Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL02372:Pomt2'

290982

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Pomt2

Ensembl Gene

ENSMUSG00000034126

Gene Name

protein-O-mannosyltransferase 2

Synonyms

A830009D15Rik

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL02372

Quality Score

Status

Chromosome

Chromosomal Location

87106861-87147968 bp(-) (GRCm38)

Type of Mutation

splice site

DNA Base Change (assembly)

C to T at 87122835 bp

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000152370 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000037788] [ENSMUST00000222634]

Predicted Effect

probably benign
Transcript: ENSMUST00000037788

SMART Domains

Protein: ENSMUSP00000035260
Gene: ENSMUSG00000034126

Domain	Start	End	E-Value	Type
low complexity region	4	24	N/A	INTRINSIC
Pfam:PMT	132	376	5.4e-91	PFAM
MIR	404	460	4.05e-9	SMART
MIR	473	529	5.52e-11	SMART
MIR	534	591	1.21e-7	SMART
Pfam:PMT_4TMC	608	818	5.9e-55	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000221252

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000222147

Predicted Effect

probably benign
Transcript: ENSMUST00000222634

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: This gene encodes an integral membrane protein that belongs to the dolichyl-phosphate-mannose-protein mannosyltransferase family. The encoded enzyme is found in the membrane of the endoplasmic reticulum. This protein is a component of the protein O-mannosyltransferase enzyme complex which is involved in modification of the protein alpha-dystroglycan. Mutations in the human gene are a cause of different forms of muscular dystrophy-dystroglycanopathy (MDDG), type A2 (also known as Walker-Warburg syndrome), type B2 and type C2 (also known as limb-girdle muscular dystrophy). [provided by RefSeq, Sep 2015]
PHENOTYPE: Mice homozygous for one knock-out allele die between E8.5 and E9.5 with abnormal Reichert's membrane and runting. Mice homozygous for another allele die before implantation and arrest at the morula stage. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 32 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700001P01Rik	A	T	11: 97,775,699	Y54N	probably damaging	Het
Alyref	A	G	11: 120,594,875		probably benign	Het
Ankrd27	A	G	7: 35,633,036		probably null	Het
Arc	A	G	15: 74,672,105	S90P	probably damaging	Het
Atp6v1e1	T	A	6: 120,801,123	K150N	probably benign	Het
Atrn	T	C	2: 131,002,754		probably benign	Het
Ccnb1	A	G	13: 100,781,316	Y259H	probably damaging	Het
Celsr1	A	G	15: 85,929,907	V1938A	probably benign	Het
Ckmt2	A	G	13: 91,865,224	V37A	probably benign	Het
Dpys	G	T	15: 39,793,271	P467T	probably benign	Het
Ehbp1l1	T	C	19: 5,710,834	T1535A	possibly damaging	Het
Eif4enif1	T	C	11: 3,229,986	L302P	probably benign	Het
Faf1	T	G	4: 109,935,582	F584V	probably benign	Het
Glb1l2	G	A	9: 26,796,476	R72C	probably damaging	Het
Gm9892	T	C	8: 52,196,836		noncoding transcript	Het
Hecw1	G	T	13: 14,264,121	D892E	probably damaging	Het
Hr	A	G	14: 70,558,350	E474G	possibly damaging	Het
Ltbp1	T	G	17: 75,252,406	F297V	probably damaging	Het
Myc	A	G	15: 61,987,858	N127D	probably damaging	Het
Nbn	T	A	4: 15,986,613	N671K	probably benign	Het
Nup210l	C	A	3: 90,201,971	T1607N	possibly damaging	Het
Olfr281	A	T	15: 98,456,828	T173S	probably damaging	Het
Osbpl1a	T	A	18: 12,841,313	K22*	probably null	Het
Phf20l1	T	C	15: 66,641,801	L942P	probably damaging	Het
Plekhg5	C	T	4: 152,102,080	R40W	probably damaging	Het
Rab3gap1	A	G	1: 127,919,561		probably benign	Het
Sbk1	T	C	7: 126,291,058	L81P	probably damaging	Het
Scrib	G	A	15: 76,048,255	P1524S	probably damaging	Het
Smpdl3a	T	A	10: 57,807,515	N240K	probably benign	Het
Smyd4	A	T	11: 75,390,285	K195*	probably null	Het
Tulp3	A	T	6: 128,327,598	M231K	possibly damaging	Het
Zfp87	A	G	13: 67,520,620		probably benign	Het

