Mutagenetix > Incidental Mutation

Incidental Mutation 'R3874:Or12d12'

276758

Institutional Source

Beutler Lab

Gene Symbol

Or12d12

Ensembl Gene

ENSMUSG00000092077

Gene Name

olfactory receptor family 12 subfamily D member 12

Synonyms

Olfr101, MOR250-2, GA_x6K02T2PSCP-1761617-1760691

MMRRC Submission

040792-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.118) question?

Stock #

R3874 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

37610337-37611375 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 37610870 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Serine at position 148 (T148S)

Ref Sequence

ENSEMBL: ENSMUSP00000149851 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000058046] [ENSMUST00000214376] [ENSMUST00000215392]

AlphaFold

Q920Z0

Predicted Effect

probably benign
Transcript: ENSMUST00000058046
AA Change: T148S

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000061042
Gene: ENSMUSG00000092077
AA Change: T148S

Domain	Start	End	E-Value	Type
Pfam:7tm_4	29	306	3.3e-53	PFAM
Pfam:7tm_1	39	289	3e-20	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000214376
AA Change: T148S

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

Predicted Effect

probably benign
Transcript: ENSMUST00000215392
AA Change: T148S

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.2%
3x: 98.7%
10x: 97.5%
20x: 95.9%

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: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9130213A22Rik	C	A	11: 69,012,301 (GRCm39)	G26*	probably null	Het
Abca5	T	A	11: 110,201,059 (GRCm39)	Y447F	probably damaging	Het
Acox2	A	G	14: 8,248,061 (GRCm38)	I407T	probably benign	Het
Adam8	T	C	7: 139,567,520 (GRCm39)	N408D	probably damaging	Het
Adgre1	A	T	17: 57,708,925 (GRCm39)	T39S	probably benign	Het
Akap12	G	A	10: 4,307,590 (GRCm39)	V1467I	probably benign	Het
Arid1b	T	A	17: 5,386,790 (GRCm39)		probably null	Het
Atp2c2	A	G	8: 120,462,035 (GRCm39)	I303V	possibly damaging	Het
Bpifc	C	T	10: 85,827,118 (GRCm39)	V144I	probably benign	Het
Camk4	A	G	18: 33,291,907 (GRCm39)	E189G	possibly damaging	Het
Casz1	A	G	4: 149,024,046 (GRCm39)		probably benign	Het
Ccdc134	T	C	15: 82,015,643 (GRCm39)	V41A	possibly damaging	Het
Chrd	A	T	16: 20,557,660 (GRCm39)	T753S	probably damaging	Het
Cracd	A	G	5: 76,988,739 (GRCm39)	D30G	probably damaging	Het
Cyb561a3	T	C	19: 10,562,735 (GRCm39)	V125A	probably benign	Het
D630039A03Rik	T	A	4: 57,910,606 (GRCm39)	T69S	probably benign	Het
Dchs1	A	G	7: 105,410,842 (GRCm39)	F1687S	probably damaging	Het
Dlgap4	T	C	2: 156,591,267 (GRCm39)	S818P	probably benign	Het
Dnah2	A	G	11: 69,320,174 (GRCm39)	I3965T	probably damaging	Het
Dnai2	G	T	11: 114,623,781 (GRCm39)	G15W	probably damaging	Het
Dsg1c	A	G	18: 20,410,109 (GRCm39)	I526V	probably benign	Het
Far2	G	A	6: 148,052,089 (GRCm39)	E123K	probably benign	Het
Gli1	A	T	10: 127,166,088 (GRCm39)	V1055E	probably damaging	Het
Hand2	G	T	8: 57,775,011 (GRCm39)	A24S	probably benign	Het
Helb	T	C	10: 119,941,942 (GRCm39)	I249V	probably benign	Het
Hspa4l	G	A	3: 40,727,074 (GRCm39)	V492M	probably damaging	Het
Hspg2	T	C	4: 137,266,660 (GRCm39)	I1916T	probably damaging	Het
Igfals	G	A	17: 25,100,579 (GRCm39)	V557I	possibly damaging	Het
Itpa	T	G	2: 130,522,930 (GRCm39)	S176A	probably damaging	Het
Kcnu1	T	A	8: 26,375,345 (GRCm39)	L353H	probably damaging	Het
Klhl1	A	G	14: 96,755,615 (GRCm39)	F47L	probably benign	Het
Klhl13	T	C	X: 23,151,415 (GRCm39)	D21G	probably benign	Het
Krt26	T	C	11: 99,225,570 (GRCm39)	K304E	probably damaging	Het
Krt9	C	T	11: 100,081,675 (GRCm39)	V285I	probably damaging	Het
Mansc1	T	C	6: 134,587,146 (GRCm39)	R344G	possibly damaging	Het
Mier2	G	T	10: 79,377,631 (GRCm39)	P439T	possibly damaging	Het
Mppe1	T	A	18: 67,358,957 (GRCm39)		probably null	Het
Nedd4l	G	A	18: 65,300,606 (GRCm39)	A243T	probably benign	Het
Notch4	T	A	17: 34,797,043 (GRCm39)	C934*	probably null	Het
Nsmce3	C	T	7: 64,521,916 (GRCm39)	D251N	probably damaging	Het
Or10a49	C	T	7: 108,468,335 (GRCm39)	V9M	probably damaging	Het
Or3a10	A	G	11: 73,935,525 (GRCm39)	C192R	probably damaging	Het
Or4f6	T	C	2: 111,838,668 (GRCm39)	T288A	possibly damaging	Het
Or5l13	T	A	2: 87,779,874 (GRCm39)	R234S	probably damaging	Het
Or8g23	A	G	9: 38,971,470 (GRCm39)	I164T	probably benign	Het
Pdzd7	T	C	19: 45,034,067 (GRCm39)	T6A	probably benign	Het
Picalm	T	A	7: 89,838,427 (GRCm39)	F493Y	probably damaging	Het
Prl7d1	A	G	13: 27,900,651 (GRCm39)	M1T	probably null	Het
Prl8a1	T	C	13: 27,759,441 (GRCm39)	K199E	possibly damaging	Het
Rims1	C	T	1: 22,498,740 (GRCm39)	R764H	probably damaging	Het
Rnf17	G	T	14: 56,712,870 (GRCm39)	R779L	possibly damaging	Het
Rufy2	T	C	10: 62,833,916 (GRCm39)	L294P	probably damaging	Het
Sgsh	A	G	11: 119,241,773 (GRCm39)	L111P	probably damaging	Het
Slc22a30	G	T	19: 8,314,213 (GRCm39)	T491K	probably benign	Het
Slc35b3	T	C	13: 39,127,044 (GRCm39)	N20D	possibly damaging	Het
Slc5a4a	T	C	10: 76,017,489 (GRCm39)	F429L	probably benign	Het
Sulf1	T	C	1: 12,887,636 (GRCm39)	I270T	probably damaging	Het
Tmem51	T	C	4: 141,759,059 (GRCm39)	T230A	probably damaging	Het
Tnc	T	A	4: 63,926,947 (GRCm39)	I860F	probably damaging	Het
Trh	A	T	6: 92,220,679 (GRCm39)	V61E	possibly damaging	Het
Ttn	T	G	2: 76,584,443 (GRCm39)	T22222P	probably damaging	Het
Uroc1	A	T	6: 90,338,494 (GRCm39)	K652*	probably null	Het
Usp34	C	T	11: 23,439,033 (GRCm39)	P3532S	possibly damaging	Het
Vmn2r120	A	T	17: 57,831,954 (GRCm39)	F278L	probably benign	Het
Vmn2r7	A	G	3: 64,627,032 (GRCm39)	F86L	possibly damaging	Het
Vmn2r87	A	T	10: 130,315,856 (GRCm39)	I70K	possibly damaging	Het
Vps13a	C	T	19: 16,722,317 (GRCm39)	A332T	probably benign	Het
Zfp568	T	A	7: 29,722,821 (GRCm39)	C589S	probably damaging	Het

