Mutagenetix > Incidental Mutation

Incidental Mutation 'R9009:Or52k2'

685505

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

068839-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.150) question?

Stock #

R9009 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

102253563-102254516 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 102253642 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Asparagine at position 27 (I27N)

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: I27N

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

SMART Domains

Protein: ENSMUSP00000095826
Gene: ENSMUSG00000073973
AA Change: I27N

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: I27N

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

Meta Mutation Damage Score

0.1341

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

Validation Efficiency

94% (58/62)

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: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
6430548M08Rik	T	A	8: 120,878,279 (GRCm39)		probably benign	Het
Ahctf1	C	T	1: 179,581,171 (GRCm39)	S1677N	probably benign	Het
Ank2	T	C	3: 126,728,025 (GRCm39)		probably benign	Het
Arid3c	A	T	4: 41,729,925 (GRCm39)	I90N	probably benign	Het
Asb1	C	A	1: 91,480,205 (GRCm39)	D301E	unknown	Het
Asb1	T	G	1: 91,480,206 (GRCm39)	*302G	probably null	Het
Birc2	A	T	9: 7,833,937 (GRCm39)	F181L	probably benign	Het
Bnip1	T	A	17: 27,001,590 (GRCm39)		probably benign	Het
Card6	TTGGGAGGACTGTGGATGAGAGGGCTTAGCATGGGAGGACTGTGGATGAGAGGGCTTAGCATGGGAGGACTGTGGATGAGAGGGCTTAGCATGGGAGGACTGCGGATGAGAGGGCTTAGCATGGGAGGACTG	TTGGGAGGACTGTGGATGAGAGGGCTTAGCATGGGAGGACTGTGGATGAGAGGGCTTAGCATGGGAGGACTGCGGATGAGAGGGCTTAGCATGGGAGGACTG	15: 5,128,173 (GRCm39)		probably benign	Het
Cd2ap	T	C	17: 43,116,135 (GRCm39)	D575G	possibly damaging	Het
Cdca7	T	A	2: 72,314,273 (GRCm39)	H248Q	probably damaging	Het
Chd2	T	C	7: 73,143,192 (GRCm39)	D567G	probably benign	Het
Chd2	T	C	7: 73,140,402 (GRCm39)	I609V	probably benign	Het
Cnmd	T	A	14: 79,894,085 (GRCm39)	T101S	probably damaging	Het
Col6a4	T	C	9: 105,954,404 (GRCm39)	T312A	probably benign	Het
Cript	C	A	17: 87,338,475 (GRCm39)	T41N	probably damaging	Het
Cts6	T	C	13: 61,344,261 (GRCm39)	I264V	probably benign	Het
Cyp4a32	C	T	4: 115,467,802 (GRCm39)	T262I	probably null	Het
D430041D05Rik	T	A	2: 104,240,521 (GRCm39)		probably benign	Het
Dctd	C	T	8: 48,564,712 (GRCm39)	P5S	probably benign	Het
Det1	T	C	7: 78,492,984 (GRCm39)	N340S	probably benign	Het
Dnah7b	A	G	1: 46,262,232 (GRCm39)	N2032D	probably benign	Het
Dscam	T	A	16: 96,840,116 (GRCm39)	T164S	probably benign	Het
Emcn	T	C	3: 137,124,775 (GRCm39)	V196A	possibly damaging	Het
Fbxo32	A	G	15: 58,046,358 (GRCm39)	I284T	possibly damaging	Het
Gimap3	C	A	6: 48,742,094 (GRCm39)	D279Y	possibly damaging	Het
