Mutagenetix > Incidental Mutation

Incidental Mutation 'R5074:Pomt2'

386867

Institutional Source

Beutler Lab

Gene Symbol

Pomt2

Ensembl Gene

ENSMUSG00000034126

Gene Name

protein-O-mannosyltransferase 2

Synonyms

A830009D15Rik

MMRRC Submission

042663-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R5074 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

87153635-87194742 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 87180234 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Glycine at position 256 (C256G)

Ref Sequence

ENSEMBL: ENSMUSP00000035260 (fasta)

Gene Model

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

AlphaFold

Q8BGQ4

Predicted Effect

probably damaging
Transcript: ENSMUST00000037788
AA Change: C256G

PolyPhen 2 Score 0.957 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000035260
Gene: ENSMUSG00000034126
AA Change: C256G

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: ENSMUST00000222147

Predicted Effect

possibly damaging
Transcript: ENSMUST00000222634
AA Change: C186G

PolyPhen 2 Score 0.860 (Sensitivity: 0.83; Specificity: 0.93)

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.0%
20x: 94.2%

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: 115 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700006A11Rik	A	T	3: 124,210,482 (GRCm39)	H143Q	probably benign	Het
Abca3	C	T	17: 24,593,274 (GRCm39)	R224C	probably damaging	Het
Adcy8	A	T	15: 64,659,207 (GRCm39)	W528R	probably damaging	Het
Agbl1	A	G	7: 76,071,665 (GRCm39)	E329G	probably damaging	Het
Agbl5	G	A	5: 31,060,403 (GRCm39)	R141Q	probably damaging	Het
Ampd2	A	T	3: 107,986,549 (GRCm39)	M245K	probably damaging	Het
Apob	G	A	12: 8,055,219 (GRCm39)		probably null	Het
Apool	C	T	X: 111,259,540 (GRCm39)	Q60*	probably null	Het
Aqp1	A	T	6: 55,322,520 (GRCm39)	I172F	probably damaging	Het
Atp7a	A	G	X: 105,153,374 (GRCm39)	D1092G	probably benign	Het
Ccdc83	A	T	7: 89,899,737 (GRCm39)	F45Y	probably damaging	Het
Cct8l1	G	A	5: 25,721,881 (GRCm39)	V199I	probably benign	Het
Cdc23	C	A	18: 34,784,742 (GRCm39)	V7L	unknown	Het
Cdc25a	T	A	9: 109,713,208 (GRCm39)	C227S	possibly damaging	Het
Ces1a	A	G	8: 93,759,303 (GRCm39)	S278P	possibly damaging	Het
Cfap65	A	T	1: 74,962,137 (GRCm39)	S695T	probably benign	Het
Col13a1	A	G	10: 61,709,797 (GRCm39)		silent	Het
Ctps1	A	T	4: 120,411,170 (GRCm39)	L282Q	probably damaging	Het
Cyp2a22	A	T	7: 26,631,906 (GRCm39)	F450Y	probably benign	Het
Cyp2d10	C	T	15: 82,287,954 (GRCm39)	R383H	probably benign	Het
Dennd3	G	A	15: 73,419,144 (GRCm39)	R645H	probably damaging	Het
Dnaaf5	G	T	5: 139,159,962 (GRCm39)	R620L	probably damaging	Het
Dnah11	A	T	12: 118,046,188 (GRCm39)	L1750*	probably null	Het
Dnah9	A	G	11: 65,740,866 (GRCm39)	F4107L	probably damaging	Het
Dnaja3	A	T	16: 4,514,289 (GRCm39)	T274S	probably damaging	Het
Dot1l	A	G	10: 80,620,480 (GRCm39)	D514G	possibly damaging	Het
