Mutagenetix > Incidental Mutation

Incidental Mutation 'R7886:Or2t48'

609074

Institutional Source

Beutler Lab

Gene Symbol

Or2t48

Ensembl Gene

ENSMUSG00000050818

Gene Name

olfactory receptor family 2 subfamily T member 48

Synonyms

Olfr330, MOR275-1, GA_x6K02T2NKPP-895420-896349

MMRRC Submission

045938-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.058) question?

Stock #

R7886 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

58419755-58425651 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 58419880 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Leucine at position 311 (V311L)

Ref Sequence

ENSEMBL: ENSMUSP00000149073 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000134055] [ENSMUST00000213188]

AlphaFold

Q8VGD9

Predicted Effect

probably benign
Transcript: ENSMUST00000134055
AA Change: V311L

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000145126
Gene: ENSMUSG00000050818
AA Change: V311L

Domain	Start	End	E-Value	Type
Pfam:7tm_4	35	312	1.6e-46	PFAM
Pfam:7TM_GPCR_Srsx	39	309	4.4e-6	PFAM
Pfam:7tm_1	45	294	2.3e-27	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000213188
AA Change: V311L

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)

Meta Mutation Damage Score

0.2140

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.9%

Validation Efficiency

100% (53/53)

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: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A730049H05Rik	T	G	6: 92,811,437 (GRCm39)	I130S	unknown	Het
Ano5	A	G	7: 51,220,141 (GRCm39)	H427R	probably benign	Het
Atad2	A	T	15: 57,989,532 (GRCm39)	V182E	probably damaging	Het
B4galnt1	T	C	10: 127,002,923 (GRCm39)	Y147H	probably damaging	Het
C1s2	T	C	6: 124,605,289 (GRCm39)	S349G	possibly damaging	Het
Ccdc51	G	T	9: 108,920,655 (GRCm39)	A181S	probably damaging	Het
Dcc	G	A	18: 72,087,939 (GRCm39)	Q100*	probably null	Het
Dchs2	A	T	3: 83,212,392 (GRCm39)	I2064F	probably damaging	Het
Depdc1a	G	A	3: 159,221,706 (GRCm39)	V217I	probably benign	Het
Dnajc7	A	T	11: 100,492,629 (GRCm39)	F31I	probably benign	Het
Eftud2	C	T	11: 102,730,934 (GRCm39)	R825H	probably damaging	Het
Fam184a	T	C	10: 53,551,256 (GRCm39)	E237G	probably damaging	Het
Fdx2	A	T	9: 20,984,623 (GRCm39)		probably null	Het
Frem1	T	C	4: 82,934,643 (GRCm39)	D106G	possibly damaging	Het
Gabrg3	G	A	7: 56,374,229 (GRCm39)	R446W	probably damaging	Het
Get1	T	A	16: 95,946,768 (GRCm39)	L31Q	possibly damaging	Het
Gm42669	A	G	5: 107,656,572 (GRCm39)	E362G		Het
Hmcn1	A	T	1: 150,533,221 (GRCm39)	I3022N	possibly damaging	Het
Ifna2	C	A	4: 88,601,506 (GRCm39)	V171F	probably damaging	Het
Igsf10	T	C	3: 59,235,748 (GRCm39)	N1478D	probably benign	Het
Kcnc1	C	A	7: 46,077,045 (GRCm39)	D282E	probably damaging	Het
Klhdc2	G	A	12: 69,351,406 (GRCm39)		probably null	Het
Macrod2	G	A	2: 141,566,565 (GRCm39)	G188S	probably damaging	Het
Mapkbp1	T	C	2: 119,843,128 (GRCm39)	F186L	possibly damaging	Het
Mettl21a	T	C	1: 64,654,343 (GRCm39)	E58G	probably damaging	Het
Muc16	A	T	9: 18,497,278 (GRCm39)	C6625S	probably benign	Het
Naip5	A	T	13: 100,382,689 (GRCm39)	S7T	probably benign	Het
Nfs1	T	A	2: 155,983,981 (GRCm39)	D132V	unknown	Het
Nlgn1	T	C	3: 25,490,071 (GRCm39)	D552G	probably damaging	Het
Numa1	C	T	7: 101,663,072 (GRCm39)	T2066I	probably benign	Het
Or10k2	T	C	8: 84,268,576 (GRCm39)	S268P	possibly damaging	Het
Or4k2	A	T	14: 50,424,021 (GRCm39)	Y219N	probably damaging	Het
Or7a39	A	G	10: 78,715,657 (GRCm39)	Y217C	possibly damaging	Het
Or7g29	A	T	9: 19,287,202 (GRCm39)		probably null	Het
Pde11a	C	T	2: 76,121,547 (GRCm39)	V345I	probably benign	Het
Pglyrp2	A	G	17: 32,637,735 (GRCm39)	S98P	possibly damaging	Het
Pik3c3	C	T	18: 30,452,641 (GRCm39)	Q643*	probably null	Het
Pold2	T	C	11: 5,822,714 (GRCm39)	Y402C	probably damaging	Het
Pom121	T	C	5: 135,410,848 (GRCm39)	T770A	unknown	Het
Pou4f1	A	T	14: 104,704,228 (GRCm39)	V68E	probably damaging	Het
Ppfia1	G	T	7: 144,073,020 (GRCm39)	Q265K	probably benign	Het
Pygl	A	G	12: 70,253,130 (GRCm39)		probably null	Het
Rdh19	A	G	10: 127,686,169 (GRCm39)	T94A	probably benign	Het
Scgb1b12	A	G	7: 32,033,922 (GRCm39)	T61A	probably damaging	Het
Sirpb1c	C	T	3: 15,886,366 (GRCm39)	A337T	probably benign	Het
Sltm	C	G	9: 70,493,955 (GRCm39)	P802R	possibly damaging	Het
Tbc1d23	T	C	16: 57,009,746 (GRCm39)	E381G	possibly damaging	Het
Tnik	A	G	3: 28,720,288 (GRCm39)	I1304V	probably damaging	Het
Tpmt	C	A	13: 47,193,638 (GRCm39)	G54C	probably damaging	Het
Usp25	A	T	16: 76,910,659 (GRCm39)	Q905L	probably damaging	Het
Vmn1r91	T	A	7: 19,835,490 (GRCm39)	N136K	probably benign	Het
Wdr70	C	T	15: 8,108,733 (GRCm39)	E138K	probably benign	Het
Zbed3	A	G	13: 95,472,633 (GRCm39)	D19G	possibly damaging	Het
Zfp369	A	G	13: 65,439,868 (GRCm39)	K184R	possibly damaging	Het

