Mutagenetix > Incidental Mutation

Incidental Mutation 'R1443:Or2ad1'

158669

Institutional Source

Beutler Lab

Gene Symbol

Or2ad1

Ensembl Gene

ENSMUSG00000045474

Gene Name

olfactory receptor family 2 subfamily AD member 1

Synonyms

MOR256-15, Olfr1368, GA_x6K02T2QHY8-12104556-12105500

MMRRC Submission

039498-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.111) question?

Stock #

R1443 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

21326281-21327225 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 21326337 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Isoleucine at position 297 (V297I)

Ref Sequence

ENSEMBL: ENSMUSP00000149549 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000055298] [ENSMUST00000216039]

AlphaFold

Q8VFG3

Predicted Effect

probably benign
Transcript: ENSMUST00000055298
AA Change: V297I

PolyPhen 2 Score 0.163 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000050942
Gene: ENSMUSG00000045474
AA Change: V297I

Domain	Start	End	E-Value	Type
Pfam:7tm_4	31	308	4.8e-49	PFAM
Pfam:7tm_1	41	290	1.6e-20	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000206267

Predicted Effect

probably benign
Transcript: ENSMUST00000216039
AA Change: V297I

PolyPhen 2 Score 0.163 (Sensitivity: 0.92; Specificity: 0.87)

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 98.8%
3x: 97.7%
10x: 94.2%
20x: 85.7%

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: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Actr8	A	G	14: 29,706,056 (GRCm39)	M99V	possibly damaging	Het
Adamtsl2	T	A	2: 26,993,078 (GRCm39)	C703S	possibly damaging	Het
Afap1	G	T	5: 36,126,005 (GRCm39)	K333N	probably damaging	Het
Aldh3a2	G	A	11: 61,155,133 (GRCm39)	S137L	probably damaging	Het
Alkbh2	C	T	5: 114,262,287 (GRCm39)	E148K	probably damaging	Het
Aoc1	A	T	6: 48,882,379 (GRCm39)	K107M	possibly damaging	Het
Aoc1l1	A	T	6: 48,952,849 (GRCm39)	Y258F	probably damaging	Het
Bltp2	T	A	11: 78,153,624 (GRCm39)	S56R	probably damaging	Het
Bmp8a	G	T	4: 123,210,758 (GRCm39)	S252R	possibly damaging	Het
C7	T	C	15: 5,088,901 (GRCm39)	I13M	probably benign	Het
Cblb	T	A	16: 51,959,974 (GRCm39)	D322E	possibly damaging	Het
Cfap54	G	A	10: 92,768,583 (GRCm39)	T180I	probably damaging	Het
Clrn2	C	T	5: 45,617,453 (GRCm39)	A108V	probably damaging	Het
Cspg4	T	A	9: 56,793,796 (GRCm39)	D510E	probably damaging	Het
Cyp2c40	A	T	19: 39,766,415 (GRCm39)	N393K	possibly damaging	Het
Dcaf5	T	C	12: 80,410,843 (GRCm39)	Y294C	probably damaging	Het
Dclk3	T	A	9: 111,298,088 (GRCm39)	M544K	probably benign	Het
Ell3	A	T	2: 121,269,946 (GRCm39)	F388I	probably damaging	Het
Fam78b	A	G	1: 166,906,329 (GRCm39)	I163V	probably damaging	Het
Gnptab	T	C	10: 88,269,943 (GRCm39)	L882P	probably damaging	Het
Herc2	A	T	7: 55,854,481 (GRCm39)	D3802V	possibly damaging	Het
Hs3st5	A	G	10: 36,709,410 (GRCm39)	E315G	probably benign	Het
Idh3b	A	T	2: 130,125,974 (GRCm39)		probably null	Het
Lama4	G	A	10: 38,949,639 (GRCm39)	E911K	probably damaging	Het
Macf1	A	G	4: 123,404,800 (GRCm39)	I436T	probably damaging	Het
Mgam	C	A	6: 40,736,714 (GRCm39)	S871*	probably null	Het
Mtmr7	A	G	8: 41,013,923 (GRCm39)	S212P	probably damaging	Het
Mylk2	A	G	2: 152,761,336 (GRCm39)	T480A	probably damaging	Het
Myo3a	A	T	2: 22,287,437 (GRCm39)	N191I	probably damaging	Het
Nanog	C	T	6: 122,688,734 (GRCm39)	S105F	probably damaging	Het
Nanos2	A	G	7: 18,721,564 (GRCm39)	Y12C	probably damaging	Het
Nsg1	C	T	5: 38,312,987 (GRCm39)	V71I	probably benign	Het
Or10g3	A	T	14: 52,610,408 (GRCm39)	I34N	probably damaging	Het
Or13a1	T	C	6: 116,471,386 (GRCm39)	L272S	probably benign	Het
Or51a42	A	T	7: 103,707,930 (GRCm39)	I293N	probably damaging	Het
Or5b105	G	T	19: 13,080,568 (GRCm39)	Y33*	probably null	Het
Pcdhb17	A	G	18: 37,619,701 (GRCm39)	Q497R	probably benign	Het
Pcsk7	C	A	9: 45,837,284 (GRCm39)	P536Q	probably damaging	Het
Phactr4	G	A	4: 132,104,559 (GRCm39)	T256I	probably benign	Het
Phyhip	A	G	14: 70,704,731 (GRCm39)	K317E	probably damaging	Het
Pkhd1	C	T	1: 20,604,782 (GRCm39)	G1178R	probably damaging	Het
Ppp1r9a	G	A	6: 5,057,557 (GRCm39)	G544D	probably damaging	Het
Ptpn3	T	C	4: 57,225,775 (GRCm39)	D480G	probably benign	Het
Ptprn2	A	T	12: 117,217,235 (GRCm39)	K918N	probably damaging	Het
Rab42	T	C	4: 132,029,658 (GRCm39)	D188G	probably benign	Het
Rasgrf2	C	A	13: 92,131,795 (GRCm39)	D20Y	probably damaging	Het
Ryr2	G	A	13: 11,794,152 (GRCm39)	T942I	probably benign	Het
Sbpl	T	C	17: 24,172,328 (GRCm39)	K197R	unknown	Het
Slc44a1	T	A	4: 53,561,069 (GRCm39)	V595E	probably damaging	Het
Slc6a19	A	G	13: 73,832,463 (GRCm39)	M410T	probably damaging	Het
Sntb1	A	T	15: 55,511,351 (GRCm39)	L411H	probably damaging	Het
Synj2	A	G	17: 6,073,940 (GRCm39)	K245E	probably damaging	Het
Tasor2	T	C	13: 3,625,543 (GRCm39)	K1469R	probably benign	Het
Tmem131	G	A	1: 36,864,559 (GRCm39)	T558I	probably damaging	Het
Tnrc18	A	T	5: 142,757,288 (GRCm39)	S1078T	unknown	Het
Trmu	T	A	15: 85,781,302 (GRCm39)		probably null	Het
Ttn	A	T	2: 76,721,430 (GRCm39)		probably benign	Het
Tyw3	T	C	3: 154,293,160 (GRCm39)	T172A	probably benign	Het
Vldlr	T	C	19: 27,217,121 (GRCm39)	I348T	possibly damaging	Het
Zfp114	A	G	7: 23,877,194 (GRCm39)	D12G	probably damaging	Het

