Mutagenetix > Incidental Mutation

Incidental Mutation 'R1604:Or8d2'

176340

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

MMRRC Submission

039641-MU

Accession Numbers

Essential gene?

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

Stock #

R1604 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

38759412-38760338 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 38760000 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Valine at position 197 (F197V)

Ref Sequence

ENSEMBL: ENSMUSP00000149849 (fasta)

Gene Model

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

AlphaFold

Q7TRB8

Predicted Effect

probably benign
Transcript: ENSMUST00000072977
AA Change: F197V

PolyPhen 2 Score 0.038 (Sensitivity: 0.94; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000072744
Gene: ENSMUSG00000062103
AA Change: F197V

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 benign
Transcript: ENSMUST00000217350
AA Change: F197V

PolyPhen 2 Score 0.038 (Sensitivity: 0.94; Specificity: 0.82)

Coding Region Coverage

1x: 99.0%
3x: 98.0%
10x: 95.3%
20x: 89.1%

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: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aldoart2	A	G	12: 55,612,405 (GRCm39)	D110G	probably damaging	Het
Angptl2	T	C	2: 33,133,785 (GRCm39)	M369T	possibly damaging	Het
Anks3	C	T	16: 4,766,117 (GRCm39)	V151M	probably damaging	Het
Arl6ip6	T	C	2: 53,082,508 (GRCm39)	L125P	probably damaging	Het
Bmp1	T	C	14: 70,745,444 (GRCm39)	Q247R	possibly damaging	Het
Ccdc30	A	G	4: 119,188,793 (GRCm39)	I491T	probably damaging	Het
Cdhr1	T	A	14: 36,817,050 (GRCm39)	I104F	probably benign	Het
Cdk17	G	T	10: 93,068,360 (GRCm39)	M372I	probably damaging	Het
Cyp2c54	A	G	19: 40,058,787 (GRCm39)	V215A	probably benign	Het
D430041D05Rik	T	A	2: 104,035,487 (GRCm39)	I1614F	probably damaging	Het
Ddx55	A	G	5: 124,697,369 (GRCm39)	N244D	probably damaging	Het
Dop1b	G	T	16: 93,559,458 (GRCm39)	V617F	probably benign	Het
Erbb4	G	T	1: 68,385,728 (GRCm39)	A287E	possibly damaging	Het
Fmnl2	A	G	2: 52,995,549 (GRCm39)	E424G	probably damaging	Het
Gad2	T	C	2: 22,513,852 (GRCm39)		probably null	Het
Gm17421	G	A	12: 113,333,155 (GRCm39)		noncoding transcript	Het
Gm9894	T	A	13: 67,913,008 (GRCm39)		noncoding transcript	Het
Gnpat	T	C	8: 125,603,700 (GRCm39)	S193P	probably damaging	Het
Gpr20	C	T	15: 73,567,853 (GRCm39)	V179M	probably damaging	Het
Hdgf	T	A	3: 87,821,347 (GRCm39)		probably null	Het
Itgb8	A	T	12: 119,166,265 (GRCm39)	L89M	probably damaging	Het
Lnx2	T	C	5: 146,966,135 (GRCm39)	D328G	probably benign	Het
Lrguk	A	G	6: 34,049,305 (GRCm39)	T341A	possibly damaging	Het
Map1b	A	G	13: 99,566,080 (GRCm39)	S2214P	unknown	Het
Mms22l	T	C	4: 24,502,804 (GRCm39)	F131L	probably damaging	Het
Msmo1	A	G	8: 65,180,689 (GRCm39)	I75T	probably damaging	Het
Or10d1c	A	T	9: 38,893,914 (GRCm39)	M142K	probably benign	Het
Or2a56	G	A	6: 42,932,650 (GRCm39)	A73T	possibly damaging	Het
Or51k1	G	T	7: 103,661,162 (GRCm39)	A249E	probably damaging	Het
Or8c13	A	G	9: 38,091,645 (GRCm39)	V158A	probably benign	Het
Pkhd1l1	C	T	15: 44,330,763 (GRCm39)	R113*	probably null	Het
Polr2m	T	C	9: 71,390,959 (GRCm39)	D81G	probably damaging	Het
Ppp1r15b	T	A	1: 133,060,287 (GRCm39)	M268K	probably benign	Het
Ptprcap	T	A	19: 4,206,073 (GRCm39)	L52*	probably null	Het
Rasgrp2	C	T	19: 6,457,087 (GRCm39)	T277I	possibly damaging	Het
Rrbp1	T	C	2: 143,831,310 (GRCm39)	N286D	probably damaging	Het
Scml2	G	T	X: 160,014,442 (GRCm39)	E566D	possibly damaging	Het
Scrib	A	C	15: 75,920,089 (GRCm39)	S1557A	probably damaging	Het
Sergef	C	A	7: 46,092,783 (GRCm39)	V409L	probably benign	Het
Shisal1	T	C	15: 84,290,672 (GRCm39)	M212V	probably benign	Het
Slc6a13	A	G	6: 121,309,328 (GRCm39)	M280V	probably benign	Het
Slc9a8	C	T	2: 167,313,352 (GRCm39)	P409S	probably benign	Het
Smarca4	CGAGGAGGAGGAGGAGG	CGAGGAGGAGGAGG	9: 21,612,239 (GRCm39)		probably benign	Het
Spc25	T	C	2: 69,035,498 (GRCm39)	D4G	probably damaging	Het
Specc1	C	T	11: 61,933,883 (GRCm39)	R88C	probably damaging	Het
Srsf11	C	T	3: 157,724,948 (GRCm39)		probably null	Het
Stt3b	T	C	9: 115,079,995 (GRCm39)	E639G	probably damaging	Het
Sult3a1	A	C	10: 33,742,616 (GRCm39)	E81A	probably damaging	Het
Taf1b	G	A	12: 24,606,623 (GRCm39)	G481D	probably benign	Het
Tgm4	T	C	9: 122,874,129 (GRCm39)	V123A	probably benign	Het
Tie1	G	T	4: 118,331,604 (GRCm39)	H973N	probably damaging	Het
Tmem117	C	T	15: 94,992,425 (GRCm39)	R362W	probably damaging	Het
Txnip	A	T	3: 96,466,277 (GRCm39)	Q107L	probably benign	Het
Ubap2	C	T	4: 41,199,872 (GRCm39)	A752T	probably benign	Het
Vcan	A	G	13: 89,837,780 (GRCm39)	V1628A	probably benign	Het
Vmn2r115	T	A	17: 23,564,245 (GRCm39)	M139K	probably benign	Het
Wwp1	A	G	4: 19,659,709 (GRCm39)	V193A	probably benign	Het
Zcchc8	C	T	5: 123,838,721 (GRCm39)	A606T	probably benign	Het
Zfp131	G	A	13: 120,230,316 (GRCm39)	L371F	probably damaging	Het
Zfp518b	T	C	5: 38,830,949 (GRCm39)	D352G	probably damaging	Het
Zfp784	A	G	7: 5,039,453 (GRCm39)		probably benign	Het
Zfp940	A	T	7: 29,545,500 (GRCm39)	F136I	probably benign	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
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
R5741:Or8d2	UTSW	9	38,759,899 (GRCm39)	nonsense	probably null
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'- ATTGCAGAAGGCTACCTGCTGAC -3'
(R):5'- CACAGCCATAATGTGGGAGCTACAG -3'

Sequencing Primer
(F):5'- CAAGGTCTGTTCCATAATGATGGC -3'
(R):5'- GGTGCCAAATGCTTTGGAAC -3'

Posted On

2014-04-24