Mutagenetix > Incidental Mutation

Incidental Mutation 'R5437:Or1ad6'

428434

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

043002-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.076) question?

Stock #

R5437 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

50859847-50860794 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 50859935 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Threonine at position 30 (M30T)

Ref Sequence

ENSEMBL: ENSMUSP00000149432 (fasta)

Gene Model

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

AlphaFold

Q8VGH0

Predicted Effect

probably benign
Transcript: ENSMUST00000052285
AA Change: M30T

PolyPhen 2 Score 0.019 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000058119
Gene: ENSMUSG00000050343
AA Change: M30T

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

probably benign
Transcript: ENSMUST00000213259
AA Change: M30T

PolyPhen 2 Score 0.019 (Sensitivity: 0.95; Specificity: 0.80)

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.1%
20x: 94.7%

Validation Efficiency

97% (63/65)

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: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca5	G	A	11: 110,210,622 (GRCm39)	Q186*	probably null	Het
Acaca	G	A	11: 84,237,646 (GRCm39)		probably null	Het
Acsm3	C	A	7: 119,377,720 (GRCm39)		probably benign	Het
Aoc1	C	A	6: 48,884,684 (GRCm39)	Q576K	probably benign	Het
Atp6v0a4	T	A	6: 38,053,668 (GRCm39)	N378I	probably damaging	Het
Cacna1i	A	T	15: 80,255,730 (GRCm39)	H871L	probably damaging	Het
Clic4	C	G	4: 134,944,557 (GRCm39)	R206P	probably damaging	Het
Commd9	G	A	2: 101,731,373 (GRCm39)	G186D	probably damaging	Het
Cpne9	C	T	6: 113,281,591 (GRCm39)		probably benign	Het
Crhr2	C	T	6: 55,077,718 (GRCm39)	V196I	probably damaging	Het
Dctn5	T	A	7: 121,732,552 (GRCm39)		probably benign	Het
Dhtkd1	C	T	2: 5,928,930 (GRCm39)	R247Q	probably benign	Het
Dmrta1	G	A	4: 89,579,993 (GRCm39)	G318R	possibly damaging	Het
Dpp6	T	A	5: 27,868,499 (GRCm39)	Y487*	probably null	Het
Eef1akmt3	A	T	10: 126,869,116 (GRCm39)	N119K	probably damaging	Het
Eloa	A	T	4: 135,740,196 (GRCm39)	L75Q	probably damaging	Het
Fat3	G	A	9: 15,996,604 (GRCm39)	T1202M	probably damaging	Het
Fcho2	A	G	13: 98,913,982 (GRCm39)	I205T	possibly damaging	Het
Fkbp10	A	C	11: 100,311,849 (GRCm39)	D174A	probably damaging	Het
Gcnt2	T	A	13: 41,014,652 (GRCm39)	F274L	probably damaging	Het
Gtf3c1	A	T	7: 125,266,540 (GRCm39)	C969S	probably damaging	Het
Hook3	T	C	8: 26,551,450 (GRCm39)	E130G	probably benign	Het
Itgb4	C	T	11: 115,874,983 (GRCm39)	R447W	probably benign	Het
Itsn1	T	A	16: 91,615,479 (GRCm39)		probably benign	Het
Kif13b	C	T	14: 65,043,563 (GRCm39)	R1788C	probably damaging	Het
Kif3a	C	T	11: 53,489,553 (GRCm39)	S135F	probably damaging	Het
Klf5	C	T	14: 99,538,895 (GRCm39)	R23*	probably null	Het
Lcn5	A	G	2: 25,548,023 (GRCm39)	I11V	probably benign	Het
Mpp7	A	T	18: 7,458,930 (GRCm39)		probably null	Het
Mroh5	T	C	15: 73,659,818 (GRCm39)	I338V	probably benign	Het
Mthfd2l	A	G	5: 91,096,757 (GRCm39)	N126S	possibly damaging	Het
Myo18b	G	T	5: 112,905,439 (GRCm39)	A2053E	possibly damaging	Het
Naip6	A	T	13: 100,439,812 (GRCm39)	C318*	probably null	Het
Ndufs7	C	T	10: 80,090,758 (GRCm39)	R116C	possibly damaging	Het
Odr4	T	G	1: 150,239,269 (GRCm39)	I385L	probably benign	Het
Pnkd	T	C	1: 74,388,896 (GRCm39)	V214A	possibly damaging	Het
Popdc2	T	G	16: 38,183,263 (GRCm39)	V82G	probably benign	Het
Prkdc	A	T	16: 15,587,739 (GRCm39)	L2541F	possibly damaging	Het
Ptpn9	A	T	9: 56,927,321 (GRCm39)	H66L	possibly damaging	Het
Pygm	T	A	19: 6,440,412 (GRCm39)	N397K	probably damaging	Het
Rabgap1l	T	A	1: 160,549,717 (GRCm39)	E324D	probably damaging	Het
Rnf6	G	A	5: 146,147,090 (GRCm39)	R643C	probably damaging	Het
Ryr2	C	T	13: 11,670,599 (GRCm39)	V3466M	probably damaging	Het
Scn7a	A	G	2: 66,506,690 (GRCm39)	Y1400H	probably damaging	Het
Septin10	T	A	10: 59,012,781 (GRCm39)	N279I	probably damaging	Het
Sh3rf2	A	T	18: 42,274,079 (GRCm39)	Y415F	probably benign	Het
Sorcs1	T	C	19: 50,241,040 (GRCm39)	T449A	probably benign	Het
Tcam1	C	T	11: 106,176,249 (GRCm39)	T325M	probably damaging	Het
Tctn1	A	G	5: 122,396,942 (GRCm39)	I147T	probably benign	Het
Tet1	G	T	10: 62,650,230 (GRCm39)	H30Q	probably benign	Het
Tmem109	A	G	19: 10,849,378 (GRCm39)	I159T	probably damaging	Het
Tmem40	C	T	6: 115,735,992 (GRCm39)		probably benign	Het
Tnfrsf21	C	T	17: 43,348,753 (GRCm39)	P122S	possibly damaging	Het
Uaca	A	G	9: 60,778,733 (GRCm39)	D1038G	probably benign	Het
Ubr2	C	G	17: 47,274,623 (GRCm39)	E852D	probably benign	Het
Ubr3	A	T	2: 69,774,734 (GRCm39)	N518I	probably damaging	Het
Unc80	T	G	1: 66,693,737 (GRCm39)	L2596R	possibly damaging	Het
Zcchc3	G	A	2: 152,256,652 (GRCm39)	P16S	probably benign	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
R2263:Or1ad6	UTSW	11	50,860,696 (GRCm39)	missense	possibly damaging	0.75
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
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'- CACGGTCACTGCAATCAAAG -3'
(R):5'- CATGTAGTTCACCAGAGCCTTGG -3'

Sequencing Primer
(F):5'- CGGTCACTGCAATCAAAGTAAAG -3'
(R):5'- CCTTGGGGACAGTGACTGAG -3'

Posted On

2016-09-01