Mutagenetix > Incidental Mutation

Incidental Mutation 'R7450:Or12d17'

577679

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

Accession Numbers

Essential gene?

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

Stock #

R7450 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

37777099-37778043 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 37777507 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Lysine at position 137 (Q137K)

Ref Sequence

ENSEMBL: ENSMUSP00000150326 (fasta)

Gene Model

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

AlphaFold

Q8VG96

Predicted Effect

probably benign
Transcript: ENSMUST00000031086
AA Change: Q137K

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)

SMART Domains

Protein: ENSMUSP00000031086
Gene: ENSMUSG00000029184
AA Change: Q137K

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 benign
Transcript: ENSMUST00000214668
AA Change: Q137K

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)

Predicted Effect

probably benign
Transcript: ENSMUST00000214938
AA Change: Q137K

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)

Predicted Effect

probably benign
Transcript: ENSMUST00000217602
AA Change: Q137K

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.2%

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: 72 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2900026A02Rik	T	A	5: 113,331,977 (GRCm39)	R746W	possibly damaging	Het
Abcc2	T	C	19: 43,810,478 (GRCm39)	L925P	probably damaging	Het
Abcc3	A	T	11: 94,252,521 (GRCm39)	H787Q	probably damaging	Het
Acly	A	T	11: 100,370,101 (GRCm39)	V987E	probably damaging	Het
Afg2a	T	C	3: 37,510,934 (GRCm39)	L697S	probably damaging	Het
Cacna1b	A	T	2: 24,525,147 (GRCm39)	Y1676*	probably null	Het
Ccdc168	A	G	1: 44,097,933 (GRCm39)	V1055A	probably benign	Het
Ccdc175	T	A	12: 72,202,447 (GRCm39)	I283F	possibly damaging	Het
Cfap46	A	T	7: 139,197,353 (GRCm39)	F2173I	unknown	Het
Cln6	G	A	9: 62,757,912 (GRCm39)	E224K	probably damaging	Het
Cyp1a1	T	A	9: 57,609,415 (GRCm39)	L372Q	probably damaging	Het
Dnah8	T	A	17: 31,006,165 (GRCm39)	I3694N	probably damaging	Het
Dnal1	T	C	12: 84,171,297 (GRCm39)	Y31H	probably benign	Het
Eid3	T	A	10: 82,702,737 (GRCm39)	M66K	probably benign	Het
Epo	T	A	5: 137,481,497 (GRCm39)	E143D	probably damaging	Het
Fbxo25	C	A	8: 13,981,235 (GRCm39)	N236K	probably benign	Het
Fsip2	A	G	2: 82,782,024 (GRCm39)	I266V	probably benign	Het
Galnt6	T	C	15: 100,595,696 (GRCm39)	Y444C	probably damaging	Het
Gna11	T	C	10: 81,368,356 (GRCm39)	Y160C		Het
Hectd4	A	T	5: 121,419,995 (GRCm39)	T647S	probably benign	Het
Hgd	T	C	16: 37,444,686 (GRCm39)	V316A	possibly damaging	Het
Idh3a	T	C	9: 54,503,367 (GRCm39)	V142A	probably damaging	Het
Il3ra	T	A	14: 14,351,090 (GRCm38)	I297N	probably benign	Het
Kcnj5	T	G	9: 32,233,491 (GRCm39)	I275L	possibly damaging	Het
Kdm7a	A	T	6: 39,120,185 (GRCm39)	L928Q	probably damaging	Het
Kmo	A	G	1: 175,466,666 (GRCm39)	I75V	probably benign	Het
Krtap1-3	C	A	11: 99,481,697 (GRCm39)	C150F	unknown	Het
Lingo3	C	A	10: 80,670,671 (GRCm39)	E420*	probably null	Het
