Mutagenetix > Incidental Mutation

Incidental Mutation 'R5432:Or2m12'

428121

Institutional Source

Beutler Lab

Gene Symbol

Or2m12

Ensembl Gene

ENSMUSG00000050742

Gene Name

olfactory receptor family 2 subfamily M member 12

Synonyms

MOR279-2, GA_x54KRFPKG5P-15738260-15737319, Olfr164

MMRRC Submission

042997-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.088) question?

Stock #

R5432 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

19104544-19105491 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 19104839 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Asparagine at position 218 (I218N)

Ref Sequence

ENSEMBL: ENSMUSP00000149971 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000056727] [ENSMUST00000216157]

AlphaFold

Q8VF87

Predicted Effect

probably benign
Transcript: ENSMUST00000056727
AA Change: I218N

PolyPhen 2 Score 0.064 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000056970
Gene: ENSMUSG00000050742
AA Change: I218N

Domain	Start	End	E-Value	Type
Pfam:7tm_4	32	311	2.3e-49	PFAM
Pfam:7TM_GPCR_Srsx	38	308	8.2e-8	PFAM
Pfam:7tm_1	44	293	5.9e-24	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000216157
AA Change: I218N

PolyPhen 2 Score 0.064 (Sensitivity: 0.94; Specificity: 0.84)

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.0%
20x: 94.5%

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: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aasdhppt	G	A	9: 4,309,349 (GRCm39)	R30*	probably null	Het
Abca9	G	A	11: 110,032,380 (GRCm39)	R746W	possibly damaging	Het
Akap13	A	G	7: 75,252,578 (GRCm39)	E236G	probably damaging	Het
Asb4	A	C	6: 5,430,912 (GRCm39)	R382S	probably damaging	Het
Bahcc1	T	C	11: 120,178,814 (GRCm39)	S2458P	probably benign	Het
Bspry	T	C	4: 62,400,952 (GRCm39)	V148A	probably benign	Het
Cacna2d3	A	C	14: 28,665,512 (GRCm39)		probably null	Het
Cblb	T	A	16: 51,963,228 (GRCm39)	H390Q	probably damaging	Het
Cct8l1	T	C	5: 25,721,305 (GRCm39)	S7P	possibly damaging	Het
Cep295	T	C	9: 15,262,991 (GRCm39)	T191A	possibly damaging	Het
Cts8	A	C	13: 61,398,826 (GRCm39)	F227V	probably benign	Het
Elac1	T	C	18: 73,875,864 (GRCm39)	T56A	possibly damaging	Het
Fjx1	T	C	2: 102,280,864 (GRCm39)	N357S	possibly damaging	Het
Gm5414	T	C	15: 101,533,069 (GRCm39)	T453A	probably damaging	Het
Hcls1	G	A	16: 36,781,910 (GRCm39)	E340K	probably benign	Het
Hrc	C	A	7: 44,986,285 (GRCm39)	H479N	possibly damaging	Het
Ikzf4	A	G	10: 128,470,047 (GRCm39)	V491A	probably damaging	Het
Kalrn	A	G	16: 33,873,992 (GRCm39)	S138P	probably damaging	Het
Lama3	G	T	18: 12,705,123 (GRCm39)	D3062Y	probably damaging	Het
Lcor	A	G	19: 41,573,042 (GRCm39)	E599G	probably damaging	Het
Llgl1	T	C	11: 60,598,449 (GRCm39)	S442P	probably benign	Het
Macf1	T	A	4: 123,353,129 (GRCm39)	K1517*	probably null	Het
Myo9a	A	T	9: 59,772,953 (GRCm39)	Y995F	possibly damaging	Het
Nek3	A	C	8: 22,638,748 (GRCm39)		probably null	Het
Nynrin	A	G	14: 56,101,923 (GRCm39)	T531A	possibly damaging	Het
Or1e16	AGCGGTCGTAGGC	AGC	11: 73,286,480 (GRCm39)		probably null	Het
Pdia4	A	G	6: 47,775,400 (GRCm39)	V470A	possibly damaging	Het
Pinlyp	T	C	7: 24,241,892 (GRCm39)	D105G	probably damaging	Het
Pla2g6	A	G	15: 79,186,817 (GRCm39)		probably null	Het
Plpp7	A	G	2: 31,985,932 (GRCm39)	S37G	probably benign	Het
Prdm11	G	T	2: 92,806,158 (GRCm39)	P264Q	probably benign	Het
Rbl2	G	T	8: 91,828,911 (GRCm39)	R604L	probably benign	Het
Rfx7	A	G	9: 72,500,584 (GRCm39)	T115A	probably benign	Het
Samd4	A	G	14: 47,311,519 (GRCm39)	Q279R	probably benign	Het
Sdha	G	T	13: 74,475,068 (GRCm39)	A591D	probably damaging	Het
Secisbp2	AAGCAGCAGCAGCAGCAGCA	AAGCAGCAGCAGCAGCA	13: 51,828,002 (GRCm39)		probably benign	Het
Sephs2	G	A	7: 126,872,977 (GRCm39)	R39W	probably damaging	Het
Serpina3f	T	C	12: 104,186,577 (GRCm39)	I381T	possibly damaging	Het
Shd	A	T	17: 56,283,214 (GRCm39)	Q281L	probably damaging	Het
Sik3	A	G	9: 46,034,539 (GRCm39)	S98G	probably benign	Het
Srgap1	T	A	10: 121,705,728 (GRCm39)	N232I	probably damaging	Het
Thbs1	A	T	2: 117,945,164 (GRCm39)	N246Y	probably benign	Het
Usp9y	A	G	Y: 1,368,022 (GRCm39)		probably null	Het
Vwde	A	G	6: 13,190,591 (GRCm39)	M500T	probably damaging	Het
Wdr72	T	G	9: 74,183,228 (GRCm39)	S1053R	probably damaging	Het
Yif1b	T	C	7: 28,945,393 (GRCm39)	C192R	probably damaging	Het
Zc3h13	A	G	14: 75,568,687 (GRCm39)	S1327G	probably damaging	Het
Zfp1004	A	G	2: 150,033,901 (GRCm39)	N74S	possibly damaging	Het

