Mutagenetix > Incidental Mutation

Incidental Mutation 'R0026:Or12d17'

64507

Institutional Source

Beutler Lab

Gene Symbol

Or12d17

Ensembl Gene

ENSMUSG00000029184

Gene Name

olfactory receptor family 12 subfamily D member 17

Synonyms

GA_x6K02T2PSCP-1914078-1915022, Olfr109, MOR250-1

MMRRC Submission

038321-MU

Accession Numbers

Essential gene?

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

Stock #

R0026 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

37777099-37778043 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 37777694 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Aspartic acid at position 199 (V199D)

Ref Sequence

ENSEMBL: ENSMUSP00000150044 (fasta)

Gene Model

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

AlphaFold

Q8VG96

Predicted Effect

probably damaging
Transcript: ENSMUST00000031086
AA Change: V199D

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000031086
Gene: ENSMUSG00000029184
AA Change: V199D

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

probably damaging
Transcript: ENSMUST00000214668
AA Change: V199D

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)

Predicted Effect

probably damaging
Transcript: ENSMUST00000214938
AA Change: V199D

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)

Predicted Effect

probably damaging
Transcript: ENSMUST00000217602
AA Change: V199D

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 99.3%
3x: 98.9%
10x: 97.8%
20x: 96.3%

Validation Efficiency

93% (70/75)

