Mutagenetix > Incidental Mutation

Incidental Mutation 'R7428:Or5m12'

576221

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

MMRRC Submission

045506-MU

Accession Numbers

Essential gene?

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

Stock #

R7428 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

85734413-85735396 bp(-) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

T to A at 85734475 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Stop codon at position 308 (R308*)

Ref Sequence

ENSEMBL: ENSMUSP00000097496 (fasta)

Gene Model

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

AlphaFold

A2ASU7

Predicted Effect

probably null
Transcript: ENSMUST00000099912
AA Change: R308*

SMART Domains

Protein: ENSMUSP00000097496
Gene: ENSMUSG00000075206
AA Change: R308*

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.2%

Validation Efficiency

100% (71/71)

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: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Anxa10	T	A	8: 62,545,543 (GRCm39)	Y63F	probably benign	Het
Atl2	T	C	17: 80,183,227 (GRCm39)		probably null	Het
B3gnt4	A	G	5: 123,648,794 (GRCm39)	N53S	probably damaging	Het
Bpifb5	G	A	2: 154,067,042 (GRCm39)	M98I	probably benign	Het
Cacna2d3	A	G	14: 28,786,232 (GRCm39)	M585T	probably damaging	Het
Cbarp	T	C	10: 79,967,138 (GRCm39)	D701G	probably damaging	Het
Cep295	A	G	9: 15,244,794 (GRCm39)	S1221P	possibly damaging	Het
Cep350	T	C	1: 155,770,365 (GRCm39)	S1842G	probably benign	Het
Cntrl	T	A	2: 35,060,546 (GRCm39)	W1913R	probably benign	Het
Creb5	C	A	6: 53,658,143 (GRCm39)	Q158K	unknown	Het
Crtam	G	C	9: 40,892,478 (GRCm39)	A266G	probably benign	Het
Cry2	T	C	2: 92,243,392 (GRCm39)	D483G	possibly damaging	Het
Csmd1	A	G	8: 16,073,864 (GRCm39)	F2044L	possibly damaging	Het
Cxcr6	A	T	9: 123,639,305 (GRCm39)	Y109F	probably benign	Het
Cyb5b	A	G	8: 107,897,048 (GRCm39)	D106G	probably benign	Het
D630036H23Rik	T	C	12: 36,431,537 (GRCm39)	R154G	unknown	Het
Ddit4l	A	G	3: 137,331,931 (GRCm39)	E99G	probably damaging	Het
Dmbt1	A	T	7: 130,710,192 (GRCm39)	T1495S	possibly damaging	Het
Gm21886	A	T	18: 80,132,867 (GRCm39)	L97Q	probably damaging	Het
Hlcs	A	G	16: 94,068,758 (GRCm39)	V154A	probably benign	Het
Hpdl	A	T	4: 116,678,062 (GRCm39)	L133Q	probably damaging	Het
Inpp5f	A	G	7: 128,281,529 (GRCm39)	D510G	probably damaging	Het
Ism2	G	T	12: 87,333,769 (GRCm39)	T92K	possibly damaging	Het
Kif13b	T	C	14: 65,025,909 (GRCm39)	I1422T	probably benign	Het
Leng8	C	T	7: 4,146,572 (GRCm39)	R395W	probably damaging	Het
Mocs2	A	G	13: 114,957,400 (GRCm39)	I6V	probably benign	Het
Mthfr	A	G	4: 148,136,060 (GRCm39)	M378V	probably benign	Het
Myh13	A	G	11: 67,223,390 (GRCm39)	T237A	probably damaging	Het
Nr1h4	T	C	10: 89,334,267 (GRCm39)	E41G	probably benign	Het
Nup205	T	A	6: 35,204,494 (GRCm39)	I1460N	probably damaging	Het
