Mutagenetix > Incidental Mutation

Incidental Mutation 'R4758:Pomt2'

358350

Institutional Source

Beutler Lab

Gene Symbol

Pomt2

Ensembl Gene

ENSMUSG00000034126

Gene Name

protein-O-mannosyltransferase 2

Synonyms

A830009D15Rik

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R4758 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

87153635-87194742 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 87169652 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Aspartic acid at position 406 (V406D)

Ref Sequence

ENSEMBL: ENSMUSP00000152370 (fasta)

Gene Model

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

AlphaFold

Q8BGQ4

Predicted Effect

probably damaging
Transcript: ENSMUST00000037788
AA Change: V476D

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

SMART Domains

Protein: ENSMUSP00000035260
Gene: ENSMUSG00000034126
AA Change: V476D

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 damaging
Transcript: ENSMUST00000222634
AA Change: V406D

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

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.1%
20x: 94.8%

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: 85 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acad9	T	A	3: 36,127,754 (GRCm39)	Y119N	probably damaging	Het
Actn2	T	A	13: 12,303,472 (GRCm39)	K443*	probably null	Het
Adgrb2	A	G	4: 129,903,143 (GRCm39)	N581S	probably damaging	Het
Afg2a	T	A	3: 37,487,385 (GRCm39)	S416T	probably benign	Het
Alb	A	T	5: 90,616,452 (GRCm39)	H319L	probably benign	Het
Aox1	A	G	1: 58,371,741 (GRCm39)	I802V	probably benign	Het
Arhgap45	G	A	10: 79,866,127 (GRCm39)	G995E	probably benign	Het
Capn12	A	C	7: 28,592,148 (GRCm39)	T689P	possibly damaging	Het
Cars1	T	C	7: 143,125,304 (GRCm39)	S312G	probably benign	Het
Cast	T	A	13: 74,887,999 (GRCm39)	D216V	possibly damaging	Het
Ccdc13	C	T	9: 121,662,800 (GRCm39)	E72K	possibly damaging	Het
Cd300lg	G	T	11: 101,944,417 (GRCm39)		probably null	Het
Cep41	A	G	6: 30,671,368 (GRCm39)		probably benign	Het
Chrna3	A	G	9: 54,929,560 (GRCm39)	Y93H	probably damaging	Het
Cic	A	G	7: 24,991,636 (GRCm39)	R1309G	possibly damaging	Het
Clcnkb	A	G	4: 141,135,160 (GRCm39)	V526A	probably benign	Het
Clec4a1	G	T	6: 122,910,825 (GRCm39)	V227F	probably damaging	Het
Cpa5	C	A	6: 30,615,159 (GRCm39)	H99N	possibly damaging	Het
Crem	C	A	18: 3,327,527 (GRCm39)	C4F	probably damaging	Het
Cybb	C	G	X: 9,316,989 (GRCm39)	D246H	probably benign	Het
Decr2	C	A	17: 26,307,914 (GRCm39)	E46D	probably damaging	Het
Dlg1	G	A	16: 31,610,570 (GRCm39)	V284I	possibly damaging	Het
Dnah3	T	C	7: 119,678,629 (GRCm39)	E360G	probably benign	Het
Dnajc1	A	T	2: 18,313,757 (GRCm39)	Y121*	probably null	Het
Dnajc13	A	G	9: 104,049,773 (GRCm39)	F1783L	probably damaging	Het
Eps8l2	T	A	7: 140,940,286 (GRCm39)	D505E	probably damaging	Het
Eral1	G	A	11: 77,966,425 (GRCm39)	T251I	probably benign	Het
Eya3	T	C	4: 132,422,196 (GRCm39)		probably null	Het
Fam120a	G	A	13: 49,034,333 (GRCm39)	T1093I	probably benign	Het
Fbn2	C	T	18: 58,159,458 (GRCm39)	A2424T	probably benign	Het
Git2	G	A	5: 114,868,412 (GRCm39)	T256M	probably damaging	Het
Gm9805	A	T	17: 22,689,871 (GRCm38)	Y34F	probably benign	Het
Itgb7	T	G	15: 102,124,642 (GRCm39)	T792P	probably benign	Het
