Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02887:Or2t47'

363771

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Or2t47

Ensembl Gene

ENSMUSG00000057654

Gene Name

olfactory receptor family 2 subfamily T member 47

Synonyms

GA_x6K02T2NKPP-873285-874217, MOR275-2, Olfr328

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.063) question?

Stock #

IGL02887

Quality Score

Status

Chromosome

Chromosomal Location

58442131-58443063 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 58442987 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 26 (L26P)

Ref Sequence

ENSEMBL: ENSMUSP00000150086 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000073933] [ENSMUST00000108824] [ENSMUST00000215717] [ENSMUST00000216725]

AlphaFold

Q5NCD3

Predicted Effect

probably damaging
Transcript: ENSMUST00000073933
AA Change: L26P

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

SMART Domains

Protein: ENSMUSP00000073588
Gene: ENSMUSG00000057654
AA Change: L26P

Domain	Start	End	E-Value	Type
Pfam:7TM_GPCR_Srsx	34	303	8.3e-6	PFAM
Pfam:7tm_1	40	289	1.4e-34	PFAM
Pfam:7tm_4	138	282	4.4e-42	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000108824
AA Change: L26P

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

SMART Domains

Protein: ENSMUSP00000104452
Gene: ENSMUSG00000057654
AA Change: L26P

Domain	Start	End	E-Value	Type
Pfam:7tm_4	30	306	7e-45	PFAM
Pfam:7TM_GPCR_Srsx	34	303	8.3e-6	PFAM
Pfam:7tm_1	40	289	9.8e-28	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000215717
AA Change: L26P

