Mutagenetix > Incidental Mutation

Incidental Mutation 'R7297:Or8d1'

566744

Institutional Source

Beutler Lab

Gene Symbol

Or8d1

Ensembl Gene

ENSMUSG00000047667

Gene Name

olfactory receptor family 8 subfamily D member 1

Synonyms

GA_x6K02T2PVTD-32550930-32551856, MOR171-9, MTPCR09, Olfr26

MMRRC Submission

045401-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.079) question?

Stock #

R7297 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

38766356-38767286 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 38767245 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Asparagine at position 296 (D296N)

Ref Sequence

ENSEMBL: ENSMUSP00000100467 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000104874] [ENSMUST00000217350]

AlphaFold

Q7TRB7

Predicted Effect

probably damaging
Transcript: ENSMUST00000104874
AA Change: D296N

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000100467
Gene: ENSMUSG00000047667
AA Change: D296N

Domain	Start	End	E-Value	Type
Pfam:7tm_4	31	308	3.8e-49	PFAM
Pfam:7tm_1	41	290	2.4e-22	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000217350

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.9%

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: 74 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca2	A	G	2: 25,332,088 (GRCm39)	D1400G	probably benign	Het
Abca6	C	T	11: 110,073,852 (GRCm39)		probably null	Het
Adh4	A	G	3: 138,134,901 (GRCm39)	I358M	possibly damaging	Het
Akap6	T	G	12: 52,934,147 (GRCm39)	D546E	probably benign	Het
Arap3	G	A	18: 38,106,616 (GRCm39)	A1409V	possibly damaging	Het
Arhgap22	C	T	14: 32,993,890 (GRCm39)	R68*	probably null	Het
Arhgef4	A	T	1: 34,846,273 (GRCm39)	D207V	probably damaging	Het
Asb15	A	G	6: 24,566,462 (GRCm39)	T472A	probably damaging	Het
Ascl1	A	T	10: 87,328,326 (GRCm39)	S209T	probably damaging	Het
Asxl1	T	C	2: 153,239,355 (GRCm39)	V382A	probably benign	Het
Atp11a	T	C	8: 12,856,774 (GRCm39)		probably null	Het
Calu	C	T	6: 29,356,554 (GRCm39)	R27*	probably null	Het
Cdh20	A	G	1: 104,898,598 (GRCm39)	T442A	probably benign	Het
Chrm3	T	A	13: 9,927,869 (GRCm39)	Q389L	probably benign	Het
Cntnap1	A	G	11: 101,079,460 (GRCm39)	T1233A	probably benign	Het
Cwc15	G	A	9: 14,421,525 (GRCm39)	C197Y	probably damaging	Het
D6Ertd527e	C	G	6: 87,088,506 (GRCm39)	T223S	unknown	Het
Dennd3	C	T	15: 73,429,459 (GRCm39)	T914I	probably damaging	Het
Dlx3	C	A	11: 95,011,276 (GRCm39)	Y43*	probably null	Het
Dnah17	A	T	11: 117,946,556 (GRCm39)		probably null	Het
Dnah17	A	G	11: 117,994,182 (GRCm39)	F1081S	probably damaging	Het
Dpp10	G	A	1: 123,281,157 (GRCm39)	Q631*	probably null	Het
Dsel	T	A	1: 111,789,506 (GRCm39)	D343V	probably damaging	Het
Efcab12	T	C	6: 115,787,997 (GRCm39)	D655G	possibly damaging	Het
Epha8	T	A	4: 136,673,224 (GRCm39)	I187L	probably damaging	Het
Exosc10	A	G	4: 148,664,834 (GRCm39)	K781E	probably damaging	Het
Exosc5	T	C	7: 25,365,751 (GRCm39)	L200P	probably benign	Het