Jakmip1	T	A	5: 37,285,966 (GRCm39)	I665N	probably damaging	Het
Kcnt2	T	C	1: 140,446,635 (GRCm39)	Y677H	probably damaging	Het
Klhdc4	G	A	8: 122,524,783 (GRCm39)	P382S	probably benign	Het
Knl1	TCC	TC	2: 118,902,213 (GRCm39)		probably null	Het
Lamb3	T	A	1: 193,022,269 (GRCm39)	M1039K	possibly damaging	Het
Lipm	A	T	19: 34,078,570 (GRCm39)	M1L	possibly damaging	Het
Lrrc37	A	G	11: 103,505,290 (GRCm39)	V2226A	possibly damaging	Het
Magi3	T	A	3: 103,922,637 (GRCm39)	D1360V	probably benign	Het
Mier2	C	A	10: 79,386,182 (GRCm39)	C23F	probably damaging	Het
Myo1h	C	T	5: 114,487,643 (GRCm39)	R616C	probably damaging	Het
Nars2	A	G	7: 96,622,735 (GRCm39)	D187G	probably damaging	Het
Nbea	T	C	3: 55,912,824 (GRCm39)	M988V	probably benign	Het
Nlrc5	C	A	8: 95,238,956 (GRCm39)	Q1465K	possibly damaging	Het
Nlrp4e	T	C	7: 23,020,043 (GRCm39)	F177L	probably benign	Het
Oas1a	A	G	5: 121,045,401 (GRCm39)	F47L	probably damaging	Het
Oas1f	A	G	5: 120,985,545 (GRCm39)	E30G	probably damaging	Het
Obscn	A	T	11: 58,894,189 (GRCm39)	M6689K	unknown	Het
Obscn	A	T	11: 59,026,743 (GRCm39)	D153E	probably damaging	Het
Or52s6	A	C	7: 103,092,076 (GRCm39)	C85G	probably damaging	Het
Osmr	A	T	15: 6,882,036 (GRCm39)	I36K	probably benign	Het
Pcf11	A	T	7: 92,310,383 (GRCm39)	F535Y	probably damaging	Het
Pde2a	C	T	7: 101,160,706 (GRCm39)	R886C	probably damaging	Het
Pik3ca	T	A	3: 32,492,127 (GRCm39)	C242S	probably benign	Het
Pikfyve	T	A	1: 65,311,674 (GRCm39)	D1925E	possibly damaging	Het
Plekhm2	A	T	4: 141,369,316 (GRCm39)	Y123N	possibly damaging	Het
Ppfia2	G	C	10: 106,597,978 (GRCm39)	L180F	probably damaging	Het
Prdm10	A	T	9: 31,273,708 (GRCm39)	T985S	probably benign	Het
Proc	T	A	18: 32,256,863 (GRCm39)	Y268F	probably damaging	Het
Prrc1	C	T	18: 57,517,320 (GRCm39)	T365M	probably damaging	Het
Rasa1	A	T	13: 85,382,567 (GRCm39)	D446E	probably benign	Het
Ribc2	T	A	15: 85,025,867 (GRCm39)	L281Q	probably damaging	Het
Runx1t1	A	G	4: 13,865,907 (GRCm39)	D385G	probably damaging	Het
Sdk2	A	G	11: 113,717,880 (GRCm39)	S1495P	possibly damaging	Het
Slc15a3	G	T	19: 10,831,726 (GRCm39)		probably null	Het
Slc43a3	A	G	2: 84,774,869 (GRCm39)	N149S	probably damaging	Het
Specc1l	A	G	10: 75,082,182 (GRCm39)	Q543R	probably damaging	Het
Spef1	T	C	2: 131,014,661 (GRCm39)		probably null	Het
Spns1	A	T	7: 125,969,966 (GRCm39)	F478Y	probably damaging	Het
Srebf2	T	C	15: 82,080,370 (GRCm39)	V821A	probably benign	Het
Stac3	A	G	10: 127,339,214 (GRCm39)	M108V	possibly damaging	Het
Stradb	A	G	1: 59,027,730 (GRCm39)	T87A	probably benign	Het
Stxbp5l	A	T	16: 36,954,592 (GRCm39)	M906K	probably benign	Het
Tex14	T	C	11: 87,405,311 (GRCm39)	V741A	probably benign	Het
Thoc2l	A	C	5: 104,668,265 (GRCm39)	E929A	possibly damaging	Het
Tpo	C	A	12: 30,125,870 (GRCm39)	G830C	probably damaging	Het
Unc79	T	A	12: 103,128,080 (GRCm39)	C2308*	probably null	Het
Vmn1r205	T	C	13: 22,777,016 (GRCm39)	T29A	possibly damaging	Het
Vmn1r69	G	A	7: 10,314,473 (GRCm39)	T7I	probably benign	Het
Vmn2r27	T	G	6: 124,208,596 (GRCm39)	T50P	possibly damaging	Het
Wdr83	A	G	8: 85,801,867 (GRCm39)	Y302H	probably benign	Het
Xirp2	A	T	2: 67,346,879 (GRCm39)	E3040V	probably damaging	Het
Zfp629	C	A	7: 127,209,758 (GRCm39)	G684W	probably damaging	Het