Other mutations in Or2m12

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01529:Or2m12	APN	16	19,105,450 (GRCm39)	missense	probably benign	0.01
IGL01569:Or2m12	APN	16	19,105,410 (GRCm39)	missense	probably benign	0.28
IGL01619:Or2m12	APN	16	19,104,909 (GRCm39)	missense	probably damaging	1.00
IGL02101:Or2m12	APN	16	19,105,363 (GRCm39)	missense	probably benign
IGL02201:Or2m12	APN	16	19,105,212 (GRCm39)	missense	probably benign	0.03
IGL02730:Or2m12	APN	16	19,105,432 (GRCm39)	missense	probably benign	0.00
IGL03228:Or2m12	APN	16	19,105,140 (GRCm39)	missense	probably damaging	1.00
R1566:Or2m12	UTSW	16	19,105,077 (GRCm39)	missense	possibly damaging	0.76
R1817:Or2m12	UTSW	16	19,104,627 (GRCm39)	missense	probably damaging	1.00
R1870:Or2m12	UTSW	16	19,105,357 (GRCm39)	missense	probably damaging	1.00
R1918:Or2m12	UTSW	16	19,105,052 (GRCm39)	missense	probably benign	0.03
R2202:Or2m12	UTSW	16	19,105,047 (GRCm39)	missense	probably benign	0.03
R2265:Or2m12	UTSW	16	19,105,305 (GRCm39)	missense	probably damaging	1.00
R3792:Or2m12	UTSW	16	19,104,696 (GRCm39)	missense	possibly damaging	0.54
R4285:Or2m12	UTSW	16	19,104,714 (GRCm39)	missense	probably damaging	1.00
R4961:Or2m12	UTSW	16	19,104,726 (GRCm39)	missense	probably damaging	1.00
R5022:Or2m12	UTSW	16	19,104,809 (GRCm39)	missense	probably damaging	1.00
R5827:Or2m12	UTSW	16	19,105,182 (GRCm39)	missense	probably benign	0.24
R6154:Or2m12	UTSW	16	19,105,181 (GRCm39)	missense	probably damaging	0.99
R6188:Or2m12	UTSW	16	19,105,307 (GRCm39)	missense	probably damaging	1.00
R6367:Or2m12	UTSW	16	19,104,822 (GRCm39)	missense	probably damaging	1.00
R8508:Or2m12	UTSW	16	19,105,451 (GRCm39)	missense	probably benign	0.01
R8523:Or2m12	UTSW	16	19,104,851 (GRCm39)	missense	probably benign	0.13
R8902:Or2m12	UTSW	16	19,105,383 (GRCm39)	missense	probably damaging	0.98
R8953:Or2m12	UTSW	16	19,105,269 (GRCm39)	missense	probably benign	0.27
R9313:Or2m12	UTSW	16	19,105,100 (GRCm39)	missense	probably benign	0.00
R9542:Or2m12	UTSW	16	19,104,943 (GRCm39)	missense	probably benign	0.01
R9651:Or2m12	UTSW	16	19,105,489 (GRCm39)	start codon destroyed	probably null

Predicted Primers

PCR Primer
(F):5'- GCTGACACTATTTTGTCCTGGG -3'
(R):5'- ACAAAATATGTGGCCTCATGGC -3'

Sequencing Primer
(F):5'- TCCTGGGTGGGAGAACGAC -3'
(R):5'- GATGGTATAATAGAAGTTGCAGCTGC -3'

Posted On

2016-09-01