Mutagenetix > Incidental Mutation

Incidental Mutation 'R5399:Or2t47'

429887

Institutional Source

Beutler Lab

Gene Symbol

Or2t47

Ensembl Gene

ENSMUSG00000057654

Gene Name

olfactory receptor family 2 subfamily T member 47

Synonyms

GA_x6K02T2NKPP-873285-874217, MOR275-2, Olfr328

MMRRC Submission

042970-MU

Accession Numbers

Essential gene?

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

Stock #

R5399 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

58442131-58443063 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 58442969 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 32 (V32A)

Ref Sequence

ENSEMBL: ENSMUSP00000150086 (fasta)

Gene Model

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

AlphaFold

Q5NCD3

Predicted Effect

probably benign
Transcript: ENSMUST00000073933
AA Change: V32A

PolyPhen 2 Score 0.203 (Sensitivity: 0.92; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000073588
Gene: ENSMUSG00000057654
AA Change: V32A

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 benign
Transcript: ENSMUST00000108824
AA Change: V32A

PolyPhen 2 Score 0.203 (Sensitivity: 0.92; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000104452
Gene: ENSMUSG00000057654
AA Change: V32A

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 benign
Transcript: ENSMUST00000215717
AA Change: V32A

PolyPhen 2 Score 0.203 (Sensitivity: 0.92; Specificity: 0.88)

Predicted Effect

probably benign
Transcript: ENSMUST00000216725
AA Change: V32A

PolyPhen 2 Score 0.203 (Sensitivity: 0.92; Specificity: 0.88)

