Mutagenetix > Incidental Mutation

Incidental Mutation 'R2473:Or2t46'

253235

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

040404-MU

Accession Numbers

Essential gene?

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

Stock #

R2473 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

58471663-58472703 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 58472401 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 244 (T244A)

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: T244A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000131257
Gene: ENSMUSG00000060765
AA Change: T244A

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: T244A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000145386
Gene: ENSMUSG00000060765
AA Change: T244A

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: 99.2%
3x: 98.6%
10x: 97.3%
20x: 94.9%

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: 22 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Atp8b4	T	G	2: 126,200,814 (GRCm39)	K785Q	possibly damaging	Het
Cacnb2	G	A	2: 14,989,125 (GRCm39)	D402N	probably damaging	Het
Cyp3a16	T	A	5: 145,392,404 (GRCm39)	I184F	possibly damaging	Het
Ephb4	T	A	5: 137,363,962 (GRCm39)	D611E	probably benign	Het
Habp2	G	A	19: 56,276,464 (GRCm39)	V13M	possibly damaging	Het
Mamdc4	C	A	2: 25,456,344 (GRCm39)	G713V	probably damaging	Het
Marveld2	C	T	13: 100,733,829 (GRCm39)	V269M	probably damaging	Het
Mbd5	T	A	2: 49,169,353 (GRCm39)	M1508K	probably benign	Het
Mgp	T	C	6: 136,850,162 (GRCm39)		probably null	Het
Mucl2	C	G	15: 103,927,628 (GRCm39)	E110Q	possibly damaging	Het
Mxra8	T	C	4: 155,926,500 (GRCm39)	F286S	probably damaging	Het
Or4g16	T	C	2: 111,137,236 (GRCm39)	S229P	probably damaging	Het
Or52h9	T	C	7: 104,202,146 (GRCm39)	Y7H	possibly damaging	Het
Or5p70	C	T	7: 107,994,711 (GRCm39)	A128V	probably damaging	Het
Pax3	C	T	1: 78,099,227 (GRCm39)		probably null	Het
Polm	T	C	11: 5,779,881 (GRCm39)	E339G	possibly damaging	Het
Sec14l4	T	A	11: 3,993,359 (GRCm39)	V218E	probably benign	Het
Sf3b1	C	T	1: 55,038,785 (GRCm39)		probably null	Het
Six4	A	G	12: 73,150,949 (GRCm39)	V532A	probably benign	Het
Slc35c1	T	A	2: 92,285,098 (GRCm39)	D172V	probably benign	Het
Ttc39a	A	T	4: 109,299,436 (GRCm39)	I428F	probably damaging	Het
Zfp414	CAAACTCTTCCGA	CAAACTCTTCCGAAACTCTTCCGA	17: 33,849,551 (GRCm39)		probably null	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
R0604:Or2t46	UTSW	11	58,472,174 (GRCm39)	missense	probably damaging	0.99
R1698:Or2t46	UTSW	11	58,472,077 (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'- GAGGTTCCTGCTGTGACAAAG -3'
(R):5'- TCTTGAAAGAAGGGTTTCACACC -3'

Sequencing Primer
(F):5'- GTGACAAAGCTCTCCTGCTCAG -3'
(R):5'- AACAGTTTCTTCATAGCCTCTGTGAC -3'

Posted On

2014-12-04