Mutagenetix > Incidental Mutation

Incidental Mutation 'R1749:Or12d2'

194236

Institutional Source

Beutler Lab

Gene Symbol

Or12d2

Ensembl Gene

ENSMUSG00000091531

Gene Name

olfactory receptor family 12 subfamily D member 2

Synonyms

Olfr102, MOR250-4, GA_x6K02T2PSCP-1775063-1774137

MMRRC Submission

039781-MU

Accession Numbers

Essential gene?

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

Stock #

R1749 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

37624302-37625328 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 37624952 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 108 (T108A)

Ref Sequence

ENSEMBL: ENSMUSP00000149168 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000169373] [ENSMUST00000217590]

AlphaFold

B2RT33

Predicted Effect

probably benign
Transcript: ENSMUST00000169373
AA Change: T108A

PolyPhen 2 Score 0.046 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000126737
Gene: ENSMUSG00000091531
AA Change: T108A

Domain	Start	End	E-Value	Type
Pfam:7tm_4	29	306	2.6e-52	PFAM
Pfam:7tm_1	39	289	8.3e-23	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000217590
AA Change: T108A

PolyPhen 2 Score 0.046 (Sensitivity: 0.94; Specificity: 0.83)

Coding Region Coverage

1x: 97.4%
3x: 96.9%
10x: 95.4%
20x: 93.0%

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: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ak5	A	T	3: 152,178,557 (GRCm39)	M486K	probably damaging	Het
Arhgef6	T	C	X: 56,383,922 (GRCm39)	M5V	probably benign	Het
Aspn	A	T	13: 49,705,261 (GRCm39)	D41V	probably benign	Het
Atp8a2	C	A	14: 60,097,623 (GRCm39)	E802*	probably null	Het
Barhl2	T	C	5: 106,605,572 (GRCm39)	S46G	unknown	Het
Cacna1e	A	G	1: 154,319,746 (GRCm39)	V1318A	probably damaging	Het
Ccdc69	T	C	11: 54,941,979 (GRCm39)	R176G	probably null	Het
Cdan1	T	C	2: 120,560,280 (GRCm39)	N321S	probably damaging	Het
Cep85l	T	C	10: 53,154,250 (GRCm39)	D681G	probably damaging	Het
Cntrob	A	T	11: 69,213,700 (GRCm39)	V30E	probably damaging	Het
Csmd3	C	T	15: 47,449,056 (GRCm39)	G3646E	probably damaging	Het
Cx3cl1	A	G	8: 95,506,789 (GRCm39)		probably null	Het
Dab1	A	T	4: 104,185,495 (GRCm39)		probably benign	Het
Dennd2c	T	C	3: 103,039,352 (GRCm39)	S167P	possibly damaging	Het
Dock2	A	G	11: 34,182,767 (GRCm39)		probably null	Het
Dok3	GCC	GC	13: 55,672,168 (GRCm39)		probably null	Het
Ebf1	A	T	11: 44,798,835 (GRCm39)	I287L	possibly damaging	Het
Eci1	G	A	17: 24,645,721 (GRCm39)		probably null	Het
Emb	T	A	13: 117,386,242 (GRCm39)	I133N	possibly damaging	Het
Fam91a1	A	G	15: 58,298,443 (GRCm39)	I184V	probably benign	Het
Fbn2	T	C	18: 58,183,348 (GRCm39)	D1779G	probably benign	Het
Fgfr4	T	A	13: 55,315,605 (GRCm39)		probably null	Het
Flt1	G	A	5: 147,591,929 (GRCm39)	T511M	probably benign	Het
Gys1	T	C	7: 45,089,456 (GRCm39)	L205P	probably damaging	Het
Hepacam2	A	G	6: 3,483,379 (GRCm39)	V134A	probably damaging	Het
Htr3a	A	G	9: 48,812,233 (GRCm39)	V291A	probably damaging	Het
Ip6k3	T	A	17: 27,364,053 (GRCm39)	T332S	probably benign	Het
Klra6	A	T	6: 129,995,915 (GRCm39)	F148I	probably damaging	Het
Kntc1	T	C	5: 123,927,162 (GRCm39)	S1206P	probably benign	Het
Mbnl2	T	A	14: 120,626,462 (GRCm39)	C231S	probably damaging	Het
Mdn1	A	T	4: 32,773,952 (GRCm39)	D5521V	probably damaging	Het
Mylip	G	A	13: 45,557,946 (GRCm39)	V52M	possibly damaging	Het
Naip6	A	G	13: 100,444,763 (GRCm39)	S232P	probably benign	Het
Ndc80	T	C	17: 71,808,550 (GRCm39)	K504R	probably benign	Het
Nf2	T	C	11: 4,753,694 (GRCm39)	N220S	possibly damaging	Het
Nfasc	T	A	1: 132,539,370 (GRCm39)	I393F	probably damaging	Het
Pabpc1	T	C	15: 36,608,584 (GRCm39)	Y56C	probably damaging	Het
Pcca	A	G	14: 122,938,542 (GRCm39)	K498R	probably damaging	Het
Phldb1	A	G	9: 44,627,045 (GRCm39)	S467P	probably damaging	Het
Ptprn2	T	C	12: 116,544,048 (GRCm39)	S47P	probably benign	Het
Rtca	A	T	3: 116,291,293 (GRCm39)	I229N	possibly damaging	Het
Sh3rf2	T	A	18: 42,286,359 (GRCm39)	S617R	probably damaging	Het
Slc14a2	T	G	18: 78,190,295 (GRCm39)	T885P	possibly damaging	Het
Sp100	A	C	1: 85,627,357 (GRCm39)	T417P	possibly damaging	Het
Tat	A	T	8: 110,722,846 (GRCm39)	N303Y	probably damaging	Het
Tet2	A	G	3: 133,185,892 (GRCm39)		probably null	Het
Tln2	C	T	9: 67,193,796 (GRCm39)	A1773T	probably benign	Het
Tnks1bp1	A	G	2: 84,893,411 (GRCm39)	S1113G	probably benign	Het
Tspear	G	A	10: 77,705,507 (GRCm39)	E302K	probably benign	Het
Tulp3	A	G	6: 128,314,722 (GRCm39)	L23P	probably damaging	Het
Vti1b	T	C	12: 79,211,807 (GRCm39)	E42G	probably damaging	Het
Yeats2	G	T	16: 20,005,018 (GRCm39)	E333*	probably null	Het
Zfp455	T	G	13: 67,355,073 (GRCm39)	C114G	probably damaging	Het
Zfp532	G	A	18: 65,756,555 (GRCm39)	V163M	possibly damaging	Het
Zfp940	A	T	7: 29,544,952 (GRCm39)	C318*	probably null	Het

