Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02039:Or12d17'

184627

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Or12d17

Ensembl Gene

ENSMUSG00000029184

Gene Name

olfactory receptor family 12 subfamily D member 17

Synonyms

GA_x6K02T2PSCP-1914078-1915022, Olfr109, MOR250-1

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.082) question?

Stock #

IGL02039

Quality Score

Status

Chromosome

Chromosomal Location

37777099-37778043 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 37777340 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Asparagine at position 81 (I81N)

Ref Sequence

ENSEMBL: ENSMUSP00000150044 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000031086] [ENSMUST00000214668] [ENSMUST00000214938] [ENSMUST00000217602]

AlphaFold

Q8VG96

Predicted Effect

possibly damaging
Transcript: ENSMUST00000031086
AA Change: I81N

PolyPhen 2 Score 0.488 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000031086
Gene: ENSMUSG00000029184
AA Change: I81N

Domain	Start	End	E-Value	Type
Pfam:7tm_4	29	309	3.4e-54	PFAM
Pfam:7tm_1	39	291	6.3e-23	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000214668
AA Change: I81N

PolyPhen 2 Score 0.488 (Sensitivity: 0.88; Specificity: 0.90)

Predicted Effect

possibly damaging
Transcript: ENSMUST00000214938
AA Change: I81N

PolyPhen 2 Score 0.488 (Sensitivity: 0.88; Specificity: 0.90)

Predicted Effect

possibly damaging
Transcript: ENSMUST00000217602
AA Change: I81N

PolyPhen 2 Score 0.488 (Sensitivity: 0.88; Specificity: 0.90)

Coding Region Coverage

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: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca13	T	A	11: 9,247,193 (GRCm39)	Y2313*	probably null	Het
Arhgef12	A	G	9: 42,883,563 (GRCm39)	I1323T	probably benign	Het
C87436	A	G	6: 86,430,677 (GRCm39)	M366V	probably benign	Het
Cep290	T	C	10: 100,350,464 (GRCm39)		probably null	Het
Cpsf3	T	C	12: 21,351,457 (GRCm39)	M326T	probably damaging	Het
Cpxm2	A	G	7: 131,649,482 (GRCm39)	V64A	probably damaging	Het
Csnka2ip	G	A	16: 64,298,957 (GRCm39)	S25F	probably damaging	Het
Cyfip1	T	C	7: 55,524,769 (GRCm39)	F168L	possibly damaging	Het
Dhx8	T	C	11: 101,654,853 (GRCm39)		probably null	Het
Dnah2	T	A	11: 69,390,038 (GRCm39)	I736F	probably damaging	Het
Erf	T	C	7: 24,943,969 (GRCm39)	E454G	possibly damaging	Het
Flnc	T	C	6: 29,450,718 (GRCm39)	V1482A	probably benign	Het
Fmn1	T	C	2: 113,195,425 (GRCm39)	L375P	unknown	Het
Foxm1	T	C	6: 128,346,323 (GRCm39)	Y85H	probably damaging	Het
Frem3	A	G	8: 81,339,600 (GRCm39)	E631G	probably damaging	Het
Fsip1	T	C	2: 118,070,895 (GRCm39)	D265G	probably damaging	Het
Gprc5c	C	T	11: 114,755,312 (GRCm39)	Q330*	probably null	Het
Grin1	C	T	2: 25,195,354 (GRCm39)	V246M	probably damaging	Het
Ifitm3	C	A	7: 140,590,563 (GRCm39)		probably benign	Het
Igdcc3	G	A	9: 65,091,162 (GRCm39)	V648I	probably benign	Het
Ighv5-2	A	G	12: 113,542,214 (GRCm39)	I87T	probably benign	Het
Imp4	G	A	1: 34,482,849 (GRCm39)		probably null	Het
Ino80	T	C	2: 119,210,554 (GRCm39)	N1327D	probably damaging	Het
Kif5a	T	C	10: 127,069,736 (GRCm39)	I830V	possibly damaging	Het
Muc5b	A	G	7: 141,424,901 (GRCm39)	Y4696C	possibly damaging	Het
Nrl	T	C	14: 55,759,567 (GRCm39)	E120G	probably benign	Het
Nsmaf	T	A	4: 6,424,995 (GRCm39)		probably benign	Het
Nup35	T	C	2: 80,473,119 (GRCm39)	M64T	probably benign	Het
Nxpe2	T	A	9: 48,230,959 (GRCm39)	N470I	probably benign	Het
Oga	A	T	19: 45,762,142 (GRCm39)	V237E	probably damaging	Het
Or9i1	C	T	19: 13,840,083 (GRCm39)	Q309*	probably null	Het
Os9	G	A	10: 126,932,160 (GRCm39)	P604S	possibly damaging	Het
Pitpnm1	A	G	19: 4,155,032 (GRCm39)	T287A	probably benign	Het
Pkd2l2	G	T	18: 34,568,421 (GRCm39)		probably null	Het
Pola2	A	T	19: 5,998,497 (GRCm39)	I355N	probably damaging	Het
Pp2d1	T	A	17: 53,823,022 (GRCm39)	R15*	probably null	Het
Prpf40a	T	C	2: 53,034,815 (GRCm39)	D749G	probably damaging	Het
Rhoh	T	C	5: 66,049,981 (GRCm39)	S84P	probably damaging	Het
Slc12a7	T	C	13: 73,957,213 (GRCm39)		probably null	Het
Slc37a2	A	G	9: 37,144,980 (GRCm39)	I454T	probably damaging	Het
Smarca2	A	G	19: 26,693,537 (GRCm39)	D28G	probably damaging	Het
Socs4	T	C	14: 47,527,650 (GRCm39)	I195T	probably benign	Het
Svep1	A	G	4: 58,123,980 (GRCm39)		probably null	Het
Thbd	T	C	2: 148,248,462 (GRCm39)	T469A	probably benign	Het
Thoc5	T	C	11: 4,872,027 (GRCm39)		probably null	Het
Vmn1r173	G	T	7: 23,402,321 (GRCm39)	M185I	probably benign	Het
Vmn1r59	T	C	7: 5,457,380 (GRCm39)	S127G	probably benign	Het
Vmn2r6	T	C	3: 64,463,610 (GRCm39)	E408G	probably damaging	Het
Yars1	A	T	4: 129,109,052 (GRCm39)	I428F	probably damaging	Het
Zglp1	T	C	9: 20,978,335 (GRCm39)	E14G	possibly damaging	Het