Other mutations in Pomt2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00495:Pomt2	APN	12	87124856	missense	probably damaging	1.00
IGL00508:Pomt2	APN	12	87119627	missense	probably damaging	1.00
IGL01069:Pomt2	APN	12	87110304	missense	probably damaging	1.00
IGL01688:Pomt2	APN	12	87147520	missense	probably benign
IGL01887:Pomt2	APN	12	87119589	missense	probably damaging	1.00
IGL02120:Pomt2	APN	12	87111552	missense	probably benign	0.07
IGL02233:Pomt2	APN	12	87111411	missense	probably benign	0.00
IGL02305:Pomt2	APN	12	87117929	splice site	probably benign
IGL02516:Pomt2	APN	12	87119646	missense	probably benign	0.00
IGL02616:Pomt2	APN	12	87124862	missense	probably damaging	1.00
IGL03039:Pomt2	APN	12	87110366	missense	probably benign	0.03
IGL03385:Pomt2	APN	12	87116556	missense	probably damaging	1.00
PIT4366001:Pomt2	UTSW	12	87116529	critical splice donor site	probably null
R1055:Pomt2	UTSW	12	87147480	missense	possibly damaging	0.49
R1716:Pomt2	UTSW	12	87124836	missense	probably benign	0.03
R1880:Pomt2	UTSW	12	87135596	missense	probably damaging	1.00
R1881:Pomt2	UTSW	12	87135596	missense	probably damaging	1.00
R2011:Pomt2	UTSW	12	87111399	missense	possibly damaging	0.95
R2443:Pomt2	UTSW	12	87133380	missense	probably damaging	1.00
R2913:Pomt2	UTSW	12	87128969	missense	probably damaging	0.98
R4036:Pomt2	UTSW	12	87111522	critical splice donor site	probably null
R4482:Pomt2	UTSW	12	87131830	missense	probably benign	0.41
R4647:Pomt2	UTSW	12	87118083	missense	possibly damaging	0.49
R4758:Pomt2	UTSW	12	87122878	missense	probably damaging	1.00
R4872:Pomt2	UTSW	12	87110107	missense	possibly damaging	0.89
R5071:Pomt2	UTSW	12	87133460	missense	probably damaging	0.96
R5074:Pomt2	UTSW	12	87133460	missense	probably damaging	0.96
R5132:Pomt2	UTSW	12	87110347	missense	probably damaging	0.98
R5514:Pomt2	UTSW	12	87129023	missense	probably damaging	1.00
R5790:Pomt2	UTSW	12	87127378	missense	probably damaging	1.00
R6128:Pomt2	UTSW	12	87111335	critical splice donor site	probably null
R6370:Pomt2	UTSW	12	87109199	missense	probably damaging	1.00
R6631:Pomt2	UTSW	12	87139643	critical splice donor site	probably null
R6979:Pomt2	UTSW	12	87130351	missense	probably damaging	1.00
R7057:Pomt2	UTSW	12	87127378	missense	probably damaging	0.96
R7114:Pomt2	UTSW	12	87110376	missense	probably damaging	1.00
R7690:Pomt2	UTSW	12	87130367	missense	probably damaging	1.00
R7864:Pomt2	UTSW	12	87122882	missense	probably benign	0.00
R8060:Pomt2	UTSW	12	87129006	missense	probably damaging	1.00
R8695:Pomt2	UTSW	12	87110016	missense	probably benign	0.12
X0026:Pomt2	UTSW	12	87111375	missense	possibly damaging	0.93
Z1177:Pomt2	UTSW	12	87111442	missense	possibly damaging	0.74
Z1177:Pomt2	UTSW	12	87139681	missense	probably damaging	1.00

Posted On

2015-04-16