Dst	A	C	1: 34,334,344 (GRCm39)	K4857N	probably damaging	Het
Dysf	A	T	6: 84,114,254 (GRCm39)	K1226M	probably damaging	Het
Enpep	T	A	3: 129,097,404 (GRCm39)	Q409L	probably damaging	Het
Fign	A	T	2: 63,810,037 (GRCm39)	L411*	probably null	Het
Flt1	C	A	5: 147,620,749 (GRCm39)	A132S	probably benign	Het
Fryl	G	A	5: 73,232,110 (GRCm39)	P1550L	probably damaging	Het
Gas2l3	CACTCGTCATACT	CACT	10: 89,266,820 (GRCm39)		probably benign	Het
H2ab3	T	C	X: 119,222,543 (GRCm39)	T84A	probably damaging	Het
Hal	A	T	10: 93,349,904 (GRCm39)	I555F	probably damaging	Het
Hibadh	C	T	6: 52,597,079 (GRCm39)	V122M	possibly damaging	Het
Hsd3b3	T	C	3: 98,649,340 (GRCm39)	T328A	possibly damaging	Het
Ifi44	T	C	3: 151,455,269 (GRCm39)		probably benign	Het
Ifi47	A	G	11: 48,986,361 (GRCm39)	T43A	probably benign	Het
Inf2	A	T	12: 112,578,473 (GRCm39)		probably null	Het
Itga10	C	T	3: 96,559,527 (GRCm39)	Q475*	probably null	Het
Itga6	T	A	2: 71,656,779 (GRCm39)	D344E	probably benign	Het
Kcnmb4	T	C	10: 116,309,102 (GRCm39)	T109A	probably benign	Het
Kif19a	G	A	11: 114,658,053 (GRCm39)	M37I	probably benign	Het
Kiss1r	C	A	10: 79,754,596 (GRCm39)	S30*	probably null	Het
Lrrc66	G	A	5: 73,765,354 (GRCm39)	P563L	probably damaging	Het
Mamdc2	T	C	19: 23,356,160 (GRCm39)	D96G	probably benign	Het
Map3k12	A	T	15: 102,410,267 (GRCm39)		probably null	Het
Mc3r	A	T	2: 172,091,533 (GRCm39)	I252F	possibly damaging	Het
Metrn	C	T	17: 26,015,613 (GRCm39)	G34D	probably damaging	Het
Mipep	A	G	14: 61,046,462 (GRCm39)	E328G	probably benign	Het
Mrtfa	A	G	15: 80,906,627 (GRCm39)	V91A	probably damaging	Het
Muc5b	A	T	7: 141,412,999 (GRCm39)	T1982S	unknown	Het
Myh8	A	T	11: 67,196,742 (GRCm39)	T1792S	possibly damaging	Het
Myo1a	T	C	10: 127,543,288 (GRCm39)		probably null	Het
Myo5a	T	A	9: 75,081,438 (GRCm39)	S1008T	probably benign	Het
Ncald	A	T	15: 37,397,478 (GRCm39)	H67Q	probably damaging	Het
Nudt5	T	A	2: 5,869,198 (GRCm39)	H141Q	probably benign	Het
Numbl	G	A	7: 26,980,415 (GRCm39)	D466N	probably damaging	Het
Nup210	T	A	6: 91,032,309 (GRCm39)	I20F	probably benign	Het
Odad1	T	A	7: 45,578,514 (GRCm39)	M29K	probably benign	Het
Or10ak12	A	C	4: 118,666,057 (GRCm39)	W319G	possibly damaging	Het
Or10p21	T	C	10: 128,847,213 (GRCm39)	Y20H	possibly damaging	Het
Or14c46	A	G	7: 85,918,799 (GRCm39)	I66T	probably damaging	Het
Or51l14	A	T	7: 103,100,617 (GRCm39)	E24D	probably benign	Het
Or52e8b	A	T	7: 104,673,260 (GRCm39)	M309K	probably benign	Het
Or52n2c	A	C	7: 104,574,700 (GRCm39)	N90K	probably benign	Het
Or7h8	A	T	9: 20,123,878 (GRCm39)	I78F	possibly damaging	Het
Or8h10	A	T	2: 86,808,666 (GRCm39)	V158D	possibly damaging	Het
Papolg	G	A	11: 23,817,331 (GRCm39)	T153I	possibly damaging	Het
Pappa	A	G	4: 65,123,365 (GRCm39)	H900R	probably benign	Het
Pcdh17	T	C	14: 84,770,782 (GRCm39)	S1087P	probably benign	Het
Phf11a	T	G	14: 59,521,849 (GRCm39)	L107F	possibly damaging	Het
Phlpp2	A	T	8: 110,652,461 (GRCm39)	I602F	probably damaging	Het
