Mutagenetix > Incidental Mutation

Incidental Mutation 'R1716:Pomt2'

191048

Institutional Source

Beutler Lab

Gene Symbol

Pomt2

Ensembl Gene

ENSMUSG00000034126

Gene Name

protein-O-mannosyltransferase 2

Synonyms

A830009D15Rik

MMRRC Submission

039749-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R1716 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

87153635-87194742 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 87171610 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 457 (I457V)

Ref Sequence

ENSEMBL: ENSMUSP00000035260 (fasta)

Gene Model

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

AlphaFold

Q8BGQ4

Predicted Effect

probably benign
Transcript: ENSMUST00000037788
AA Change: I457V

PolyPhen 2 Score 0.034 (Sensitivity: 0.95; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000035260
Gene: ENSMUSG00000034126
AA Change: I457V

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
AA Change: I387V

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)

Coding Region Coverage

1x: 99.2%
3x: 98.4%
10x: 96.6%
20x: 93.5%

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: 90 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acan	A	G	7: 78,731,946 (GRCm39)	T2A	unknown	Het
Adgrf3	T	A	5: 30,402,549 (GRCm39)	Q493L	probably benign	Het
Ak6	T	C	13: 100,792,177 (GRCm39)	S207P	probably benign	Het
Ang	A	G	14: 51,338,937 (GRCm39)	D26G	probably benign	Het
Ang	T	C	14: 51,338,957 (GRCm39)	F33L	probably damaging	Het
Arhgef38	T	A	3: 132,846,598 (GRCm39)	Y389F	probably benign	Het
Arhgef7	C	A	8: 11,858,713 (GRCm39)		probably null	Het
Bicd2	C	A	13: 49,531,786 (GRCm39)	H343N	probably benign	Het
Casp4	G	A	9: 5,308,919 (GRCm39)		probably null	Het
Cd22	A	G	7: 30,577,103 (GRCm39)	F68S	probably damaging	Het
Cd46	T	A	1: 194,760,117 (GRCm39)	Q245L	probably benign	Het
Cntnap2	A	T	6: 47,084,826 (GRCm39)	R1096*	probably null	Het
Cntnap3	A	G	13: 64,909,816 (GRCm39)	V763A	probably damaging	Het
Cyp3a11	T	C	5: 145,805,776 (GRCm39)	T171A	probably benign	Het
Defa30	A	G	8: 21,625,431 (GRCm39)	Y65C	probably damaging	Het
Defb18	A	T	1: 18,306,875 (GRCm39)	M27K	probably benign	Het
Dnah17	A	G	11: 117,923,424 (GRCm39)	S4071P	probably benign	Het
Dnah7b	T	A	1: 46,230,943 (GRCm39)	D1400E	probably damaging	Het
Dpysl5	C	T	5: 30,935,338 (GRCm39)	T147I	probably benign	Het
Dsg4	C	T	18: 20,595,518 (GRCm39)	R574*	probably null	Het
Entrep2	A	T	7: 64,426,633 (GRCm39)		probably null	Het
Epm2a	A	G	10: 11,324,580 (GRCm39)	E223G	probably benign	Het
Etl4	T	C	2: 20,748,492 (GRCm39)	S75P	probably damaging	Het
Fbxw15	T	A	9: 109,386,204 (GRCm39)	M312L	probably benign	Het
Fcgr4	C	T	1: 170,847,672 (GRCm39)	T90I	probably damaging	Het
Fras1	T	A	5: 96,700,584 (GRCm39)	D201E	probably benign	Het
Gadl1	A	T	9: 115,835,576 (GRCm39)	K335*	probably null	Het
Gcsam	T	G	16: 45,440,356 (GRCm39)	V133G	probably damaging	Het
Gml	G	T	15: 74,685,665 (GRCm39)	L107I	possibly damaging	Het
Golga2	T	A	2: 32,192,909 (GRCm39)	L409Q	probably damaging	Het
Gtf2a1l	A	T	17: 89,002,008 (GRCm39)	Q241L	probably benign	Het
Gtf3c3	A	G	1: 54,438,419 (GRCm39)	Y799H	probably damaging	Het
Guca1b	T	G	17: 47,702,126 (GRCm39)		probably benign	Het
Igdcc4	C	A	9: 65,034,179 (GRCm39)	H617Q	probably damaging	Het
Ip6k1	G	A	9: 107,918,195 (GRCm39)	E77K	possibly damaging	Het
Itga2b	A	C	11: 102,351,603 (GRCm39)	I574S	probably benign	Het
Kcnk7	A	T	19: 5,756,859 (GRCm39)	I283F	probably damaging	Het
Kirrel3	T	A	9: 34,934,843 (GRCm39)	L450M	probably damaging	Het
