Mutagenetix > Incidental Mutation

Incidental Mutation 'R4827:Or2t48'

372516

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

042443-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.063) question?

Stock #

R4827 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

58419755-58425651 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 58420422 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 130 (I130T)

Ref Sequence

ENSEMBL: ENSMUSP00000149073 (fasta)

Gene Model

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

AlphaFold

Q8VGD9

Predicted Effect

probably damaging
Transcript: ENSMUST00000062869
AA Change: I130T

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000063194
Gene: ENSMUSG00000050818
AA Change: I130T

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

noncoding transcript
Transcript: ENSMUST00000117184

Predicted Effect

probably damaging
Transcript: ENSMUST00000134055
AA Change: I130T

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000145126
Gene: ENSMUSG00000050818
AA Change: I130T

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

noncoding transcript
Transcript: ENSMUST00000203550
AA Change: I130T

SMART Domains

Protein: ENSMUSP00000145138
Gene: ENSMUSG00000050818
AA Change: I130T

Domain	Start	End	E-Value	Type
Pfam:7tm_4	35	130	1.1e-13	PFAM
Pfam:7TM_GPCR_Srsx	39	130	1.3e-4	PFAM
Pfam:7tm_1	45	130	6.3e-17	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000213188
AA Change: I130T

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)

Meta Mutation Damage Score

0.8992

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 96.8%
20x: 94.0%

Validation Efficiency

96% (67/70)

