Mutagenetix > Incidental Mutation

Incidental Mutation 'R5441:Or12d13'

427206

Institutional Source

Beutler Lab

Gene Symbol

Or12d13

Ensembl Gene

ENSMUSG00000049618

Gene Name

olfactory receptor family 12 subfamily D member 13

Synonyms

MOR250-3, Olfr103, MOR250-8_p, GA_x6K02T2PSCP-1798423-1797482

MMRRC Submission

043006-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.066) question?

Stock #

R5441 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

37647180-37648121 bp(-) (GRCm39)

Type of Mutation

splice site (21 bp from exon)

DNA Base Change (assembly)

T to C at 37647159 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000094934 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000058826] [ENSMUST00000173472] [ENSMUST00000173472]

AlphaFold

Q920Y8

Predicted Effect

probably null
Transcript: ENSMUST00000058826

SMART Domains

Protein: ENSMUSP00000094934
Gene: ENSMUSG00000049618

Domain	Start	End	E-Value	Type
Pfam:7tm_4	29	307	3.5e-52	PFAM
Pfam:7tm_1	39	289	3.8e-21	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000173472

SMART Domains

Protein: ENSMUSP00000134539
Gene: ENSMUSG00000049618

Domain	Start	End	E-Value	Type
Pfam:7tm_1	39	289	2.8e-31	PFAM
Pfam:7tm_4	137	282	1.1e-38	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000173472

SMART Domains

Protein: ENSMUSP00000134539
Gene: ENSMUSG00000049618

Domain	Start	End	E-Value	Type
Pfam:7tm_1	39	289	2.8e-31	PFAM
Pfam:7tm_4	137	282	1.1e-38	PFAM

Meta Mutation Damage Score

0.9755

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.1%
20x: 95.1%

Validation Efficiency

98% (56/57)

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: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca12	A	G	1: 71,334,215 (GRCm39)	Y1096H	probably damaging	Het
Aspa	A	T	11: 73,196,420 (GRCm39)	F261I	probably damaging	Het
Atm	C	A	9: 53,427,767 (GRCm39)	G448*	probably null	Het
Atmin	T	A	8: 117,684,696 (GRCm39)	D785E	probably damaging	Het
Car1	G	C	3: 14,841,364 (GRCm39)	R90G	probably damaging	Het
Cdh11	T	C	8: 103,374,178 (GRCm39)	D520G	probably benign	Het
Cers5	T	A	15: 99,649,119 (GRCm39)	K50*	probably null	Het
Chad	A	T	11: 94,459,118 (GRCm39)	D340V	probably benign	Het
Cspg5	T	C	9: 110,075,711 (GRCm39)	I68T	probably benign	Het
Fcgbpl1	C	T	7: 27,856,339 (GRCm39)	T2042M	probably damaging	Het
Fcrla	T	A	1: 170,752,991 (GRCm39)		probably benign	Het
Fer1l4	T	A	2: 155,865,177 (GRCm39)	D1608V	probably benign	Het
Fzd5	T	A	1: 64,774,576 (GRCm39)	Q395L	probably benign	Het
Gm7664	T	A	13: 62,676,464 (GRCm39)		probably benign	Het
Hk3	T	C	13: 55,162,869 (GRCm39)	E2G	probably damaging	Het
Hmcn2	G	A	2: 31,296,428 (GRCm39)	E2677K	possibly damaging	Het
Hydin	T	C	8: 111,291,741 (GRCm39)	L3411P	possibly damaging	Het
Ltbr	G	A	6: 125,289,757 (GRCm39)	R146W	probably damaging	Het
Lysmd2	C	T	9: 75,533,254 (GRCm39)	H70Y	possibly damaging	Het
Msi2	A	G	11: 88,370,818 (GRCm39)		probably benign	Het
Msi2	G	A	11: 88,608,921 (GRCm39)		probably benign	Het
Napsa	T	A	7: 44,230,817 (GRCm39)		probably benign	Het
Nlrp4a	T	A	7: 26,153,578 (GRCm39)	L710M	probably damaging	Het
Or10g1	T	A	14: 52,647,414 (GRCm39)	K305M	probably benign	Het
Or5m13	T	A	2: 85,748,934 (GRCm39)	F222I	probably benign	Het
Or6ae1	T	C	7: 139,742,564 (GRCm39)	T100A	probably benign	Het
Or9a2	C	T	6: 41,748,782 (GRCm39)	M150I	probably benign	Het
Plbd2	T	A	5: 120,637,147 (GRCm39)	Y105F	probably benign	Het
Plppr5	A	T	3: 117,456,120 (GRCm39)	I214F	possibly damaging	Het
Pramel34	A	T	5: 93,784,456 (GRCm39)	M139K	possibly damaging	Het
Ptcd3	A	G	6: 71,858,505 (GRCm39)	V655A	possibly damaging	Het
Ptpn14	T	C	1: 189,530,767 (GRCm39)	L78P	probably damaging	Het
Ralgapa1	A	C	12: 55,766,408 (GRCm39)	D1295E	probably damaging	Het
Rnf213	G	A	11: 119,299,846 (GRCm39)	D192N	probably damaging	Het
Ropn1	A	G	16: 34,487,167 (GRCm39)	I34M	probably damaging	Het
Rpe65	G	T	3: 159,310,038 (GRCm39)	G104C	probably damaging	Het
Scgb2b27	T	C	7: 33,712,582 (GRCm39)		probably benign	Het
Sh3bgr	T	C	16: 96,007,117 (GRCm39)	I29T	possibly damaging	Het
Smg1	T	C	7: 117,794,304 (GRCm39)		probably benign	Het
Stim2	T	A	5: 54,232,712 (GRCm39)	C68*	probably null	Het
Syne2	G	A	12: 76,035,917 (GRCm39)	V3736I	possibly damaging	Het
Tbx19	T	C	1: 164,981,249 (GRCm39)	N82D	probably damaging	Het
Tdp1	T	A	12: 99,876,544 (GRCm39)	V353D	probably damaging	Het
Tg	T	A	15: 66,568,369 (GRCm39)	I1352K	possibly damaging	Het
Thsd4	T	C	9: 59,887,066 (GRCm39)	T919A	probably damaging	Het
Tmprss11f	A	T	5: 86,676,062 (GRCm39)	M373K	probably damaging	Het
Tmprss15	T	A	16: 78,868,335 (GRCm39)		probably null	Het
Tpd52	A	T	3: 9,068,466 (GRCm39)	Y16*	probably null	Het
Ube2o	G	A	11: 116,435,268 (GRCm39)	R507C	probably damaging	Het
Unc93b1	T	C	19: 3,993,703 (GRCm39)	F382L	probably benign	Het
Vav2	A	T	2: 27,160,122 (GRCm39)		probably benign	Het
Vmn1r207	T	C	13: 22,910,686 (GRCm39)		noncoding transcript	Het
Zan	T	A	5: 137,435,013 (GRCm39)	I2127F	unknown	Het
Zfp748	C	A	13: 67,688,737 (GRCm39)	C841F	probably damaging	Het
Zic4	C	A	9: 91,266,253 (GRCm39)	P299Q	probably damaging	Het

