Mutagenetix > Incidental Mutation

Incidental Mutation 'R3606:Or2t49'

269092

Institutional Source

Beutler Lab

Gene Symbol

Or2t49

Ensembl Gene

ENSMUSG00000058807

Gene Name

olfactory receptor family 2 subfamily T member 49

Synonyms

GA_x6K02T2NKPP-912840-913784, Olfr331, MOR275-4

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.057) question?

Stock #

R3606 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

58392424-58393398 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 58392957 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Methionine at position 148 (V148M)

Ref Sequence

ENSEMBL: ENSMUSP00000080440 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000081743] [ENSMUST00000170501]

AlphaFold

Q5NC44

Predicted Effect

possibly damaging
Transcript: ENSMUST00000081743
AA Change: V148M

PolyPhen 2 Score 0.492 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000080440
Gene: ENSMUSG00000058807
AA Change: V148M

Domain	Start	End	E-Value	Type
Pfam:7tm_4	35	315	1e-42	PFAM
Pfam:7tm_1	45	299	1.8e-21	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000170501
AA Change: V142M

PolyPhen 2 Score 0.309 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000132693
Gene: ENSMUSG00000058807
AA Change: V142M

Domain	Start	End	E-Value	Type
low complexity region	23	37	N/A	INTRINSIC
Pfam:7tm_1	39	292	4.9e-28	PFAM
Pfam:7tm_4	141	285	3.6e-42	PFAM

Coding Region Coverage

1x: 99.4%
3x: 98.6%
10x: 97.0%
20x: 93.8%

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, Feb 2012]

Allele List at MGI

Other mutations in this stock

Total: 20 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Arid4b	T	C	13: 14,294,826 (GRCm39)	V36A	probably damaging	Het
Cd101	A	T	3: 100,927,913 (GRCm39)	I56N	probably damaging	Het
Cs	A	T	10: 128,195,892 (GRCm39)	H367L	probably benign	Het
Ddb1	A	G	19: 10,605,857 (GRCm39)	E1095G	probably damaging	Het
Fgfrl1	C	A	5: 108,853,289 (GRCm39)	T213K	probably damaging	Het
Ift70a1	T	C	2: 75,811,621 (GRCm39)	D154G	probably benign	Het
Kprp	C	A	3: 92,731,588 (GRCm39)	Q487H	unknown	Het
Myom2	T	C	8: 15,119,775 (GRCm39)	V177A	probably damaging	Het
Nelfcd	A	G	2: 174,268,337 (GRCm39)	Y525C	probably benign	Het
Or5i1	C	A	2: 87,613,551 (GRCm39)	F222L	probably benign	Het
Pcdhgc5	A	G	18: 37,953,560 (GRCm39)	D278G	probably benign	Het
Peg3	T	C	7: 6,711,508 (GRCm39)	E1238G	probably damaging	Het
Plekha7	T	C	7: 115,763,477 (GRCm39)	D313G	possibly damaging	Het
Ppp1r9a	A	G	6: 5,113,674 (GRCm39)	N726S	possibly damaging	Het
Psmd3	C	T	11: 98,581,780 (GRCm39)	R302W	probably damaging	Het
Ptbp2	A	G	3: 119,541,281 (GRCm39)	L223P	probably damaging	Het
Ranbp10	A	G	8: 106,502,667 (GRCm39)	S300P	probably benign	Het
Rundc3b	A	T	5: 8,562,386 (GRCm39)	D327E	probably damaging	Het
Tsr1	T	C	11: 74,796,059 (GRCm39)	S562P	probably benign	Het
Ube3c	A	G	5: 29,803,936 (GRCm39)	T180A	possibly damaging	Het

