Mutagenetix > Incidental Mutation

Incidental Mutation 'R2011:Pomt2'

219768

Institutional Source

Beutler Lab

Gene Symbol

Pomt2

Ensembl Gene

ENSMUSG00000034126

Gene Name

protein-O-mannosyltransferase 2

Synonyms

A830009D15Rik

MMRRC Submission

040020-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R2011 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

87153635-87194742 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 87158173 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 680 (L680P)

Ref Sequence

ENSEMBL: ENSMUSP00000035260 (fasta)

Gene Model

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

AlphaFold

Q8BGQ4

Predicted Effect

possibly damaging
Transcript: ENSMUST00000037788
AA Change: L680P

PolyPhen 2 Score 0.948 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000035260
Gene: ENSMUSG00000034126
AA Change: L680P

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: 99.3%
3x: 98.6%
10x: 97.2%
20x: 95.0%

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: 107 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abhd6	A	T	14: 8,042,742 (GRCm38)	T100S	probably benign	Het
Adam6a	T	C	12: 113,508,998 (GRCm39)	I457T	probably benign	Het
Aff3	T	C	1: 38,246,996 (GRCm39)	N863S	probably benign	Het
Agk	C	A	6: 40,353,168 (GRCm39)	D177E	probably benign	Het
Alg9	C	T	9: 50,699,500 (GRCm39)	A209V	probably damaging	Het
Arl6	A	T	16: 59,444,676 (GRCm39)	I51K	probably damaging	Het
Bpi	A	T	2: 158,103,272 (GRCm39)	H89L	probably damaging	Het
C1qtnf1	T	A	11: 118,339,110 (GRCm39)	F260Y	probably benign	Het
Cblc	T	A	7: 19,518,747 (GRCm39)	D452V	probably benign	Het
Ccar1	T	C	10: 62,612,473 (GRCm39)	T231A	probably benign	Het
Ccdc112	A	G	18: 46,420,499 (GRCm39)	L417P	probably damaging	Het
Ccdc34	G	A	2: 109,874,649 (GRCm39)	R336Q	possibly damaging	Het
CK137956	A	G	4: 127,844,829 (GRCm39)	S305P	probably benign	Het
Clip2	T	C	5: 134,531,969 (GRCm39)	D612G	probably damaging	Het
Col28a1	T	C	6: 8,059,360 (GRCm39)	T692A	probably benign	Het
Copg2	A	T	6: 30,793,676 (GRCm39)		probably null	Het
Ctnna2	T	A	6: 76,950,774 (GRCm39)	I566F	possibly damaging	Het
Cux2	C	T	5: 121,999,389 (GRCm39)	D1184N	probably benign	Het
Dclk3	A	G	9: 111,297,422 (GRCm39)	E322G	probably benign	Het
Ddx41	A	T	13: 55,681,906 (GRCm39)		probably null	Het
Dnaaf2	G	A	12: 69,243,559 (GRCm39)	P107S	probably damaging	Het
Eif2ak4	A	G	2: 118,261,428 (GRCm39)	E578G	probably damaging	Het
Exd1	A	G	2: 119,359,144 (GRCm39)		probably benign	Het
Fat2	G	A	11: 55,173,583 (GRCm39)	P2377S	probably damaging	Het
Fbxl18	T	C	5: 142,858,214 (GRCm39)	T741A	probably benign	Het
