Mutagenetix > Incidental Mutation

Incidental Mutation 'R5735:Pomt1'

451626

Institutional Source

Beutler Lab

Gene Symbol

Pomt1

Ensembl Gene

ENSMUSG00000039254

Gene Name

protein-O-mannosyltransferase 1

Synonyms

MMRRC Submission

043349-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.134) question?

Stock #

R5735 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

32126652-32145017 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 32133517 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glycine to Arginine at position 218 (G218R)

Ref Sequence

ENSEMBL: ENSMUSP00000116117 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000036473] [ENSMUST00000123740] [ENSMUST00000146485]

AlphaFold

Q8R2R1

Predicted Effect

probably damaging
Transcript: ENSMUST00000036473
AA Change: G216R

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

SMART Domains

Protein: ENSMUSP00000038722
Gene: ENSMUSG00000039254
AA Change: G216R

Domain	Start	End	E-Value	Type
Pfam:PMT	42	289	2.8e-96	PFAM
MIR	318	381	7.45e-8	SMART
MIR	392	449	1.65e-9	SMART
MIR	456	513	6.2e-5	SMART
Pfam:PMT_4TMC	542	740	3.9e-50	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000123740
AA Change: G194R

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

SMART Domains

Protein: ENSMUSP00000116543
Gene: ENSMUSG00000039254
AA Change: G194R

Domain	Start	End	E-Value	Type
Pfam:PMT	20	233	1.3e-84	PFAM
Pfam:PMT_2	64	229	3.2e-9	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000129163

Predicted Effect

probably benign
Transcript: ENSMUST00000132516

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000132853

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000138000

Predicted Effect

probably damaging
Transcript: ENSMUST00000146485
AA Change: G218R

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

SMART Domains

Protein: ENSMUSP00000116117
Gene: ENSMUSG00000039254
AA Change: G218R

Domain	Start	End	E-Value	Type
Pfam:PMT	44	227	9e-73	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000154684