Pik3c2g	T	A	6: 139,665,873 (GRCm39)	C65S	probably null	Het
Pilra	A	G	5: 137,833,674 (GRCm39)	F131L	probably damaging	Het
Ppl	A	T	16: 4,906,742 (GRCm39)	S1184R	probably benign	Het
Prkaa1	G	T	15: 5,206,392 (GRCm39)	R416L	possibly damaging	Het
Prkdc	C	A	16: 15,589,912 (GRCm39)	R2592S	probably damaging	Het
Prmt2	C	T	10: 76,058,390 (GRCm39)	V140I	probably damaging	Het
Prodh	A	T	16: 17,895,653 (GRCm39)		probably null	Het
Psg29	T	A	7: 16,945,763 (GRCm39)	D444E	probably damaging	Het
Ptgs1	A	T	2: 36,141,272 (GRCm39)	N573I	probably damaging	Het
Rbm38	C	T	2: 172,863,875 (GRCm39)	P15S	probably benign	Het
Riox2	T	C	16: 59,312,236 (GRCm39)	S458P	possibly damaging	Het
Rnase4	T	C	14: 51,342,702 (GRCm39)	V142A	possibly damaging	Het
Rnf138	A	G	18: 21,159,204 (GRCm39)	N244S	probably benign	Het
Rnf40	T	C	7: 127,196,458 (GRCm39)	L802P	probably damaging	Het
Sfxn4	C	T	19: 60,839,450 (GRCm39)	V203M	probably damaging	Het
Skor2	G	T	18: 76,946,649 (GRCm39)	E124*	probably null	Het
Slc4a2	G	A	5: 24,643,760 (GRCm39)	S855N	probably benign	Het
Slc8a2	T	C	7: 15,884,508 (GRCm39)	L626P	possibly damaging	Het
Slco4c1	G	A	1: 96,768,953 (GRCm39)	P303L	probably damaging	Het
Slirp	A	G	12: 87,490,784 (GRCm39)	T29A	probably damaging	Het
Snrpd3	G	T	10: 75,355,227 (GRCm39)	C20F	possibly damaging	Het
Spag17	T	A	3: 99,987,434 (GRCm39)	Y1575N	possibly damaging	Het
St8sia4	G	A	1: 95,594,910 (GRCm39)	A26V	probably benign	Het
Stab2	A	T	10: 86,699,422 (GRCm39)	I481N	probably benign	Het
Tenm2	T	A	11: 35,959,208 (GRCm39)	T1114S	probably damaging	Het
Tgm1	A	G	14: 55,947,392 (GRCm39)	V323A	probably damaging	Het
Tmco4	A	G	4: 138,785,433 (GRCm39)	H501R	probably damaging	Het
Tob1	A	T	11: 94,104,567 (GRCm39)	R34S	possibly damaging	Het
Trhr2	C	T	8: 123,084,110 (GRCm39)	V297I	probably benign	Het
Trim30d	A	C	7: 104,137,165 (GRCm39)	V13G	probably damaging	Het
Trpm3	T	C	19: 22,862,713 (GRCm39)	V485A	possibly damaging	Het
Trrap	T	C	5: 144,787,989 (GRCm39)	I3518T	probably damaging	Het
Ttc27	T	C	17: 75,054,750 (GRCm39)	L352P	probably damaging	Het
Ush1g	A	G	11: 115,209,123 (GRCm39)	L357P	possibly damaging	Het
Usp24	A	G	4: 106,277,644 (GRCm39)	H2258R	probably benign	Het
Vcam1	A	G	3: 115,918,037 (GRCm39)	V308A	probably damaging	Het
Vdr	A	G	15: 97,755,459 (GRCm39)	S355P	probably benign	Het
Vldlr	T	C	19: 27,215,677 (GRCm39)	S184P	probably damaging	Het
Xpo4	C	A	14: 57,822,098 (GRCm39)	A1073S	probably benign	Het
Zfand2b	A	G	1: 75,147,634 (GRCm39)	D224G	probably benign	Het
Zfp263	A	G	16: 3,564,704 (GRCm39)	R240G	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
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
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
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'- AATCAAACTTCTGGGGCTGC -3'
(R):5'- TTGGGACTGAGGACCTACAG -3'

Sequencing Primer
(F):5'- AACTTCTGGGGCTGCCATGG -3'
(R):5'- CCTACAGGTAGCATGGGTATACTTC -3'

Posted On

2016-06-06