Mutagenetix > Incidental Mutation

Incidental Mutation 'R2263:Or1ad6'

243932

Institutional Source

Beutler Lab

Gene Symbol

Or1ad6

Ensembl Gene

ENSMUSG00000050343

Gene Name

olfactory receptor family 1 subfamily AD member 6

Synonyms

Olfr1378, GA_x6K02T2QP88-4469162-4468215, MOR129-2

MMRRC Submission

040263-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.082) question?

Stock #

R2263 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

50859847-50860794 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 50860696 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Isoleucine at position 284 (V284I)

Ref Sequence

ENSEMBL: ENSMUSP00000149432 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000052285] [ENSMUST00000213259]

AlphaFold

Q8VGH0

Predicted Effect

possibly damaging
Transcript: ENSMUST00000052285
AA Change: V284I

PolyPhen 2 Score 0.754 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000058119
Gene: ENSMUSG00000050343
AA Change: V284I

Domain	Start	End	E-Value	Type
Pfam:7tm_4	31	307	5.1e-54	PFAM
Pfam:7tm_1	41	289	1.4e-22	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000213259
AA Change: V284I

PolyPhen 2 Score 0.754 (Sensitivity: 0.85; Specificity: 0.92)

Meta Mutation Damage Score

0.1795

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.1%
20x: 94.5%

Validation Efficiency

98% (57/58)

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
Abca13	T	C	11: 9,224,702 (GRCm39)	S472P	probably benign	Het
Armh3	A	G	19: 45,920,788 (GRCm39)		probably null	Het
Arsi	T	C	18: 61,049,737 (GRCm39)	Y207H	probably damaging	Het
Atp2b4	C	T	1: 133,654,271 (GRCm39)	R778Q	probably benign	Het
Bdp1	T	A	13: 100,202,545 (GRCm39)	D693V	probably damaging	Het
Car12	C	A	9: 66,654,913 (GRCm39)	Y114*	probably null	Het
Col1a2	G	A	6: 4,518,822 (GRCm39)		probably benign	Het
Col4a1	A	G	8: 11,362,586 (GRCm39)		probably benign	Het
Cryl1	G	T	14: 57,523,865 (GRCm39)	Y232*	probably null	Het
Dnah11	T	A	12: 117,843,760 (GRCm39)	M4362L	probably benign	Het
Dnah11	T	C	12: 117,930,374 (GRCm39)	T3324A	probably damaging	Het
Dnah8	A	G	17: 30,892,809 (GRCm39)	N798S	probably damaging	Het
Dok4	A	T	8: 95,593,140 (GRCm39)	C182S	probably damaging	Het
Ehbp1	A	T	11: 22,045,462 (GRCm39)	N737K	probably benign	Het
Eif2b4	T	C	5: 31,349,918 (GRCm39)		probably benign	Het
Elp1	A	G	4: 56,755,298 (GRCm39)		probably null	Het
Fat4	T	C	3: 38,943,138 (GRCm39)	V677A	possibly damaging	Het
Fbn2	A	G	18: 58,228,248 (GRCm39)		probably benign	Het
Fbxl3	G	T	14: 103,320,648 (GRCm39)	Y314*	probably null	Het
Fgf12	T	A	16: 28,008,363 (GRCm39)	K84*	probably null	Het
Flt3	G	A	5: 147,284,873 (GRCm39)	P748L	probably benign	Het
Folh1	C	T	7: 86,368,973 (GRCm39)	S685N	probably benign	Het
Gpr65	A	T	12: 98,241,494 (GRCm39)	N49I	probably damaging	Het
Hdac7	A	G	15: 97,708,732 (GRCm39)		probably null	Het
Heatr5a	A	T	12: 51,962,933 (GRCm39)	V989E	probably damaging	Het
Kif12	A	G	4: 63,087,758 (GRCm39)	S242P	probably benign	Het
Ltbp3	G	A	19: 5,804,050 (GRCm39)	R854Q	probably benign	Het
Mia3	A	G	1: 183,115,647 (GRCm39)	Y295H	probably benign	Het
Nell1	C	T	7: 50,210,569 (GRCm39)	T494I	possibly damaging	Het
Nmur2	A	T	11: 55,920,387 (GRCm39)	V286E	probably damaging	Het
Or1e1	T	A	11: 73,245,131 (GRCm39)	L184Q	possibly damaging	Het
Or51t4	T	C	7: 102,598,464 (GRCm39)	F254S	probably damaging	Het
Pcdh1	A	T	18: 38,331,710 (GRCm39)	L431H	probably benign	Het
Pramel31	A	G	4: 144,090,111 (GRCm39)	I384V	probably benign	Het
Prex1	A	T	2: 166,430,988 (GRCm39)		probably benign	Het
Prim1	T	A	10: 127,851,132 (GRCm39)	D5E	probably benign	Het
Rubcnl	A	T	14: 75,278,260 (GRCm39)	N348I	possibly damaging	Het
Shisa9	G	T	16: 11,802,631 (GRCm39)	A63S	possibly damaging	Het
Shpk	G	A	11: 73,097,319 (GRCm39)		probably benign	Het
Slx4ip	T	C	2: 136,885,935 (GRCm39)	I85T	probably damaging	Het
Sptbn4	T	A	7: 27,133,782 (GRCm39)	D77V	probably damaging	Het
Strn3	A	T	12: 51,690,006 (GRCm39)		probably null	Het
Synrg	T	C	11: 83,867,978 (GRCm39)	M61T	possibly damaging	Het
Tekt4	T	A	17: 25,695,485 (GRCm39)	S439R	possibly damaging	Het
Ticam1	A	T	17: 56,578,888 (GRCm39)	V69E	possibly damaging	Het
Trpv1	C	T	11: 73,132,508 (GRCm39)	A374V	probably damaging	Het
Ubqln3	A	T	7: 103,790,842 (GRCm39)	L416*	probably null	Het
Uqcrfs1	G	A	13: 30,725,090 (GRCm39)	S150L	probably benign	Het
Utp15	T	C	13: 98,394,433 (GRCm39)	N153S	probably benign	Het
Vmn2r63	G	T	7: 42,578,031 (GRCm39)	T169N	probably benign	Het
Vps13b	T	A	15: 35,646,327 (GRCm39)	V1477E	probably benign	Het
Wdr87-ps	T	C	7: 29,231,987 (GRCm39)		noncoding transcript	Het
Xpo1	T	A	11: 23,234,634 (GRCm39)		probably null	Het
Xpo5	A	G	17: 46,541,269 (GRCm39)	I769V	probably benign	Het
Zc3h14	A	T	12: 98,724,773 (GRCm39)	H252L	probably benign	Het
Zfp410	G	T	12: 84,369,794 (GRCm39)		probably null	Het
Zfp521	T	C	18: 13,979,297 (GRCm39)	E372G	possibly damaging	Het

