Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02802:Or5m12'

392069

Institutional Source

Beutler Lab

Gene Symbol

Or5m12

Ensembl Gene

ENSMUSG00000075206

Gene Name

olfactory receptor family 5 subfamily M member 12

Synonyms

Olfr1024, GA_x6K02T2Q125-47384320-47383337, MOR197-1

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.153) question?

Stock #

IGL02802 (G1)

Quality Score

205

Status

Validated

Chromosome

Chromosomal Location

85734413-85735396 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 85734733 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 222 (S222P)

Ref Sequence

ENSEMBL: ENSMUSP00000097496 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000099912]

AlphaFold

A2ASU7

Predicted Effect

probably damaging
Transcript: ENSMUST00000099912
AA Change: S222P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000097496
Gene: ENSMUSG00000075206
AA Change: S222P

Domain	Start	End	E-Value	Type
Pfam:7tm_4	36	313	7.6e-52	PFAM
Pfam:7tm_1	46	295	4.1e-25	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000215677

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 0.0%
3x: 0.0%
10x: 0.0%
20x: 0.0%

Validation Efficiency

100% (63/63)

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
AA986860	A	C	1: 130,671,130 (GRCm39)	T451P	probably benign	Het
Actbl2	A	G	13: 111,392,310 (GRCm39)	E215G	probably damaging	Het
Adh6b	A	G	3: 138,058,545 (GRCm39)	T198A	possibly damaging	Het
Bicd2	A	G	13: 49,531,804 (GRCm39)	K349E	probably damaging	Het
Bsnd	T	A	4: 106,349,231 (GRCm39)	D3V	probably damaging	Het
Cd83	T	A	13: 43,953,147 (GRCm39)	L142Q	probably null	Het
Cdh20	A	G	1: 110,065,655 (GRCm39)	E643G	probably damaging	Het
Ces1b	T	G	8: 93,783,594 (GRCm39)	E542A	possibly damaging	Het
Cfhr2	A	G	1: 139,738,762 (GRCm39)		probably benign	Het
Clip1	T	C	5: 123,769,186 (GRCm39)	D471G	probably damaging	Het
Cntn5	C	A	9: 10,048,683 (GRCm39)		probably null	Het
Cntnap2	A	T	6: 46,147,179 (GRCm39)	D475V	probably damaging	Het
Cntnap5c	T	C	17: 58,612,679 (GRCm39)	F906S	probably benign	Het
Cobll1	A	T	2: 64,928,663 (GRCm39)	S888T	probably damaging	Het
Csf2rb	G	A	15: 78,223,103 (GRCm39)	R105Q	probably benign	Het
Ctnnd1	C	A	2: 84,454,806 (GRCm39)	M1I	probably null	Het
Cxxc1	C	T	18: 74,352,481 (GRCm39)	Q354*	probably null	Het
Dnhd1	A	G	7: 105,304,930 (GRCm39)	D324G	possibly damaging	Het
Donson	T	C	16: 91,478,196 (GRCm39)	D435G	possibly damaging	Het
Ephb1	T	C	9: 101,887,218 (GRCm39)	K474E	possibly damaging	Het
Erbin	A	G	13: 104,004,638 (GRCm39)	L130P	probably damaging	Het
Fam221a	C	T	6: 49,355,411 (GRCm39)	T171I	probably damaging	Het
Farp2	A	G	1: 93,456,332 (GRCm39)	E5G	probably damaging	Het
Fblim1	A	G	4: 141,317,431 (GRCm39)	S85P	possibly damaging	Het
Fhl2	A	T	1: 43,162,761 (GRCm39)	C251*	probably null	Het
Glis2	T	C	16: 4,429,735 (GRCm39)		probably null	Het
Gm10715	A	C	9: 3,038,062 (GRCm39)		probably benign	Het
Gm10717	C	T	9: 3,031,999 (GRCm39)	P127S	probably benign	Het
Heatr6	T	C	11: 83,651,762 (GRCm39)	L246P	probably damaging	Het
Igkv5-39	G	A	6: 69,877,457 (GRCm39)	P100S	probably benign	Het
Jup	T	C	11: 100,269,204 (GRCm39)	D403G	probably benign	Het
Kank1	T	C	19: 25,388,963 (GRCm39)	Y879H	probably damaging	Het
Kcna3	G	A	3: 106,944,369 (GRCm39)	E211K	probably damaging	Het
Klc3	A	T	7: 19,129,049 (GRCm39)	I440N	possibly damaging	Het
Mmp1b	T	C	9: 7,384,709 (GRCm39)	T280A	probably benign	Het
Nat3	A	T	8: 68,000,160 (GRCm39)	Q13L	probably benign	Het
Nckap1l	A	G	15: 103,372,963 (GRCm39)	N272S	probably benign	Het
Nrn1	C	A	13: 36,914,080 (GRCm39)		probably null	Het
Nsd3	T	C	8: 26,130,922 (GRCm39)	S96P	probably damaging	Het
Ntaq1	A	G	15: 58,011,833 (GRCm39)	S65G	probably benign	Het
Nudt16l1	C	T	16: 4,757,131 (GRCm39)	R43C	probably damaging	Het
Obscn	T	A	11: 58,891,310 (GRCm39)	Q7074L	unknown	Het
Or4p20	A	G	2: 88,253,832 (GRCm39)	V179A	probably benign	Het
Or5p78	A	T	7: 108,211,669 (GRCm39)	I52F	probably damaging	Het
Or6c206	T	A	10: 129,097,136 (GRCm39)		probably null	Het
Or8b37	T	G	9: 37,959,345 (GRCm39)	Y276D	probably damaging	Het
Or8k30	T	A	2: 86,339,290 (GRCm39)	N162K	probably benign	Het
P4htm	C	T	9: 108,460,055 (GRCm39)	D240N	probably benign	Het
Plekhm2	A	T	4: 141,369,835 (GRCm39)		probably benign	Het
Plppr5	T	C	3: 117,456,228 (GRCm39)	S250P	probably damaging	Het
Pmis2	T	C	7: 30,370,919 (GRCm39)	K12E	probably benign	Het
Ppox	A	T	1: 171,105,066 (GRCm39)	L374*	probably null	Het
Rcc1	C	T	4: 132,065,067 (GRCm39)	R139H	probably benign	Het
Speer4c1	A	C	5: 15,919,214 (GRCm39)		probably benign	Het
Tdo2	A	G	3: 81,883,004 (GRCm39)		probably benign	Het
Tent2	A	T	13: 93,285,449 (GRCm39)	N436K	probably damaging	Het
Thbs2	A	G	17: 14,904,389 (GRCm39)	I326T	probably benign	Het
Thrap3	T	C	4: 126,059,157 (GRCm39)		probably benign	Het
Ttc6	A	T	12: 57,622,654 (GRCm39)	M18L	probably benign	Het
Ttn	C	T	2: 76,604,924 (GRCm39)	V18337I	probably damaging	Het
Txndc2	A	G	17: 65,946,601 (GRCm39)	S34P	possibly damaging	Het
Vps72	T	A	3: 95,026,545 (GRCm39)	C163*	probably null	Het
Zfp831	T	A	2: 174,486,945 (GRCm39)	I540N	possibly damaging	Het

