Mutagenetix > Incidental Mutation

Incidental Mutation 'R5817:Or8d2b'

449108

Institutional Source

Beutler Lab

Gene Symbol

Or8d2b

Ensembl Gene

ENSMUSG00000064333

Gene Name

olfactory receptor family 8 subfamily D member 2D

Synonyms

MOR171-8, Olfr926, GA_x6K02T2PVTD-32573036-32573962

MMRRC Submission

043397-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.088) question?

Stock #

R5817 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

38788474-38789400 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 38788673 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 67 (D67G)

Ref Sequence

ENSEMBL: ENSMUSP00000077405 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000078289]

AlphaFold

Q9EQ98

Predicted Effect

probably damaging
Transcript: ENSMUST00000078289
AA Change: D67G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000077405
Gene: ENSMUSG00000064333
AA Change: D67G

Domain	Start	End	E-Value	Type
Pfam:7tm_4	28	305	2.9e-53	PFAM
Pfam:7TM_GPCR_Srsx	32	282	8.6e-7	PFAM
Pfam:7tm_1	38	287	1.6e-20	PFAM

Meta Mutation Damage Score

0.3177

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.5%
20x: 95.8%

Validation Efficiency

100% (71/71)

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: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aadacl4	A	G	4: 144,349,497 (GRCm39)	I251M	probably benign	Het
Abcf3	T	C	16: 20,367,833 (GRCm39)	V63A	possibly damaging	Het
Agpat4	C	T	17: 12,434,097 (GRCm39)		probably benign	Het
Ahcyl2	G	A	6: 29,890,720 (GRCm39)	V292M	probably damaging	Het
Ahnak2	A	T	12: 112,740,437 (GRCm39)	F406I	probably damaging	Het
Aqp7	G	A	4: 41,035,510 (GRCm39)	T115I	probably benign	Het
Arhgef5	G	A	6: 43,252,038 (GRCm39)	D930N	probably benign	Het
Cc2d2a	G	A	5: 43,869,760 (GRCm39)	R887Q	probably damaging	Het
Ceacam18	A	G	7: 43,291,265 (GRCm39)	T236A	probably benign	Het
Chst15	A	T	7: 131,870,873 (GRCm39)	Y221N	probably damaging	Het
Chst15	G	A	7: 131,870,876 (GRCm39)	L220F	probably damaging	Het
Cntn2	G	A	1: 132,446,486 (GRCm39)	T784I	probably benign	Het
D630003M21Rik	A	G	2: 158,038,413 (GRCm39)	L1011P	probably damaging	Het
Dync2h1	T	A	9: 6,996,905 (GRCm39)	D3894V	probably damaging	Het
Eif1ad19	G	T	12: 87,740,201 (GRCm39)	D119E	probably benign	Het
Fam13b	T	C	18: 34,590,850 (GRCm39)	M443V	possibly damaging	Het
Fam20a	T	A	11: 109,564,244 (GRCm39)	Q503L	possibly damaging	Het
Ftdc2	T	C	16: 58,457,156 (GRCm39)	I89V	probably benign	Het
Gm11677	C	T	11: 111,615,537 (GRCm39)		noncoding transcript	Het
Gm5454	T	A	13: 103,493,140 (GRCm39)		noncoding transcript	Het
Gm5581	A	G	6: 131,144,132 (GRCm39)		noncoding transcript	Het
Gm6619	A	G	6: 131,463,400 (GRCm39)	I6V	unknown	Het
Gmcl1	A	G	6: 86,691,230 (GRCm39)	M255T	probably damaging	Het
Golm2	T	A	2: 121,736,525 (GRCm39)	S231T	probably benign	Het
Gprc5c	T	A	11: 114,754,450 (GRCm39)	C42*	probably null	Het
Hmcn1	T	A	1: 150,613,275 (GRCm39)	E1384V	possibly damaging	Het
Il6	A	G	5: 30,223,006 (GRCm39)	I91V	probably benign	Het
Kmt2d	A	T	15: 98,760,244 (GRCm39)	S1005T	unknown	Het
Map1a	A	T	2: 121,129,391 (GRCm39)	H143L	possibly damaging	Het
Mical2	A	T	7: 111,922,866 (GRCm39)	T624S	probably benign	Het
Msh3	A	T	13: 92,422,508 (GRCm39)	N549K	possibly damaging	Het
Ncr1	T	A	7: 4,343,894 (GRCm39)	I164N	possibly damaging	Het
Or10ak11	T	G	4: 118,687,296 (GRCm39)	T115P	probably damaging	Het
Or51a5	A	T	7: 102,771,115 (GRCm39)	M292K	possibly damaging	Het
Or52m1	A	G	7: 102,289,585 (GRCm39)	N44S	probably damaging	Het
Palmd	T	C	3: 116,712,272 (GRCm39)	I541M	probably benign	Het
Pcsk7	A	T	9: 45,837,331 (GRCm39)	M552L	probably benign	Het
Plekhh2	A	G	17: 84,879,154 (GRCm39)	E626G	possibly damaging	Het
Pole	G	A	5: 110,460,838 (GRCm39)	D1176N	probably damaging	Het
Polr2f	T	C	15: 79,035,869 (GRCm39)	I110T	probably damaging	Het
Pomt1	A	T	2: 32,138,691 (GRCm39)	I436F	probably damaging	Het
Prag1	A	C	8: 36,570,857 (GRCm39)	Q480P	probably damaging	Het
Qars1	C	T	9: 108,387,441 (GRCm39)		probably benign	Het
Ralgapa2	G	A	2: 146,175,406 (GRCm39)	S1797L	probably damaging	Het
Rbm26	T	C	14: 105,366,039 (GRCm39)	T832A	probably damaging	Het
Rnf169	A	G	7: 99,574,976 (GRCm39)	S540P	probably benign	Het
Serpini1	T	A	3: 75,520,631 (GRCm39)	M76K	probably benign	Het
Shq1	A	G	6: 100,550,681 (GRCm39)	L419S	probably damaging	Het
Slc25a17	G	A	15: 81,211,261 (GRCm39)	T225M	probably damaging	Het
Slc6a5	C	A	7: 49,606,239 (GRCm39)	L716I	probably benign	Het
Smc1b	A	G	15: 84,951,984 (GRCm39)	V1149A	probably damaging	Het
Trappc1	A	T	11: 69,215,060 (GRCm39)	Q26L	possibly damaging	Het
Trpm2	C	A	10: 77,801,814 (GRCm39)	G84W	probably damaging	Het
Ttn	G	A	2: 76,573,010 (GRCm39)	T24215M	probably damaging	Het
Ubn2	C	A	6: 38,456,088 (GRCm39)	T337K	probably damaging	Het
Ubr4	A	G	4: 139,196,158 (GRCm39)	K1265E	probably damaging	Het
Vmn1r214	T	G	13: 23,219,491 (GRCm39)	I328M	probably damaging	Het
Xcr1	C	T	9: 123,684,922 (GRCm39)	C280Y	possibly damaging	Het
Zc3h13	A	G	14: 75,565,572 (GRCm39)	E895G	probably damaging	Het