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: 67 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adck1	A	G	12: 88,413,489 (GRCm39)	R274G	probably benign	Het
Agbl5	T	G	5: 31,053,158 (GRCm39)	S83R	probably damaging	Het
Ankib1	A	G	5: 3,751,907 (GRCm39)	I711T	probably damaging	Het
Arnt	T	A	3: 95,397,224 (GRCm39)		probably null	Het
Atad2	C	G	15: 57,971,744 (GRCm39)	V702L	probably benign	Het
B4galnt4	A	G	7: 140,648,392 (GRCm39)	E636G	probably benign	Het
Btbd2	A	G	10: 80,482,223 (GRCm39)	I244T	probably damaging	Het
Cenpc1	A	T	5: 86,182,290 (GRCm39)	N531K	possibly damaging	Het
Ces3b	T	A	8: 105,813,527 (GRCm39)	M266K	probably benign	Het
Cfap54	A	T	10: 92,737,937 (GRCm39)		probably benign	Het
Coq8a	A	G	1: 179,994,903 (GRCm39)	V590A	possibly damaging	Het
Drc7	A	G	8: 95,798,267 (GRCm39)	Y504C	probably damaging	Het
Elovl4	T	C	9: 83,688,091 (GRCm39)	M1V	probably null	Het
Exd1	C	T	2: 119,350,807 (GRCm39)	A485T	probably benign	Het
Fads2	A	G	19: 10,059,958 (GRCm39)	F239L	probably benign	Het
Gcc2	A	T	10: 58,121,953 (GRCm39)		probably null	Het
Ggact	C	T	14: 123,128,987 (GRCm39)	R76H	probably benign	Het
Gm17535	T	A	9: 3,035,786 (GRCm39)	L218H	probably benign	Het
Gm3739	A	T	14: 18,506,218 (GRCm39)	F13I	probably damaging	Het
Gng2	T	C	14: 19,925,898 (GRCm39)	K65E	possibly damaging	Het
Gnmt	A	G	17: 47,038,245 (GRCm39)	Y94H	possibly damaging	Het
Gzme	C	A	14: 56,356,755 (GRCm39)	R69M	probably null	Het
Hdc	G	A	2: 126,436,233 (GRCm39)	P546L	probably benign	Het
Ibtk	C	A	9: 85,610,607 (GRCm39)	V326F	probably benign	Het
Inpp5b	G	T	4: 124,637,643 (GRCm39)		probably benign	Het
Kcnh7	A	T	2: 62,546,564 (GRCm39)	C1006S	probably benign	Het
Kcnk18	A	T	19: 59,208,362 (GRCm39)	N66I	probably damaging	Het
Lpar6	T	A	14: 73,476,190 (GRCm39)	N50K	probably damaging	Het
Lrba	G	T	3: 86,267,457 (GRCm39)	D1716Y	possibly damaging	Het
Ltf	T	A	9: 110,856,445 (GRCm39)		probably benign	Het
Map3k6	A	G	4: 132,976,160 (GRCm39)	T794A	possibly damaging	Het
Mcm8	A	G	2: 132,665,174 (GRCm39)	T217A	probably damaging	Het
Meaf6	A	G	4: 124,996,713 (GRCm39)	E141G	probably damaging	Het
Mmp13	A	G	9: 7,278,880 (GRCm39)	T324A	possibly damaging	Het
Mplkipl1	C	T	19: 61,164,364 (GRCm39)	G24R	unknown	Het
Msl2	T	G	9: 100,979,350 (GRCm39)	F575V	probably benign	Het
Ncoa4-ps	C	T	12: 119,225,529 (GRCm39)		noncoding transcript	Het
Nlrp2	A	T	7: 5,331,950 (GRCm39)	W149R	possibly damaging	Het
Ntng1	C	A	3: 110,042,727 (GRCm39)	C33F	probably damaging	Het
Nxn	A	G	11: 76,152,418 (GRCm39)	Y359H	probably benign	Het
Olfml2a	A	C	2: 38,850,033 (GRCm39)	D583A	probably damaging	Het
Or12j5	A	C	7: 140,083,583 (GRCm39)	L263R	probably damaging	Het
Or1e32	A	T	11: 73,705,547 (GRCm39)	Y120*	probably null	Het
Or4b1b	A	T	2: 90,112,547 (GRCm39)	I124N	probably damaging	Het
Or51ac3	A	T	7: 103,213,752 (GRCm39)	S245T	probably damaging	Het
Pcdha4	T	C	18: 37,086,251 (GRCm39)	S145P	probably damaging	Het
Pcsk2	A	T	2: 143,643,099 (GRCm39)	K459*	probably null	Het
Pirb	C	T	7: 3,720,602 (GRCm39)	G299S	probably benign	Het
Plch2	A	G	4: 155,075,570 (GRCm39)	F653S	probably damaging	Het
Plpp3	T	C	4: 105,088,167 (GRCm39)	I296T	probably benign	Het
Polr2b	A	G	5: 77,490,398 (GRCm39)	E846G	probably benign	Het
Ptpro	A	T	6: 137,419,708 (GRCm39)	N157Y	probably damaging	Het
Ralgapa1	A	G	12: 55,723,222 (GRCm39)	L1815P	probably damaging	Het
Sap18	A	G	14: 58,036,020 (GRCm39)	N69D	probably damaging	Het
Sncg	C	A	14: 34,095,284 (GRCm39)	V74F	probably damaging	Het
Spata31e2	T	C	1: 26,724,923 (GRCm39)	K86E	possibly damaging	Het
Spmip4	A	C	6: 50,572,836 (GRCm39)	S26A	possibly damaging	Het
Tmem186	A	T	16: 8,453,681 (GRCm39)	Y193*	probably null	Het
Trrap	A	G	5: 144,737,758 (GRCm39)	S1045G	probably benign	Het
Tti2	T	G	8: 31,640,998 (GRCm39)	S41A	probably benign	Het
Unc13c	T	C	9: 73,838,568 (GRCm39)	E761G	probably damaging	Het
Vamp2	T	A	11: 68,980,637 (GRCm39)	D68E	probably benign	Het
Vmn1r200	A	T	13: 22,579,265 (GRCm39)	M14L	probably benign	Het
Vps35	T	A	8: 86,000,186 (GRCm39)	D480V	possibly damaging	Het
Zfp462	T	C	4: 55,012,213 (GRCm39)	L1393P	probably damaging	Het
Zfp512	G	A	5: 31,630,158 (GRCm39)	M274I	probably benign	Het
Znfx1	C	G	2: 166,886,151 (GRCm39)	G803A	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
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
R7886:Or2t48	UTSW	11	58,419,880 (GRCm39)	missense	probably benign	0.01
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'- TCATAGAGCCAGGTGTCTGAGC -3'
(R):5'- ATCAGCCAACTGTCCCTCATG -3'

Sequencing Primer
(F):5'- GCTTTGTCACAGCAGGAAC -3'
(R):5'- GGACATGATGTACATTTCTGTCACTG -3'

Posted On

2016-03-01