Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02332:Or51k2'

288733

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Or51k2

Ensembl Gene

ENSMUSG00000073937

Gene Name

olfactory receptor family 51 subfamily K member 2

Synonyms

MOR12-5, GA_x6K02T2PBJ9-6681230-6682168, Olfr633

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.056) question?

Stock #

IGL02332

Quality Score

Status

Chromosome

Chromosomal Location

103595775-103596713 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 103596127 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Threonine at position 118 (M118T)

Ref Sequence

ENSEMBL: ENSMUSP00000149105 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000098188] [ENSMUST00000216006]

AlphaFold

Q8VF02

Predicted Effect

probably damaging
Transcript: ENSMUST00000098188
AA Change: M118T

PolyPhen 2 Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000095790
Gene: ENSMUSG00000073937
AA Change: M118T

Domain	Start	End	E-Value	Type
Pfam:7tm_4	31	310	1.3e-120	PFAM
Pfam:7TM_GPCR_Srsx	35	158	7e-10	PFAM
Pfam:7tm_1	41	292	2.5e-21	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000216006
AA Change: M118T

PolyPhen 2 Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)

Coding Region Coverage

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: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700018B24Rik	A	G	3: 48,563,323 (GRCm39)		noncoding transcript	Het
Abca13	A	T	11: 9,241,482 (GRCm39)	Y1115F	probably damaging	Het
Adam29	T	A	8: 56,324,775 (GRCm39)	I560F	probably damaging	Het
Bivm	T	C	1: 44,167,880 (GRCm39)		probably benign	Het
Brinp1	C	A	4: 68,823,121 (GRCm39)	R24L	probably benign	Het
Cnga1	A	G	5: 72,761,829 (GRCm39)	Y562H	probably damaging	Het
Cr2	C	A	1: 194,842,630 (GRCm39)	Q256H	probably benign	Het
Dhcr7	A	T	7: 143,396,865 (GRCm39)	N119I	probably damaging	Het
Dio1	A	T	4: 107,150,978 (GRCm39)	Y169N	probably damaging	Het
Dmbt1	C	T	7: 130,668,343 (GRCm39)		probably benign	Het
Eogt	T	G	6: 97,102,566 (GRCm39)	H249P	probably damaging	Het
Ermard	A	C	17: 15,210,807 (GRCm39)		probably null	Het
Exoc4	T	C	6: 33,226,175 (GRCm39)		probably null	Het
Fxr2	G	T	11: 69,540,664 (GRCm39)		probably null	Het
Glyr1	G	T	16: 4,836,817 (GRCm39)	T443N	probably damaging	Het
Gm14137	T	G	2: 119,005,807 (GRCm39)	L122R	probably damaging	Het
Gm4845	C	A	1: 141,184,335 (GRCm39)		noncoding transcript	Het
Gm8258	A	G	5: 104,923,768 (GRCm39)		noncoding transcript	Het
Gmps	G	A	3: 63,897,990 (GRCm39)	R258H	probably benign	Het
Itga6	T	G	2: 71,668,717 (GRCm39)	L552R	possibly damaging	Het
Itgam	T	A	7: 127,684,846 (GRCm39)		probably null	Het
Itgb5	G	T	16: 33,740,500 (GRCm39)	E224*	probably null	Het
Itih4	C	A	14: 30,609,817 (GRCm39)	A49D	probably damaging	Het
Itpr2	A	T	6: 146,328,040 (GRCm39)	N64K	probably damaging	Het
Moap1	T	C	12: 102,709,066 (GRCm39)	Y161C	probably benign	Het
Mst1r	G	T	9: 107,785,025 (GRCm39)	G228*	probably null	Het
Myo1g	T	C	11: 6,470,766 (GRCm39)	D30G	possibly damaging	Het
Ndn	T	A	7: 61,998,573 (GRCm39)	C140S	probably damaging	Het
Nek5	G	T	8: 22,585,277 (GRCm39)	Q367K	probably benign	Het
Nrdc	A	T	4: 108,858,185 (GRCm39)	R52S	probably damaging	Het
Nup133	A	T	8: 124,634,571 (GRCm39)	L1007Q	probably damaging	Het
Or5be3	T	C	2: 86,864,556 (GRCm39)	D3G	probably benign	Het
Or5d47	A	T	2: 87,804,409 (GRCm39)	L200Q	probably damaging	Het
P2rx2	T	C	5: 110,489,671 (GRCm39)	S116G	probably benign	Het
Pcdhb13	G	A	18: 37,576,635 (GRCm39)	V338M	probably benign	Het
Pdcl2	A	T	5: 76,466,982 (GRCm39)	Y70*	probably null	Het
Ppm1e	T	C	11: 87,122,568 (GRCm39)	H463R	probably benign	Het
Ppm1f	T	A	16: 16,731,951 (GRCm39)	C134S	possibly damaging	Het
Ppp2r3d	A	G	9: 101,057,602 (GRCm39)	F180L	possibly damaging	Het
Pxn	A	G	5: 115,682,985 (GRCm39)	S96G	probably benign	Het
Rasa4	G	T	5: 136,124,453 (GRCm39)	Q167H	probably benign	Het
Rfx8	T	C	1: 39,757,640 (GRCm39)	I43V	possibly damaging	Het
Sez6	C	T	11: 77,845,568 (GRCm39)		probably benign	Het
Slc39a6	A	T	18: 24,722,880 (GRCm39)	D473E	probably benign	Het
Spocd1	A	G	4: 129,842,885 (GRCm39)	D68G	probably damaging	Het
Syt13	T	C	2: 92,771,149 (GRCm39)	F79L	probably benign	Het
Tas2r103	A	T	6: 133,013,475 (GRCm39)	M197K	probably benign	Het
Tbrg4	A	G	11: 6,568,492 (GRCm39)	V429A	probably damaging	Het
Tuft1	A	C	3: 94,523,075 (GRCm39)		probably null	Het
Uqcrc1	A	G	9: 108,776,937 (GRCm39)	T80A	probably damaging	Het
Vps18	A	G	2: 119,124,291 (GRCm39)	N406S	probably benign	Het
Xrn2	T	A	2: 146,868,510 (GRCm39)	W188R	probably damaging	Het
Zzef1	T	G	11: 72,807,335 (GRCm39)	S2738A	probably benign	Het

