Mutagenetix > Incidental Mutation

Incidental Mutation 'R1943:Or1ad8'

216387

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

039961-MU

Accession Numbers

Essential gene?

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

Stock #

R1943 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

50897801-50898724 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 50898502 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Methionine at position 234 (I234M)

Ref Sequence

ENSEMBL: ENSMUSP00000151005 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000076514] [ENSMUST00000213415]

AlphaFold

Q8VGG9

Predicted Effect

probably benign
Transcript: ENSMUST00000076514
AA Change: I234M

PolyPhen 2 Score 0.419 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000075832
Gene: ENSMUSG00000060918
AA Change: I234M

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

Predicted Effect

probably benign
Transcript: ENSMUST00000213415
AA Change: I234M

PolyPhen 2 Score 0.419 (Sensitivity: 0.89; Specificity: 0.90)

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.8%
20x: 94.3%

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: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A2m	A	G	6: 121,645,506 (GRCm39)	N1017S	possibly damaging	Het
Abca8a	T	C	11: 109,960,689 (GRCm39)	I610V	probably benign	Het
Acp5	C	T	9: 22,040,900 (GRCm39)	V108M	probably damaging	Het
Adam23	T	C	1: 63,516,916 (GRCm39)		probably null	Het
Adam34	T	A	8: 44,103,864 (GRCm39)	T594S	possibly damaging	Het
Adam34	A	T	8: 44,104,852 (GRCm39)	N264K	probably damaging	Het
Arsa	G	A	15: 89,357,742 (GRCm39)	T407I	probably damaging	Het
Bicc1	A	G	10: 70,995,353 (GRCm39)	S32P	probably damaging	Het
Cacna1i	T	A	15: 80,279,245 (GRCm39)	D1995E	probably benign	Het
Cemip2	G	A	19: 21,825,404 (GRCm39)		probably null	Het
Chst15	A	T	7: 131,864,579 (GRCm39)		probably null	Het
Cntnap4	T	A	8: 113,542,128 (GRCm39)	F754I	probably benign	Het
Cpz	C	T	5: 35,669,772 (GRCm39)	E302K	probably damaging	Het
Daw1	A	T	1: 83,186,987 (GRCm39)	I371F	possibly damaging	Het
Dennd1b	C	A	1: 139,096,690 (GRCm39)		probably benign	Het
Dhtkd1	T	G	2: 5,937,293 (GRCm39)	Q73P	probably benign	Het
Dmgdh	T	C	13: 93,847,878 (GRCm39)	I525T	probably benign	Het
Dst	C	A	1: 34,267,450 (GRCm39)	T4964K	possibly damaging	Het
Ercc3	A	G	18: 32,379,663 (GRCm39)	Y290C	probably damaging	Het
Fh1	C	T	1: 175,437,344 (GRCm39)	V252I	probably benign	Het
Gm13199	C	T	2: 5,867,517 (GRCm39)		probably benign	Het
Il1rn	T	C	2: 24,238,611 (GRCm39)	S82P	possibly damaging	Het
Lama4	T	C	10: 38,973,134 (GRCm39)	V1567A	possibly damaging	Het
Lamtor4	A	G	5: 138,254,054 (GRCm39)		probably null	Het
Llgl1	A	G	11: 60,596,842 (GRCm39)	N148D	probably benign	Het
Lmo7	G	T	14: 102,139,738 (GRCm39)	G774V	probably damaging	Het
Luzp2	A	T	7: 54,914,050 (GRCm39)	K293M	possibly damaging	Het
Mknk1	T	C	4: 115,720,223 (GRCm39)	V83A	probably damaging	Het
Mug2	T	C	6: 122,056,598 (GRCm39)	V1181A	probably benign	Het
Myo16	G	A	8: 10,644,905 (GRCm39)	D1746N	possibly damaging	Het
Or2aj4	A	T	16: 19,385,187 (GRCm39)	W149R	probably benign	Het
Osbpl3	A	G	6: 50,297,054 (GRCm39)	I548T	probably benign	Het
Parp14	A	G	16: 35,656,499 (GRCm39)	Y1676H	probably damaging	Het
Phtf1	A	T	3: 103,901,198 (GRCm39)	K416*	probably null	Het
Pmp2	T	C	3: 10,247,570 (GRCm39)	T40A	probably benign	Het
Ptpra	T	C	2: 130,386,024 (GRCm39)	M541T	probably damaging	Het
Rapgef6	A	G	11: 54,548,089 (GRCm39)	I753V	possibly damaging	Het
Rdh14	T	C	12: 10,441,162 (GRCm39)	V108A	probably benign	Het
Rnf38	A	T	4: 44,138,748 (GRCm39)	H248Q	probably damaging	Het
Rsph6a	A	C	7: 18,808,001 (GRCm39)	Y388S	probably damaging	Het
Ryr2	T	C	13: 11,746,609 (GRCm39)	D1981G	probably benign	Het
Sf3a3	A	G	4: 124,609,694 (GRCm39)	K97E	possibly damaging	Het
Shisa9	A	G	16: 12,085,620 (GRCm39)	T394A	probably benign	Het
Slc43a2	T	A	11: 75,436,567 (GRCm39)		probably null	Het
Slc45a1	A	G	4: 150,728,734 (GRCm39)	F23S	probably benign	Het
Slc7a10	T	A	7: 34,899,723 (GRCm39)	V435E	probably benign	Het
Snx15	A	G	19: 6,178,096 (GRCm39)	Y28H	probably damaging	Het
Spef2	T	G	15: 9,663,280 (GRCm39)	K834Q	possibly damaging	Het
Tdpoz2	G	T	3: 93,559,230 (GRCm39)	Y247*	probably null	Het
Tedc2	G	A	17: 24,436,923 (GRCm39)	R271W	possibly damaging	Het
Tfr2	C	A	5: 137,577,183 (GRCm39)	H378Q	probably benign	Het
Tigit	T	A	16: 43,469,581 (GRCm39)	H170L	probably benign	Het
Tmem62	A	T	2: 120,817,107 (GRCm39)	Q91L	probably benign	Het
Tmtc1	G	T	6: 148,327,416 (GRCm39)	C32*	probably null	Het
Txndc12	G	A	4: 108,713,407 (GRCm39)	V90I	probably benign	Het
Vmn2r93	C	A	17: 18,546,063 (GRCm39)	T645K	probably benign	Het
Vmn2r96	C	T	17: 18,806,664 (GRCm39)	T345I	probably benign	Het
Vps13d	A	T	4: 144,882,427 (GRCm39)	D1055E	probably benign	Het
Xirp2	A	G	2: 67,342,959 (GRCm39)	I1733M	probably benign	Het
Zfp512b	T	C	2: 181,230,208 (GRCm39)	H516R	probably damaging	Het
Zfp606	T	C	7: 12,227,615 (GRCm39)	S521P	probably damaging	Het
Zfp715	A	T	7: 42,949,054 (GRCm39)	V302E	possibly damaging	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
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
R8178:Or1ad8	UTSW	11	50,898,437 (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'- GCAGTGCACCACTTCTTCTG -3'
(R):5'- CGGAGAATTATCTTCCTCAGGGC -3'

Sequencing Primer
(F):5'- GTGACCCCTACCCTATCCTGAAG -3'
(R):5'- AATGTCACGATTCCTCAGGCTGTAG -3'

Posted On

2014-08-01