Coding Region Coverage

1x: 99.3%
3x: 98.6%
10x: 97.2%
20x: 95.3%

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: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
6820408C15Rik	G	T	2: 152,282,788 (GRCm39)	L214F	probably damaging	Het
Abcb1b	T	C	5: 8,877,410 (GRCm39)	S657P	probably benign	Het
Abcb5	T	A	12: 118,875,234 (GRCm39)	Y646F	probably benign	Het
Agl	A	T	3: 116,575,277 (GRCm39)	L620Q	probably damaging	Het
Anapc15	C	T	7: 101,547,810 (GRCm39)	P68L	probably damaging	Het
Arhgap23	A	G	11: 97,391,743 (GRCm39)	N1420S	probably damaging	Het
Barx2	A	G	9: 31,765,407 (GRCm39)		probably null	Het
Birc6	C	A	17: 74,911,573 (GRCm39)	S28R	possibly damaging	Het
Bmal2	T	G	6: 146,724,159 (GRCm39)	D350E	probably damaging	Het
Btbd19	G	A	4: 116,980,957 (GRCm39)	A104V	probably damaging	Het
Casp4	A	T	9: 5,324,928 (GRCm39)	K247*	probably null	Het
Ccdc196	A	C	12: 78,244,227 (GRCm39)	N60T	probably damaging	Het
Clk4	T	C	11: 51,166,084 (GRCm39)	Y17H	probably damaging	Het
Cntnap1	A	G	11: 101,074,142 (GRCm39)	Q722R	probably benign	Het
Col6a6	A	G	9: 105,586,306 (GRCm39)	V1905A	possibly damaging	Het
Csmd1	C	A	8: 16,760,613 (GRCm39)	G174V	probably damaging	Het
Cul1	T	A	6: 47,462,018 (GRCm39)		probably null	Het
Cux1	T	C	5: 136,281,458 (GRCm39)	E568G	possibly damaging	Het
Dnaaf2	A	G	12: 69,243,516 (GRCm39)	I515T	probably damaging	Het
Fbn1	T	C	2: 125,174,253 (GRCm39)	I1868V	possibly damaging	Het
Fcgbp	G	T	7: 27,804,480 (GRCm39)	V1863L	probably benign	Het
G2e3	T	C	12: 51,403,977 (GRCm39)		probably null	Het
Gabrr2	T	C	4: 33,071,458 (GRCm39)		probably null	Het
Gad1-ps	G	A	10: 99,281,009 (GRCm39)		noncoding transcript	Het
Gbgt1	C	T	2: 28,393,230 (GRCm39)	P106L	probably damaging	Het
Golga3	A	G	5: 110,352,890 (GRCm39)	E927G	probably damaging	Het
Hfm1	T	A	5: 107,065,428 (GRCm39)	I84F	possibly damaging	Het
Htt	G	T	5: 35,034,495 (GRCm39)	D1989Y	probably damaging	Het
Ihh	C	T	1: 74,985,436 (GRCm39)	A350T	probably benign	Het
Irx4	G	C	13: 73,413,658 (GRCm39)	A43P	probably benign	Het
Itk	A	G	11: 46,228,938 (GRCm39)	V414A	probably benign	Het
Itsn2	A	T	12: 4,703,535 (GRCm39)	I744L	probably benign	Het
Kdm5b	G	A	1: 134,549,836 (GRCm39)		probably null	Het
Kif14	A	G	1: 136,431,062 (GRCm39)	D1153G	probably benign	Het
Morc3	A	G	16: 93,659,427 (GRCm39)		probably null	Het
Mplkipl1	C	T	19: 61,164,364 (GRCm39)	G24R	unknown	Het
Msc	A	T	1: 14,825,780 (GRCm39)	C65S	probably benign	Het
Mybpc1	A	G	10: 88,358,876 (GRCm39)	V343A	probably damaging	Het
Myo5c	T	C	9: 75,195,356 (GRCm39)	I1218T	possibly damaging	Het
Mypn	C	T	10: 62,955,965 (GRCm39)	V1163I	probably benign	Het
Obox3	A	T	7: 15,360,213 (GRCm39)	M152K	probably benign	Het
Or1e16	AGCGGTCGTAGGC	AGC	11: 73,286,480 (GRCm39)		probably null	Het
Or4c106	T	A	2: 88,682,999 (GRCm39)	L235H	probably damaging	Het
Or4c3	T	A	2: 89,852,267 (GRCm39)	T48S	probably benign	Het
Pcdhb21	G	T	18: 37,648,772 (GRCm39)	V634L	probably benign	Het
Ppp1r9b	G	A	11: 94,882,974 (GRCm39)	A201T	probably benign	Het
Pramel25	T	C	4: 143,521,602 (GRCm39)	F406S	probably benign	Het
Prss23	A	T	7: 89,159,174 (GRCm39)	D298E	probably benign	Het
Rab4b	A	T	7: 26,875,587 (GRCm39)	N31K	probably benign	Het
Ros1	A	G	10: 51,967,040 (GRCm39)		probably null	Het
Rragb	G	A	X: 151,923,550 (GRCm39)	G24E	probably damaging	Het
Rtl1	A	T	12: 109,556,736 (GRCm39)	L1701Q	probably damaging	Het
Sbno1	T	A	5: 124,530,804 (GRCm39)	N831Y	probably benign	Het
Selp	A	G	1: 163,954,155 (GRCm39)	K152E	possibly damaging	Het
Sema4b	A	G	7: 79,874,634 (GRCm39)	T675A	probably benign	Het
Slc36a3	T	C	11: 55,037,006 (GRCm39)	I100V	possibly damaging	Het
Slco1a4	T	A	6: 141,776,433 (GRCm39)	I196F	probably damaging	Het
Spata13	G	A	14: 60,984,990 (GRCm39)	S828N	probably benign	Het
Stard13	A	T	5: 150,971,266 (GRCm39)	Y643*	probably null	Het
Tll1	T	C	8: 64,538,522 (GRCm39)	H374R	probably damaging	Het
Trmt10a	T	A	3: 137,853,265 (GRCm39)	I42K	probably damaging	Het
Trmu	A	T	15: 85,780,609 (GRCm39)		probably null	Het
Trp53	T	A	11: 69,479,372 (GRCm39)	D183E	probably benign	Het
Ttc22	T	G	4: 106,493,954 (GRCm39)	F305V	probably damaging	Het
Unc13c	A	G	9: 73,656,970 (GRCm39)	F1077S	possibly damaging	Het
Utrn	T	A	10: 12,516,727 (GRCm39)	Q2289L	probably damaging	Het
Vmn1r65	C	A	7: 6,011,809 (GRCm39)	E142*	probably null	Het
Vmn2r63	A	T	7: 42,577,701 (GRCm39)	V279D	probably benign	Het
Zfp810	G	A	9: 22,190,125 (GRCm39)	T261I	possibly damaging	Het
Zkscan17	A	G	11: 59,393,744 (GRCm39)		probably null	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
IGL02887:Or2t47	APN	11	58,442,987 (GRCm39)	missense	probably damaging	1.00
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
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

Predicted Primers

PCR Primer
(F):5'- AGGCAGCAGCTGAGATCTTG -3'
(R):5'- CAGATACAGAGGCTGAGACTTTTC -3'

Sequencing Primer
(F):5'- CAGCTGAGATCTTGTGGCTCC -3'
(R):5'- CAGAGGCTGAGACTTTTCACCATG -3'

Posted On

2016-09-06