Mutagenetix > Incidental Mutation

Incidental Mutation 'PIT4366001:Pomt2'

554782

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 #

PIT4366001 (G1)

Quality Score

103.008

Status

Not validated

Chromosome

Chromosomal Location

87153635-87194742 bp(-) (GRCm39)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

A to T at 87163303 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000035260 (fasta)

Gene Model

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

AlphaFold

Q8BGQ4

Predicted Effect

probably null
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

probably benign
Transcript: ENSMUST00000222634

Coding Region Coverage

1x: 93.0%
3x: 90.7%
10x: 85.5%
20x: 73.8%

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: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aatk	C	A	11: 119,901,786 (GRCm39)	S870I	possibly damaging	Het
Abca13	T	C	11: 9,244,962 (GRCm39)	V2275A	probably benign	Het
Abcb5	T	C	12: 118,899,833 (GRCm39)	K278R	probably damaging	Het
Adcy2	TA	TAA	13: 68,858,109 (GRCm39)		probably benign	Het
Add3	C	T	19: 53,205,298 (GRCm39)	P16L	unknown	Het
Akap9	T	A	5: 4,096,221 (GRCm39)	D2365E	probably benign	Het
Asah1	A	G	8: 41,796,783 (GRCm39)	S300P	possibly damaging	Het
Astn1	A	T	1: 158,424,779 (GRCm39)	H655L	probably benign	Het
Astn1	A	T	1: 158,424,781 (GRCm39)	I656F	probably benign	Het
Bmpr1b	T	A	3: 141,586,224 (GRCm39)	T13S	probably benign	Het
Camsap2	A	G	1: 136,208,055 (GRCm39)	F478L		Het
Card10	G	A	15: 78,671,631 (GRCm39)	S611L	probably benign	Het
Cep68	T	C	11: 20,190,007 (GRCm39)	N335S	probably benign	Het
Chac1	T	C	2: 119,181,986 (GRCm39)	W35R	probably damaging	Het
Cntn6	T	C	6: 104,809,498 (GRCm39)	V511A	probably benign	Het
Cpne9	G	T	6: 113,271,707 (GRCm39)	G356W	probably damaging	Het
Dnah10	C	A	5: 124,852,588 (GRCm39)	T1939K	possibly damaging	Het
Dock10	T	C	1: 80,573,438 (GRCm39)	N239D	probably benign	Het
Dock5	T	C	14: 68,062,123 (GRCm39)	K415R	possibly damaging	Het
Dtd2	C	A	12: 52,046,582 (GRCm39)	D86Y	probably damaging	Het
Efcab9	A	G	11: 32,473,608 (GRCm39)	F127S	probably damaging	Het
Ermp1	T	C	19: 29,606,189 (GRCm39)	H375R	probably benign	Het
Frem2	A	T	3: 53,560,622 (GRCm39)	M1295K	probably damaging	Het
Gbp7	T	G	3: 142,248,712 (GRCm39)	I325R	probably benign	Het
Gpr179	T	C	11: 97,227,677 (GRCm39)	K1493E	probably benign	Het
Gucy2g	T	A	19: 55,226,214 (GRCm39)	E234V	probably null	Het
Itpr1	T	A	6: 108,470,718 (GRCm39)	C2215*	probably null	Het
Ltn1	G	A	16: 87,177,728 (GRCm39)	R1634*	probably null	Het
Lynx1	A	T	15: 74,623,258 (GRCm39)	M58K	possibly damaging	Het
Macc1	T	C	12: 119,410,684 (GRCm39)	V484A	probably benign	Het
Map3k9	C	T	12: 81,819,535 (GRCm39)	V240M	possibly damaging	Het