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000216725
AA Change: L26P

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

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: 86 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700017B05Rik	A	G	9: 57,166,168 (GRCm39)	Y69H	probably damaging	Het
Afap1l2	A	T	19: 56,908,995 (GRCm39)	S310R	probably damaging	Het
Aldh7a1	A	G	18: 56,675,288 (GRCm39)		probably benign	Het
Anxa8	T	A	14: 33,818,481 (GRCm39)		probably null	Het
Ap1ar	T	C	3: 127,602,192 (GRCm39)	E282G	probably damaging	Het
Arl6ip6	T	G	2: 53,092,939 (GRCm39)	S155A	probably benign	Het
Armc9	T	C	1: 86,092,557 (GRCm39)	F107S	probably damaging	Het
Ash1l	C	A	3: 88,891,488 (GRCm39)	D1122E	probably benign	Het
Atp2b4	T	A	1: 133,656,512 (GRCm39)	I713F	probably damaging	Het
BC005624	A	C	2: 30,863,317 (GRCm39)		probably benign	Het
Calcrl	T	C	2: 84,169,586 (GRCm39)	D365G	probably benign	Het
Ccdc110	A	G	8: 46,396,221 (GRCm39)	N704S	probably benign	Het
Ccr10	G	T	11: 101,065,492 (GRCm39)	L13I	probably benign	Het
Cfap52	A	G	11: 67,844,341 (GRCm39)	Y125H	probably damaging	Het
Cnr2	C	A	4: 135,644,936 (GRCm39)	T338K	possibly damaging	Het
Cntn2	T	A	1: 132,444,308 (GRCm39)	D935V	probably damaging	Het
Cog7	T	C	7: 121,543,067 (GRCm39)	K448R	possibly damaging	Het
Csnk1g2	G	A	10: 80,474,369 (GRCm39)	D197N	probably damaging	Het
Cyp2e1	T	A	7: 140,343,824 (GRCm39)	S21T	probably damaging	Het
Dcaf11	T	C	14: 55,801,592 (GRCm39)	F187L	probably damaging	Het
Dmd	T	A	X: 82,922,110 (GRCm39)	F1460Y	probably benign	Het
Dnah11	G	A	12: 117,874,775 (GRCm39)	A4030V	probably damaging	Het
Dnah7a	A	G	1: 53,561,519 (GRCm39)	V2046A	possibly damaging	Het
Dnajc6	T	C	4: 101,496,497 (GRCm39)	I820T	probably damaging	Het
Dsel	T	C	1: 111,788,462 (GRCm39)	D691G	possibly damaging	Het
Fbp1	T	A	13: 63,016,894 (GRCm39)	M203L	probably benign	Het
Fndc1	T	C	17: 7,992,470 (GRCm39)	T409A	unknown	Het
Golgb1	T	G	16: 36,746,211 (GRCm39)	L2930R	probably damaging	Het
Htr2a	A	G	14: 74,882,583 (GRCm39)	T190A	probably benign	Het
Klra4	C	T	6: 130,021,033 (GRCm39)	C254Y	probably damaging	Het
Large1	A	T	8: 73,858,667 (GRCm39)	V67E	probably benign	Het
Lins1	T	C	7: 66,363,931 (GRCm39)	S609P	probably damaging	Het
Magi3	T	C	3: 104,002,473 (GRCm39)	E156G	probably damaging	Het
Mdh1b	A	G	1: 63,754,523 (GRCm39)		probably benign	Het
Mfsd6	T	C	1: 52,748,037 (GRCm39)	D276G	probably benign	Het
Myh9	T	A	15: 77,680,220 (GRCm39)	K185*	probably null	Het
Myof	T	C	19: 37,909,227 (GRCm39)		probably null	Het
Naip2	T	G	13: 100,298,020 (GRCm39)	Y672S	possibly damaging	Het
Nbeal1	A	G	1: 60,326,603 (GRCm39)		probably benign	Het
Nbeal2	T	A	9: 110,457,344 (GRCm39)	H2273L	probably damaging	Het
Neb	T	C	2: 52,090,733 (GRCm39)	K1346E	possibly damaging	Het
Nfatc2	T	C	2: 168,346,370 (GRCm39)	D908G	probably damaging	Het
Nlgn2	T	C	11: 69,718,080 (GRCm39)	N375S	probably benign	Het
Nova1	G	T	12: 46,767,505 (GRCm39)	Q139K	unknown	Het
Opa3	A	T	7: 18,962,507 (GRCm39)	Q47L	probably damaging	Het
Or10g7	T	A	9: 39,905,109 (GRCm39)	M1K	probably null	Het
Or6c205	T	A	10: 129,086,794 (GRCm39)	Y130*	probably null	Het
Pacs1	A	T	19: 5,185,138 (GRCm39)		probably benign	Het
Pappa2	T	A	1: 158,609,829 (GRCm39)	H1544L	probably damaging	Het
Pax8	A	G	2: 24,334,627 (GRCm39)	S48P	probably damaging	Het
Pdilt	T	C	7: 119,097,272 (GRCm39)	N70S	possibly damaging	Het
Poldip3	T	C	15: 83,013,469 (GRCm39)		probably benign	Het
Ppp6r1	T	A	7: 4,645,211 (GRCm39)	I80F	probably damaging	Het
Pycr2	T	A	1: 180,732,304 (GRCm39)		probably null	Het
Rapgef2	C	T	3: 78,976,187 (GRCm39)		probably benign	Het
Rbm44	T	A	1: 91,080,902 (GRCm39)	D363E	probably damaging	Het
Rnf213	A	T	11: 119,318,336 (GRCm39)	I1046F	probably damaging	Het
Ryr2	A	G	13: 11,606,155 (GRCm39)	S4476P	probably damaging	Het
Scara5	G	A	14: 66,000,278 (GRCm39)	D483N	unknown	Het
Scmh1	T	A	4: 120,325,586 (GRCm39)	F101Y	probably damaging	Het
Sgo2a	T	A	1: 58,055,511 (GRCm39)	V565E	probably damaging	Het
Simc1	T	C	13: 54,673,071 (GRCm39)	M473T	probably benign	Het
Skint6	T	A	4: 113,095,381 (GRCm39)	R93*	probably null	Het
Skint7	T	C	4: 111,839,375 (GRCm39)	V223A	possibly damaging	Het
Slc25a2	T	C	18: 37,770,939 (GRCm39)	I197V	probably benign	Het
Slit2	A	G	5: 48,374,816 (GRCm39)	T361A	probably benign	Het
Sugp1	G	A	8: 70,522,776 (GRCm39)	G492D	probably damaging	Het
Svep1	C	T	4: 58,145,301 (GRCm39)	G388D	probably damaging	Het
Tbpl2	G	T	2: 23,983,888 (GRCm39)	A183E	probably damaging	Het
Tcerg1l	G	T	7: 137,831,619 (GRCm39)	P453T	probably damaging	Het
Tdpoz2	T	C	3: 93,559,046 (GRCm39)	T309A	probably benign	Het
Thbs4	T	A	13: 92,927,306 (GRCm39)	Y61F	probably benign	Het
Tmem117	C	A	15: 94,992,656 (GRCm39)	P439T	probably damaging	Het
Tmem151a	A	G	19: 5,132,993 (GRCm39)	V71A	probably benign	Het
Tmem268	G	T	4: 63,486,691 (GRCm39)		probably benign	Het
Tmem43	T	A	6: 91,454,356 (GRCm39)	Y48N	possibly damaging	Het
Tmigd1	T	C	11: 76,804,812 (GRCm39)	V217A	probably benign	Het
Tmprss11g	A	T	5: 86,645,188 (GRCm39)		probably benign	Het
Tsn	T	C	1: 118,237,551 (GRCm39)	I38V	probably benign	Het
Ttc41	A	T	10: 86,569,518 (GRCm39)	Y632F	probably damaging	Het
Vmn2r117	C	T	17: 23,694,552 (GRCm39)		probably benign	Het
Vmn2r12	A	T	5: 109,238,351 (GRCm39)	I463N	probably benign	Het
Wdsub1	T	A	2: 59,683,176 (GRCm39)	N466I	probably damaging	Het
Zdhhc21	A	T	4: 82,762,427 (GRCm39)	I56N	probably benign	Het
Zfand4	A	G	6: 116,250,617 (GRCm39)	T16A	possibly damaging	Het
Zmym4	T	C	4: 126,842,268 (GRCm39)	E15G	probably damaging	Het