Other mutations in Or12d2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00901:Or12d2	APN	17	37,624,598 (GRCm39)	missense	possibly damaging	0.90
IGL01947:Or12d2	APN	17	37,624,556 (GRCm39)	missense	probably damaging	1.00
IGL02164:Or12d2	APN	17	37,624,578 (GRCm39)	missense	probably benign	0.01
IGL02465:Or12d2	APN	17	37,624,802 (GRCm39)	missense	probably damaging	0.99
IGL03095:Or12d2	APN	17	37,624,664 (GRCm39)	missense	probably benign	0.01
R0712:Or12d2	UTSW	17	37,624,975 (GRCm39)	missense	probably damaging	0.96
R1572:Or12d2	UTSW	17	37,624,371 (GRCm39)	missense	probably benign
R3083:Or12d2	UTSW	17	37,625,086 (GRCm39)	missense	probably damaging	1.00
R4022:Or12d2	UTSW	17	37,625,165 (GRCm39)	missense	probably benign
R5203:Or12d2	UTSW	17	37,625,092 (GRCm39)	missense	probably damaging	1.00
R5367:Or12d2	UTSW	17	37,625,147 (GRCm39)	missense	probably damaging	1.00
R5387:Or12d2	UTSW	17	37,625,183 (GRCm39)	missense	probably benign	0.22
R5488:Or12d2	UTSW	17	37,624,559 (GRCm39)	missense	probably damaging	1.00
R6804:Or12d2	UTSW	17	37,625,021 (GRCm39)	missense	probably damaging	1.00
R7442:Or12d2	UTSW	17	37,624,816 (GRCm39)	missense	possibly damaging	0.89
R7473:Or12d2	UTSW	17	37,624,522 (GRCm39)	missense	probably benign	0.03
R8110:Or12d2	UTSW	17	37,624,604 (GRCm39)	missense	probably benign	0.00
R8887:Or12d2	UTSW	17	37,624,642 (GRCm39)	missense	probably damaging	1.00
R9400:Or12d2	UTSW	17	37,624,554 (GRCm39)	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- TGCCTGTGACTGTATTGAGCAGC -3'
(R):5'- GGGAATGGAGCCATCCTGATGATTG -3'

Sequencing Primer
(F):5'- AGCTCAGTGTTTCCACAGG -3'
(R):5'- TGACACTGCCAAAGATGCTG -3'

Posted On

2014-05-23