Mars1	A	G	10: 127,135,267 (GRCm39)	M608T	possibly damaging	Het
Mc2r	T	C	18: 68,540,826 (GRCm39)	M156V	probably benign	Het
Mchr1	G	T	15: 81,121,417 (GRCm39)	V56L	probably benign	Het
Mlxip	C	T	5: 123,533,173 (GRCm39)	P61S	probably benign	Het
Mtarc1	A	G	1: 184,539,383 (GRCm39)	F96S	probably benign	Het
Muc4	A	G	16: 32,575,542 (GRCm39)	T1557A	unknown	Het
Myt1	T	C	2: 181,467,731 (GRCm39)	V1135A	probably damaging	Het
Ndufaf6	A	T	4: 11,073,215 (GRCm39)	S76T	probably benign	Het
Ntrk2	A	G	13: 59,208,149 (GRCm39)	Y665C	probably damaging	Het
Oaz3	T	G	3: 94,340,901 (GRCm39)	R215S	unknown	Het
Or10x1	T	C	1: 174,196,656 (GRCm39)	Y58H	probably damaging	Het
Or5m10b	T	C	2: 85,699,226 (GRCm39)	C97R	probably damaging	Het
Or5m8	A	T	2: 85,822,385 (GRCm39)	N75Y	probably damaging	Het
Or5w1b	C	T	2: 87,475,534 (GRCm39)	W311*	probably null	Het
Perm1	G	T	4: 156,303,192 (GRCm39)	V579L	probably benign	Het
Phyhipl	A	G	10: 70,404,788 (GRCm39)	V140A	probably benign	Het
Pip5k1c	T	A	10: 81,144,842 (GRCm39)	S228T	probably damaging	Het
Plekhn1	T	G	4: 156,309,268 (GRCm39)	T213P	probably damaging	Het
Ptcd1	A	G	5: 145,088,145 (GRCm39)	V622A	probably benign	Het
Ptn	T	A	6: 36,718,284 (GRCm39)	H127L	probably benign	Het
Ptprk	A	T	10: 28,462,015 (GRCm39)	M1193L	probably benign	Het
Ptpru	G	A	4: 131,527,023 (GRCm39)	P650S	probably benign	Het
Pum2	T	A	12: 8,783,390 (GRCm39)	L613Q	probably damaging	Het
Rapgef6	A	G	11: 54,582,446 (GRCm39)	T1458A	probably damaging	Het
Sap130	C	T	18: 31,810,462 (GRCm39)	A470V	probably benign	Het
Sertad2	C	A	11: 20,598,116 (GRCm39)	P104Q	probably benign	Het
Sfrp4	A	T	13: 19,814,414 (GRCm39)	M324L	unknown	Het
Sh3bp4	A	G	1: 89,073,156 (GRCm39)	N668S	probably benign	Het
Snx30	C	A	4: 59,894,653 (GRCm39)	D410E	probably benign	Het
Spata31	C	A	13: 65,069,319 (GRCm39)	S489*	probably null	Het
Taok3	T	A	5: 117,366,050 (GRCm39)	M367K	probably benign	Het
Tfap2a	T	C	13: 40,874,850 (GRCm39)	N254D	possibly damaging	Het
Tgtp1	T	G	11: 48,877,867 (GRCm39)	L279F	possibly damaging	Het
Tmpo	A	G	10: 90,999,172 (GRCm39)	F205S	probably damaging	Het
Tmprss5	A	T	9: 49,023,517 (GRCm39)	I218L	probably benign	Het
Tti2	A	G	8: 31,641,224 (GRCm39)	E116G	probably benign	Het
Vmn2r59	A	T	7: 41,695,205 (GRCm39)	N402K	possibly 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
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
R4758:Pomt2	UTSW	12	87,169,652 (GRCm39)	missense	probably damaging	1.00
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'- ATCCTGTGATCCCGGAAATCC -3'
(R):5'- CTAAGCCTCATGAATGACCCTC -3'

Sequencing Primer
(F):5'- TGTGATCCCGGAAATCCTCATAAAG -3'
(R):5'- CTCTGCTCAGCTTGATAGGGAGAC -3'

Posted On

2019-06-07