Faiml	T	C	9: 99,111,666 (GRCm39)	E131G	probably damaging	Het
Gm5145	G	A	17: 20,790,993 (GRCm39)	V124I	probably benign	Het
Grm7	T	C	6: 110,622,974 (GRCm39)	V49A	probably benign	Het
Gtf2e1	T	C	16: 37,356,427 (GRCm39)	D35G	probably damaging	Het
Heatr1	C	T	13: 12,435,941 (GRCm39)	Q1160*	probably null	Het
Herc2	T	A	7: 55,786,406 (GRCm39)	C1584S	probably benign	Het
Hsd17b3	T	C	13: 64,224,165 (GRCm39)	I88V	probably damaging	Het
Hspa14	A	C	2: 3,499,179 (GRCm39)	L205R	possibly damaging	Het
Ifna11	A	C	4: 88,738,662 (GRCm39)	E156A	possibly damaging	Het
Krt87	T	C	15: 101,387,528 (GRCm39)	D170G	probably benign	Het
Mas1	T	C	17: 13,060,745 (GRCm39)	Y226C	probably damaging	Het
Micall1	T	C	15: 79,005,097 (GRCm39)	F190L	unknown	Het
Msi2	A	T	11: 88,370,864 (GRCm39)	L141Q	probably damaging	Het
Nfkbib	T	C	7: 28,465,768 (GRCm39)	D27G	probably benign	Het
Nlrp9b	A	G	7: 19,783,438 (GRCm39)	D927G	possibly damaging	Het
Nrg3	T	C	14: 38,092,896 (GRCm39)	D579G	probably benign	Het
Nutm1	G	A	2: 112,080,401 (GRCm39)	R505C	probably damaging	Het
Or8h6	A	T	2: 86,703,980 (GRCm39)	V29E	probably damaging	Het
Parp4	C	T	14: 56,885,138 (GRCm39)	P1406S	not run	Het
Pkib	A	T	10: 57,612,422 (GRCm39)	Q101L	possibly damaging	Het
Plat	C	T	8: 23,265,713 (GRCm39)	T252I	probably benign	Het
Ppm1d	A	T	11: 85,236,821 (GRCm39)	E533D	probably damaging	Het
Psd3	T	C	8: 68,573,686 (GRCm39)	K165R	probably damaging	Het
Psg29	T	A	7: 16,944,616 (GRCm39)	Y375*	probably null	Het
Pus7	A	T	5: 23,946,908 (GRCm39)	I644N	probably damaging	Het
Rbbp9	A	T	2: 144,385,722 (GRCm39)	M181K	probably benign	Het
Rell1	A	T	5: 64,093,418 (GRCm39)	N112K	possibly damaging	Het
Simc1	AATGCAGTCACCAAGAGATGTGATGCAGTCACCAAGAGATGTGATGCAGTCACCAAGAGATGTGATGCAGTCACCAAGAG	AATGCAGTCACCAAGAGATGTGATGCAGTCACCAAGAGATGTGATGCAGTCACCAAGAG	13: 54,673,048 (GRCm39)		probably benign	Het
Skint5	G	A	4: 113,400,131 (GRCm39)	T1184M	unknown	Het
Slc27a2	T	A	2: 126,420,866 (GRCm39)	D452E	probably damaging	Het
Slc44a4	T	A	17: 35,146,888 (GRCm39)	I489N	probably damaging	Het
Slfn14	T	A	11: 83,169,821 (GRCm39)	K608*	probably null	Het
Snx15	T	A	19: 6,170,537 (GRCm39)	I301F	probably damaging	Het
Sost	C	T	11: 101,854,929 (GRCm39)	G127R	probably damaging	Het
Stt3b	A	G	9: 115,106,025 (GRCm39)	I150T	probably damaging	Het
Susd2	T	C	10: 75,478,402 (GRCm39)	D58G	probably benign	Het
Tex46	T	G	4: 136,340,212 (GRCm39)	V99G	probably damaging	Het
Tgfbi	T	A	13: 56,779,926 (GRCm39)	F492I	possibly damaging	Het
Tmem132c	G	A	5: 127,437,281 (GRCm39)	A257T	probably benign	Het
Trim2	A	T	3: 84,117,540 (GRCm39)	I51K	probably damaging	Het
Tsn	A	T	1: 118,228,591 (GRCm39)	Y210*	probably null	Het
Umodl1	G	A	17: 31,227,639 (GRCm39)	R1324H	probably benign	Het
Utp3	G	C	5: 88,702,376 (GRCm39)		probably benign	Het
Vmn1r5	A	T	6: 56,963,204 (GRCm39)	N293I	possibly damaging	Het
Vmn2r124	A	T	17: 18,293,835 (GRCm39)	I641F	probably damaging	Het
Vmn2r84	T	C	10: 130,227,119 (GRCm39)	N240D	probably benign	Het
Wbp1l	A	G	19: 46,642,839 (GRCm39)	D264G	possibly damaging	Het