Gm43302	C	T	5: 105,427,974 (GRCm39)	D196N	probably benign	Het
Gpc6	C	A	14: 117,424,217 (GRCm39)	H102N	possibly damaging	Het
Gpr158	A	T	2: 21,581,760 (GRCm39)	D413V	probably damaging	Het
Ifi207	T	C	1: 173,555,382 (GRCm39)	R767G	probably damaging	Het
Kcnip2	T	C	19: 45,800,634 (GRCm39)		probably benign	Het
Kifap3	A	C	1: 163,696,291 (GRCm39)	D640A	probably damaging	Het
Lmbrd2	A	T	15: 9,157,311 (GRCm39)	Q183L	possibly damaging	Het
Malt1	A	G	18: 65,577,911 (GRCm39)	I135V	probably benign	Het
Mfhas1	T	C	8: 36,057,109 (GRCm39)	V528A	probably damaging	Het
Mllt10	T	C	2: 18,167,163 (GRCm39)	S363P	probably damaging	Het
Mrnip	A	G	11: 50,073,323 (GRCm39)	Y44C	probably damaging	Het
Mstn	C	T	1: 53,103,131 (GRCm39)	Q156*	probably null	Het
Mtmr7	T	C	8: 41,008,904 (GRCm39)	D469G	possibly damaging	Het
Muc6	A	G	7: 141,217,018 (GRCm39)	S2552P	possibly damaging	Het
Myo1f	C	A	17: 33,823,662 (GRCm39)	N1063K	probably benign	Het
Or5af1	A	T	11: 58,722,280 (GRCm39)	Y100F	probably benign	Het
Or6z5	G	A	7: 6,477,399 (GRCm39)	V97M	probably benign	Het
Orai2	A	G	5: 136,179,430 (GRCm39)	V201A	possibly damaging	Het
Pcdhga6	A	T	18: 37,841,878 (GRCm39)	T533S	possibly damaging	Het
Pkd1l1	T	A	11: 8,881,552 (GRCm39)	K907N		Het
Plaat5	G	T	19: 7,614,823 (GRCm39)	M228I	probably benign	Het
Ppp1r15a	A	T	7: 45,174,049 (GRCm39)	V253E	probably benign	Het
Ppp1r9b	A	G	11: 94,887,467 (GRCm39)	E493G	probably benign	Het
Prdm1	T	C	10: 44,322,997 (GRCm39)	N151S	probably benign	Het
Prkcd	C	T	14: 30,329,297 (GRCm39)	A163T	probably damaging	Het
Prl7a2	T	A	13: 27,849,994 (GRCm39)	E26V	probably damaging	Het
Ptprm	A	T	17: 66,996,354 (GRCm39)	N1278K	probably damaging	Het
Ptprz1	T	A	6: 23,001,653 (GRCm39)	S1248T	possibly damaging	Het
Scn9a	T	C	2: 66,338,927 (GRCm39)	I1186M	probably damaging	Het
Sv2a	T	C	3: 96,094,409 (GRCm39)	F248S	probably benign	Het
Tas2r116	T	A	6: 132,832,963 (GRCm39)	I188K	probably damaging	Het
Tcf21	T	C	10: 22,693,671 (GRCm39)	T169A	probably benign	Het
Tecrl	C	A	5: 83,432,121 (GRCm39)	C258F	probably damaging	Het
Tet2	T	A	3: 133,193,360 (GRCm39)	E358V	possibly damaging	Het
Thada	A	T	17: 84,759,203 (GRCm39)	S219T	possibly damaging	Het
Tpgs2	T	A	18: 25,301,777 (GRCm39)		probably benign	Het
Ttc6	A	T	12: 57,744,219 (GRCm39)	I1284F	probably damaging	Het
Vmn1r160	T	C	7: 22,571,127 (GRCm39)	V160A	possibly damaging	Het
Vmn1r44	T	C	6: 89,870,671 (GRCm39)	L139P	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
R8448: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
R9139:Or52k2	UTSW	7	102,254,185 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CATGACAATAGGTGACTTTCTCTTG -3'
(R):5'- ACAGGGAGAGCATTTTGGGC -3'

Sequencing Primer
(F):5'- TATTTGAAGACTCACACAAGAGAAG -3'
(R):5'- AGAGCATTTTGGGCAGTGTTGAC -3'

Posted On

2021-10-11