Mutagenetix > Incidental Mutation

Incidental Mutation 'R3722:Or10d3'

258974

Institutional Source

Beutler Lab

Gene Symbol

Or10d3

Ensembl Gene

ENSMUSG00000050853

Gene Name

olfactory receptor family 10 subfamily D member 3

Synonyms

GA_x6K02T2PVTD-33247839-33246901, MOR224-9, Olfr958

MMRRC Submission

040713-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.158) question?

Stock #

R3722 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

39461227-39462165 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 39461418 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Glycine at position 250 (C250G)

Ref Sequence

ENSEMBL: ENSMUSP00000149788 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000062545] [ENSMUST00000215505] [ENSMUST00000217227]

AlphaFold

Q8VEY3

Predicted Effect

probably damaging
Transcript: ENSMUST00000062545
AA Change: C250G

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000049930
Gene: ENSMUSG00000050853
AA Change: C250G

Domain	Start	End	E-Value	Type
Pfam:7tm_4	31	306	1.1e-49	PFAM
Pfam:7TM_GPCR_Srsx	36	236	1.5e-6	PFAM
Pfam:7tm_1	41	288	3.4e-21	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000215505
AA Change: C250G

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

Predicted Effect

probably damaging
Transcript: ENSMUST00000217227
AA Change: C250G

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

Meta Mutation Damage Score

0.5438

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 97.2%
20x: 94.9%

Validation Efficiency

98% (61/62)

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: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgb	A	T	10: 10,216,254 (GRCm39)	S1485T	probably benign	Het
Akap9	A	G	5: 4,120,351 (GRCm39)	Y3589C	probably damaging	Het
Alkbh8	T	C	9: 3,385,153 (GRCm39)	Y482H	probably damaging	Het
Appl1	G	A	14: 26,649,801 (GRCm39)	T575M	probably damaging	Het
Arhgap21	T	C	2: 20,855,102 (GRCm39)	E1420G	probably damaging	Het
Asic3	A	T	5: 24,621,997 (GRCm39)	Y419F	probably benign	Het
Atg7	A	G	6: 114,672,624 (GRCm39)	Y279C	probably damaging	Het
Braf	G	A	6: 39,600,610 (GRCm39)	P616L	probably damaging	Het
Btnl2	T	C	17: 34,577,109 (GRCm39)	M88T	possibly damaging	Het
C1rb	T	A	6: 124,557,620 (GRCm39)	Y586N	probably damaging	Het
Cacna1s	T	C	1: 135,996,780 (GRCm39)	F127S	possibly damaging	Het
Cd47	A	G	16: 49,688,205 (GRCm39)	I42V	probably benign	Het
Cox8b	T	A	7: 140,478,918 (GRCm39)	K66*	probably null	Het
Diras2	T	A	13: 52,662,059 (GRCm39)	I83F	probably damaging	Het
Dlg2	T	A	7: 91,361,008 (GRCm39)		probably null	Het
Dnah8	G	A	17: 31,073,872 (GRCm39)	R4514H	probably damaging	Het
Dnai1	G	A	4: 41,602,615 (GRCm39)	R113H	probably damaging	Het
Dolpp1	T	C	2: 30,287,500 (GRCm39)	L204P	probably damaging	Het
Fam170a	C	T	18: 50,415,271 (GRCm39)	P306S	probably benign	Het
Fbxl12	A	T	9: 20,550,268 (GRCm39)		probably null	Het
Fndc3a	T	A	14: 72,777,648 (GRCm39)	I1186F	probably benign	Het
Gm12886	T	A	4: 121,274,667 (GRCm39)	D71V	probably damaging	Het
H3c8	T	C	13: 23,719,722 (GRCm39)	V36A	possibly damaging	Het
Ica1	A	G	6: 8,659,021 (GRCm39)		probably benign	Het
Ighv8-11	A	G	12: 115,530,771 (GRCm39)	I119T	possibly damaging	Het
Ism1	A	T	2: 139,573,931 (GRCm39)	R94*	probably null	Het
Kbtbd11	T	A	8: 15,079,118 (GRCm39)	C572*	probably null	Het
Kcnk15	T	C	2: 163,700,214 (GRCm39)	L132P	probably damaging	Het
Lrmda	T	A	14: 22,077,399 (GRCm39)		probably benign	Het
Mei1	A	G	15: 81,987,405 (GRCm39)	H399R	possibly damaging	Het
Mrtfb	C	T	16: 13,203,557 (GRCm39)	A201V	probably damaging	Het
Ncstn	G	A	1: 171,895,462 (GRCm39)	T562M	possibly damaging	Het
Nudt4	A	T	10: 95,385,367 (GRCm39)		probably null	Het
Omp	T	C	7: 97,794,420 (GRCm39)	N69S	probably benign	Het
Or4a75	A	T	2: 89,448,503 (GRCm39)	I11N	possibly damaging	Het
Pak1	C	T	7: 97,503,704 (GRCm39)	P13L	probably damaging	Het
Pde4d	T	A	13: 110,087,866 (GRCm39)	C744*	probably null	Het
Pelp1	T	C	11: 70,289,026 (GRCm39)	Y240C	possibly damaging	Het
Pou2f1	G	C	1: 165,722,538 (GRCm39)	P349R	probably damaging	Het
Ptprk	A	G	10: 28,259,619 (GRCm39)	D353G	probably damaging	Het
Ptprs	A	G	17: 56,724,485 (GRCm39)	F1152S	probably damaging	Het
Rnf135	G	T	11: 80,087,743 (GRCm39)	A231S	probably benign	Het
Rpn1	G	A	6: 88,067,282 (GRCm39)		probably null	Het
Rreb1	T	A	13: 38,131,074 (GRCm39)	D1409E	probably benign	Het
Sipa1l2	G	A	8: 126,200,323 (GRCm39)	H668Y	probably damaging	Het
Slc35a5	A	T	16: 44,967,685 (GRCm39)	I138N	probably damaging	Het
Slc35d1	T	C	4: 103,065,321 (GRCm39)	K187E	possibly damaging	Het
Slc44a2	A	T	9: 21,254,273 (GRCm39)	I212F	possibly damaging	Het
Slc7a1	G	A	5: 148,272,343 (GRCm39)	R445*	probably null	Het
Snapc4	A	G	2: 26,255,440 (GRCm39)	L1028P	probably benign	Het
Snrnp40	C	T	4: 130,262,068 (GRCm39)	T152I	possibly damaging	Het
Spata31f1a	T	C	4: 42,851,472 (GRCm39)	E228G	probably benign	Het
Spink4	T	A	4: 40,929,136 (GRCm39)	C54S	probably damaging	Het
Tex2	C	T	11: 106,437,566 (GRCm39)	W203*	probably null	Het
Tmcc1	T	C	6: 116,110,783 (GRCm39)	E170G	possibly damaging	Het
Ttc23l	CT	CTTGGATT	15: 10,537,648 (GRCm39)		probably benign	Het
Ttc23l	G	A	15: 10,537,652 (GRCm39)	S206L	probably benign	Het
Ttll6	A	G	11: 96,024,747 (GRCm39)	N46D	probably benign	Het
Txk	T	A	5: 72,865,078 (GRCm39)	K266*	probably null	Het
Uggt2	T	C	14: 119,278,930 (GRCm39)	E859G	probably damaging	Het
Uros	A	T	7: 133,304,120 (GRCm39)	M1K	probably null	Het
Vps13b	T	A	15: 35,671,528 (GRCm39)	I1677N	probably damaging	Het
Zbtb5	A	G	4: 44,994,863 (GRCm39)		probably null	Het
Zfp760	A	G	17: 21,941,143 (GRCm39)	Y106C	probably damaging	Het

