Mutagenetix > Incidental Mutation

Incidental Mutation 'R5741:Or8d2'

444797

Institutional Source

Beutler Lab

Gene Symbol

Or8d2

Ensembl Gene

ENSMUSG00000062103

Gene Name

olfactory receptor family 8 subfamily D member 2

Synonyms

GA_x6K02T2PVTD-32543982-32544908, MOR171-47, MOR171-27P, Olfr924, MOR171-27P, Olfr1520-ps1

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.064) question?

Stock #

R5741 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

38759412-38760338 bp(+) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

T to A at 38759899 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Stop codon at position 163 (L163*)

Ref Sequence

ENSEMBL: ENSMUSP00000149849 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000072977] [ENSMUST00000217350]

AlphaFold

Q7TRB8

Predicted Effect

probably null
Transcript: ENSMUST00000072977
AA Change: L163*

SMART Domains

Protein: ENSMUSP00000072744
Gene: ENSMUSG00000062103
AA Change: L163*

Domain	Start	End	E-Value	Type
Pfam:7tm_4	28	305	4.6e-54	PFAM
Pfam:7TM_GPCR_Srsx	32	279	7.2e-7	PFAM
Pfam:7tm_1	38	287	1.6e-21	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000217350
AA Change: L163*

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.0%
20x: 94.7%

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: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1810010H24Rik	T	G	11: 106,919,315 (GRCm39)	F220C	probably damaging	Het
Acox3	C	T	5: 35,765,668 (GRCm39)	H140Y	probably benign	Het
Ano3	A	T	2: 110,488,618 (GRCm39)	I938K	probably benign	Het
Ap3m1	A	C	14: 21,095,788 (GRCm39)	I14S	possibly damaging	Het
Arg1	T	C	10: 24,793,897 (GRCm39)	T127A	probably benign	Het
Asah2	A	G	19: 31,986,015 (GRCm39)	Y552H	probably damaging	Het
Cfap97d2	A	T	8: 13,784,835 (GRCm39)	Q32L	possibly damaging	Het
Chst12	A	G	5: 140,509,688 (GRCm39)	N105S	probably benign	Het
Cped1	G	A	6: 22,123,620 (GRCm39)	V458I	probably benign	Het
Cyld	T	G	8: 89,471,474 (GRCm39)	I786S	probably damaging	Het
Cyp2j8	C	T	4: 96,332,880 (GRCm39)	V489I	probably benign	Het
Dlgap4	T	C	2: 156,552,968 (GRCm39)	Y462H	probably damaging	Het
Dnah5	C	A	15: 28,246,513 (GRCm39)	A617D	probably benign	Het
Erc2	T	A	14: 28,024,826 (GRCm39)		probably null	Het
Fancm	A	G	12: 65,148,389 (GRCm39)	N668S	probably benign	Het
Gm5592	A	G	7: 40,938,625 (GRCm39)	I636V	probably benign	Het
Gtf2h2	A	T	13: 100,617,066 (GRCm39)	C247S	probably benign	Het
Hyal5	T	A	6: 24,876,494 (GRCm39)	H122Q	probably damaging	Het
Ints10	G	A	8: 69,257,574 (GRCm39)	R258K	probably damaging	Het
Kir3dl1	G	A	X: 135,427,231 (GRCm39)	D56N	probably damaging	Het
Lrguk	T	A	6: 34,025,802 (GRCm39)	D199E	probably damaging	Het
Lyst	A	G	13: 13,808,615 (GRCm39)	D95G	probably benign	Het
Map2k1	A	T	9: 64,121,883 (GRCm39)	L30Q	possibly damaging	Het
Nell1	G	A	7: 50,210,638 (GRCm39)		probably null	Het
Nfatc3	T	A	8: 106,805,698 (GRCm39)	I181N	probably damaging	Het
Nipbl	T	C	15: 8,354,133 (GRCm39)	K1668R	possibly damaging	Het
Or5b113	A	G	19: 13,342,847 (GRCm39)	N285S	probably damaging	Het
Or7e170	A	G	9: 19,794,857 (GRCm39)	V248A	possibly damaging	Het
Otud7b	C	T	3: 96,051,615 (GRCm39)	T189I	probably damaging	Het
Pkia	A	T	3: 7,507,105 (GRCm39)	E62D	probably benign	Het
Plcb3	G	A	19: 6,931,790 (GRCm39)	Q1154*	probably null	Het
Pole4	T	C	6: 82,628,447 (GRCm39)	E105G	probably damaging	Het
Ppp1r3a	A	G	6: 14,719,882 (GRCm39)	V344A	probably damaging	Het
Ptpn21	A	T	12: 98,645,548 (GRCm39)	L1130Q	probably damaging	Het
Rapgef5	A	G	12: 117,719,764 (GRCm39)	D564G	probably damaging	Het
Samhd1	C	T	2: 156,954,751 (GRCm39)	R387H	probably benign	Het
Spag1	A	G	15: 36,183,849 (GRCm39)	K65E	possibly damaging	Het
Spata31d1d	A	T	13: 59,876,500 (GRCm39)	V345D	possibly damaging	Het
Spin1	G	A	13: 51,303,171 (GRCm39)	V255I	possibly damaging	Het
Tmem171	A	G	13: 98,828,559 (GRCm39)	V197A	probably benign	Het
Tmigd1	T	C	11: 76,797,916 (GRCm39)	V86A	possibly damaging	Het
Ttn	T	C	2: 76,542,417 (GRCm39)	D31777G	probably damaging	Het
Tymp	T	A	15: 89,260,639 (GRCm39)	M60L	probably benign	Het
Ugdh	T	C	5: 65,584,866 (GRCm39)	T19A	probably damaging	Het
Vmn1r234	G	T	17: 21,449,731 (GRCm39)	C215F	probably benign	Het
Wnt5b	T	C	6: 119,410,690 (GRCm39)	D250G	probably damaging	Het
Xrn1	T	A	9: 95,927,604 (GRCm39)	C1463S	probably benign	Het
Zfp831	T	A	2: 174,486,945 (GRCm39)	I540N	possibly damaging	Het
Zmynd8	T	C	2: 165,681,937 (GRCm39)	D189G	probably damaging	Het