Lmntd1	A	T	6: 145,365,600 (GRCm39)	S176R	probably damaging	Het
Lrrc39	C	T	3: 116,373,216 (GRCm39)	T292I	probably benign	Het
Ltbp1	A	T	17: 75,622,019 (GRCm39)	H801L	probably benign	Het
Macf1	T	A	4: 123,295,196 (GRCm39)	Q3318L	probably damaging	Het
Man1b1	T	A	2: 25,235,032 (GRCm39)	N282K	probably benign	Het
Map2k6	A	T	11: 110,388,727 (GRCm39)	E223V	probably damaging	Het
Marf1	C	A	16: 13,960,450 (GRCm39)	R531S	possibly damaging	Het
Mfge8	G	A	7: 78,792,191 (GRCm39)	R245C	probably damaging	Het
Mogat1	T	G	1: 78,514,681 (GRCm39)	N318K	probably benign	Het
Myh4	T	A	11: 67,141,135 (GRCm39)	S732R	possibly damaging	Het
Myt1l	T	A	12: 29,861,537 (GRCm39)	D106E	unknown	Het
Ndc1	T	C	4: 107,241,992 (GRCm39)	F302L	probably damaging	Het
Ndrg4	C	T	8: 96,438,956 (GRCm39)	A290V	probably benign	Het
Nfia	A	T	4: 97,951,365 (GRCm39)	K397N	probably damaging	Het
Nlrp4e	A	T	7: 23,020,458 (GRCm39)	Q315L	possibly damaging	Het
Oga	C	A	19: 45,740,613 (GRCm39)	K907N	probably benign	Het
Or10p22	A	C	10: 128,826,721 (GRCm39)	*313C	probably null	Het
Or1ad8	T	A	11: 50,898,679 (GRCm39)	N293K	probably damaging	Het
Peg3	T	C	7: 6,710,780 (GRCm39)	I1481V	possibly damaging	Het
Phldb2	C	T	16: 45,595,413 (GRCm39)	G883D	probably benign	Het
Pik3c2b	T	A	1: 133,022,564 (GRCm39)	Y1169N	probably damaging	Het
Plcl1	A	T	1: 55,734,997 (GRCm39)	I113F	probably damaging	Het
Ppil1	T	C	17: 29,480,809 (GRCm39)	N38S	possibly damaging	Het
Prf1	A	G	10: 61,136,231 (GRCm39)	N169S	probably benign	Het
Prmt8	A	C	6: 127,703,486 (GRCm39)		probably null	Het
Ptprg	T	A	14: 12,154,360 (GRCm38)	S694T	probably benign	Het
Rab12	A	T	17: 66,807,315 (GRCm39)	M138K	possibly damaging	Het
Reln	T	C	5: 22,160,093 (GRCm39)	T2159A	probably damaging	Het
Retsat	A	T	6: 72,583,063 (GRCm39)	Y36F	probably damaging	Het
Rgs14	A	T	13: 55,526,696 (GRCm39)	Q116L	probably damaging	Het
Rlbp1	A	T	7: 79,025,684 (GRCm39)	N252K	probably damaging	Het
Rtraf	A	G	14: 19,862,242 (GRCm39)	L215P	probably damaging	Het
Sec1	A	T	7: 45,328,789 (GRCm39)	M86K	probably benign	Het
Sec24b	A	T	3: 129,834,665 (GRCm39)	S42T	possibly damaging	Het
Serpinb9d	T	C	13: 33,380,500 (GRCm39)	S129P	probably damaging	Het
Slc35f5	T	G	1: 125,512,269 (GRCm39)	D356E	possibly damaging	Het
Smpd4	T	C	16: 17,460,365 (GRCm39)	S694P	probably damaging	Het
Spag6	G	T	2: 18,750,420 (GRCm39)		probably null	Het
Spata31d1c	T	C	13: 65,181,030 (GRCm39)	I43T	possibly damaging	Het
Ssh1	T	C	5: 114,090,081 (GRCm39)	D314G	possibly damaging	Het
Tnfrsf17	G	A	16: 11,137,595 (GRCm39)	D111N	probably benign	Het
Ttn	A	G	2: 76,553,635 (GRCm39)	I30994T	probably damaging	Het
Ttn	A	T	2: 76,614,320 (GRCm39)	F8737L	probably damaging	Het
Ush1c	G	T	7: 45,845,152 (GRCm39)	F890L	probably benign	Het
Usp36	C	T	11: 118,162,957 (GRCm39)		probably null	Het
Vmn2r115	T	C	17: 23,566,795 (GRCm39)	Y436H	probably benign	Het
Vmn2r94	T	A	17: 18,477,635 (GRCm39)	M259L	probably benign	Het
Wwp1	T	C	4: 19,659,698 (GRCm39)	T197A	probably benign	Het
Zbtb37	T	A	1: 160,847,814 (GRCm39)	M398L	probably benign	Het
Zfp804b	C	T	5: 6,819,673 (GRCm39)	C1130Y	probably benign	Het
Zfp9	A	G	6: 118,441,712 (GRCm39)	C317R	probably damaging	Het
Zscan20	T	C	4: 128,480,334 (GRCm39)	H719R	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
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'- TCAGTGATGTTCCAAAGGATGCCAG -3'
(R):5'- AGCAGTTCTTAAAGGGTAGGGCCTC -3'

Sequencing Primer
(F):5'- TTCCAAAGGATGCCAGAGGTC -3'
(R):5'- TCTGAGTCCCACTGGGAAATG -3'

Posted On

2014-05-14