Other mutations in Or5m12

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01632:Or5m12	APN	2	85,734,714 (GRCm39)	missense	probably benign
IGL02108:Or5m12	APN	2	85,734,494 (GRCm39)	missense	possibly damaging	0.67
IGL02738:Or5m12	APN	2	85,735,293 (GRCm39)	missense	probably benign	0.06
IGL03343:Or5m12	APN	2	85,735,285 (GRCm39)	missense	probably benign
R0265:Or5m12	UTSW	2	85,734,591 (GRCm39)	missense	probably benign	0.01
R0271:Or5m12	UTSW	2	85,734,633 (GRCm39)	missense	possibly damaging	0.68
R0432:Or5m12	UTSW	2	85,734,501 (GRCm39)	missense	probably damaging	1.00
R0501:Or5m12	UTSW	2	85,735,348 (GRCm39)	missense	probably damaging	1.00
R0504:Or5m12	UTSW	2	85,735,030 (GRCm39)	missense	possibly damaging	0.95
R1513:Or5m12	UTSW	2	85,735,015 (GRCm39)	missense	probably damaging	1.00
R2224:Or5m12	UTSW	2	85,735,099 (GRCm39)	missense	probably benign	0.11
R2516:Or5m12	UTSW	2	85,734,900 (GRCm39)	missense	probably benign	0.01
R3845:Or5m12	UTSW	2	85,735,081 (GRCm39)	missense	probably damaging	0.99
R4871:Or5m12	UTSW	2	85,734,715 (GRCm39)	missense	probably benign
R4889:Or5m12	UTSW	2	85,735,092 (GRCm39)	missense	possibly damaging	0.48
R4890:Or5m12	UTSW	2	85,735,092 (GRCm39)	missense	possibly damaging	0.48
R5543:Or5m12	UTSW	2	85,734,672 (GRCm39)	missense	probably damaging	1.00
R5865:Or5m12	UTSW	2	85,734,865 (GRCm39)	missense	probably benign	0.00
R6254:Or5m12	UTSW	2	85,734,849 (GRCm39)	missense	probably damaging	1.00
R6331:Or5m12	UTSW	2	85,734,560 (GRCm39)	missense	probably benign	0.32
R6465:Or5m12	UTSW	2	85,734,883 (GRCm39)	missense	probably benign	0.05
R7183:Or5m12	UTSW	2	85,734,486 (GRCm39)	missense	probably benign	0.00
R7427:Or5m12	UTSW	2	85,734,475 (GRCm39)	nonsense	probably null
R7428:Or5m12	UTSW	2	85,734,475 (GRCm39)	nonsense	probably null
R7552:Or5m12	UTSW	2	85,734,447 (GRCm39)	missense	probably benign	0.01
R7654:Or5m12	UTSW	2	85,734,663 (GRCm39)	missense	possibly damaging	0.95
R7674:Or5m12	UTSW	2	85,734,880 (GRCm39)	missense	probably damaging	1.00
R7980:Or5m12	UTSW	2	85,734,942 (GRCm39)	missense	probably benign	0.22
R8209:Or5m12	UTSW	2	85,734,547 (GRCm39)	missense	probably benign	0.14
R8226:Or5m12	UTSW	2	85,734,547 (GRCm39)	missense	probably benign	0.14
Z1177:Or5m12	UTSW	2	85,735,389 (GRCm39)	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- TTTTGCCTTGCTCAACAGAC -3'
(R):5'- CCAGTTTGCATTTGCCTGG -3'

Sequencing Primer
(F):5'- AACAGACCTCTCATTTGCTGG -3'
(R):5'- GCACAATGCAGGTGATATTGACTTC -3'

Posted On

2016-06-09