Other mutations in Or8d2b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01886:Or8d2b	APN	9	38,788,844 (GRCm39)	missense	probably damaging	0.97
IGL02315:Or8d2b	APN	9	38,789,353 (GRCm39)	missense	probably damaging	1.00
IGL02626:Or8d2b	APN	9	38,788,784 (GRCm39)	missense	probably benign	0.05
IGL03001:Or8d2b	APN	9	38,789,374 (GRCm39)	missense	probably benign
IGL03085:Or8d2b	APN	9	38,788,959 (GRCm39)	missense	probably benign
R0365:Or8d2b	UTSW	9	38,788,481 (GRCm39)	missense	probably benign	0.00
R0600:Or8d2b	UTSW	9	38,789,111 (GRCm39)	missense	probably damaging	0.99
R0708:Or8d2b	UTSW	9	38,788,571 (GRCm39)	missense	probably damaging	0.97
R1178:Or8d2b	UTSW	9	38,789,051 (GRCm39)	missense	probably damaging	1.00
R1762:Or8d2b	UTSW	9	38,789,081 (GRCm39)	missense	probably damaging	0.98
R1856:Or8d2b	UTSW	9	38,788,892 (GRCm39)	missense	possibly damaging	0.58
R1924:Or8d2b	UTSW	9	38,789,147 (GRCm39)	missense	probably damaging	1.00
R2267:Or8d2b	UTSW	9	38,789,359 (GRCm39)	missense	probably benign	0.00
R3729:Or8d2b	UTSW	9	38,788,547 (GRCm39)	missense	probably damaging	1.00
R4290:Or8d2b	UTSW	9	38,788,609 (GRCm39)	missense	probably damaging	1.00
R4292:Or8d2b	UTSW	9	38,788,609 (GRCm39)	missense	probably damaging	1.00
R4293:Or8d2b	UTSW	9	38,788,609 (GRCm39)	missense	probably damaging	1.00
R4295:Or8d2b	UTSW	9	38,788,609 (GRCm39)	missense	probably damaging	1.00
R4973:Or8d2b	UTSW	9	38,789,400 (GRCm39)	makesense	probably null
R5026:Or8d2b	UTSW	9	38,789,195 (GRCm39)	missense	possibly damaging	0.95
R5086:Or8d2b	UTSW	9	38,789,087 (GRCm39)	missense	probably damaging	1.00
R5103:Or8d2b	UTSW	9	38,788,872 (GRCm39)	missense	probably damaging	1.00
R5998:Or8d2b	UTSW	9	38,789,165 (GRCm39)	missense	probably damaging	0.99
R6101:Or8d2b	UTSW	9	38,788,604 (GRCm39)	missense	possibly damaging	0.95
R6105:Or8d2b	UTSW	9	38,788,604 (GRCm39)	missense	possibly damaging	0.95
R6176:Or8d2b	UTSW	9	38,788,673 (GRCm39)	missense	probably damaging	1.00
R6403:Or8d2b	UTSW	9	38,788,538 (GRCm39)	missense	probably damaging	0.97
R8116:Or8d2b	UTSW	9	38,789,026 (GRCm39)	missense	probably damaging	0.98
R8144:Or8d2b	UTSW	9	38,788,662 (GRCm39)	missense	probably damaging	1.00
R8972:Or8d2b	UTSW	9	38,789,150 (GRCm39)	missense	probably benign	0.00
R9520:Or8d2b	UTSW	9	38,789,039 (GRCm39)	missense	probably benign	0.22
R9550:Or8d2b	UTSW	9	38,788,937 (GRCm39)	missense	probably benign	0.00
R9614:Or8d2b	UTSW	9	38,789,281 (GRCm39)	missense	probably damaging	0.98
RF014:Or8d2b	UTSW	9	38,789,196 (GRCm39)	missense	probably benign	0.14
X0022:Or8d2b	UTSW	9	38,788,952 (GRCm39)	missense	possibly damaging	0.84

Predicted Primers

PCR Primer
(F):5'- GTGACTGATTTTATCCTCGAAGG -3'
(R):5'- TGGAACAGACCTTGTGGGAC -3'

Sequencing Primer
(F):5'- TCCTCGAAGGACTAACAAAACG -3'
(R):5'- ACAGACCTTGTGGGACATTAC -3'

Posted On

2016-12-20