Mutagenetix > Incidental Mutation

Incidental Mutation 'R8972:Or8d1'

683175

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

068806-MU

Accession Numbers

Essential gene?

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

Stock #

R8972 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

38766356-38767286 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 38767254 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Glutamic Acid at position 299 (K299E)

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: K299E

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

SMART Domains

Protein: ENSMUSP00000100467
Gene: ENSMUSG00000047667
AA Change: K299E

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

Meta Mutation Damage Score

0.1395

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.1%

Validation Efficiency

99% (70/71)

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: 75 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca13	C	T	11: 9,278,138 (GRCm39)	S3106F	probably damaging	Het
Acss1	G	T	2: 150,484,809 (GRCm39)	R145S	probably damaging	Het
Acss3	T	C	10: 106,920,783 (GRCm39)	Y109C	probably damaging	Het
Adgre4	G	T	17: 56,109,189 (GRCm39)	G399C	probably damaging	Het
Alpk1	A	G	3: 127,473,232 (GRCm39)	S924P	probably damaging	Het
Anapc4	T	A	5: 53,007,884 (GRCm39)	D382E	possibly damaging	Het
Arfgef2	C	T	2: 166,709,253 (GRCm39)	A1110V	possibly damaging	Het
Arhgap20	T	C	9: 51,760,311 (GRCm39)	F721L	probably benign	Het
Arhgef39	T	C	4: 43,497,185 (GRCm39)	S269G	probably benign	Het
Asap2	C	T	12: 21,279,249 (GRCm39)	T377M	probably damaging	Het
Baiap3	G	T	17: 25,466,010 (GRCm39)	A558E	probably benign	Het
Birc6	A	C	17: 75,009,313 (GRCm39)	T4862P	probably benign	Het
Cc2d2a	A	G	5: 43,867,884 (GRCm39)	T843A	probably benign	Het
Ccdc187	A	T	2: 26,171,079 (GRCm39)	D466E	probably benign	Het
Ccdc88a	T	G	11: 29,435,888 (GRCm39)	N1270K	probably benign	Het
Cep250	C	T	2: 155,812,042 (GRCm39)	A446V	unknown	Het
Cntn1	T	G	15: 92,150,278 (GRCm39)	Y371D	probably benign	Het
Cpsf1	T	C	15: 76,481,528 (GRCm39)	D1141G	probably damaging	Het
Crebbp	C	T	16: 3,925,935 (GRCm39)	V1193I	probably benign	Het
Csf2ra	A	T	19: 61,213,597 (GRCm39)	S371T	probably null	Het
Csf2rb2	T	C	15: 78,172,115 (GRCm39)	N432D	probably benign	Het
Cul9	A	T	17: 46,854,177 (GRCm39)	L175Q	probably damaging	Het
Dlc1	T	A	8: 37,405,394 (GRCm39)	R132*	probably null	Het
Dock5	C	A	14: 68,013,749 (GRCm39)	L1324F	probably damaging	Het
Dop1a	T	C	9: 86,403,300 (GRCm39)	V36A	possibly damaging	Het
Fap	A	G	2: 62,378,927 (GRCm39)	V158A	probably benign	Het
G2e3	T	A	12: 51,410,277 (GRCm39)	S319T	possibly damaging	Het
Gatd3a	T	C	10: 78,003,323 (GRCm39)	I110V	possibly damaging	Het
Gphn	T	C	12: 78,656,013 (GRCm39)		probably null	Het
Gucy2g	A	G	19: 55,226,406 (GRCm39)	I170T	probably benign	Het
Hmgxb4	T	A	8: 75,748,466 (GRCm39)	W438R	probably damaging	Het
Igkv14-126	G	T	6: 67,873,329 (GRCm39)	G19V	probably damaging	Het
Kansl1l	C	T	1: 66,812,101 (GRCm39)	C506Y	probably damaging	Het