Other mutations in Or8d2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01296:Or8d2	APN	9	38,759,548 (GRCm39)	missense	probably damaging	1.00
IGL01673:Or8d2	APN	9	38,760,316 (GRCm39)	missense	probably benign	0.00
IGL01769:Or8d2	APN	9	38,759,629 (GRCm39)	missense	probably benign	0.01
IGL02015:Or8d2	APN	9	38,760,090 (GRCm39)	missense	probably damaging	0.99
IGL02525:Or8d2	APN	9	38,759,536 (GRCm39)	missense	possibly damaging	0.82
IGL02728:Or8d2	APN	9	38,760,222 (GRCm39)	missense	probably damaging	1.00
IGL02944:Or8d2	APN	9	38,760,048 (GRCm39)	missense	possibly damaging	0.88
IGL03127:Or8d2	APN	9	38,759,505 (GRCm39)	missense	probably damaging	1.00
R0613:Or8d2	UTSW	9	38,759,909 (GRCm39)	nonsense	probably null
R0811:Or8d2	UTSW	9	38,759,805 (GRCm39)	missense	probably benign
R0812:Or8d2	UTSW	9	38,759,805 (GRCm39)	missense	probably benign
R1558:Or8d2	UTSW	9	38,760,200 (GRCm39)	missense	probably benign	0.00
R1604:Or8d2	UTSW	9	38,760,000 (GRCm39)	missense	probably benign	0.04
R1681:Or8d2	UTSW	9	38,759,809 (GRCm39)	missense	probably damaging	1.00
R1730:Or8d2	UTSW	9	38,760,268 (GRCm39)	missense	probably damaging	1.00
R1783:Or8d2	UTSW	9	38,760,268 (GRCm39)	missense	probably damaging	1.00
R1791:Or8d2	UTSW	9	38,759,901 (GRCm39)	missense	possibly damaging	0.75
R2144:Or8d2	UTSW	9	38,759,635 (GRCm39)	missense	probably damaging	1.00
R6521:Or8d2	UTSW	9	38,759,893 (GRCm39)	missense	probably benign
R6808:Or8d2	UTSW	9	38,760,085 (GRCm39)	missense	probably damaging	1.00
R7608:Or8d2	UTSW	9	38,759,806 (GRCm39)	missense	possibly damaging	0.63
R7741:Or8d2	UTSW	9	38,759,614 (GRCm39)	missense	probably damaging	1.00
R8153:Or8d2	UTSW	9	38,759,631 (GRCm39)	missense	possibly damaging	0.93
R8157:Or8d2	UTSW	9	38,759,762 (GRCm39)	nonsense	probably null
R8798:Or8d2	UTSW	9	38,760,213 (GRCm39)	missense	probably benign	0.04
RF004:Or8d2	UTSW	9	38,760,114 (GRCm39)	missense	probably benign	0.04

Predicted Primers

PCR Primer
(F):5'- TTTTGTTATTGCAGAAGGCTACCTG -3'
(R):5'- GCTACAGGTGCCAAATGCTTTG -3'

Sequencing Primer
(F):5'- TGCTGACAGCCATGGCCTATG -3'
(R):5'- AACGTCCTTCATTGGAGCG -3'

Posted On

2016-11-21