Mutagenetix > Incidental Mutation

Incidental Mutation 'R9190:Or2t48'

697697

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

Accession Numbers

Essential gene?

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

Stock #

R9190 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

58419755-58425651 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 58420161 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 217 (V217A)

Ref Sequence

ENSEMBL: ENSMUSP00000149073 (fasta)

Gene Model

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

AlphaFold

Q8VGD9

Predicted Effect

possibly damaging
Transcript: ENSMUST00000134055
AA Change: V217A

PolyPhen 2 Score 0.886 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000145126
Gene: ENSMUSG00000050818
AA Change: V217A

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

possibly damaging
Transcript: ENSMUST00000213188
AA Change: V217A

PolyPhen 2 Score 0.886 (Sensitivity: 0.82; Specificity: 0.94)

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.1%

Validation Efficiency

100% (52/52)

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: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930433I11Rik	C	T	7: 40,642,880 (GRCm39)	T183I	possibly damaging	Het
Abca13	T	A	11: 9,241,886 (GRCm39)	S1250T	probably damaging	Het
Adamts12	T	A	15: 11,336,446 (GRCm39)	S1510R	probably benign	Het
Adcy5	T	A	16: 35,089,364 (GRCm39)	C520*	probably null	Het
Arhgap21	A	T	2: 20,858,983 (GRCm39)	M1237K	probably null	Het
Atp8b4	T	A	2: 126,225,607 (GRCm39)	N541I	probably damaging	Het
Bbs12	G	T	3: 37,375,223 (GRCm39)	R557L	probably damaging	Het
Bcl7c	T	C	7: 127,266,200 (GRCm39)	T183A	probably benign	Het
Brd7	A	G	8: 89,081,274 (GRCm39)	S192P	probably damaging	Het
Calhm3	G	A	19: 47,146,121 (GRCm39)	A28V	probably benign	Het
Ccdc113	A	G	8: 96,263,101 (GRCm39)	N37S	probably damaging	Het
Cdh5	T	G	8: 104,867,337 (GRCm39)	V538G	probably damaging	Het
Cfap43	T	C	19: 47,726,293 (GRCm39)	E1639G	possibly damaging	Het
Clca3a2	C	T	3: 144,796,599 (GRCm39)	V203I	probably benign	Het
Clstn2	A	G	9: 97,414,815 (GRCm39)	F360L	probably damaging	Het
Cnst	GTGACACGCTTG	GTG	1: 179,407,039 (GRCm39)		probably benign	Het
Cog2	T	C	8: 125,260,058 (GRCm39)	Y234H	probably damaging	Het
Ddhd2	T	C	8: 26,244,495 (GRCm39)	S44G	probably benign	Het
Dync2i2	G	T	2: 29,922,211 (GRCm39)	H417N	probably benign	Het
Farp1	A	G	14: 121,492,988 (GRCm39)	E530G	probably damaging	Het
Fhad1	C	T	4: 141,646,058 (GRCm39)		probably null	Het
Foxj3	T	A	4: 119,477,538 (GRCm39)	C449*	probably null	Het
Fsbp	G	C	4: 11,584,005 (GRCm39)	V235L	probably benign	Het
Fuom	T	C	7: 139,681,252 (GRCm39)	E73G	probably benign	Het
Gm5134	A	G	10: 75,844,645 (GRCm39)	H667R	probably damaging	Het
Igsf21	A	G	4: 139,756,028 (GRCm39)	I361T	probably damaging	Het
Iws1	G	A	18: 32,213,213 (GRCm39)	E214K	possibly damaging	Het
Kmt2d	A	T	15: 98,749,896 (GRCm39)	V2599E	unknown	Het
Lama1	T	A	17: 68,111,514 (GRCm39)	M2255K		Het
Litafd	C	A	16: 8,501,647 (GRCm39)	P50T		Het
Lrrc32	A	G	7: 98,148,234 (GRCm39)	H338R	probably benign	Het
Map1b	C	A	13: 99,571,914 (GRCm39)	R269L	probably damaging	Het
Ms4a5	T	A	19: 11,256,733 (GRCm39)	I55F	probably damaging	Het
Muc5b	G	C	7: 141,411,939 (GRCm39)	L1628F	unknown	Het
Myo6	A	G	9: 80,195,384 (GRCm39)	Q918R	unknown	Het
Or1e25	T	A	11: 73,493,877 (GRCm39)	M157K	probably benign	Het
Or5m11b	T	A	2: 85,805,884 (GRCm39)	I99N	possibly damaging	Het
Or9i1b	T	G	19: 13,896,967 (GRCm39)	N194K	probably benign	Het
Pals2	A	G	6: 50,157,219 (GRCm39)	R296G	probably damaging	Het
Plin5	A	G	17: 56,419,462 (GRCm39)	V320A	probably damaging	Het
Ptx4	A	T	17: 25,342,257 (GRCm39)	Q244L	possibly damaging	Het
Rab3gap1	A	G	1: 127,858,495 (GRCm39)	T535A	probably benign	Het
Ranbp2	T	C	10: 58,313,117 (GRCm39)	F1279S	probably damaging	Het
Rgl1	T	C	1: 152,428,362 (GRCm39)	H254R	probably damaging	Het
Rida	C	T	15: 34,487,909 (GRCm39)	A69T	probably damaging	Het
Scn2a	T	C	2: 65,511,346 (GRCm39)	F131L	probably benign	Het
Septin1	T	C	7: 126,816,092 (GRCm39)	I141V	probably benign	Het
Slc10a6	A	G	5: 103,765,571 (GRCm39)	S171P	probably damaging	Het
Slc18a1	A	G	8: 69,519,790 (GRCm39)		probably null	Het
Slc38a6	T	C	12: 73,388,526 (GRCm39)	S247P	possibly damaging	Het
Tet2	A	T	3: 133,187,147 (GRCm39)	I1094K	possibly damaging	Het
Tmem234	C	T	4: 129,501,333 (GRCm39)	S138L	probably benign	Het
Trpv1	T	A	11: 73,145,148 (GRCm39)		probably null	Het
Vmn2r60	T	A	7: 41,844,935 (GRCm39)	M766K	probably damaging	Het
Vmn2r84	T	C	10: 130,226,843 (GRCm39)	N332D	probably benign	Het
Zfp292	A	T	4: 34,819,563 (GRCm39)	I258N	probably damaging	Het
Zxdc	A	G	6: 90,375,773 (GRCm39)	K750E	probably 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
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
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'- GACACCACCATGTCCTTCTCAG -3'
(R):5'- ACAGGGTTTGTCTCCTCCTG -3'

Sequencing Primer
(F):5'- ACCATGTCCTTCTCAGGGGTG -3'
(R):5'- GATCTTTGGATGGCTTCATGTTCACC -3'

Posted On

2022-02-07