Mutagenetix > Incidental Mutation

Incidental Mutation 'R6154:Or2m12'

489482

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

044301-MU

Accession Numbers

Essential gene?

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

Stock #

R6154 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

19104544-19105491 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 19105181 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Lysine at position 104 (I104K)

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: I104K

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000056970
Gene: ENSMUSG00000050742
AA Change: I104K

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: I104K

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.1%
20x: 94.8%

Validation Efficiency

97% (70/72)

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: 72 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acss3	T	G	10: 106,959,210 (GRCm39)	I79L	probably benign	Het
Adam6a	C	T	12: 113,509,292 (GRCm39)	T555I	probably benign	Het
Adap1	A	G	5: 139,293,531 (GRCm39)	V60A	possibly damaging	Het
Afg3l2	G	T	18: 67,554,329 (GRCm39)	L458M	probably damaging	Het
Angpt1	T	C	15: 42,387,051 (GRCm39)	E101G	probably damaging	Het
Asxl2	T	C	12: 3,546,593 (GRCm39)	V459A	possibly damaging	Het
Cabs1	C	T	5: 88,127,613 (GRCm39)	T88I	possibly damaging	Het
Camta2	G	A	11: 70,569,211 (GRCm39)	A578V	probably damaging	Het
Cdc16	A	G	8: 13,818,609 (GRCm39)	N316D	possibly damaging	Het
Chrm3	T	A	13: 9,928,476 (GRCm39)	M187L	possibly damaging	Het
Clcn4	T	C	7: 7,294,481 (GRCm39)	T367A	probably benign	Het
Clcn7	T	C	17: 25,376,928 (GRCm39)	S654P	probably damaging	Het
Col6a3	T	A	1: 90,701,387 (GRCm39)	T2510S	unknown	Het
Crisp4	T	C	1: 18,193,012 (GRCm39)	E192G	possibly damaging	Het
Dmbt1	T	A	7: 130,711,370 (GRCm39)		probably null	Het
Dnah5	T	G	15: 28,204,177 (GRCm39)	L18R	probably benign	Het
Dnah9	T	G	11: 65,746,164 (GRCm39)	D3983A	probably benign	Het
Dock5	C	A	14: 68,097,361 (GRCm39)	V71L	probably benign	Het
Dync1h1	T	C	12: 110,584,427 (GRCm39)	V610A	probably damaging	Het
Dynlrb2	A	G	8: 117,242,428 (GRCm39)	Y86C	probably benign	Het
Ep400	T	C	5: 110,903,799 (GRCm39)	I267V	probably damaging	Het
Gaa	A	G	11: 119,169,178 (GRCm39)	Y575C	probably damaging	Het
Gm8094	T	A	14: 42,934,020 (GRCm39)	D24V	probably benign	Het
Grina	T	C	15: 76,133,087 (GRCm39)	I244T	possibly damaging	Het
Haus6	A	G	4: 86,501,993 (GRCm39)	L626P	possibly damaging	Het
Hexd	A	T	11: 121,112,097 (GRCm39)	H439L	probably benign	Het
Ifna12	A	T	4: 88,521,531 (GRCm39)	C5*	probably null	Het
Igf2bp2	G	T	16: 21,894,843 (GRCm39)	S300*	probably null	Het
Ighv6-5	T	C	12: 114,380,362 (GRCm39)	R71G	probably benign	Het
Lrrc37	A	G	11: 103,504,969 (GRCm39)	V2333A	probably benign	Het
Lrrn4cl	T	C	19: 8,829,252 (GRCm39)	S77P	probably damaging	Het
