Mutagenetix > Incidental Mutation

Incidental Mutation 'R0604:Or2t46'

55595

Institutional Source

Beutler Lab

Gene Symbol

Or2t46

Ensembl Gene

ENSMUSG00000060765

Gene Name

olfactory receptor family 2 subfamily T member 46

Synonyms

MOR275-11_p, Olfr325, GA_x6K02T2NKPP-844642-843680, MOR275-5

MMRRC Submission

038793-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.053) question?

Stock #

R0604 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

58471663-58472703 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 58472174 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Lysine at position 168 (M168K)

Ref Sequence

ENSEMBL: ENSMUSP00000145386 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000169428] [ENSMUST00000203418]

AlphaFold

Q5NCD2

Predicted Effect

probably damaging
Transcript: ENSMUST00000169428
AA Change: M168K

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000131257
Gene: ENSMUSG00000060765
AA Change: M168K

Domain	Start	End	E-Value	Type
Pfam:7tm_4	35	312	2.3e-46	PFAM
Pfam:7TM_GPCR_Srsx	39	290	1.4e-6	PFAM
Pfam:7tm_1	45	294	1.6e-27	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000203418
AA Change: M168K

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000145386
Gene: ENSMUSG00000060765
AA Change: M168K

Domain	Start	End	E-Value	Type
Pfam:7tm_4	35	130	7.6e-14	PFAM
Pfam:7TM_GPCR_Srsx	36	130	1.1e-4	PFAM
Pfam:7tm_1	45	130	2.6e-16	PFAM

Coding Region Coverage

1x: 99.4%
3x: 98.8%
10x: 97.4%
20x: 94.8%

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: 32 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acap1	T	C	11: 69,775,451 (GRCm39)	E302G	probably benign	Het
Acsbg3	T	A	17: 57,192,169 (GRCm39)	Y577*	probably null	Het
Adrb2	G	A	18: 62,311,586 (GRCm39)	T413I	possibly damaging	Het
Aqr	T	C	2: 113,961,085 (GRCm39)	K725R	probably benign	Het
Braf	A	G	6: 39,600,631 (GRCm39)	I662T	probably damaging	Het
Ccdc178	A	G	18: 22,200,500 (GRCm39)	S435P	probably benign	Het
Chd9	A	G	8: 91,763,170 (GRCm39)	M2332V	possibly damaging	Het
Clgn	T	C	8: 84,150,823 (GRCm39)	V496A	probably benign	Het
Dnah17	A	C	11: 118,012,297 (GRCm39)	S193R	probably benign	Het
Dntt	A	G	19: 41,041,588 (GRCm39)	E424G	probably benign	Het
Fam149a	A	G	8: 45,798,045 (GRCm39)	L492P	probably damaging	Het
Fetub	T	C	16: 22,754,410 (GRCm39)	Y126H	possibly damaging	Het
Fgfr3	A	T	5: 33,890,126 (GRCm39)	Y96F	probably damaging	Het
Gm4952	A	G	19: 12,602,036 (GRCm39)	E148G	probably benign	Het
Gucy2g	T	A	19: 55,191,519 (GRCm39)	L977F	probably benign	Het
Il1r1	T	C	1: 40,321,406 (GRCm39)	V6A	probably benign	Het
Itsn2	C	A	12: 4,708,189 (GRCm39)	Q832K	probably benign	Het
Lats1	T	A	10: 7,588,425 (GRCm39)	F1014Y	probably damaging	Het
Mcc	G	A	18: 44,606,823 (GRCm39)	A536V	probably damaging	Het
Mtrf1	T	C	14: 79,653,327 (GRCm39)	V334A	possibly damaging	Het
Or1j21	T	A	2: 36,684,119 (GRCm39)	Y290*	probably null	Het
Or2z8	C	T	8: 72,812,244 (GRCm39)	T240M	probably damaging	Het
Or4p18	T	C	2: 88,232,727 (GRCm39)	T184A	probably benign	Het
Pard6g	A	G	18: 80,160,423 (GRCm39)	S179G	probably damaging	Het
Pierce1	C	A	2: 28,356,103 (GRCm39)	R60L	possibly damaging	Het
Polr3a	G	A	14: 24,534,232 (GRCm39)	P91L	probably damaging	Het
Psg27	A	T	7: 18,290,997 (GRCm39)	V402D	probably damaging	Het
Rttn	A	G	18: 88,995,882 (GRCm39)	I222V	probably damaging	Het
Sp9	T	A	2: 73,103,982 (GRCm39)	S179T	probably benign	Het
Tbc1d8	T	A	1: 39,444,407 (GRCm39)	H184L	probably damaging	Het
Vmn1r69	A	G	7: 10,314,581 (GRCm39)	V50A	probably benign	Het
Vmn2r58	A	G	7: 41,510,000 (GRCm39)	F526L	possibly damaging	Het