Coding Region Coverage

1x: 99.0%
3x: 98.3%
10x: 96.8%
20x: 94.4%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is an O-mannosyltransferase that requires interaction with the product of the POMT2 gene for enzymatic function. The encoded protein is found in the membrane of the endoplasmic reticulum. Defects in this gene are a cause of Walker-Warburg syndrome (WWS) and limb-girdle muscular dystrophy type 2K (LGMD2K). Several transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Oct 2008]
PHENOTYPE: Homozygous mutation of this gene with one allele results in embryonic lethality with disruption of Reichert's membrane. Heterozygous mutation with a second allele results in ectasia in kidney and liver veins and an increased neutrophil count. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 67 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts16	C	A	13: 70,984,337 (GRCm39)	D109Y	possibly damaging	Het
Armc8	T	A	9: 99,379,447 (GRCm39)		probably null	Het
Atg4b	G	T	1: 93,701,519 (GRCm39)	G71V	probably damaging	Het
Atp10b	A	T	11: 43,042,601 (GRCm39)	M54L	probably benign	Het
Baiap2l1	A	G	5: 144,223,112 (GRCm39)	L75P	probably damaging	Het
Bnc2	A	C	4: 84,210,908 (GRCm39)	L487R	probably damaging	Het
Cacng7	T	C	7: 3,387,539 (GRCm39)	S141P	probably benign	Het
Carmil2	G	A	8: 106,424,663 (GRCm39)	G1361D	probably damaging	Het
Cenpf	T	C	1: 189,386,560 (GRCm39)	I1907V	probably benign	Het
Cep192	T	C	18: 68,013,866 (GRCm39)	V2422A	probably benign	Het
Cfap73	T	A	5: 120,770,671 (GRCm39)	Q33L	probably benign	Het
Cip2a	T	A	16: 48,837,856 (GRCm39)		probably null	Het
Cmtm2a	A	T	8: 105,019,418 (GRCm39)	I57N	probably damaging	Het
Col6a2	T	A	10: 76,435,727 (GRCm39)	D836V	probably benign	Het
Dnah2	A	G	11: 69,321,643 (GRCm39)	V3839A	possibly damaging	Het
Enpp1	A	T	10: 24,530,817 (GRCm39)	F546L	possibly damaging	Het
Eps8l2	A	G	7: 140,940,290 (GRCm39)	T507A	probably damaging	Het
Erg28	C	T	12: 85,862,926 (GRCm39)	E129K	probably benign	Het
Erlec1	A	T	11: 30,900,591 (GRCm39)	N153K	probably benign	Het
Fam234a	T	C	17: 26,432,679 (GRCm39)	E490G	probably damaging	Het
Fat4	C	T	3: 39,003,725 (GRCm39)	R1815C	probably damaging	Het
Galnt1	T	G	18: 24,397,577 (GRCm39)	I226S	possibly damaging	Het
Ifnl2	T	A	7: 28,209,614 (GRCm39)	I58F	possibly damaging	Het
Itih5	A	G	2: 10,245,572 (GRCm39)	N554D	probably benign	Het
Kcna10	A	G	3: 107,102,394 (GRCm39)	I342V	probably benign	Het
Kif6	G	A	17: 50,139,210 (GRCm39)	E561K	probably damaging	Het
Kl	A	G	5: 150,915,003 (GRCm39)	N910S	possibly damaging	Het
Lpar2	G	T	8: 70,276,385 (GRCm39)	R58L	probably damaging	Het
Macrod2	A	G	2: 140,260,809 (GRCm39)	T27A	possibly damaging	Het
Mfsd2a	A	T	4: 122,843,120 (GRCm39)	V387D	probably damaging	Het
Npas3	A	T	12: 54,050,262 (GRCm39)	T231S	probably benign	Het
Or4a70	A	T	2: 89,323,812 (GRCm39)	N281K	probably damaging	Het
Or52n5	A	T	7: 104,587,966 (GRCm39)	T78S	probably benign	Het
Or5aq1b	A	T	2: 86,901,756 (GRCm39)	C241S	probably damaging	Het
Or8h10	A	G	2: 86,809,044 (GRCm39)	V32A	probably benign	Het
Otx1	C	A	11: 21,947,037 (GRCm39)	A91S	probably damaging	Het
Pde10a	A	T	17: 9,160,024 (GRCm39)	I432F	probably damaging	Het
Phka2	ACC	AC	X: 159,342,862 (GRCm39)		probably null	Het
Potefam1	A	T	2: 111,055,837 (GRCm39)	L183*	probably null	Het
Pramel22	A	T	4: 143,381,205 (GRCm39)	C273S	probably damaging	Het
Prdm5	C	T	6: 65,904,974 (GRCm39)	T157I	possibly damaging	Het
Psen2	T	A	1: 180,068,491 (GRCm39)	E54V	probably benign	Het
Ptpn13	C	A	5: 103,702,686 (GRCm39)	H1217Q	probably benign	Het
Ptprt	A	G	2: 161,376,484 (GRCm39)	S1306P	probably damaging	Het
Ptpru	G	T	4: 131,565,401 (GRCm39)	P23T	probably benign	Het
Rtn3	T	C	19: 7,434,057 (GRCm39)	E626G	probably damaging	Het
Scn3a	A	T	2: 65,312,622 (GRCm39)	M1191K	probably damaging	Het
Scn3a	T	A	2: 65,314,803 (GRCm39)	N1086I	probably benign	Het
Sgms2	A	T	3: 131,129,866 (GRCm39)	M174K	probably damaging	Het
Skor1	T	A	9: 63,053,346 (GRCm39)	I180F	probably damaging	Het
Slit2	T	G	5: 48,416,958 (GRCm39)	C1003W	probably damaging	Het
Tbc1d2b	T	A	9: 90,104,462 (GRCm39)	Q560L	possibly damaging	Het
Themis	A	G	10: 28,598,530 (GRCm39)	I51V	probably benign	Het
Tmem203	T	C	2: 25,146,085 (GRCm39)	V135A	probably benign	Het
Tns1	T	C	1: 73,967,138 (GRCm39)	T1212A	probably benign	Het
Trgv5	T	G	13: 19,376,695 (GRCm39)	H47Q	probably benign	Het
Trim2	G	A	3: 84,075,029 (GRCm39)	A697V	probably damaging	Het
Ubxn4	T	C	1: 128,186,677 (GRCm39)	S37P	possibly damaging	Het
Vmn2r17	A	G	5: 109,600,716 (GRCm39)	I671M	possibly damaging	Het
Vmn2r94	G	T	17: 18,464,066 (GRCm39)	S741R	probably damaging	Het
Vwce	C	A	19: 10,624,431 (GRCm39)	D414E	probably benign	Het
Zfp397	T	C	18: 24,093,249 (GRCm39)	S245P	possibly damaging	Het
Zfp747l1	G	T	7: 126,984,579 (GRCm39)	H174Q	possibly damaging	Het
Zfp809	T	A	9: 22,150,227 (GRCm39)	Y241*	probably null	Het
Zfp995	C	T	17: 22,101,010 (GRCm39)	C29Y	probably benign	Het
Zfta	A	G	19: 7,400,161 (GRCm39)	E209G	probably benign	Het
Zfyve26	T	C	12: 79,320,147 (GRCm39)	D1066G	probably damaging	Het