Other mutations in Or10d3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R0446:Or10d3	UTSW	9	39,461,747 (GRCm39)	missense	probably damaging	0.96
R0539:Or10d3	UTSW	9	39,461,593 (GRCm39)	missense	probably damaging	0.99
R1512:Or10d3	UTSW	9	39,461,390 (GRCm39)	missense	probably damaging	1.00
R1521:Or10d3	UTSW	9	39,462,080 (GRCm39)	missense	possibly damaging	0.65
R1652:Or10d3	UTSW	9	39,461,591 (GRCm39)	missense	probably benign	0.03
R2099:Or10d3	UTSW	9	39,461,963 (GRCm39)	missense	probably benign	0.17
R2252:Or10d3	UTSW	9	39,461,273 (GRCm39)	missense	probably damaging	0.99
R2911:Or10d3	UTSW	9	39,462,117 (GRCm39)	missense	possibly damaging	0.76
R5745:Or10d3	UTSW	9	39,461,987 (GRCm39)	missense	probably damaging	1.00
R6460:Or10d3	UTSW	9	39,462,088 (GRCm39)	frame shift	probably null
R6504:Or10d3	UTSW	9	39,461,574 (GRCm39)	missense	probably damaging	1.00
R7063:Or10d3	UTSW	9	39,461,411 (GRCm39)	missense	possibly damaging	0.87
R7162:Or10d3	UTSW	9	39,461,525 (GRCm39)	missense	probably damaging	1.00
R8674:Or10d3	UTSW	9	39,461,675 (GRCm39)	missense	probably damaging	1.00
R8748:Or10d3	UTSW	9	39,461,712 (GRCm39)	nonsense	probably null
R8748:Or10d3	UTSW	9	39,461,711 (GRCm39)	missense	possibly damaging	0.95
R8822:Or10d3	UTSW	9	39,461,812 (GRCm39)	missense	probably benign	0.11
R9529:Or10d3	UTSW	9	39,461,723 (GRCm39)	missense	probably benign	0.28
R9631:Or10d3	UTSW	9	39,461,508 (GRCm39)	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- TGATGATGGATTCTTCCTAACCC -3'
(R):5'- CCATTGGCGTCTGCTGATAC -3'

Sequencing Primer
(F):5'- GGATTCTTCCTAACCCTCAGAAACTG -3'
(R):5'- TGCTGATACCTCCTTAGCACAGAG -3'

Posted On

2015-01-23