Other mutations in Or2t46

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00953:Or2t46	APN	11	58,472,636 (GRCm39)	missense	probably benign
IGL01922:Or2t46	APN	11	58,471,899 (GRCm39)	missense	probably benign	0.01
IGL02440:Or2t46	APN	11	58,472,035 (GRCm39)	missense	probably damaging	1.00
IGL02456:Or2t46	APN	11	58,472,024 (GRCm39)	missense	possibly damaging	0.48
IGL03088:Or2t46	APN	11	58,472,653 (GRCm39)	utr 3 prime	probably benign
IGL03328:Or2t46	APN	11	58,472,539 (GRCm39)	missense	probably damaging	1.00
R1698:Or2t46	UTSW	11	58,472,077 (GRCm39)	missense	probably damaging	1.00
R2473:Or2t46	UTSW	11	58,472,401 (GRCm39)	missense	probably damaging	1.00
R2888:Or2t46	UTSW	11	58,471,988 (GRCm39)	missense	possibly damaging	0.96
R4133:Or2t46	UTSW	11	58,471,901 (GRCm39)	missense	probably damaging	0.97
R4710:Or2t46	UTSW	11	58,472,548 (GRCm39)	missense	probably damaging	1.00
R4715:Or2t46	UTSW	11	58,472,255 (GRCm39)	missense	probably damaging	1.00
R4898:Or2t46	UTSW	11	58,472,546 (GRCm39)	missense	probably damaging	1.00
R4939:Or2t46	UTSW	11	58,472,037 (GRCm39)	missense	probably damaging	1.00
R4977:Or2t46	UTSW	11	58,472,455 (GRCm39)	missense	possibly damaging	0.57
R5389:Or2t46	UTSW	11	58,471,825 (GRCm39)	missense	possibly damaging	0.78
R5393:Or2t46	UTSW	11	58,471,825 (GRCm39)	missense	possibly damaging	0.78
R6137:Or2t46	UTSW	11	58,471,894 (GRCm39)	missense	probably benign
R6302:Or2t46	UTSW	11	58,472,464 (GRCm39)	missense	probably benign
R6655:Or2t46	UTSW	11	58,472,036 (GRCm39)	missense	probably damaging	1.00
R6927:Or2t46	UTSW	11	58,472,491 (GRCm39)	missense	possibly damaging	0.81
R7451:Or2t46	UTSW	11	58,472,516 (GRCm39)	missense	probably damaging	1.00
R7494:Or2t46	UTSW	11	58,472,038 (GRCm39)	missense	probably damaging	0.97
R7626:Or2t46	UTSW	11	58,471,999 (GRCm39)	missense	probably damaging	0.97
R7724:Or2t46	UTSW	11	58,472,208 (GRCm39)	missense	probably benign	0.01
R7874:Or2t46	UTSW	11	58,472,573 (GRCm39)	missense	possibly damaging	0.93
R8217:Or2t46	UTSW	11	58,471,792 (GRCm39)	missense	probably benign	0.00
R8252:Or2t46	UTSW	11	58,471,958 (GRCm39)	missense	probably damaging	1.00
R8992:Or2t46	UTSW	11	58,471,738 (GRCm39)	missense	probably benign	0.00
R9376:Or2t46	UTSW	11	58,472,636 (GRCm39)	missense	probably benign
R9439:Or2t46	UTSW	11	58,472,104 (GRCm39)	missense	probably benign	0.38
Z1177:Or2t46	UTSW	11	58,472,137 (GRCm39)	missense	probably damaging	1.00