Other mutations in Or2ad1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL03354:Or2ad1	APN	13	21,326,654 (GRCm39)	missense	probably damaging	1.00
IGL03385:Or2ad1	APN	13	21,326,657 (GRCm39)	missense	probably benign	0.01
R0137:Or2ad1	UTSW	13	21,326,336 (GRCm39)	missense	possibly damaging	0.86
R1168:Or2ad1	UTSW	13	21,326,787 (GRCm39)	missense	probably benign	0.04
R1212:Or2ad1	UTSW	13	21,326,337 (GRCm39)	missense	probably benign	0.16
R1214:Or2ad1	UTSW	13	21,326,337 (GRCm39)	missense	probably benign	0.16
R1237:Or2ad1	UTSW	13	21,326,337 (GRCm39)	missense	probably benign	0.16
R1238:Or2ad1	UTSW	13	21,326,337 (GRCm39)	missense	probably benign	0.16
R1239:Or2ad1	UTSW	13	21,326,337 (GRCm39)	missense	probably benign	0.16
R1280:Or2ad1	UTSW	13	21,326,337 (GRCm39)	missense	probably benign	0.16
R1309:Or2ad1	UTSW	13	21,326,337 (GRCm39)	missense	probably benign	0.16
R1436:Or2ad1	UTSW	13	21,327,162 (GRCm39)	missense	probably benign	0.01
R1444:Or2ad1	UTSW	13	21,326,337 (GRCm39)	missense	probably benign	0.16
R1602:Or2ad1	UTSW	13	21,326,820 (GRCm39)	missense	probably damaging	0.99
R1627:Or2ad1	UTSW	13	21,327,125 (GRCm39)	missense	probably damaging	0.99
R1649:Or2ad1	UTSW	13	21,326,912 (GRCm39)	missense	probably damaging	1.00
R1781:Or2ad1	UTSW	13	21,326,934 (GRCm39)	missense	probably benign	0.08
R1858:Or2ad1	UTSW	13	21,326,564 (GRCm39)	missense	probably damaging	1.00
R2520:Or2ad1	UTSW	13	21,326,746 (GRCm39)	nonsense	probably null
R4873:Or2ad1	UTSW	13	21,326,450 (GRCm39)	missense	probably damaging	1.00
R4875:Or2ad1	UTSW	13	21,326,450 (GRCm39)	missense	probably damaging	1.00
R5009:Or2ad1	UTSW	13	21,326,435 (GRCm39)	missense	probably benign	0.01
R6222:Or2ad1	UTSW	13	21,327,047 (GRCm39)	missense	probably damaging	1.00
R7031:Or2ad1	UTSW	13	21,327,170 (GRCm39)	missense	probably benign
R7126:Or2ad1	UTSW	13	21,326,888 (GRCm39)	missense	probably damaging	1.00
R7691:Or2ad1	UTSW	13	21,327,140 (GRCm39)	missense	probably benign
R7875:Or2ad1	UTSW	13	21,327,093 (GRCm39)	missense	probably damaging	1.00
R7966:Or2ad1	UTSW	13	21,326,356 (GRCm39)	nonsense	probably null
R8015:Or2ad1	UTSW	13	21,326,303 (GRCm39)	missense	probably benign
R8155:Or2ad1	UTSW	13	21,327,062 (GRCm39)	missense	probably damaging	1.00
R8247:Or2ad1	UTSW	13	21,326,295 (GRCm39)	missense	probably benign
R8787:Or2ad1	UTSW	13	21,326,453 (GRCm39)	missense	possibly damaging	0.93

Predicted Primers

PCR Primer
(F):5'- ATGCCAGGGAAATGGTCCTGAATG -3'
(R):5'- ACCCTGTGCTTTGCCAGAAGATG -3'

Sequencing Primer
(F):5'- ATGGTCCTGAATGAACTGATCTGC -3'
(R):5'- GCAGTTATCACTCAAGCTGTG -3'

Posted On

2014-03-14