Other mutations in Or51k2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00926:Or51k2	APN	7	103,596,204 (GRCm39)	missense	probably benign	0.03
IGL01728:Or51k2	APN	7	103,595,959 (GRCm39)	missense	probably damaging	1.00
IGL02125:Or51k2	APN	7	103,596,279 (GRCm39)	missense	probably damaging	1.00
IGL03336:Or51k2	APN	7	103,596,616 (GRCm39)	missense	probably damaging	1.00
R0611:Or51k2	UTSW	7	103,596,400 (GRCm39)	missense	probably damaging	1.00
R1341:Or51k2	UTSW	7	103,596,589 (GRCm39)	missense	possibly damaging	0.95
R1971:Or51k2	UTSW	7	103,596,150 (GRCm39)	missense	probably damaging	1.00
R2171:Or51k2	UTSW	7	103,595,992 (GRCm39)	missense	probably damaging	1.00
R4958:Or51k2	UTSW	7	103,595,808 (GRCm39)	missense	probably damaging	1.00
R6700:Or51k2	UTSW	7	103,596,531 (GRCm39)	missense	probably damaging	1.00
R7585:Or51k2	UTSW	7	103,596,607 (GRCm39)	missense	probably benign	0.01
R7640:Or51k2	UTSW	7	103,596,150 (GRCm39)	missense	probably damaging	1.00
R8330:Or51k2	UTSW	7	103,596,610 (GRCm39)	missense	possibly damaging	0.56
R8463:Or51k2	UTSW	7	103,595,834 (GRCm39)	splice site	probably null
R8489:Or51k2	UTSW	7	103,596,328 (GRCm39)	missense	probably damaging	0.99

Posted On

2015-04-16