Mutagenetix > Incidental Mutation

Incidental Mutation 'R5318:Or8d1'

405929

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

042901-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.077) question?

Stock #

R5318 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

38766356-38767286 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 38766744 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Proline to Serine at position 129 (P129S)

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: P129S

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

SMART Domains

Protein: ENSMUSP00000100467
Gene: ENSMUSG00000047667
AA Change: P129S

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: 99.1%
3x: 98.4%
10x: 96.5%
20x: 92.7%

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: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2300002M23Rik	G	A	17: 35,878,883 (GRCm39)	E74K	possibly damaging	Het
Anapc15	C	T	7: 101,547,810 (GRCm39)	P68L	probably damaging	Het
Ankfn1	A	G	11: 89,282,754 (GRCm39)	S298P	probably damaging	Het
Arfgef2	A	C	2: 166,715,891 (GRCm39)	K1393N	probably damaging	Het
Atp4a	T	A	7: 30,414,754 (GRCm39)	V181E	probably damaging	Het
Bin3	A	G	14: 70,371,961 (GRCm39)	D134G	possibly damaging	Het
Cabs1	A	G	5: 88,128,425 (GRCm39)	T359A	possibly damaging	Het
Cblb	A	T	16: 52,006,561 (GRCm39)	K754N	possibly damaging	Het
Ccdc153	A	T	9: 44,157,062 (GRCm39)	R135*	probably null	Het
Cel	T	C	2: 28,447,720 (GRCm39)	E398G	possibly damaging	Het
Clip1	G	A	5: 123,751,147 (GRCm39)		probably benign	Het
Dnase2b	C	A	3: 146,288,210 (GRCm39)	R295L	probably benign	Het
Dnm3	G	A	1: 161,839,376 (GRCm39)	Q194*	probably null	Het
Dtx2	T	A	5: 136,040,954 (GRCm39)	S120T	possibly damaging	Het
Fat3	A	T	9: 16,287,925 (GRCm39)	S533T	probably damaging	Het
Foxred2	T	C	15: 77,836,598 (GRCm39)	I306V	probably benign	Het
Gdpd5	A	T	7: 99,102,234 (GRCm39)	T278S	probably benign	Het
Gli2	T	A	1: 118,772,200 (GRCm39)	T502S	probably damaging	Het
Gm21830	A	T	2: 67,263,158 (GRCm39)		probably null	Het
Gm5617	T	A	9: 48,407,211 (GRCm39)	I115N	possibly damaging	Het
Gpr75	G	T	11: 30,842,459 (GRCm39)	A455S	probably benign	Het
Grik3	A	G	4: 125,587,929 (GRCm39)	E683G	probably damaging	Het
Grin2b	T	C	6: 135,710,916 (GRCm39)	I877V	probably damaging	Het
Gsg1l2	G	T	11: 67,673,347 (GRCm39)	C109F	possibly damaging	Het
H2-Q4	G	A	17: 35,602,287 (GRCm39)	V341I	possibly damaging	Het
Hjurp	GT	GTT	1: 88,194,246 (GRCm39)		probably null	Het
Kif5c	A	G	2: 49,561,840 (GRCm39)	K68R	probably benign	Het
Lct	T	A	1: 128,232,109 (GRCm39)	H580L	probably damaging	Het
Lrrtm4	A	G	6: 79,999,495 (GRCm39)	I302M	probably damaging	Het
Mef2b	A	T	8: 70,619,493 (GRCm39)	R228W	probably damaging	Het
Mtus2	T	A	5: 148,013,382 (GRCm39)	D58E	probably benign	Het
Myh15	T	G	16: 48,930,834 (GRCm39)	S603A	probably damaging	Het
Or1x2	T	C	11: 50,918,420 (GRCm39)	V197A	probably benign	Het
Or8s2	A	G	15: 98,276,523 (GRCm39)	I156T	possibly damaging	Het
P2rx4	G	A	5: 122,857,211 (GRCm39)	C149Y	probably null	Het
Pramel51	A	T	12: 88,142,998 (GRCm39)	C207S	probably benign	Het
Proca1	T	A	11: 78,092,683 (GRCm39)	V43E	possibly damaging	Het
Rftn1	G	T	17: 50,301,486 (GRCm39)	N454K	probably benign	Het
Rrp15	T	C	1: 186,453,743 (GRCm39)	T235A	probably benign	Het
Serpina6	T	C	12: 103,620,221 (GRCm39)	E176G	possibly damaging	Het
Shprh	T	G	10: 11,042,301 (GRCm39)	I761M	probably benign	Het
Smg1	A	T	7: 117,759,427 (GRCm39)		probably benign	Het
Snupn	T	C	9: 56,864,345 (GRCm39)	S15P	probably damaging	Het
Tbc1d15	A	T	10: 115,044,874 (GRCm39)	Y509*	probably null	Het
Tcf4	T	C	18: 69,598,501 (GRCm39)	V72A	probably benign	Het
Tdrd3	T	C	14: 87,714,899 (GRCm39)		probably null	Het
Tm9sf4	T	A	2: 153,029,576 (GRCm39)	V175D	probably benign	Het
Vmn1r201	T	C	13: 22,659,092 (GRCm39)	L102P	probably damaging	Het
Wdfy4	T	A	14: 32,800,300 (GRCm39)	N1788I	possibly damaging	Het
Xpc	A	C	6: 91,469,992 (GRCm39)	V744G	probably damaging	Het
Xrcc6	T	C	15: 81,921,708 (GRCm39)	F178L	probably damaging	Het
Zbed6	A	G	1: 133,585,853 (GRCm39)	S495P	possibly damaging	Het
Zfyve26	A	G	12: 79,317,624 (GRCm39)	V1196A	probably benign	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
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
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'- CCTCAGCAGCTTATCCTGTG -3'
(R):5'- GTAGGCACCAAGGTGTTGAAC -3'

Sequencing Primer
(F):5'- AGCAGCTTATCCTGTGTTGATC -3'
(R):5'- AGCTCATTGAGATGTGTGTTAGAAC -3'

Posted On

2016-07-22