Kif2a	T	C	13: 107,115,543 (GRCm39)	T321A	probably damaging	Het
Krtap6-5	C	T	16: 88,844,607 (GRCm39)	R42H	unknown	Het
Map4	T	A	9: 109,864,185 (GRCm39)	M470K	probably benign	Het
Mill1	T	C	7: 17,996,982 (GRCm39)	V191A	probably benign	Het
Mki67	C	A	7: 135,297,364 (GRCm39)	A2557S	possibly damaging	Het
Mkln1	A	T	6: 31,473,681 (GRCm39)	H669L	probably damaging	Het
Mrgprb3	A	T	7: 48,293,422 (GRCm39)	V43E	possibly damaging	Het
Mucl2	T	A	15: 103,927,860 (GRCm39)		probably null	Het
Mybbp1a	T	A	11: 72,337,076 (GRCm39)	I604N	probably benign	Het
Myo18b	T	C	5: 112,841,164 (GRCm39)	T2210A	probably benign	Het
Nlrp4f	T	C	13: 65,330,749 (GRCm39)	I881M	probably benign	Het
Obscn	C	A	11: 58,943,442 (GRCm39)	A4236S	probably benign	Het
Or13a23-ps1	A	T	7: 140,119,038 (GRCm39)	M203L	unknown	Het
Or4a67	A	C	2: 88,598,630 (GRCm39)	F10V	possibly damaging	Het
Or8d2b	G	A	9: 38,789,150 (GRCm39)	R226H	probably benign	Het
Phc3	T	A	3: 31,015,926 (GRCm39)	Q83L	possibly damaging	Het
Pira2	T	C	7: 3,845,070 (GRCm39)	Y396C	probably damaging	Het
Prss3	T	A	6: 41,353,872 (GRCm39)	I24F	probably damaging	Het
Psg21	T	C	7: 18,381,293 (GRCm39)	N417D	probably benign	Het
Ros1	G	T	10: 51,999,333 (GRCm39)	R1206S	probably benign	Het
Smg9	A	T	7: 24,120,055 (GRCm39)	Q386L	probably benign	Het
Sncb	T	A	13: 54,907,772 (GRCm39)		probably null	Het
Son	AGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCG	AGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCG	16: 91,457,222 (GRCm39)		probably benign	Het
Sorl1	T	A	9: 41,957,848 (GRCm39)	I599F	probably damaging	Het
Sox6	C	A	7: 115,076,218 (GRCm39)	E807*	probably null	Het
Ssu2	G	A	6: 112,360,898 (GRCm39)	A53V	probably benign	Het
Tas2r123	T	C	6: 132,824,333 (GRCm39)	C77R	probably benign	Het
Tcta	T	C	9: 108,181,333 (GRCm39)	R117G	unknown	Het
Tiam1	G	A	16: 89,609,894 (GRCm39)	A1038V	probably damaging	Het
Tram2	A	T	1: 21,074,273 (GRCm39)		probably benign	Het
Tsku	C	A	7: 98,001,704 (GRCm39)	R209L	probably damaging	Het
Twnk	T	C	19: 45,000,149 (GRCm39)	F622L	probably damaging	Het
Ube2t	C	T	1: 134,899,670 (GRCm39)	T106I	probably damaging	Het
Usf1	C	T	1: 171,245,352 (GRCm39)	R255W	probably damaging	Het
Usp28	T	A	9: 48,949,124 (GRCm39)	L906Q	probably null	Het
Vmn2r31	T	A	7: 7,399,654 (GRCm39)	Y101F	probably benign	Het
Vmn2r42	A	G	7: 8,187,331 (GRCm39)	S814P	probably damaging	Het
Wnt2b	T	C	3: 104,858,475 (GRCm39)	R265G	possibly damaging	Het
Zfp62	T	G	11: 49,106,892 (GRCm39)	S328A	possibly damaging	Het
Zfp974	T	C	7: 27,610,589 (GRCm39)	I379V	probably benign	Het
Zmynd15	T	C	11: 70,355,065 (GRCm39)	V484A	possibly damaging	Het
Zzef1	T	C	11: 72,791,499 (GRCm39)	L2201P	probably 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
R7297:Or8d1	UTSW	9	38,767,245 (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
Z1177:Or8d1	UTSW	9	38,766,531 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CATCAAAGGGCAGGTCCAAATC -3'
(R):5'- TAGCACTGGGATATAGAGCTTGTTG -3'

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

Posted On

2021-10-11