Mast4	A	G	13: 102,923,929 (GRCm39)	L302P	probably damaging	Het
Mink1	T	C	11: 70,500,927 (GRCm39)	V831A	possibly damaging	Het
Mme	T	A	3: 63,207,674 (GRCm39)	I40N	probably damaging	Het
Myh2	A	G	11: 67,077,438 (GRCm39)	T858A	probably benign	Het
Ncbp3	T	A	11: 72,940,700 (GRCm39)	Y67N	probably damaging	Het
Nedd1	T	A	10: 92,534,104 (GRCm39)	I349F	possibly damaging	Het
Nek11	A	T	9: 105,200,368 (GRCm39)	*81K	probably null	Het
Nrip1	A	G	16: 76,090,718 (GRCm39)	Y280H	probably damaging	Het
Obsl1	T	C	1: 75,476,788 (GRCm39)	D722G	probably benign	Het
Or10ag55-ps1	T	G	2: 87,139,902 (GRCm39)	S256R	probably benign	Het
Or4c29	A	G	2: 88,740,734 (GRCm39)	M1T	probably null	Het
Or5i1	A	G	2: 87,613,100 (GRCm39)	D72G	possibly damaging	Het
Or6c7	C	T	10: 129,323,545 (GRCm39)	T222I	probably damaging	Het
Pcdhb6	A	G	18: 37,467,966 (GRCm39)	I296V	probably benign	Het
Pcnx2	G	T	8: 126,489,552 (GRCm39)	L1681M	probably damaging	Het
Pdlim5	T	C	3: 141,983,674 (GRCm39)	R360G	possibly damaging	Het
Peli2	C	T	14: 48,488,051 (GRCm39)	Q81*	probably null	Het
Pitpnb	C	T	5: 111,486,263 (GRCm39)	Q56*	probably null	Het
Ppp1r3a	A	G	6: 14,754,603 (GRCm39)	S215P	possibly damaging	Het
Prrt3	A	G	6: 113,471,989 (GRCm39)	Y728H	probably damaging	Het
Rsf1	A	AAGGCGACGG	7: 97,229,111 (GRCm39)		probably null	Het
Rsf1	GCG	GCGACGGCGACG	7: 97,229,114 (GRCm39)		probably benign	Het
Sbno1	T	C	5: 124,516,542 (GRCm39)	H1277R	possibly damaging	Het
Siglecg	C	A	7: 43,061,441 (GRCm39)	N481K	possibly damaging	Het
Sirt6	C	T	10: 81,462,339 (GRCm39)	G20D	probably damaging	Het
Sit1	C	A	4: 43,482,981 (GRCm39)	R89S	probably benign	Het
Slc7a12	A	G	3: 14,546,094 (GRCm39)	R80G	probably damaging	Het
Smok3c	T	A	5: 138,062,747 (GRCm39)	M78K	probably benign	Het
Stk10	T	A	11: 32,553,654 (GRCm39)		probably null	Het
Tada2b	A	G	5: 36,634,008 (GRCm39)	V190A	probably damaging	Het
Tnk1	C	T	11: 69,747,780 (GRCm39)	V41I	probably damaging	Het
Tpr	T	A	1: 150,299,567 (GRCm39)	V1146E	probably benign	Het
Trappc9	T	C	15: 72,929,930 (GRCm39)	D142G	probably benign	Het
Trpm3	T	C	19: 22,965,178 (GRCm39)	Y1558H	probably damaging	Het
Unc5c	C	A	3: 141,383,914 (GRCm39)	S97R	probably damaging	Het
Vmn1r172	T	C	7: 23,359,583 (GRCm39)	I156T	probably damaging	Het
Vmn2r51	A	T	7: 9,821,921 (GRCm39)	M588K	possibly damaging	Het
Vps26a	T	G	10: 62,304,119 (GRCm39)	E117D	probably damaging	Het
Zfp451	A	T	1: 33,842,627 (GRCm39)		probably benign	Het
Zfp534	C	A	4: 147,759,145 (GRCm39)	R508I	probably benign	Het
Zp3r	C	T	1: 130,526,642 (GRCm39)	C187Y	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
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'- AAAATGAGGTATTTCTCTGGCACC -3'
(R):5'- TCATGGTGATTCTCATCTACTTGG -3'

Sequencing Primer
(F):5'- GGTATTTCTCTGGCACCACAATATG -3'
(R):5'- GGTGATTCTCATCTACTTGGATGCTC -3'

Posted On

2017-10-10