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: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110002E22Rik	T	A	3: 137,772,566 (GRCm39)	I585N	possibly damaging	Het
A830005F24Rik	C	T	13: 48,667,848 (GRCm39)		probably benign	Het
Abca16	C	T	7: 120,077,146 (GRCm39)		probably benign	Het
Acot10	G	A	15: 20,666,322 (GRCm39)	L140F	probably benign	Het
Adam19	G	T	11: 46,027,086 (GRCm39)	C573F	probably damaging	Het
Aff3	A	G	1: 38,242,974 (GRCm39)	S948P	probably benign	Het
Anxa3	T	A	5: 96,986,260 (GRCm39)	Y300N	probably benign	Het
BC016579	T	C	16: 45,460,730 (GRCm39)	T113A	probably benign	Het
Bmpr1b	A	G	3: 141,576,494 (GRCm39)	L113P	probably benign	Het
Casq1	T	C	1: 172,046,967 (GRCm39)		probably benign	Het
Cdc16	T	A	8: 13,809,130 (GRCm39)		probably null	Het
Cep135	C	T	5: 76,754,581 (GRCm39)	R353*	probably null	Het
Cma1	A	T	14: 56,179,621 (GRCm39)	C188S	probably damaging	Het
Csf3r	A	G	4: 125,925,677 (GRCm39)	T151A	probably benign	Het
Cyp4b1	C	T	4: 115,504,718 (GRCm39)	G56D	possibly damaging	Het
Dbn1	T	C	13: 55,625,597 (GRCm39)	E275G	probably damaging	Het
Dlgap2	C	T	8: 14,777,363 (GRCm39)	Q203*	probably null	Het
Ephb3	A	G	16: 21,033,667 (GRCm39)	D251G	probably damaging	Het
Fancd2os	G	T	6: 113,574,652 (GRCm39)	T118N	probably damaging	Het
Gm10801	T	C	2: 98,494,254 (GRCm39)		probably benign	Het
Got1l1	C	T	8: 27,690,276 (GRCm39)	V132I	probably benign	Het
H2-M9	T	C	17: 36,952,419 (GRCm39)		probably benign	Het
Ibtk	A	G	9: 85,572,356 (GRCm39)	V1278A	probably benign	Het
Kctd3	T	C	1: 188,708,818 (GRCm39)	T519A	probably damaging	Het
Lgsn	T	A	1: 31,242,524 (GRCm39)	V202D	probably damaging	Het
Madd	A	G	2: 91,006,053 (GRCm39)	F381L	possibly damaging	Het
Map1s	G	A	8: 71,367,282 (GRCm39)	G729D	probably damaging	Het
Mlycd	A	G	8: 120,137,174 (GRCm39)	I465V	probably benign	Het
Mrgprb1	T	C	7: 48,096,952 (GRCm39)	R108G	possibly damaging	Het
Mrgprx2	T	A	7: 48,131,771 (GRCm39)	H106L	possibly damaging	Het
Ncor1	T	C	11: 62,329,255 (GRCm39)	Y6C	probably damaging	Het
Nfkb1	T	C	3: 135,297,334 (GRCm39)	D773G	probably damaging	Het
Nxnl1	A	G	8: 72,019,217 (GRCm39)	S3P	probably damaging	Het
Or8b54	G	A	9: 38,686,892 (GRCm39)	V114I	probably benign	Het
Otud7a	T	C	7: 63,385,549 (GRCm39)	F338L	probably benign	Het
Pdcl3	T	A	1: 39,030,361 (GRCm39)	L14Q	probably damaging	Het
Pla2g7	T	A	17: 43,905,821 (GRCm39)		probably benign	Het
Prpf31	T	A	7: 3,642,667 (GRCm39)	N413K	probably benign	Het
Rapgef5	T	C	12: 117,652,896 (GRCm39)	S307P	probably benign	Het
Relt	C	A	7: 100,499,428 (GRCm39)	E164*	probably null	Het
Rnf185	T	C	11: 3,376,617 (GRCm39)	D86G	probably damaging	Het
Rrm2b	T	C	15: 37,953,985 (GRCm39)	E21G	probably benign	Het
Scn5a	A	G	9: 119,351,632 (GRCm39)	I783T	probably damaging	Het
Senp1	T	C	15: 97,974,549 (GRCm39)	R88G	probably damaging	Het
Skint5	A	T	4: 113,403,665 (GRCm39)		probably benign	Het
Slc35b1	T	C	11: 95,281,468 (GRCm39)	S294P	probably benign	Het
Slc5a2	T	A	7: 127,869,225 (GRCm39)	I335N	probably damaging	Het
Spata31e2	T	A	1: 26,722,450 (GRCm39)	D910V	probably benign	Het
Sstr1	T	A	12: 58,259,644 (GRCm39)	M89K	probably damaging	Het
Szt2	A	T	4: 118,241,969 (GRCm39)	S1612R	possibly damaging	Het
Taf1c	T	C	8: 120,330,975 (GRCm39)		probably null	Het
Taf1d	T	A	9: 15,219,944 (GRCm39)	S64R	probably damaging	Het
Tmem125	A	G	4: 118,399,270 (GRCm39)	S54P	possibly damaging	Het
Ttf1	T	A	2: 28,961,361 (GRCm39)	I583N	possibly damaging	Het
Uchl4	A	T	9: 64,142,653 (GRCm39)		probably null	Het
Unc5b	A	T	10: 60,610,371 (GRCm39)	I482N	possibly damaging	Het
Unc80	C	A	1: 66,560,743 (GRCm39)	Q824K	probably benign	Het
Utrn	T	C	10: 12,601,940 (GRCm39)		probably benign	Het
Vmn2r61	T	G	7: 41,924,898 (GRCm39)	I484R	possibly damaging	Het
Vps13b	T	C	15: 35,923,447 (GRCm39)	I3774T	possibly damaging	Het
Yipf1	T	A	4: 107,202,357 (GRCm39)	L240*	probably null	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
IGL02039:Or12d17	APN	17	37,777,340 (GRCm39)	missense	possibly damaging	0.49
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
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

Predicted Primers

PCR Primer
(F):5'- ACGGCCTGGTTCACAAGCTTCTTC -3'
(R):5'- ACTGGGGTGACTGCACTGTAGATG -3'

Sequencing Primer
(F):5'- GGTTCACAAGCTTCTTCTATGC -3'
(R):5'- ACTGCACTGTAGATGATGGC -3'

Posted On

2013-08-06