Other mutations in Or8d1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01518:Or8d1	APN	9	38,767,095 (GRCm39)	missense	probably benign	0.00
IGL01909:Or8d1	APN	9	38,767,013 (GRCm39)	nonsense	probably null
IGL02146:Or8d1	APN	9	38,766,654 (GRCm39)	missense	probably benign	0.01
IGL02229:Or8d1	APN	9	38,766,712 (GRCm39)	missense	possibly damaging	0.62
IGL02382:Or8d1	APN	9	38,766,364 (GRCm39)	missense	probably benign
IGL03007:Or8d1	APN	9	38,766,592 (GRCm39)	missense	probably damaging	1.00
IGL03118:Or8d1	APN	9	38,766,526 (GRCm39)	missense	probably damaging	1.00
PIT4403001:Or8d1	UTSW	9	38,766,676 (GRCm39)	missense	probably benign	0.39
R0590:Or8d1	UTSW	9	38,766,766 (GRCm39)	missense	probably damaging	0.99
R0862:Or8d1	UTSW	9	38,766,478 (GRCm39)	missense	possibly damaging	0.89
R1779:Or8d1	UTSW	9	38,766,846 (GRCm39)	missense	possibly damaging	0.55
R1796:Or8d1	UTSW	9	38,766,820 (GRCm39)	missense	probably benign	0.01
R2083:Or8d1	UTSW	9	38,766,637 (GRCm39)	missense	probably benign	0.10
R3420:Or8d1	UTSW	9	38,766,621 (GRCm39)	missense	possibly damaging	0.92
R3421:Or8d1	UTSW	9	38,766,621 (GRCm39)	missense	possibly damaging	0.92
R4328:Or8d1	UTSW	9	38,767,132 (GRCm39)	missense	possibly damaging	0.62
R4470:Or8d1	UTSW	9	38,766,927 (GRCm39)	missense	probably damaging	1.00
R4471:Or8d1	UTSW	9	38,766,927 (GRCm39)	missense	probably damaging	1.00
R5047:Or8d1	UTSW	9	38,766,585 (GRCm39)	missense	probably benign	0.36
R5267:Or8d1	UTSW	9	38,767,101 (GRCm39)	missense	probably damaging	1.00
R5318:Or8d1	UTSW	9	38,766,744 (GRCm39)	missense	probably damaging	1.00
R6502:Or8d1	UTSW	9	38,766,933 (GRCm39)	missense	probably damaging	0.99
R7221:Or8d1	UTSW	9	38,766,538 (GRCm39)	missense	probably damaging	1.00
R7448:Or8d1	UTSW	9	38,766,412 (GRCm39)	missense	probably damaging	1.00
R7525:Or8d1	UTSW	9	38,766,534 (GRCm39)	missense	possibly damaging	0.89
R8040:Or8d1	UTSW	9	38,766,460 (GRCm39)	missense	probably damaging	0.99
R8303:Or8d1	UTSW	9	38,766,837 (GRCm39)	missense	probably damaging	1.00
R8972:Or8d1	UTSW	9	38,767,254 (GRCm39)	missense	probably damaging	1.00
Z1177:Or8d1	UTSW	9	38,766,531 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TCATCAAAGGGCAGGTCCAAATC -3'
(R):5'- AGCACTGGGATATAGAGCTTGTTG -3'

Sequencing Primer
(F):5'- AGGGCAGGTCCAAATCCTTTG -3'
(R):5'- GAGCTTGTTGAAAACACAGGATTGTC -3'

Posted On

2019-06-26