Fgr	C	A	4: 132,724,832 (GRCm39)	A311E	probably damaging	Het
Fmo4	T	C	1: 162,626,458 (GRCm39)	T363A	probably damaging	Het
Fsbp	T	C	4: 11,584,006 (GRCm39)	V235A	probably benign	Het
Gm1110	T	A	9: 26,805,554 (GRCm39)	H366L	probably benign	Het
Gm43302	T	C	5: 105,438,846 (GRCm39)	N14S	probably damaging	Het
Gm5422	A	G	10: 31,124,764 (GRCm39)		noncoding transcript	Het
Gm57858	A	T	3: 36,064,827 (GRCm39)	C515*	probably null	Het
Gpr21	A	G	2: 37,407,547 (GRCm39)	E31G	probably damaging	Het
Gucy1b2	G	T	14: 62,646,207 (GRCm39)	N560K	probably damaging	Het
Hmcn1	T	C	1: 150,553,085 (GRCm39)	Q2535R	probably benign	Het
Hnrnpm	A	T	17: 33,883,598 (GRCm39)	N264K	probably damaging	Het
Hyal6	A	T	6: 24,734,723 (GRCm39)	I219L	possibly damaging	Het
Ifi211	A	G	1: 173,735,169 (GRCm39)	S87P	probably damaging	Het
Il17rb	A	T	14: 29,718,797 (GRCm39)	C428*	probably null	Het
Iqca1	T	C	1: 89,973,348 (GRCm39)	N808S	probably benign	Het
Kcnu1	A	G	8: 26,408,470 (GRCm39)	I94V	probably benign	Het
Lrba	A	T	3: 86,217,324 (GRCm39)	E517V	probably damaging	Het
Mcidas	A	G	13: 113,130,515 (GRCm39)	E37G	possibly damaging	Het
Med23	T	A	10: 24,755,653 (GRCm39)	F83L	possibly damaging	Het
Micu2	T	C	14: 58,191,590 (GRCm39)		probably null	Het
Mrgprx2	A	T	7: 48,132,282 (GRCm39)	C179S	probably damaging	Het
Myo6	A	G	9: 80,215,004 (GRCm39)	T1236A	probably damaging	Het
Myo7a	A	T	7: 97,703,915 (GRCm39)	V1946E	possibly damaging	Het
Nek10	A	T	14: 14,885,122 (GRCm38)	Y695F	probably damaging	Het
Nr3c2	A	T	8: 77,636,422 (GRCm39)	I508F	possibly damaging	Het
Or11g27	T	C	14: 50,771,141 (GRCm39)	S91P	probably damaging	Het
Or14a260	A	T	7: 85,984,955 (GRCm39)	Y216*	probably null	Het
Or2ag13	T	C	7: 106,472,634 (GRCm39)	I273V	probably benign	Het
Or5w1b	A	T	2: 87,476,233 (GRCm39)	I78N	probably damaging	Het
Or8k23	A	T	2: 86,186,530 (GRCm39)	H65Q	possibly damaging	Het
Or9s13	T	C	1: 92,548,471 (GRCm39)	V281A	probably benign	Het
Oxct1	T	C	15: 4,183,243 (GRCm39)	S485P	probably benign	Het
Oxt	A	G	2: 130,418,572 (GRCm39)	D61G	probably damaging	Het
P2ry10	A	C	X: 106,146,241 (GRCm39)	I59L	probably damaging	Het
Parp11	A	G	6: 127,454,854 (GRCm39)	N124S	probably benign	Het
Pcdh7	T	A	5: 57,876,971 (GRCm39)	N175K	probably damaging	Het
Pdgfrb	T	A	18: 61,194,566 (GRCm39)	S114R	probably benign	Het
Pfdn5	A	G	15: 102,234,956 (GRCm39)	N54S	possibly damaging	Het
Phc2	T	A	4: 128,617,378 (GRCm39)	V468E	probably benign	Het
Piezo2	T	C	18: 63,192,815 (GRCm39)	T1605A	probably damaging	Het
Pik3cb	A	T	9: 98,987,632 (GRCm39)	Y35*	probably null	Het
Piwil2	A	T	14: 70,664,083 (GRCm39)	M22K	probably damaging	Het
Plag1	A	G	4: 3,904,889 (GRCm39)	F101L	probably damaging	Het