Other mutations in Or1ad6

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00972:Or1ad6	APN	11	50,859,946 (GRCm39)	missense	probably benign	0.00
PIT4243001:Or1ad6	UTSW	11	50,860,379 (GRCm39)	missense	probably damaging	1.00
R0540:Or1ad6	UTSW	11	50,860,670 (GRCm39)	missense	possibly damaging	0.96
R0607:Or1ad6	UTSW	11	50,860,670 (GRCm39)	missense	possibly damaging	0.96
R0699:Or1ad6	UTSW	11	50,860,645 (GRCm39)	missense	probably damaging	1.00
R0719:Or1ad6	UTSW	11	50,860,761 (GRCm39)	nonsense	probably null
R2117:Or1ad6	UTSW	11	50,860,147 (GRCm39)	missense	probably damaging	0.98
R3402:Or1ad6	UTSW	11	50,859,895 (GRCm39)	missense	probably benign
R3767:Or1ad6	UTSW	11	50,860,385 (GRCm39)	missense	probably damaging	1.00
R3768:Or1ad6	UTSW	11	50,860,385 (GRCm39)	missense	probably damaging	1.00
R3769:Or1ad6	UTSW	11	50,860,385 (GRCm39)	missense	probably damaging	1.00
R4293:Or1ad6	UTSW	11	50,860,253 (GRCm39)	missense	probably damaging	1.00
R4409:Or1ad6	UTSW	11	50,860,223 (GRCm39)	missense	probably damaging	1.00
R4446:Or1ad6	UTSW	11	50,860,690 (GRCm39)	missense	probably damaging	1.00
R4731:Or1ad6	UTSW	11	50,860,093 (GRCm39)	missense	possibly damaging	0.78
R4732:Or1ad6	UTSW	11	50,860,093 (GRCm39)	missense	possibly damaging	0.78
R4733:Or1ad6	UTSW	11	50,860,093 (GRCm39)	missense	possibly damaging	0.78
R5437:Or1ad6	UTSW	11	50,859,935 (GRCm39)	missense	probably benign	0.02
R6085:Or1ad6	UTSW	11	50,859,950 (GRCm39)	missense
R6648:Or1ad6	UTSW	11	50,860,000 (GRCm39)	missense	probably damaging	1.00
R7419:Or1ad6	UTSW	11	50,860,152 (GRCm39)	nonsense	probably null
R7686:Or1ad6	UTSW	11	50,860,582 (GRCm39)	missense	possibly damaging	0.92
R8440:Or1ad6	UTSW	11	50,860,024 (GRCm39)	missense	probably damaging	1.00
R9408:Or1ad6	UTSW	11	50,860,613 (GRCm39)	missense	probably damaging	1.00
R9451:Or1ad6	UTSW	11	50,859,950 (GRCm39)	missense
R9663:Or1ad6	UTSW	11	50,860,165 (GRCm39)	missense	probably benign	0.15
R9711:Or1ad6	UTSW	11	50,860,316 (GRCm39)	missense	probably damaging	1.00
X0011:Or1ad6	UTSW	11	50,860,481 (GRCm39)	missense	probably benign	0.02

Predicted Primers

PCR Primer
(F):5'- GGGTATATTCTCTCCAATGTGCTG -3'
(R):5'- GTGTGGCACTTAAAGATGGC -3'

Sequencing Primer
(F):5'- GCTGAAGTTCCCATCTATTCAGGG -3'
(R):5'- TGGCAACATGAGTAAGAAATACAATC -3'

Posted On

2014-10-16