Mutagenetix > Incidental Mutation

Incidental Mutation 'R6176:Or8d2b'

487769

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

044318-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.085) question?

Stock #

R6176 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

38788474-38789400 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 38788673 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Alanine at position 67 (D67A)

Ref Sequence

ENSEMBL: ENSMUSP00000077405 (fasta)

Gene Model

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

AlphaFold

Q9EQ98

Predicted Effect

probably damaging
Transcript: ENSMUST00000078289
AA Change: D67A

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

SMART Domains

Protein: ENSMUSP00000077405
Gene: ENSMUSG00000064333
AA Change: D67A

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

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.2%
20x: 94.9%

Validation Efficiency

97% (60/62)

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: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Akna	T	C	4: 63,295,969 (GRCm39)	Q966R	probably benign	Het
Amn	A	G	12: 111,240,590 (GRCm39)	D74G	possibly damaging	Het
Ank2	T	A	3: 126,739,120 (GRCm39)	T2255S	probably benign	Het
Ankfy1	G	A	11: 72,645,285 (GRCm39)	C788Y	probably benign	Het
Apaf1	A	G	10: 90,895,433 (GRCm39)		probably null	Het
Asl	T	A	5: 130,047,720 (GRCm39)	H82L	probably benign	Het
Atrn	A	G	2: 130,788,011 (GRCm39)	E271G	probably benign	Het
B4galnt3	A	G	6: 120,201,125 (GRCm39)	F184S	probably damaging	Het
C1s2	T	A	6: 124,602,768 (GRCm39)	H481L	probably damaging	Het
Cav2	A	G	6: 17,286,918 (GRCm39)	D58G	possibly damaging	Het
Cc2d2a	A	T	5: 43,866,455 (GRCm39)	H755L	probably benign	Het
Ccdc65	A	G	15: 98,606,433 (GRCm39)		probably null	Het
Celsr3	A	T	9: 108,705,554 (GRCm39)	Y679F	probably damaging	Het
Cep135	A	T	5: 76,772,490 (GRCm39)	Y625F	probably benign	Het
Cfhr1	A	G	1: 139,478,654 (GRCm39)	S58P	probably damaging	Het
Clip4	T	A	17: 72,113,628 (GRCm39)	C259*	probably null	Het
Cyp2j12	T	A	4: 96,029,074 (GRCm39)	Q69L	probably damaging	Het
Dock3	G	A	9: 106,790,147 (GRCm39)	T1484I	probably benign	Het
Ecscr	CCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCT	CCTGCTGCTGCTGCTGCTGCTGCTGCTGCT	18: 35,849,813 (GRCm39)		probably benign	Het
Efcab3	A	T	11: 104,683,383 (GRCm39)	I1604F	probably benign	Het
Fam43b	T	C	4: 138,122,522 (GRCm39)	D266G	probably damaging	Het
Fbxl13	T	A	5: 21,705,498 (GRCm39)	I618F	possibly damaging	Het
Gne	C	T	4: 44,053,019 (GRCm39)		probably benign	Het
Gnpat	T	A	8: 125,605,593 (GRCm39)	V321E	probably damaging	Het
Gpatch8	G	A	11: 102,378,350 (GRCm39)	A200V	unknown	Het
Grid1	C	A	14: 35,284,504 (GRCm39)	A749E	probably benign	Het
Grip2	C	T	6: 91,756,832 (GRCm39)	V540I	probably benign	Het
Ice2	C	T	9: 69,324,354 (GRCm39)	T759M	probably damaging	Het
Jrk	G	T	15: 74,578,189 (GRCm39)	N365K	possibly damaging	Het
Kank4	A	G	4: 98,653,791 (GRCm39)	I879T	probably damaging	Het
Krtap20-1	T	A	16: 88,812,288 (GRCm39)	Y24*	probably null	Het
Lao1	T	A	4: 118,819,197 (GRCm39)	M1K	probably null	Het
Mlf1	A	G	3: 67,291,927 (GRCm39)	R31G	probably damaging	Het
Nt5c3b	T	C	11: 100,330,974 (GRCm39)		probably benign	Het
Nusap1	A	G	2: 119,460,902 (GRCm39)	R132G	probably benign	Het
Or11g1	A	G	14: 50,651,847 (GRCm39)	Y282C	probably damaging	Het
Or1e16	AGCGGTCGTAGGC	AGC	11: 73,286,480 (GRCm39)		probably null	Het
Or5w20	G	A	2: 87,727,280 (GRCm39)	V254I	probably benign	Het
Paqr9	G	T	9: 95,442,828 (GRCm39)	V273L	possibly damaging	Het
Pcdha9	A	T	18: 37,131,984 (GRCm39)	D351V	probably benign	Het
Pcdhga1	A	G	18: 37,797,282 (GRCm39)	D762G	probably benign	Het
Pde3a	T	A	6: 141,444,615 (GRCm39)	L1141Q	possibly damaging	Het
Pga5	T	A	19: 10,649,149 (GRCm39)		probably null	Het
Phldb3	C	A	7: 24,326,127 (GRCm39)	R570S	probably damaging	Het
Slc22a6	A	C	19: 8,599,161 (GRCm39)	E264A	probably damaging	Het
Slc49a4	C	T	16: 35,525,167 (GRCm39)	M426I	probably benign	Het
Slit1	T	C	19: 41,626,034 (GRCm39)	K576R	probably damaging	Het
Sox21	T	C	14: 118,473,040 (GRCm39)	K3R	possibly damaging	Het
Stk32c	A	T	7: 138,700,691 (GRCm39)	D297E	probably benign	Het
Suclg1	T	C	6: 73,252,326 (GRCm39)	V323A	probably damaging	Het
Tas1r2	T	G	4: 139,396,199 (GRCm39)	C513G	probably damaging	Het
Tbc1d23	A	G	16: 56,992,152 (GRCm39)	Y603H	probably damaging	Het
Tbc1d31	T	C	15: 57,816,192 (GRCm39)	V642A	probably damaging	Het
Tle2	A	T	10: 81,423,168 (GRCm39)	D486V	probably damaging	Het
Tmem232	A	G	17: 65,792,867 (GRCm39)	I110T	probably damaging	Het
Tmem39b	A	G	4: 129,586,894 (GRCm39)	Y106H	probably damaging	Het
Trpm4	T	G	7: 44,976,100 (GRCm39)	N229T	probably damaging	Het
Tspo	A	G	15: 83,458,007 (GRCm39)	T120A	probably benign	Het
Ttc28	G	A	5: 111,371,851 (GRCm39)	A767T	probably damaging	Het
Usp53	G	A	3: 122,727,652 (GRCm39)	Q977*	probably null	Het
Vmn1r215	T	A	13: 23,260,528 (GRCm39)	D189E	probably damaging	Het
Vmn2r12	T	C	5: 109,233,866 (GRCm39)	Y782C	probably benign	Het
Vmn2r54	A	G	7: 12,349,908 (GRCm39)	L558P	probably damaging	Het
Zfp268	T	A	4: 145,350,628 (GRCm39)	C688*	probably null	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
R5817:Or8d2b	UTSW	9	38,788,673 (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
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'- AGTGACTGATTTTATCCTCGAAGG -3'
(R):5'- TGGAACAGACCTTGTGGGAC -3'

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

Posted On

2017-10-10