Other mutations in Or2t48

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01484:Or2t48	APN	11	58,420,222 (GRCm39)	missense	probably benign	0.17
IGL01672:Or2t48	APN	11	58,419,948 (GRCm39)	missense	probably benign	0.43
IGL01782:Or2t48	APN	11	58,419,985 (GRCm39)	missense	probably benign	0.03
IGL01998:Or2t48	APN	11	58,420,403 (GRCm39)	nonsense	probably null
IGL02538:Or2t48	APN	11	58,420,816 (GRCm39)	utr 5 prime	probably benign
R1670:Or2t48	UTSW	11	58,420,237 (GRCm39)	missense	probably damaging	1.00
R1727:Or2t48	UTSW	11	58,420,342 (GRCm39)	missense	possibly damaging	0.51
R1768:Or2t48	UTSW	11	58,420,602 (GRCm39)	missense	probably damaging	1.00
R1839:Or2t48	UTSW	11	58,420,199 (GRCm39)	nonsense	probably null
R2129:Or2t48	UTSW	11	58,420,437 (GRCm39)	missense	probably damaging	1.00
R2135:Or2t48	UTSW	11	58,420,611 (GRCm39)	missense	probably damaging	1.00
R2425:Or2t48	UTSW	11	58,420,137 (GRCm39)	missense	probably damaging	1.00
R3753:Or2t48	UTSW	11	58,420,516 (GRCm39)	missense	probably benign	0.00
R4480:Or2t48	UTSW	11	58,420,627 (GRCm39)	missense	probably damaging	0.99
R4827:Or2t48	UTSW	11	58,420,422 (GRCm39)	missense	probably damaging	0.99
R4836:Or2t48	UTSW	11	58,420,308 (GRCm39)	missense	probably damaging	0.99
R4973:Or2t48	UTSW	11	58,419,903 (GRCm39)	missense	probably benign
R5128:Or2t48	UTSW	11	58,420,248 (GRCm39)	missense	probably damaging	0.98
R5288:Or2t48	UTSW	11	58,420,308 (GRCm39)	missense	probably damaging	0.99
R5326:Or2t48	UTSW	11	58,420,710 (GRCm39)	missense	probably benign	0.02
R5542:Or2t48	UTSW	11	58,420,710 (GRCm39)	missense	probably benign	0.02
R5620:Or2t48	UTSW	11	58,420,557 (GRCm39)	missense	probably damaging	0.99
R6210:Or2t48	UTSW	11	58,420,090 (GRCm39)	missense	probably damaging	1.00
R7163:Or2t48	UTSW	11	58,419,994 (GRCm39)	nonsense	probably null
R8201:Or2t48	UTSW	11	58,419,865 (GRCm39)	makesense	noncoding transcript
R8519:Or2t48	UTSW	11	58,420,329 (GRCm39)	missense	possibly damaging	0.94
R8728:Or2t48	UTSW	11	58,420,027 (GRCm39)	missense	probably benign	0.34
R9175:Or2t48	UTSW	11	58,420,590 (GRCm39)	missense	probably damaging	1.00
R9178:Or2t48	UTSW	11	58,420,473 (GRCm39)	missense	probably damaging	1.00
R9190:Or2t48	UTSW	11	58,420,161 (GRCm39)	missense	possibly damaging	0.89
R9471:Or2t48	UTSW	11	58,420,355 (GRCm39)	nonsense	probably null
RF003:Or2t48	UTSW	11	58,419,983 (GRCm39)	frame shift	probably null
RF004:Or2t48	UTSW	11	58,419,983 (GRCm39)	frame shift	probably null

Predicted Primers

PCR Primer
(F):5'- CTCCATGAAATGTAACAGTGGCAG -3'
(R):5'- GTGGTCACCCTCTTCTATGG -3'

Sequencing Primer
(F):5'- CATGAAATGTAACAGTGGCAGAATGC -3'
(R):5'- ATGGTGCTGCTATCTATACCTAC -3'

Posted On

2019-12-20