Mutagenetix > Incidental Mutation

Incidental Mutation 'R8178:Or1ad8'

634502

Institutional Source

Beutler Lab

Gene Symbol

Or1ad8

Ensembl Gene

ENSMUSG00000060918

Gene Name

olfactory receptor family 1 subfamily AD member 8

Synonyms

Olfr51, ID7, GA_x6K02T2QP88-4431129-4430206, MOR129-3

MMRRC Submission

067603-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.060) question?

Stock #

R8178 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

50897801-50898724 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 50898437 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Serine at position 213 (C213S)

Ref Sequence

ENSEMBL: ENSMUSP00000075832 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000076514]

AlphaFold

Q8VGG9

Predicted Effect

probably damaging
Transcript: ENSMUST00000076514
AA Change: C213S

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

SMART Domains

Protein: ENSMUSP00000075832
Gene: ENSMUSG00000060918
AA Change: C213S

Domain	Start	End	E-Value	Type
Pfam:7tm_4	31	307	3.4e-50	PFAM
Pfam:7tm_1	41	289	8.7e-26	PFAM

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 99.0%

Validation Efficiency

99% (68/69)

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: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4921513D11Rik	A	G	17: 79,935,699 (GRCm39)	I276V		Het
Acsm5	C	A	7: 119,141,618 (GRCm39)	H538N	probably damaging	Het
Adamts17	A	G	7: 66,499,464 (GRCm39)	I4V	possibly damaging	Het
Adgrg3	T	C	8: 95,761,675 (GRCm39)	V146A	probably damaging	Het
Ankrd52	T	A	10: 128,225,170 (GRCm39)	L877Q	probably damaging	Het
Aox3	A	T	1: 58,189,481 (GRCm39)	D394V	possibly damaging	Het
Arhgap45	G	A	10: 79,863,706 (GRCm39)	A819T	probably damaging	Het
Arhgef4	A	G	1: 34,761,983 (GRCm39)	E413G	unknown	Het
Arhgef5	T	C	6: 43,252,119 (GRCm39)	S957P	probably benign	Het
Arsk	G	T	13: 76,239,861 (GRCm39)	T114K	probably damaging	Het
Bpifb2	T	C	2: 153,733,876 (GRCm39)	V406A	probably damaging	Het
Cbr3	C	A	16: 93,480,393 (GRCm39)	Q61K	probably benign	Het
Ccdc73	C	T	2: 104,821,557 (GRCm39)	S502L	probably benign	Het
Cdhr3	A	T	12: 33,098,931 (GRCm39)		probably null	Het
Cep170b	T	A	12: 112,705,719 (GRCm39)	M1159K	possibly damaging	Het
Cep295	A	T	9: 15,244,836 (GRCm39)	S1159T		Het
Cit	C	T	5: 116,107,131 (GRCm39)	R1088W	probably damaging	Het
Col16a1	A	T	4: 129,947,270 (GRCm39)	H205L	unknown	Het
Cpt1c	T	G	7: 44,609,077 (GRCm39)	H748P	probably damaging	Het
Cstdc4	T	G	16: 36,006,772 (GRCm39)	Y35*	probably null	Het
Dcaf8	A	T	1: 172,013,886 (GRCm39)	D359V	probably benign	Het
Dcstamp	A	G	15: 39,618,422 (GRCm39)	Y277C	probably damaging	Het
Dnah10	A	G	5: 124,832,790 (GRCm39)	K898R	probably benign	Het
Dnah6	T	A	6: 73,037,208 (GRCm39)	T3345S	probably benign	Het
Dpp6	A	T	5: 27,803,815 (GRCm39)	N254Y	probably damaging	Het
F2	A	T	2: 91,460,618 (GRCm39)		probably null	Het
Fam216b	G	C	14: 78,322,504 (GRCm39)	H67D	possibly damaging	Het
Fbxl17	A	C	17: 63,794,967 (GRCm39)		probably null	Het
Gas2	T	A	7: 51,547,026 (GRCm39)	M59K	probably damaging	Het
Glud1	G	A	14: 34,065,664 (GRCm39)	G554D	probably damaging	Het
Gys2	C	T	6: 142,402,138 (GRCm39)	G234R	probably damaging	Het
Ifngr1	A	G	10: 19,485,241 (GRCm39)	I413M	probably benign	Het
Inpp5a	C	T	7: 139,118,153 (GRCm39)	R236C	probably damaging	Het
Kcnip3	A	G	2: 127,323,934 (GRCm39)	S32P	probably benign	Het
Lingo3	T	A	10: 80,670,464 (GRCm39)	T489S	possibly damaging	Het
Lrpprc	A	G	17: 85,079,575 (GRCm39)	L227P	probably damaging	Het
Morn1	A	G	4: 155,213,160 (GRCm39)	Q356R	probably benign	Het
Naxd	A	C	8: 11,561,987 (GRCm39)	K275Q	probably benign	Het
Nbeal1	G	C	1: 60,276,310 (GRCm39)	V684L	probably benign	Het
Nck1	A	T	9: 100,379,790 (GRCm39)	W154R	probably damaging	Het
Or10d5	G	A	9: 39,861,708 (GRCm39)	R120C	probably benign	Het
Or5aq6	C	T	2: 86,923,220 (GRCm39)	V174M	possibly damaging	Het
Or7e175	T	C	9: 20,048,571 (GRCm39)	V53A	possibly damaging	Het
Pdxk	C	T	10: 78,289,338 (GRCm39)	V38M	probably damaging	Het
Peg10	GC	GCTCC	6: 4,756,452 (GRCm39)		probably benign	Het
Pes1	T	C	11: 3,927,718 (GRCm39)	S482P	probably benign	Het
Pglyrp1	T	A	7: 18,618,657 (GRCm39)	F3I	unknown	Het
Pira13	T	C	7: 3,824,260 (GRCm39)	K631R	unknown	Het
Plce1	T	A	19: 38,761,423 (GRCm39)	F2092I	possibly damaging	Het
Pms1	A	G	1: 53,246,505 (GRCm39)	S345P	probably benign	Het
Pom121l12	C	A	11: 14,550,011 (GRCm39)	P239H	probably damaging	Het
Prdm2	A	G	4: 142,859,018 (GRCm39)	I1424T	probably benign	Het
Prmt6	A	G	3: 110,158,140 (GRCm39)	Y50H	probably damaging	Het
Rbm39	T	C	2: 155,996,195 (GRCm39)	I397V	probably benign	Het
Rnf157	A	G	11: 116,238,307 (GRCm39)	V519A	possibly damaging	Het
Sec23a	T	C	12: 59,053,980 (GRCm39)	E6G	possibly damaging	Het
Shank1	T	C	7: 43,962,748 (GRCm39)		probably null	Het
Slfn3	A	G	11: 83,105,505 (GRCm39)	I378V	probably benign	Het
Smn1	T	A	13: 100,267,303 (GRCm39)		probably null	Het
Snd1	T	C	6: 28,874,975 (GRCm39)	F632S	possibly damaging	Het
Sun5	T	C	2: 153,698,131 (GRCm39)		probably null	Het
Tial1	T	C	7: 128,046,614 (GRCm39)	R209G	probably benign	Het
Trhde	T	C	10: 114,244,598 (GRCm39)	I963V	possibly damaging	Het
Tssc4	G	T	7: 142,623,932 (GRCm39)	R80L	possibly damaging	Het
Ttn	A	T	2: 76,642,852 (GRCm39)	N13261K	probably damaging	Het
Ugdh	A	T	5: 65,581,005 (GRCm39)		probably null	Het
Vmn1r218	A	T	13: 23,321,472 (GRCm39)	E273V	probably benign	Het
Vmn2r92	T	A	17: 18,386,988 (GRCm39)	F109Y	possibly damaging	Het
Zcchc7	A	G	4: 44,931,398 (GRCm39)	S196G	probably benign	Het
Zfp788	T	A	7: 41,298,335 (GRCm39)	C324S	probably damaging	Het
Zfp976	T	C	7: 42,262,959 (GRCm39)	T294A	probably benign	Het