Other mutations in Or2t47

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01950:Or2t47	APN	11	58,442,560 (GRCm39)	nonsense	probably null
IGL03409:Or2t47	APN	11	58,442,388 (GRCm39)	missense	probably benign	0.01
P4748:Or2t47	UTSW	11	58,442,348 (GRCm39)	missense	probably damaging	1.00
R0504:Or2t47	UTSW	11	58,442,462 (GRCm39)	missense	probably damaging	1.00
R1637:Or2t47	UTSW	11	58,442,246 (GRCm39)	missense	possibly damaging	0.64
R1863:Or2t47	UTSW	11	58,442,849 (GRCm39)	missense	probably benign	0.04
R2158:Or2t47	UTSW	11	58,442,768 (GRCm39)	missense	probably damaging	1.00
R2404:Or2t47	UTSW	11	58,442,546 (GRCm39)	missense	probably damaging	1.00
R4024:Or2t47	UTSW	11	58,442,222 (GRCm39)	missense	possibly damaging	0.90
R4073:Or2t47	UTSW	11	58,442,888 (GRCm39)	missense	probably damaging	1.00
R5261:Or2t47	UTSW	11	58,442,877 (GRCm39)	missense	probably benign	0.01
R5399:Or2t47	UTSW	11	58,442,969 (GRCm39)	missense	probably benign	0.20
R6053:Or2t47	UTSW	11	58,442,892 (GRCm39)	missense	possibly damaging	0.90
R6411:Or2t47	UTSW	11	58,442,483 (GRCm39)	missense	probably damaging	0.99
R6709:Or2t47	UTSW	11	58,442,862 (GRCm39)	missense	probably benign	0.01
R7243:Or2t47	UTSW	11	58,442,227 (GRCm39)	missense	probably damaging	1.00
R7540:Or2t47	UTSW	11	58,442,457 (GRCm39)	missense	possibly damaging	0.96
R8359:Or2t47	UTSW	11	58,443,029 (GRCm39)	missense	probably benign
R8984:Or2t47	UTSW	11	58,442,209 (GRCm39)	missense	probably damaging	1.00
R9648:Or2t47	UTSW	11	58,442,313 (GRCm39)	missense	probably damaging	1.00
R9676:Or2t47	UTSW	11	58,442,253 (GRCm39)	missense	probably benign	0.00
Z1186:Or2t47	UTSW	11	58,442,387 (GRCm39)	missense	probably benign
Z1186:Or2t47	UTSW	11	58,442,801 (GRCm39)	missense	probably benign
Z1186:Or2t47	UTSW	11	58,442,940 (GRCm39)	missense	probably benign	0.00
Z1187:Or2t47	UTSW	11	58,442,940 (GRCm39)	missense	probably benign	0.00
Z1187:Or2t47	UTSW	11	58,442,801 (GRCm39)	missense	probably benign
Z1187:Or2t47	UTSW	11	58,442,387 (GRCm39)	missense	probably benign
Z1188:Or2t47	UTSW	11	58,442,940 (GRCm39)	missense	probably benign	0.00
Z1188:Or2t47	UTSW	11	58,442,801 (GRCm39)	missense	probably benign
Z1188:Or2t47	UTSW	11	58,442,387 (GRCm39)	missense	probably benign
Z1189:Or2t47	UTSW	11	58,442,940 (GRCm39)	missense	probably benign	0.00
Z1189:Or2t47	UTSW	11	58,442,801 (GRCm39)	missense	probably benign
Z1189:Or2t47	UTSW	11	58,442,387 (GRCm39)	missense	probably benign
Z1190:Or2t47	UTSW	11	58,442,940 (GRCm39)	missense	probably benign	0.00
Z1190:Or2t47	UTSW	11	58,442,801 (GRCm39)	missense	probably benign
Z1190:Or2t47	UTSW	11	58,442,387 (GRCm39)	missense	probably benign
Z1191:Or2t47	UTSW	11	58,442,940 (GRCm39)	missense	probably benign	0.00
Z1191:Or2t47	UTSW	11	58,442,801 (GRCm39)	missense	probably benign
Z1191:Or2t47	UTSW	11	58,442,387 (GRCm39)	missense	probably benign
Z1192:Or2t47	UTSW	11	58,442,940 (GRCm39)	missense	probably benign	0.00
Z1192:Or2t47	UTSW	11	58,442,801 (GRCm39)	missense	probably benign
Z1192:Or2t47	UTSW	11	58,442,387 (GRCm39)	missense	probably benign

Posted On

2015-12-18