Mutagenetix > Incidental Mutation

Incidental Mutation 'R9400:Or12d2'

711079

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

Accession Numbers

Essential gene?

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

Stock #

R9400 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

37624302-37625328 bp(-) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

A to T at 37624554 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Stop codon at position 240 (C240*)

Ref Sequence

ENSEMBL: ENSMUSP00000149168 (fasta)

Gene Model

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

AlphaFold

B2RT33

Predicted Effect

probably null
Transcript: ENSMUST00000169373
AA Change: C240*

SMART Domains

Protein: ENSMUSP00000126737
Gene: ENSMUSG00000091531
AA Change: C240*

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 null
Transcript: ENSMUST00000217590
AA Change: C240*

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.9%

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: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700010I14Rik	A	G	17: 9,211,118 (GRCm39)	N89S	probably benign	Het
9930111J21Rik1	C	T	11: 48,839,244 (GRCm39)	E448K	possibly damaging	Het
Acer1	G	A	17: 57,288,990 (GRCm39)	T40M	probably damaging	Het
Adam1a	T	C	5: 121,657,893 (GRCm39)	T467A	probably benign	Het
Agmat	A	G	4: 141,476,981 (GRCm39)	D129G	probably damaging	Het
Ak8	T	A	2: 28,650,011 (GRCm39)	I346N	probably benign	Het
Ankrd12	A	T	17: 66,291,875 (GRCm39)	V1186E	probably damaging	Het
Ankrd27	T	G	7: 35,316,282 (GRCm39)	L516R	probably damaging	Het
Aplp2	C	A	9: 31,075,855 (GRCm39)	R402L	possibly damaging	Het
Aspm	A	G	1: 139,407,641 (GRCm39)	Y2176C	probably damaging	Het
Boc	T	C	16: 44,319,844 (GRCm39)	D380G		Het
Celsr1	G	T	15: 85,917,286 (GRCm39)	S229*	probably null	Het
Chst2	T	C	9: 95,287,642 (GRCm39)	S235G	probably benign	Het
Clca4b	A	G	3: 144,616,953 (GRCm39)	V899A	probably benign	Het
Ddx1	A	G	12: 13,273,703 (GRCm39)	S617P	probably damaging	Het
Etv5	A	T	16: 22,220,476 (GRCm39)	F304I	probably benign	Het
Fmo9	T	G	1: 166,505,243 (GRCm39)	E50A	probably benign	Het
Gbp11	T	C	5: 105,478,841 (GRCm39)	E199G	probably damaging	Het
Gemin5	C	T	11: 58,028,541 (GRCm39)	G893D	probably damaging	Het
Gorab	G	T	1: 163,224,567 (GRCm39)	P78Q	probably damaging	Het
Gprc5a	A	G	6: 135,055,558 (GRCm39)	T2A	probably benign	Het
Gtf3c1	A	G	7: 125,275,683 (GRCm39)	I581T	probably damaging	Het
H6pd	A	G	4: 150,080,248 (GRCm39)	F199S	probably damaging	Het
Hdac3	A	T	18: 38,070,677 (GRCm39)	V426E	possibly damaging	Het
Jag2	G	T	12: 112,875,608 (GRCm39)	Y838*	probably null	Het
Kat6b	G	T	14: 21,659,826 (GRCm39)	R210L	probably damaging	Het
Kctd11	C	A	11: 69,770,544 (GRCm39)	E165*	probably null	Het
Knl1	T	C	2: 118,931,224 (GRCm39)	V1980A	probably damaging	Het
Lilrb4b	T	C	10: 51,357,319 (GRCm39)	S52P	probably benign	Het
Lrp5	T	G	19: 3,635,272 (GRCm39)	M1535L	probably benign	Het
Lrr1	A	G	12: 69,221,476 (GRCm39)	D206G	probably benign	Het
Lrrd1	G	A	5: 3,899,677 (GRCm39)		probably benign	Het
Map3k6	C	A	4: 132,968,467 (GRCm39)	A23E	probably damaging	Het
Mgat4a	T	C	1: 37,502,025 (GRCm39)	D241G	probably damaging	Het
Mpzl3	A	G	9: 44,986,077 (GRCm39)	Y237C	possibly damaging	Het
Mroh1	A	G	15: 76,336,093 (GRCm39)	E1489G	possibly damaging	Het
Myocd	T	C	11: 65,086,934 (GRCm39)	H331R	probably benign	Het
Myoz1	T	A	14: 20,699,504 (GRCm39)	H278L	probably benign	Het
Or1e22	A	T	11: 73,376,807 (GRCm39)	V281E	probably damaging	Het
Or4c104	A	G	2: 88,586,293 (GRCm39)	I242T	possibly damaging	Het
Or5a3	C	A	19: 12,400,274 (GRCm39)	N200K	possibly damaging	Het
Or5b102	T	A	19: 13,041,139 (GRCm39)	Y121*	probably null	Het
Or5b24	T	A	19: 12,912,878 (GRCm39)	Y259N	probably damaging	Het
Otof	A	T	5: 30,540,863 (GRCm39)		probably null	Het
Pcdha1	A	G	18: 37,064,760 (GRCm39)	I475V	probably benign	Het
Pcgf1	A	G	6: 83,057,066 (GRCm39)	E199G	possibly damaging	Het
Pip	C	A	6: 41,828,782 (GRCm39)	T109K	probably benign	Het
Slc12a7	A	G	13: 73,932,689 (GRCm39)	E59G	probably benign	Het
Slc38a2	T	C	15: 96,591,053 (GRCm39)	I237V	probably benign	Het
Slc6a5	T	C	7: 49,595,267 (GRCm39)	V543A	probably benign	Het
Slc9a2	T	C	1: 40,758,211 (GRCm39)	V250A	possibly damaging	Het
Smarcad1	T	C	6: 65,050,214 (GRCm39)	Y278H	probably damaging	Het
Snx7	A	T	3: 117,630,863 (GRCm39)	N248K	probably benign	Het
Spata6	T	A	4: 111,577,428 (GRCm39)	C9S	probably benign	Het
Stra6l	T	A	4: 45,885,293 (GRCm39)	L587Q	probably damaging	Het
Tmem131l	G	T	3: 83,830,293 (GRCm39)	N916K	possibly damaging	Het
Tmprss11c	C	T	5: 86,385,516 (GRCm39)	V319I	probably benign	Het
Tpo	A	T	12: 30,169,441 (GRCm39)	I98K	possibly damaging	Het
Umodl1	A	G	17: 31,215,367 (GRCm39)	T1064A	probably damaging	Het
Vldlr	T	C	19: 27,216,175 (GRCm39)	I332T	probably damaging	Het
Wdr75	T	A	1: 45,843,064 (GRCm39)	L133Q	probably damaging	Het
Zdhhc21	T	C	4: 82,753,687 (GRCm39)	N167S	probably benign	Het
Zfp37	A	T	4: 62,109,904 (GRCm39)	C428S	probably damaging	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
R1749:Or12d2	UTSW	17	37,624,952 (GRCm39)	missense	probably benign	0.05
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

Predicted Primers

PCR Primer
(F):5'- CCTGGTTATTTACACCAAAGCAGAG -3'
(R):5'- TGGATCTGGCCTGTGGAAAC -3'

Sequencing Primer
(F):5'- GATTTCTTCAAATCAGAGCCATCTTC -3'
(R):5'- TGGAAACACTGAGCTCAACCTTTG -3'

Posted On

2022-04-20