably damaging	Het
Dennd6a	C	A	14: 26,328,098 (GRCm39)	H264Q	possibly damaging	Het
Dnah1	T	C	14: 31,015,682 (GRCm39)	Y1672C	probably damaging	Het
Dnah8	A	G	17: 30,892,814 (GRCm39)	I800V	probably benign	Het
Esrp2	A	G	8: 106,858,853 (GRCm39)	Y595H	probably damaging	Het
F12	T	A	13: 55,566,301 (GRCm39)	Y497F	probably benign	Het
Fggy	A	G	4: 95,732,427 (GRCm39)	T473A	probably benign	Het
Garre1	A	T	7: 33,984,569 (GRCm39)	L18Q	probably damaging	Het
Gstt2	C	A	10: 75,668,526 (GRCm39)	R107L	probably damaging	Het
Hectd4	A	T	5: 121,358,319 (GRCm39)		probably benign	Het
Helb	A	G	10: 119,938,791 (GRCm39)	F561S	probably damaging	Het
Ints2	T	C	11: 86,146,249 (GRCm39)	T120A	probably benign	Het
Kdm5d	G	A	Y: 914,056 (GRCm39)	R331H	probably benign	Het
Krt6b	A	G	15: 101,586,455 (GRCm39)	Y345H	probably damaging	Het
Limch1	A	G	5: 67,159,825 (GRCm39)	K418E	probably damaging	Het
Lrrc37	T	A	11: 103,511,726 (GRCm39)	T81S	unknown	Het
Med17	C	T	9: 15,173,735 (GRCm39)		probably null	Het
Met	A	T	6: 17,571,799 (GRCm39)	I1373F	probably benign	Het
Naip6	T	A	13: 100,436,894 (GRCm39)	Q543L	possibly damaging	Het
Nat9	T	C	11: 115,075,902 (GRCm39)	T40A	probably damaging	Het
Notch4	A	T	17: 34,805,763 (GRCm39)		probably null	Het
Ogdh	A	G	11: 6,292,619 (GRCm39)	N455S	probably damaging	Het
Pde4a	T	C	9: 21,117,534 (GRCm39)	F599L	probably benign	Het
Pga5	T	C	19: 10,649,173 (GRCm39)	Y249C	probably damaging	Het
Plekha8	A	T	6: 54,607,539 (GRCm39)	K382M	probably damaging	Het
Plekhd1	A	T	12: 80,753,149 (GRCm39)	E119V	probably damaging	Het
Pnp	A	T	14: 51,185,356 (GRCm39)	H20L	probably benign	Het
Polq	A	T	16: 36,837,559 (GRCm39)		probably null	Het
Psma3	T	G	12: 71,035,250 (GRCm39)	I177R	probably damaging	Het
Ptpn3	A	G	4: 57,240,784 (GRCm39)		probably null	Het
Ptprt	A	T	2: 161,400,806 (GRCm39)	L1077Q	probably damaging	Het
Ralgps2	A	T	1: 156,651,744 (GRCm39)		probably null	Het
Rbm47	A	T	5: 66,184,573 (GRCm39)	M10K	possibly damaging	Het
Rere	A	G	4: 150,703,653 (GRCm39)	D186G	probably damaging	Het
Rpl24	T	C	16: 55,787,453 (GRCm39)	S38P	probably damaging	Het
Slco1a1	A	T	6: 141,885,787 (GRCm39)	F79L	possibly damaging	Het
Sorl1	T	A	9: 41,903,041 (GRCm39)	D1551V	probably benign	Het
Sos1	C	A	17: 80,741,548 (GRCm39)	M412I	probably benign	Het
Spast	G	A	17: 74,666,293 (GRCm39)	V209I	probably benign	Het
Spindoc	G	T	19: 7,335,769 (GRCm39)	Q340K	possibly damaging	Het
Tlr6	T	C	5: 65,111,185 (GRCm39)	Y574C	probably damaging	Het
Tnrc6a	A	G	7: 122,791,346 (GRCm39)	N1748S	possibly damaging	Het
Trbv13-2	A	T	6: 41,098,474 (GRCm39)	K16N	probably benign	Het
Triobp	C	T	15: 78,878,326 (GRCm39)	H1750Y	possibly damaging	Het
Usp24	A	G	4: 106,225,933 (GRCm39)	D659G	possibly damaging	Het
Vmn2r88	T	A	14: 51,656,253 (GRCm39)	C821S	probably damaging	Het
Whamm	T	A	7: 81,224,295 (GRCm39)	V197D	probably damaging	Het
Zfp777	A	G	6: 48,006,101 (GRCm39)	F431S	probably damaging	Het

Other mutations in Or52k2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00937:Or52k2	APN	7	102,253,564 (GRCm39)	start codon destroyed	probably null	0.99
IGL03061:Or52k2	APN	7	102,253,946 (GRCm39)	missense	probably damaging	0.99
R0989:Or52k2	UTSW	7	102,253,690 (GRCm39)	missense	probably damaging	1.00
R1513:Or52k2	UTSW	7	102,254,509 (GRCm39)	missense	probably benign	0.09
R1969:Or52k2	UTSW	7	102,253,777 (GRCm39)	missense	probably damaging	0.99
R3177:Or52k2	UTSW	7	102,253,783 (GRCm39)	missense	possibly damaging	0.94
R3277:Or52k2	UTSW	7	102,253,783 (GRCm39)	missense	possibly damaging	0.94
R4019:Or52k2	UTSW	7	102,253,849 (GRCm39)	missense	probably damaging	1.00
R4028:Or52k2	UTSW	7	102,254,500 (GRCm39)	missense	possibly damaging	0.62
R5216:Or52k2	UTSW	7	102,254,028 (GRCm39)	missense	probably benign	0.00
R5444:Or52k2	UTSW	7	102,254,076 (GRCm39)	nonsense	probably null
R5461:Or52k2	UTSW	7	102,253,615 (GRCm39)	missense	probably damaging	0.99
R7706:Or52k2	UTSW	7	102,253,853 (GRCm39)	missense	probably benign	0.12
R8348:Or52k2	UTSW	7	102,254,207 (GRCm39)	missense	probably benign	0.01
R8919:Or52k2	UTSW	7	102,253,711 (GRCm39)	missense	probably damaging	1.00
R8933:Or52k2	UTSW	7	102,253,637 (GRCm39)	missense	probably damaging	1.00
R9009:Or52k2	UTSW	7	102,253,642 (GRCm39)	missense	probably benign	0.00
R9139:Or52k2	UTSW	7	102,254,185 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CGGGCTGTGACACTAATGAC -3'
(R):5'- TAGCCCTAAGACTCGCTCTC -3'

Sequencing Primer
(F):5'- GGCTGTGACACTAATGACTCCAC -3'
(R):5'- CTGCTTAGTCTTGACACCATAGATG -3'

Posted On

2020-10-20