Mutagenetix > Incidental Mutation

Incidental Mutation 'R6655:Or2t46'

526596

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

044776-MU

Accession Numbers

Essential gene?

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

Stock #

R6655 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

58471663-58472703 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 58472036 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Lysine at position 122 (M122K)

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: M122K

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

SMART Domains

Protein: ENSMUSP00000131257
Gene: ENSMUSG00000060765
AA Change: M122K

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: M122K

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

SMART Domains

Protein: ENSMUSP00000145386
Gene: ENSMUSG00000060765
AA Change: M122K

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: 99.9%
3x: 99.7%
10x: 98.5%
20x: 95.8%

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: 28 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
AAdacl4fm3	T	A	4: 144,431,815 (GRCm39)	D130V	probably damaging	Het
Akr1b1	C	T	6: 34,286,939 (GRCm39)	V206M	possibly damaging	Het
Alg3	T	A	16: 20,427,776 (GRCm39)	Y12F	probably benign	Het
Arhgef28	A	G	13: 98,036,163 (GRCm39)	Y1699H	probably damaging	Het
Cd109	A	G	9: 78,592,220 (GRCm39)	D778G	probably benign	Het
Dlc1	A	G	8: 37,039,870 (GRCm39)	V1430A	probably damaging	Het
Dscaml1	G	A	9: 45,658,235 (GRCm39)	V1669I	probably benign	Het
Fkbp8	A	G	8: 70,985,320 (GRCm39)	Y278C	probably damaging	Het
Gm5160	T	C	18: 14,558,187 (GRCm39)	F88S	possibly damaging	Het
Kcnh1	A	G	1: 192,095,391 (GRCm39)	N483S	possibly damaging	Het
Lrp2	A	G	2: 69,284,202 (GRCm39)	S3859P	probably benign	Het
Myof	T	C	19: 37,923,239 (GRCm39)	N1351S	probably damaging	Het
Nbn	A	G	4: 15,981,696 (GRCm39)	E596G	probably damaging	Het
Neurl4	T	C	11: 69,801,742 (GRCm39)		probably null	Het
Nol8	T	C	13: 49,807,868 (GRCm39)	L10P	probably damaging	Het
Or6c213	T	C	10: 129,573,956 (GRCm39)	T277A	possibly damaging	Het
Pex26	T	C	6: 121,167,170 (GRCm39)		probably benign	Het
Rab3gap2	T	C	1: 184,982,208 (GRCm39)	M420T	probably damaging	Het
Samd9l	C	A	6: 3,377,247 (GRCm39)	V5L	probably benign	Het
Sec22b	T	A	3: 97,821,964 (GRCm39)		probably null	Het
Shank1	A	G	7: 43,976,644 (GRCm39)	I581V	unknown	Het
Ssbp2	C	T	13: 91,812,268 (GRCm39)	P105L	probably damaging	Het
Ttll9	T	C	2: 152,842,223 (GRCm39)		probably null	Het
Veph1	T	A	3: 66,113,034 (GRCm39)	I257F	possibly damaging	Het
Vmn1r222	A	C	13: 23,416,886 (GRCm39)	I109S	probably damaging	Het
Vmn2r111	T	C	17: 22,778,032 (GRCm39)	N549S	possibly damaging	Het
Wnt16	T	C	6: 22,290,965 (GRCm39)	V131A	probably damaging	Het
Zfp747l1	A	G	7: 126,983,512 (GRCm39)	L530P	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
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
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
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'- TGCTGGTACTCTCTGACACC -3'
(R):5'- TGTCACAGCAGGAACCTCAC -3'

Sequencing Primer
(F):5'- GGTACTCTCTGACACCCACCTTC -3'
(R):5'- CCTCACAGAAGAAGTGATGGATCTC -3'

Posted On

2018-07-23