Other mutations in Or1ad8

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01771:Or1ad8	APN	11	50,898,593 (GRCm39)	missense	probably benign	0.15
IGL02729:Or1ad8	APN	11	50,897,892 (GRCm39)	missense	probably damaging	1.00
R0367:Or1ad8	UTSW	11	50,897,904 (GRCm39)	missense	probably damaging	1.00
R1675:Or1ad8	UTSW	11	50,898,464 (GRCm39)	missense	probably benign	0.01
R1716:Or1ad8	UTSW	11	50,898,679 (GRCm39)	missense	probably damaging	1.00
R1943:Or1ad8	UTSW	11	50,898,502 (GRCm39)	missense	probably benign	0.42
R3027:Or1ad8	UTSW	11	50,897,879 (GRCm39)	missense	possibly damaging	0.77
R4569:Or1ad8	UTSW	11	50,898,381 (GRCm39)	missense	possibly damaging	0.94
R5190:Or1ad8	UTSW	11	50,898,381 (GRCm39)	missense	probably damaging	0.98
R5447:Or1ad8	UTSW	11	50,898,170 (GRCm39)	missense	possibly damaging	0.66
R5560:Or1ad8	UTSW	11	50,898,350 (GRCm39)	missense	possibly damaging	0.61
R6396:Or1ad8	UTSW	11	50,898,312 (GRCm39)	missense	possibly damaging	0.46
R6943:Or1ad8	UTSW	11	50,898,153 (GRCm39)	missense	probably damaging	1.00
R7199:Or1ad8	UTSW	11	50,898,223 (GRCm39)	nonsense	probably null
R7991:Or1ad8	UTSW	11	50,898,071 (GRCm39)	missense	possibly damaging	0.48
R8118:Or1ad8	UTSW	11	50,898,327 (GRCm39)	missense	probably damaging	1.00
R8496:Or1ad8	UTSW	11	50,897,877 (GRCm39)	missense	probably benign
R9006:Or1ad8	UTSW	11	50,897,975 (GRCm39)	missense	probably damaging	0.98
R9246:Or1ad8	UTSW	11	50,897,891 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CACAAACCTGCATGCTCTCTTG -3'
(R):5'- GGTTGACCATGGGTGTCACTAC -3'

Sequencing Primer
(F):5'- GCATACTCTCCTCATGGTTCGAC -3'
(R):5'- CACTACTGTGAAGATGACGGTG -3'

Posted On

2020-07-13