Other mutations in Or2t49

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01124:Or2t49	APN	11	58,393,020 (GRCm39)	missense	possibly damaging	0.89
IGL02458:Or2t49	APN	11	58,393,073 (GRCm39)	missense	probably benign	0.20
IGL02971:Or2t49	APN	11	58,393,211 (GRCm39)	missense	probably damaging	1.00
IGL03346:Or2t49	APN	11	58,392,581 (GRCm39)	missense	possibly damaging	0.76
R0416:Or2t49	UTSW	11	58,393,222 (GRCm39)	missense	unknown
R1547:Or2t49	UTSW	11	58,392,651 (GRCm39)	missense	probably damaging	1.00
R1697:Or2t49	UTSW	11	58,392,502 (GRCm39)	missense	probably damaging	1.00
R1717:Or2t49	UTSW	11	58,392,885 (GRCm39)	missense	probably benign	0.09
R1721:Or2t49	UTSW	11	58,392,765 (GRCm39)	missense	probably damaging	1.00
R2194:Or2t49	UTSW	11	58,392,468 (GRCm39)	missense	probably damaging	0.97
R4457:Or2t49	UTSW	11	58,392,944 (GRCm39)	missense	probably damaging	1.00
R4766:Or2t49	UTSW	11	58,392,494 (GRCm39)	missense	probably damaging	1.00
R4858:Or2t49	UTSW	11	58,392,735 (GRCm39)	missense	probably damaging	1.00
R5475:Or2t49	UTSW	11	58,392,431 (GRCm39)	missense	probably benign	0.10
R5822:Or2t49	UTSW	11	58,392,464 (GRCm39)	missense	possibly damaging	0.61
R6337:Or2t49	UTSW	11	58,392,838 (GRCm39)	nonsense	probably null
R6416:Or2t49	UTSW	11	58,393,166 (GRCm39)	missense	probably damaging	1.00
R7101:Or2t49	UTSW	11	58,393,379 (GRCm39)	missense	probably benign	0.00
R7108:Or2t49	UTSW	11	58,393,380 (GRCm39)	missense	probably benign
R8327:Or2t49	UTSW	11	58,392,942 (GRCm39)	missense	probably benign
R9507:Or2t49	UTSW	11	58,392,576 (GRCm39)	missense	possibly damaging	0.87
RF035:Or2t49	UTSW	11	58,393,208 (GRCm39)	small deletion	probably benign
Z1186:Or2t49	UTSW	11	58,393,287 (GRCm39)	missense	probably benign	0.00
Z1186:Or2t49	UTSW	11	58,393,396 (GRCm39)	start codon destroyed	probably null	0.96
Z1186:Or2t49	UTSW	11	58,393,212 (GRCm39)	small deletion	probably benign
Z1186:Or2t49	UTSW	11	58,393,210 (GRCm39)	small deletion	probably benign
Z1187:Or2t49	UTSW	11	58,392,936 (GRCm39)	missense	probably benign	0.06
Z1187:Or2t49	UTSW	11	58,393,212 (GRCm39)	small deletion	probably benign
Z1187:Or2t49	UTSW	11	58,393,287 (GRCm39)	missense	probably benign	0.00
Z1187:Or2t49	UTSW	11	58,393,396 (GRCm39)	start codon destroyed	probably null	0.96
Z1187:Or2t49	UTSW	11	58,392,474 (GRCm39)	missense	probably benign
Z1187:Or2t49	UTSW	11	58,392,927 (GRCm39)	missense	probably benign
Z1188:Or2t49	UTSW	11	58,392,927 (GRCm39)	missense	probably benign
Z1188:Or2t49	UTSW	11	58,392,474 (GRCm39)	missense	probably benign
Z1188:Or2t49	UTSW	11	58,393,396 (GRCm39)	start codon destroyed	probably null	0.96
Z1188:Or2t49	UTSW	11	58,393,287 (GRCm39)	missense	probably benign	0.00
Z1188:Or2t49	UTSW	11	58,393,212 (GRCm39)	small deletion	probably benign
Z1188:Or2t49	UTSW	11	58,392,936 (GRCm39)	missense	probably benign	0.06
Z1189:Or2t49	UTSW	11	58,393,287 (GRCm39)	missense	probably benign	0.00
Z1189:Or2t49	UTSW	11	58,393,212 (GRCm39)	small deletion	probably benign
Z1189:Or2t49	UTSW	11	58,393,396 (GRCm39)	start codon destroyed	probably null	0.96
Z1190:Or2t49	UTSW	11	58,392,927 (GRCm39)	missense	probably benign
Z1190:Or2t49	UTSW	11	58,392,474 (GRCm39)	missense	probably benign
Z1190:Or2t49	UTSW	11	58,393,396 (GRCm39)	start codon destroyed	probably null	0.96
Z1190:Or2t49	UTSW	11	58,393,287 (GRCm39)	missense	probably benign	0.00
Z1190:Or2t49	UTSW	11	58,393,212 (GRCm39)	small deletion	probably benign
Z1190:Or2t49	UTSW	11	58,392,936 (GRCm39)	missense	probably benign	0.06
Z1191:Or2t49	UTSW	11	58,392,474 (GRCm39)	missense	probably benign
Z1191:Or2t49	UTSW	11	58,393,396 (GRCm39)	start codon destroyed	probably null	0.96
Z1191:Or2t49	UTSW	11	58,393,287 (GRCm39)	missense	probably benign	0.00
Z1191:Or2t49	UTSW	11	58,393,212 (GRCm39)	small deletion	probably benign
Z1191:Or2t49	UTSW	11	58,392,936 (GRCm39)	missense	probably benign	0.06
Z1191:Or2t49	UTSW	11	58,392,927 (GRCm39)	missense	probably benign
Z1192:Or2t49	UTSW	11	58,393,287 (GRCm39)	missense	probably benign	0.00
Z1192:Or2t49	UTSW	11	58,393,212 (GRCm39)	small deletion	probably benign
Z1192:Or2t49	UTSW	11	58,393,210 (GRCm39)	small deletion	probably benign
Z1192:Or2t49	UTSW	11	58,393,396 (GRCm39)	start codon destroyed	probably null	0.96

Predicted Primers

PCR Primer
(F):5'- CTGTCACAGGGATGAGAAGC -3'
(R):5'- TGCCCAAGATGCTCATGGAC -3'

Sequencing Primer
(F):5'- GCACACATACATGAGGGTCTC -3'
(R):5'- CAAGATGCTCATGGACCAGGTC -3'

Posted On

2015-02-19