Other mutations in Pomt2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00495:Pomt2	APN	12	87,171,630 (GRCm39)	missense	probably damaging	1.00
IGL00508:Pomt2	APN	12	87,166,401 (GRCm39)	missense	probably damaging	1.00
IGL01069:Pomt2	APN	12	87,157,078 (GRCm39)	missense	probably damaging	1.00
IGL01688:Pomt2	APN	12	87,194,294 (GRCm39)	missense	probably benign
IGL01887:Pomt2	APN	12	87,166,363 (GRCm39)	missense	probably damaging	1.00
IGL02120:Pomt2	APN	12	87,158,326 (GRCm39)	missense	probably benign	0.07
IGL02233:Pomt2	APN	12	87,158,185 (GRCm39)	missense	probably benign	0.00
IGL02305:Pomt2	APN	12	87,164,703 (GRCm39)	splice site	probably benign
IGL02372:Pomt2	APN	12	87,169,609 (GRCm39)	splice site	probably benign
IGL02516:Pomt2	APN	12	87,166,420 (GRCm39)	missense	probably benign	0.00
IGL02616:Pomt2	APN	12	87,171,636 (GRCm39)	missense	probably damaging	1.00
IGL03039:Pomt2	APN	12	87,157,140 (GRCm39)	missense	probably benign	0.03
IGL03385:Pomt2	APN	12	87,163,330 (GRCm39)	missense	probably damaging	1.00
PIT4366001:Pomt2	UTSW	12	87,163,303 (GRCm39)	critical splice donor site	probably null
R1055:Pomt2	UTSW	12	87,194,254 (GRCm39)	missense	possibly damaging	0.49
R1716:Pomt2	UTSW	12	87,171,610 (GRCm39)	missense	probably benign	0.03
R1880:Pomt2	UTSW	12	87,182,370 (GRCm39)	missense	probably damaging	1.00
R1881:Pomt2	UTSW	12	87,182,370 (GRCm39)	missense	probably damaging	1.00
R2011:Pomt2	UTSW	12	87,158,173 (GRCm39)	missense	possibly damaging	0.95
R2443:Pomt2	UTSW	12	87,180,154 (GRCm39)	missense	probably damaging	1.00
R2913:Pomt2	UTSW	12	87,175,743 (GRCm39)	missense	probably damaging	0.98
R4036:Pomt2	UTSW	12	87,158,296 (GRCm39)	critical splice donor site	probably null
R4482:Pomt2	UTSW	12	87,178,604 (GRCm39)	missense	probably benign	0.41
R4647:Pomt2	UTSW	12	87,164,857 (GRCm39)	missense	possibly damaging	0.49
R4872:Pomt2	UTSW	12	87,156,881 (GRCm39)	missense	possibly damaging	0.89
R5071:Pomt2	UTSW	12	87,180,234 (GRCm39)	missense	probably damaging	0.96
R5074:Pomt2	UTSW	12	87,180,234 (GRCm39)	missense	probably damaging	0.96
R5132:Pomt2	UTSW	12	87,157,121 (GRCm39)	missense	probably damaging	0.98
R5514:Pomt2	UTSW	12	87,175,797 (GRCm39)	missense	probably damaging	1.00
R5790:Pomt2	UTSW	12	87,174,152 (GRCm39)	missense	probably damaging	1.00
R6128:Pomt2	UTSW	12	87,158,109 (GRCm39)	critical splice donor site	probably null
R6370:Pomt2	UTSW	12	87,155,973 (GRCm39)	missense	probably damaging	1.00
R6631:Pomt2	UTSW	12	87,186,417 (GRCm39)	critical splice donor site	probably null
R6979:Pomt2	UTSW	12	87,177,125 (GRCm39)	missense	probably damaging	1.00
R7057:Pomt2	UTSW	12	87,174,152 (GRCm39)	missense	probably damaging	0.96
R7114:Pomt2	UTSW	12	87,157,150 (GRCm39)	missense	probably damaging	1.00
R7690:Pomt2	UTSW	12	87,177,141 (GRCm39)	missense	probably damaging	1.00
R7864:Pomt2	UTSW	12	87,169,656 (GRCm39)	missense	probably benign	0.00
R8060:Pomt2	UTSW	12	87,175,780 (GRCm39)	missense	probably damaging	1.00
R8695:Pomt2	UTSW	12	87,156,790 (GRCm39)	missense	probably benign	0.12
R8851:Pomt2	UTSW	12	87,184,838 (GRCm39)	missense	probably damaging	0.99
R9176:Pomt2	UTSW	12	87,194,451 (GRCm39)	intron	probably benign
R9407:Pomt2	UTSW	12	87,157,146 (GRCm39)	missense	probably damaging	1.00
R9509:Pomt2	UTSW	12	87,184,802 (GRCm39)	missense	possibly damaging	0.48
X0026:Pomt2	UTSW	12	87,158,149 (GRCm39)	missense	possibly damaging	0.93
Z1177:Pomt2	UTSW	12	87,186,455 (GRCm39)	missense	probably damaging	1.00
Z1177:Pomt2	UTSW	12	87,158,216 (GRCm39)	missense	possibly damaging	0.74

Predicted Primers

PCR Primer
(F):5'- TGAGGCTACTCTCTAGGAATCC -3'
(R):5'- ATGTGACAGATTTCCCTACCC -3'

Sequencing Primer
(F):5'- TATGGACCTGGCCACTGTC -3'
(R):5'- GTGACAGATTTCCCTACCCCTATAAC -3'

Posted On

2015-11-11