Nup98	A	T	7: 101,784,208 (GRCm39)		probably null	Het
Nxpe5	A	C	5: 138,238,022 (GRCm39)	Y194S	probably damaging	Het
Or12e9	G	T	2: 87,202,034 (GRCm39)	V53L	probably benign	Het
Or52m1	A	G	7: 102,289,533 (GRCm39)	I27V	probably benign	Het
Or5m3	A	T	2: 85,838,563 (GRCm39)	I148L	probably benign	Het
Or9s18	A	G	13: 65,300,866 (GRCm39)	Y276C	probably damaging	Het
Otof	G	T	5: 30,547,169 (GRCm39)	D383E	probably damaging	Het
Pcdh9	G	T	14: 94,124,547 (GRCm39)	T541K	probably damaging	Het
Pclo	A	T	5: 14,800,531 (GRCm39)	I1179F		Het
Pde6c	T	C	19: 38,145,984 (GRCm39)		probably null	Het
Pdia6	T	C	12: 17,328,546 (GRCm39)	V167A	probably damaging	Het
Phf7	C	T	14: 30,962,370 (GRCm39)	R145Q	possibly damaging	Het
Plxnb1	T	C	9: 108,937,236 (GRCm39)	V1139A	probably benign	Het
Prkg1	T	C	19: 30,556,235 (GRCm39)	I585M	probably damaging	Het
Prom2	A	G	2: 127,381,731 (GRCm39)	L195P	probably damaging	Het
Ptprd	G	A	4: 76,004,705 (GRCm39)	P17S	probably benign	Het
Rfx4	C	A	10: 84,731,876 (GRCm39)	Q618K	probably benign	Het
Rhobtb1	T	A	10: 69,084,654 (GRCm39)	I15N	probably damaging	Het
Sap30	C	T	8: 57,940,546 (GRCm39)	V19M	possibly damaging	Het
Scrib	G	A	15: 75,933,047 (GRCm39)	T721M	probably damaging	Het
Slc12a1	C	A	2: 125,056,052 (GRCm39)	T861N	probably benign	Het
Slc35f1	T	A	10: 52,965,510 (GRCm39)	S308R	probably damaging	Het
Slc35f4	T	A	14: 49,536,355 (GRCm39)	I427F	probably damaging	Het
Slco4c1	T	C	1: 96,765,245 (GRCm39)	T402A	possibly damaging	Het
Sprr2f	G	A	3: 92,273,251 (GRCm39)	V17M	unknown	Het
Stab1	T	C	14: 30,881,216 (GRCm39)	T605A	probably benign	Het
Taar8c	A	C	10: 23,977,446 (GRCm39)	L122R	probably damaging	Het
Tbc1d2	G	A	4: 46,649,965 (GRCm39)	P24S	probably benign	Het
Tex36	T	C	7: 133,196,866 (GRCm39)		probably null	Het
Tmem145	T	C	7: 25,006,590 (GRCm39)		probably null	Het
Ttn	T	G	2: 76,550,698 (GRCm39)	D31528A	probably damaging	Het
Vars2	A	T	17: 35,977,578 (GRCm39)	V118E	probably benign	Het
Vmn1r195	T	C	13: 22,463,022 (GRCm39)	V164A	probably benign	Het
Vmn2r69	T	C	7: 85,060,467 (GRCm39)	I372M	probably benign	Het
Vmn2r93	A	T	17: 18,546,672 (GRCm39)	H848L	probably benign	Het
Wnt9b	T	C	11: 103,621,643 (GRCm39)	Q338R	probably benign	Het
Zfp128	A	G	7: 12,624,289 (GRCm39)	D219G	probably benign	Het
Zfp541	A	T	7: 15,826,793 (GRCm39)	R1181W	probably damaging	Het
Zfp867	C	T	11: 59,354,760 (GRCm39)	G190S	probably benign	Het
Zfp971	T	A	2: 177,674,967 (GRCm39)	C189S	probably 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
IGL02802:Or5m12	UTSW	2	85,734,733 (GRCm39)	missense	probably damaging	1.00
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
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'- CCCCAAAAGCATATTATTGCCATTC -3'
(R):5'- ACCTGACAGCTGTTACTATGTTC -3'

Sequencing Primer
(F):5'- CTCTTTCTCAAACTTATAACATCTG -3'
(R):5'- CTGACAGCTGTTACTATGTTCTATGG -3'

Posted On

2019-10-07