Ppp1r36	A	G	12: 76,465,700 (GRCm39)		probably null	Het
Prkag2	C	T	5: 25,076,052 (GRCm39)		probably null	Het
Prkg1	T	C	19: 31,641,542 (GRCm39)	D47G	possibly damaging	Het
Prl6a1	G	A	13: 27,499,352 (GRCm39)	G45D	probably benign	Het
Rbm20	G	A	19: 53,847,859 (GRCm39)	C1135Y	probably damaging	Het
Recql5	A	T	11: 115,787,923 (GRCm39)	N465K	probably benign	Het
Rlig1	T	G	10: 100,419,820 (GRCm39)	D58A	probably damaging	Het
Rtcb	A	T	10: 85,777,797 (GRCm39)	I459N	probably damaging	Het
Rtp3	A	T	9: 110,815,102 (GRCm39)		probably benign	Het
Rundc3b	T	A	5: 8,562,409 (GRCm39)		probably null	Het
Scube3	A	G	17: 28,387,132 (GRCm39)	T877A	probably damaging	Het
Sh2d4a	A	T	8: 68,799,394 (GRCm39)	Q421L	probably benign	Het
Siglec1	A	T	2: 130,925,277 (GRCm39)	Y395N	probably damaging	Het
Slc6a1	G	T	6: 114,284,731 (GRCm39)	G263V	probably damaging	Het
Slco1c1	T	A	6: 141,500,833 (GRCm39)	F437L	probably benign	Het
Slco3a1	G	A	7: 73,996,419 (GRCm39)	A329V	probably benign	Het
Spag9	T	A	11: 93,983,201 (GRCm39)	L504*	probably null	Het
Spen	A	T	4: 141,200,640 (GRCm39)	N2662K	probably damaging	Het
Sptb	G	C	12: 76,679,246 (GRCm39)	R70G	possibly damaging	Het
Stk3	A	G	15: 35,072,644 (GRCm39)	S136P	probably damaging	Het
Synj1	A	T	16: 90,735,584 (GRCm39)	F1456L	probably damaging	Het
Tbx5	T	C	5: 119,979,971 (GRCm39)		probably null	Het
Tchh	G	A	3: 93,354,268 (GRCm39)	R1236Q	unknown	Het
Timd4	C	A	11: 46,710,857 (GRCm39)	T253K	possibly damaging	Het
Tmc6	A	G	11: 117,660,232 (GRCm39)	Y669H	probably damaging	Het
Tmem151a	C	T	19: 5,132,966 (GRCm39)	R80H	probably benign	Het
Tpgs1	T	C	10: 79,511,722 (GRCm39)	L288P	probably damaging	Het
Trhde	T	C	10: 114,334,698 (GRCm39)	I659V	probably benign	Het
Trpm7	A	T	2: 126,665,917 (GRCm39)	Y896*	probably null	Het
Ttc5	C	A	14: 51,019,007 (GRCm39)	E37*	probably null	Het
Uvrag	A	G	7: 98,589,096 (GRCm39)		probably null	Het
Vmn1r59	T	A	7: 5,457,283 (GRCm39)	D159V	probably damaging	Het
Vmn2r78	G	A	7: 86,604,287 (GRCm39)	V822M	possibly damaging	Het
Vnn1	C	A	10: 23,770,869 (GRCm39)	Y32*	probably null	Het
Wrn	A	G	8: 33,726,432 (GRCm39)	V1380A	probably benign	Het
Zc3h14	A	C	12: 98,746,527 (GRCm39)	S579R	possibly damaging	Het
Zfp277	G	A	12: 40,367,217 (GRCm39)	Q480*	probably null	Het
Zfp456	G	A	13: 67,514,993 (GRCm39)	Q238*	probably null	Het
Zranb3	T	A	1: 128,019,638 (GRCm39)	T35S	probably benign	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
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'- TGAGCCCAGTGTAAAGCATC -3'
(R):5'- TTCTCAGGGGCCAATGACAC -3'

Sequencing Primer
(F):5'- GAGCCCAGTGTAAAGCATCTCTTG -3'
(R):5'- GGCCAATGACACGGACTTC -3'

Posted On

2014-08-25