Lrrc37a	A	G	11: 103,389,152 (GRCm39)	V2091A	probably benign	Het
N4bp2	T	A	5: 65,982,643 (GRCm39)	Y1632*	probably null	Het
Nlrp1a	C	A	11: 70,998,484 (GRCm39)	G905V	probably damaging	Het
Nlrp9c	T	A	7: 26,064,364 (GRCm39)	E988V	probably benign	Het
Nol8	T	G	13: 49,813,491 (GRCm39)	H179Q	probably benign	Het
Notch3	G	A	17: 32,360,365 (GRCm39)	P1522L	possibly damaging	Het
Nup210l	T	C	3: 90,022,495 (GRCm39)		probably null	Het
Oas1b	T	A	5: 120,959,321 (GRCm39)	Y234*	probably null	Het
Or10al7	T	C	17: 38,366,000 (GRCm39)	I152M	probably benign	Het
Or12e14	A	C	2: 87,676,803 (GRCm39)	K63Q	probably damaging	Het
Or13c9	T	A	4: 52,936,113 (GRCm39)	K57*	probably null	Het
Or6c1b	A	C	10: 129,273,298 (GRCm39)	M206L	probably benign	Het
Pag1	T	C	3: 9,764,599 (GRCm39)	T185A	probably damaging	Het
Palmd	A	T	3: 116,721,292 (GRCm39)	S100T	probably damaging	Het
Papln	C	A	12: 83,826,945 (GRCm39)	A690E	probably benign	Het
Pcdhga7	C	T	18: 37,849,079 (GRCm39)	T362M	probably benign	Het
Pmpcb	T	A	5: 21,951,983 (GRCm39)	V286E	possibly damaging	Het
Pon3	T	C	6: 5,236,940 (GRCm39)	I142M	possibly damaging	Het
Prdx6	A	G	1: 161,069,386 (GRCm39)	S194P	probably benign	Het
Rapgef2	T	C	3: 79,080,366 (GRCm39)	E112G	probably benign	Het
Rasgrp1	T	C	2: 117,118,424 (GRCm39)	I522V	probably damaging	Het
Rhox4d	G	A	X: 36,700,645 (GRCm39)	G191E	unknown	Het
Rictor	C	T	15: 6,801,635 (GRCm39)	S441L	probably benign	Het
Rps6kb1	T	A	11: 86,393,657 (GRCm39)	E491V	probably benign	Het
Sema3d	C	T	5: 12,634,901 (GRCm39)	Q656*	probably null	Het
Shisa6	A	T	11: 66,108,832 (GRCm39)	D348E	probably benign	Het
Slc16a7	G	T	10: 125,063,920 (GRCm39)	H472Q	probably benign	Het
Slc49a4	T	C	16: 35,589,344 (GRCm39)	I90V	possibly damaging	Het
Slc9a2	A	G	1: 40,720,995 (GRCm39)		probably benign	Het
Smad4	A	G	18: 73,810,924 (GRCm39)	V20A	probably damaging	Het
Sstr3	G	A	15: 78,424,043 (GRCm39)	R235W	probably damaging	Het
Svep1	T	A	4: 58,064,248 (GRCm39)	H3245L	possibly damaging	Het
Tra2a	G	A	6: 49,227,919 (GRCm39)	R70*	probably null	Het
Trav7-4	G	T	14: 53,698,924 (GRCm39)	V24L	probably benign	Het
Tsc2	C	A	17: 24,819,005 (GRCm39)	S1278I	probably damaging	Het
Ubtf	A	G	11: 102,197,475 (GRCm39)	S726P	unknown	Het
Vmn2r42	A	T	7: 8,187,220 (GRCm39)	Y851N	probably benign	Het
Wwp1	A	G	4: 19,640,016 (GRCm39)	Y509H	probably damaging	Het
Xirp2	A	C	2: 67,340,159 (GRCm39)	Q800P	possibly damaging	Het
Zc3h7b	T	C	15: 81,667,281 (GRCm39)	F609L	probably benign	Het
Zdhhc8	G	T	16: 18,043,035 (GRCm39)	H388Q	probably benign	Het
Zfp1004	A	G	2: 150,035,046 (GRCm39)	T456A	probably benign	Het
Zfp644	T	C	5: 106,786,392 (GRCm39)	K52E	probably benign	Het
Zfp82	T	G	7: 29,756,320 (GRCm39)	E254A	probably 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
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
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
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'- CCTAGGAAACCTTTCTTGCCTG -3'
(R):5'- TGGTTGAGAACTGTATTGCCAC -3'

Sequencing Primer
(F):5'- ATCGGTGACTCTTCCCAAGG -3'
(R):5'- CACAGGCCACTTCTAAGAGGG -3'

Posted On

2019-10-07