Mutagenetix > Incidental Mutation

Incidental Mutation 'R6188:Or2m12'

502338

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

044328-MU

Accession Numbers

Essential gene?

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

Stock #

R6188 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

19104544-19105491 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 19105307 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Threonine at position 62 (M62T)

Ref Sequence

ENSEMBL: ENSMUSP00000149971 (fasta)

Gene Model

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

AlphaFold

Q8VF87

Predicted Effect

probably damaging
Transcript: ENSMUST00000056727
AA Change: M62T

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000056970
Gene: ENSMUSG00000050742
AA Change: M62T

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 damaging
Transcript: ENSMUST00000216157
AA Change: M62T

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

Meta Mutation Damage Score

0.1789

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.5%

Validation Efficiency

98% (61/62)

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: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2210408I21Rik	A	T	13: 77,331,850 (GRCm39)	I88F	possibly damaging	Het
4930407I10Rik	T	C	15: 81,943,471 (GRCm39)	S28P	probably benign	Het
a	A	T	2: 154,889,602 (GRCm39)	N56I	probably damaging	Het
Apoe	C	A	7: 19,432,305 (GRCm39)		probably benign	Het
Aspm	C	A	1: 139,406,977 (GRCm39)	R1955S	possibly damaging	Het
Boc	G	A	16: 44,319,911 (GRCm39)	L358F	possibly damaging	Het
Cadm2	A	T	16: 66,612,195 (GRCm39)		probably null	Het
Ccdc183	T	C	2: 25,499,764 (GRCm39)	E384G	probably benign	Het
Ccl12	A	G	11: 81,993,943 (GRCm39)	T67A	probably damaging	Het
Cep120	T	C	18: 53,857,529 (GRCm39)	D312G	probably benign	Het
Cmya5	A	G	13: 93,229,952 (GRCm39)	V1712A	possibly damaging	Het
Cmya5	A	G	13: 93,233,784 (GRCm39)	S435P	possibly damaging	Het
Dmbt1	A	T	7: 130,699,361 (GRCm39)	N997Y	probably damaging	Het
Dock2	T	A	11: 34,453,396 (GRCm39)	I86F	probably damaging	Het
Duox1	A	G	2: 122,150,275 (GRCm39)	Q168R	probably benign	Het
Epb41l4a	T	A	18: 33,965,718 (GRCm39)	I370L	probably benign	Het
Erc2	T	A	14: 28,039,208 (GRCm39)	D950E	probably damaging	Het
Exoc6b	A	G	6: 84,832,479 (GRCm39)	V405A	probably damaging	Het
F13a1	T	C	13: 37,209,752 (GRCm39)	D71G	probably benign	Het
Fam151a	A	T	4: 106,602,696 (GRCm39)	Y205F	possibly damaging	Het
Fcnb	C	A	2: 27,969,202 (GRCm39)	R165M	possibly damaging	Het
Fndc3a	C	T	14: 72,827,401 (GRCm39)	V50I	probably damaging	Het
Gm13276	C	T	4: 88,704,096 (GRCm39)	Q51*	probably null	Het
Grik1	T	C	16: 87,852,959 (GRCm39)	T75A	probably benign	Het
Grip2	A	G	6: 91,740,514 (GRCm39)	L1015P	probably damaging	Het
Hnrnpk	A	G	13: 58,541,967 (GRCm39)	F339L	probably benign	Het
Iqgap3	A	G	3: 88,006,200 (GRCm39)	D537G	probably benign	Het
Kars1	C	T	8: 112,735,113 (GRCm39)		probably null	Het
Kpna7	G	T	5: 144,929,654 (GRCm39)	N390K	probably damaging	Het
Krt36	A	T	11: 99,993,246 (GRCm39)	S410T	probably benign	Het
Lingo4	A	G	3: 94,310,157 (GRCm39)	E365G	probably damaging	Het
Liph	T	C	16: 21,803,018 (GRCm39)	D17G	probably benign	Het
Lmbrd1	C	A	1: 24,750,626 (GRCm39)	N166K	probably benign	Het
Lypd9	T	C	11: 58,337,182 (GRCm39)	E97G	probably benign	Het
Nup155	T	C	15: 8,139,059 (GRCm39)	S44P	probably damaging	Het
Or4a72	A	T	2: 89,405,538 (GRCm39)	C177*	probably null	Het
Or5a3	A	G	19: 12,399,974 (GRCm39)	I100M	probably benign	Het
Pcdhga6	T	C	18: 37,841,324 (GRCm39)	V348A	probably benign	Het
Phc3	G	A	3: 30,991,198 (GRCm39)	Q295*	probably null	Het
Phyh	A	G	2: 4,932,301 (GRCm39)	E129G	probably damaging	Het
Polb	A	G	8: 23,137,463 (GRCm39)	S96P	probably damaging	Het
Ppp1r9a	A	T	6: 5,158,113 (GRCm39)	K1174*	probably null	Het
Ppp1r9b	C	T	11: 94,882,662 (GRCm39)	R97W	probably damaging	Het
Pttg1ip	T	C	10: 77,418,342 (GRCm39)		probably null	Het
Pygm	G	A	19: 6,447,967 (GRCm39)		probably null	Het
Rgs20	GGAGAGAG	GGAGAG	1: 5,091,106 (GRCm39)		probably null	Het
Rlf	T	C	4: 121,027,963 (GRCm39)	H111R	probably damaging	Het
Rmdn3	A	G	2: 118,969,831 (GRCm39)		probably null	Het
Ror2	T	A	13: 53,265,347 (GRCm39)	T570S	probably damaging	Het
Sel1l3	A	C	5: 53,313,061 (GRCm39)	I542R	possibly damaging	Het
Serpinb3d	A	G	1: 107,006,237 (GRCm39)	F284L	probably damaging	Het
Slc35e2	C	T	4: 155,694,483 (GRCm39)	P10L	probably benign	Het
Slc38a2	A	G	15: 96,590,397 (GRCm39)		probably null	Het
Spata31e2	T	A	1: 26,724,784 (GRCm39)	Y132F	probably damaging	Het
Spata31h1	A	G	10: 82,121,091 (GRCm39)	I3973T	probably damaging	Het
Tet2	T	C	3: 133,186,087 (GRCm39)	S1117G	probably benign	Het
Trav15-1-dv6-1	C	T	14: 53,797,414 (GRCm39)	A21V	probably damaging	Het
Tsr3	G	T	17: 25,460,835 (GRCm39)	D234Y	probably null	Het
Vmn1r220	A	T	13: 23,368,084 (GRCm39)	L204H	probably damaging	Het
Vmn1r3	A	T	4: 3,185,017 (GRCm39)	S97T	probably damaging	Het
Zfp599	A	G	9: 22,161,286 (GRCm39)	F293S	probably damaging	Het
Zfp983	A	G	17: 21,877,935 (GRCm39)	Y46C	probably 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
R5432:Or2m12	UTSW	16	19,104,839 (GRCm39)	missense	probably benign	0.06
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
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'- ATAACGGTCATAAGCCATTGCG -3'
(R):5'- ATATTCTGTCTCCTCAGTGAACATGC -3'

Sequencing Primer
(F):5'- CAACCATGGAGATGGACT -3'
(R):5'- TCCTCAGTGAACATGCTCATGATAC -3'

Posted On

2018-02-27