Other mutations in Or12d13

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00333:Or12d13	APN	17	37,647,474 (GRCm39)	nonsense	probably null
IGL01953:Or12d13	APN	17	37,647,766 (GRCm39)	missense	probably damaging	1.00
IGL02556:Or12d13	APN	17	37,647,887 (GRCm39)	missense	probably benign	0.00
IGL02574:Or12d13	APN	17	37,647,415 (GRCm39)	missense	probably damaging	1.00
IGL02737:Or12d13	APN	17	37,647,664 (GRCm39)	missense	possibly damaging	0.94
IGL02995:Or12d13	APN	17	37,647,600 (GRCm39)	missense	probably damaging	1.00
R1078:Or12d13	UTSW	17	37,647,917 (GRCm39)	missense	probably damaging	0.98
R1466:Or12d13	UTSW	17	37,647,847 (GRCm39)	missense	probably benign	0.43
R1466:Or12d13	UTSW	17	37,647,847 (GRCm39)	missense	probably benign	0.43
R3024:Or12d13	UTSW	17	37,647,918 (GRCm39)	missense	probably damaging	1.00
R3858:Or12d13	UTSW	17	37,648,117 (GRCm39)	nonsense	probably null
R4979:Or12d13	UTSW	17	37,647,759 (GRCm39)	missense	probably benign	0.06
R5062:Or12d13	UTSW	17	37,647,822 (GRCm39)	missense	probably damaging	0.99
R5215:Or12d13	UTSW	17	37,647,704 (GRCm39)	missense	probably benign	0.00
R5453:Or12d13	UTSW	17	37,647,953 (GRCm39)	missense	possibly damaging	0.96
R5525:Or12d13	UTSW	17	37,647,517 (GRCm39)	missense	probably damaging	0.99
R5660:Or12d13	UTSW	17	37,647,535 (GRCm39)	missense	probably damaging	1.00
R5859:Or12d13	UTSW	17	37,647,260 (GRCm39)	missense	possibly damaging	0.61
R6211:Or12d13	UTSW	17	37,647,599 (GRCm39)	missense	possibly damaging	0.90
R6958:Or12d13	UTSW	17	37,647,308 (GRCm39)	missense	probably benign
R7060:Or12d13	UTSW	17	37,647,352 (GRCm39)	missense	probably benign	0.02
R7567:Or12d13	UTSW	17	37,648,062 (GRCm39)	missense	probably benign	0.00
R7784:Or12d13	UTSW	17	37,647,946 (GRCm39)	missense	probably damaging	0.99
R7784:Or12d13	UTSW	17	37,647,469 (GRCm39)	missense	probably benign	0.13
R7978:Or12d13	UTSW	17	37,647,392 (GRCm39)	missense	probably benign	0.00
R8284:Or12d13	UTSW	17	37,647,587 (GRCm39)	missense	probably benign	0.01
R8419:Or12d13	UTSW	17	37,647,466 (GRCm39)	missense	possibly damaging	0.75
R8957:Or12d13	UTSW	17	37,647,382 (GRCm39)	missense	probably damaging	1.00
R9761:Or12d13	UTSW	17	37,648,057 (GRCm39)	missense	possibly damaging	0.81
Z1088:Or12d13	UTSW	17	37,647,596 (GRCm39)	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- TGTGTCCTAAGTCCATGTTATCAAC -3'
(R):5'- CTCAGGCAGCTCTTTAGACCAG -3'

Sequencing Primer
(F):5'- TATGTCCAAAACAAATTCAGGGAC -3'
(R):5'- GCAGCTCTTTAGACCAGGACAG -3'

Posted On

2016-09-01