Other mutations in Pomt1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00093:Pomt1	APN	2	32,131,784 (GRCm39)	missense	probably benign
IGL01926:Pomt1	APN	2	32,133,484 (GRCm39)	missense	probably benign	0.23
IGL02237:Pomt1	APN	2	32,135,689 (GRCm39)	missense	probably benign	0.18
IGL02281:Pomt1	APN	2	32,138,658 (GRCm39)	missense	possibly damaging	0.95
IGL03001:Pomt1	APN	2	32,134,338 (GRCm39)	missense	probably benign
IGL03216:Pomt1	APN	2	32,132,955 (GRCm39)	missense	probably damaging	0.99
IGL03343:Pomt1	APN	2	32,143,724 (GRCm39)	splice site	probably benign
R0049:Pomt1	UTSW	2	32,142,023 (GRCm39)	missense	possibly damaging	0.88
R0049:Pomt1	UTSW	2	32,142,023 (GRCm39)	missense	possibly damaging	0.88
R0975:Pomt1	UTSW	2	32,143,907 (GRCm39)	critical splice donor site	probably null
R1199:Pomt1	UTSW	2	32,140,504 (GRCm39)	missense	probably benign
R1414:Pomt1	UTSW	2	32,133,622 (GRCm39)	splice site	probably benign
R1421:Pomt1	UTSW	2	32,126,765 (GRCm39)	unclassified	probably benign
R1806:Pomt1	UTSW	2	32,131,680 (GRCm39)	missense	probably damaging	1.00
R2173:Pomt1	UTSW	2	32,140,912 (GRCm39)	missense	probably damaging	1.00
R2209:Pomt1	UTSW	2	32,140,874 (GRCm39)	missense	possibly damaging	0.90
R2302:Pomt1	UTSW	2	32,133,671 (GRCm39)	missense	probably benign	0.00
R3084:Pomt1	UTSW	2	32,134,252 (GRCm39)	missense	probably benign	0.02
R3774:Pomt1	UTSW	2	32,134,262 (GRCm39)	missense	possibly damaging	0.93
R3933:Pomt1	UTSW	2	32,135,631 (GRCm39)	missense	probably benign	0.00
R4177:Pomt1	UTSW	2	32,138,689 (GRCm39)	missense	probably damaging	0.99
R4626:Pomt1	UTSW	2	32,144,424 (GRCm39)	missense	possibly damaging	0.84
R4645:Pomt1	UTSW	2	32,132,888 (GRCm39)	intron	probably benign
R4864:Pomt1	UTSW	2	32,142,004 (GRCm39)	missense	probably benign	0.02
R4911:Pomt1	UTSW	2	32,131,691 (GRCm39)	missense	probably damaging	0.97
R5143:Pomt1	UTSW	2	32,144,341 (GRCm39)	missense	probably benign	0.23
R5288:Pomt1	UTSW	2	32,134,311 (GRCm39)	nonsense	probably null
R5385:Pomt1	UTSW	2	32,134,311 (GRCm39)	nonsense	probably null
R5718:Pomt1	UTSW	2	32,138,704 (GRCm39)	missense	possibly damaging	0.91
R5754:Pomt1	UTSW	2	32,137,602 (GRCm39)	missense	probably damaging	0.99
R5817:Pomt1	UTSW	2	32,138,691 (GRCm39)	missense	probably damaging	0.97
R6304:Pomt1	UTSW	2	32,140,802 (GRCm39)	missense	probably damaging	1.00
R6477:Pomt1	UTSW	2	32,138,728 (GRCm39)	splice site	probably null
R6793:Pomt1	UTSW	2	32,132,961 (GRCm39)	missense	probably damaging	1.00
R6918:Pomt1	UTSW	2	32,142,873 (GRCm39)	splice site	probably null
R7114:Pomt1	UTSW	2	32,143,848 (GRCm39)	missense	probably benign	0.41
R8140:Pomt1	UTSW	2	32,134,309 (GRCm39)	missense	probably damaging	1.00
R8380:Pomt1	UTSW	2	32,135,619 (GRCm39)	missense	probably damaging	1.00
R9082:Pomt1	UTSW	2	32,142,973 (GRCm39)	missense	probably damaging	0.98
R9578:Pomt1	UTSW	2	32,133,543 (GRCm39)	critical splice donor site	probably null
Z1177:Pomt1	UTSW	2	32,127,101 (GRCm39)	start gained	probably benign

Predicted Primers

PCR Primer
(F):5'- GGAAAGTTCTTCTGAGACCCAAATG -3'
(R):5'- GTCTCCGATCAGATTCCACG -3'

Sequencing Primer
(F):5'- CCAAATGGGGAGGTATGGTTC -3'
(R):5'- GCGTGGACAGCTGCAATG -3'

Posted On

2017-01-03