Z1186:Or2t46	UTSW	11	58,472,122 (GRCm39)	missense	probably benign
Z1186:Or2t46	UTSW	11	58,472,483 (GRCm39)	missense	probably benign
Z1186:Or2t46	UTSW	11	58,471,750 (GRCm39)	missense	probably benign	0.00
Z1186:Or2t46	UTSW	11	58,471,757 (GRCm39)	missense	probably benign
Z1186:Or2t46	UTSW	11	58,471,828 (GRCm39)	missense	probably benign
Z1187:Or2t46	UTSW	11	58,471,828 (GRCm39)	missense	probably benign
Z1187:Or2t46	UTSW	11	58,471,757 (GRCm39)	missense	probably benign
Z1187:Or2t46	UTSW	11	58,471,750 (GRCm39)	missense	probably benign	0.00
Z1187:Or2t46	UTSW	11	58,472,483 (GRCm39)	missense	probably benign
Z1187:Or2t46	UTSW	11	58,472,122 (GRCm39)	missense	probably benign
Z1188:Or2t46	UTSW	11	58,471,828 (GRCm39)	missense	probably benign
Z1188:Or2t46	UTSW	11	58,471,757 (GRCm39)	missense	probably benign
Z1188:Or2t46	UTSW	11	58,471,750 (GRCm39)	missense	probably benign	0.00
Z1188:Or2t46	UTSW	11	58,472,483 (GRCm39)	missense	probably benign
Z1188:Or2t46	UTSW	11	58,472,122 (GRCm39)	missense	probably benign
Z1189:Or2t46	UTSW	11	58,472,122 (GRCm39)	missense	probably benign
Z1189:Or2t46	UTSW	11	58,471,757 (GRCm39)	missense	probably benign
Z1189:Or2t46	UTSW	11	58,471,750 (GRCm39)	missense	probably benign	0.00
Z1189:Or2t46	UTSW	11	58,472,483 (GRCm39)	missense	probably benign
Z1190:Or2t46	UTSW	11	58,471,828 (GRCm39)	missense	probably benign
Z1190:Or2t46	UTSW	11	58,471,757 (GRCm39)	missense	probably benign
Z1190:Or2t46	UTSW	11	58,471,750 (GRCm39)	missense	probably benign	0.00
Z1190:Or2t46	UTSW	11	58,472,483 (GRCm39)	missense	probably benign
Z1190:Or2t46	UTSW	11	58,472,122 (GRCm39)	missense	probably benign
Z1191:Or2t46	UTSW	11	58,471,828 (GRCm39)	missense	probably benign
Z1191:Or2t46	UTSW	11	58,471,757 (GRCm39)	missense	probably benign
Z1191:Or2t46	UTSW	11	58,471,750 (GRCm39)	missense	probably benign	0.00
Z1191:Or2t46	UTSW	11	58,472,483 (GRCm39)	missense	probably benign
Z1191:Or2t46	UTSW	11	58,472,122 (GRCm39)	missense	probably benign
Z1192:Or2t46	UTSW	11	58,472,122 (GRCm39)	missense	probably benign
Z1192:Or2t46	UTSW	11	58,471,757 (GRCm39)	missense	probably benign
Z1192:Or2t46	UTSW	11	58,471,750 (GRCm39)	missense	probably benign	0.00
Z1192:Or2t46	UTSW	11	58,472,483 (GRCm39)	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- ATGGACCTCACCACCTGGATGAAC -3'
(R):5'- GCCTGAAATGACTGTCACAGGGATG -3'

Sequencing Primer
(F):5'- CTACCTGACATTAGCAGGGTC -3'
(R):5'- CTGTCACAGGGATGAGAAGC -3'

Posted On

2013-07-11