Other mutations in Or12d12

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01583:Or12d12	APN	17	37,610,629 (GRCm39)	missense	probably benign	0.00
IGL01584:Or12d12	APN	17	37,610,629 (GRCm39)	missense	probably benign	0.00
IGL01609:Or12d12	APN	17	37,610,629 (GRCm39)	missense	probably benign	0.00
IGL01739:Or12d12	APN	17	37,610,673 (GRCm39)	missense	probably benign	0.00
IGL03203:Or12d12	APN	17	37,611,317 (GRCm39)	splice site	probably benign
R1122:Or12d12	UTSW	17	37,611,019 (GRCm39)	missense	probably damaging	1.00
R1132:Or12d12	UTSW	17	37,610,423 (GRCm39)	missense	probably benign	0.19
R1237:Or12d12	UTSW	17	37,611,156 (GRCm39)	missense	probably benign	0.19
R3423:Or12d12	UTSW	17	37,610,761 (GRCm39)	missense	probably benign	0.00
R3872:Or12d12	UTSW	17	37,610,870 (GRCm39)	missense	probably benign	0.00
R3873:Or12d12	UTSW	17	37,610,870 (GRCm39)	missense	probably benign	0.00
R4871:Or12d12	UTSW	17	37,611,095 (GRCm39)	missense	probably benign	0.03
R5213:Or12d12	UTSW	17	37,610,942 (GRCm39)	missense	probably damaging	0.98
R5974:Or12d12	UTSW	17	37,611,229 (GRCm39)	missense	possibly damaging	0.65
R6294:Or12d12	UTSW	17	37,610,444 (GRCm39)	missense	probably benign	0.02
R8784:Or12d12	UTSW	17	37,610,701 (GRCm39)	missense	probably benign	0.34
R9469:Or12d12	UTSW	17	37,610,956 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GTGGAGCATGCTGCAAGAAC -3'
(R):5'- TCTTGGGATGCATAACTCAGC -3'

Sequencing Primer
(F):5'- CATGCTGCAAGAACGGGTC -3'
(R):5'- GGGATGCATAACTCAGCTTCATTTC -3'

Posted On

2015-04-06