Other mutations in Or12d17

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01813:Or12d17	APN	17	37,777,649 (GRCm39)	missense	probably damaging	1.00
IGL02391:Or12d17	APN	17	37,777,477 (GRCm39)	missense	probably damaging	1.00
IGL02730:Or12d17	APN	17	37,777,750 (GRCm39)	missense	probably damaging	1.00
IGL02751:Or12d17	APN	17	37,777,306 (GRCm39)	missense	probably damaging	0.98
IGL02891:Or12d17	APN	17	37,777,835 (GRCm39)	missense	probably damaging	1.00
IGL03023:Or12d17	APN	17	37,777,885 (GRCm39)	missense	probably benign
IGL03343:Or12d17	APN	17	37,777,300 (GRCm39)	missense	probably damaging	1.00
R0026:Or12d17	UTSW	17	37,777,694 (GRCm39)	missense	probably damaging	0.99
R0579:Or12d17	UTSW	17	37,777,238 (GRCm39)	missense	probably benign	0.01
R1751:Or12d17	UTSW	17	37,777,792 (GRCm39)	missense	probably benign	0.00
R1848:Or12d17	UTSW	17	37,777,938 (GRCm39)	missense	probably damaging	0.99
R2392:Or12d17	UTSW	17	37,777,310 (GRCm39)	missense	probably damaging	1.00
R4249:Or12d17	UTSW	17	37,777,715 (GRCm39)	missense	probably damaging	0.98
R4464:Or12d17	UTSW	17	37,777,742 (GRCm39)	missense	probably damaging	1.00
R4857:Or12d17	UTSW	17	37,777,714 (GRCm39)	missense	possibly damaging	0.80
R4947:Or12d17	UTSW	17	37,777,634 (GRCm39)	missense	probably damaging	1.00
R5107:Or12d17	UTSW	17	37,777,144 (GRCm39)	missense	probably damaging	0.97
R5526:Or12d17	UTSW	17	37,778,003 (GRCm39)	missense	unknown
R6147:Or12d17	UTSW	17	37,777,430 (GRCm39)	missense	probably benign	0.00
R6416:Or12d17	UTSW	17	37,777,971 (GRCm39)	nonsense	probably null
R7450:Or12d17	UTSW	17	37,777,507 (GRCm39)	missense	probably benign	0.00
R7487:Or12d17	UTSW	17	37,777,457 (GRCm39)	missense	probably damaging	0.96
R7822:Or12d17	UTSW	17	37,777,994 (GRCm39)	missense	probably benign	0.00
R8041:Or12d17	UTSW	17	37,777,540 (GRCm39)	missense	probably benign
R8051:Or12d17	UTSW	17	37,777,213 (GRCm39)	missense	probably damaging	1.00
R9013:Or12d17	UTSW	17	37,777,441 (GRCm39)	missense	probably benign	0.13
X0063:Or12d17	UTSW	17	37,777,415 (GRCm39)	missense	probably damaging	1.00
X0065:Or12d17	UTSW	17	37,777,209 (GRCm39)	missense	probably damaging	1.00
Z1176:Or12d17	UTSW	17	37,777,552 (GRCm39)	missense	possibly damaging	0.93

Posted On

2014-05-07