Mutagenetix > Incidental Mutation

Incidental Mutation 'R1909:Pomgnt2'

210175

Institutional Source

Beutler Lab

Gene Symbol

Pomgnt2

Ensembl Gene

ENSMUSG00000066235

Gene Name

protein O-linked mannose beta 1,4-N-acetylglucosaminyltransferase 2

Synonyms

C85492, Gtdc2

MMRRC Submission

039928-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R1909 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

121981606-121997110 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 121982191 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Asparagine at position 508 (I508N)

Ref Sequence

ENSEMBL: ENSMUSP00000149753 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000043011] [ENSMUST00000084743] [ENSMUST00000213773] [ENSMUST00000214511] [ENSMUST00000214533] [ENSMUST00000214536] [ENSMUST00000215084] [ENSMUST00000215990] [ENSMUST00000216669] [ENSMUST00000217610]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000043011

SMART Domains

Protein: ENSMUSP00000040221
Gene: ENSMUSG00000038233

Domain	Start	End	E-Value	Type
signal peptide	1	22	N/A	INTRINSIC
low complexity region	183	194	N/A	INTRINSIC
Pfam:FAM198	220	544	1.3e-150	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000084743
AA Change: I508N

PolyPhen 2 Score 0.890 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000095868
Gene: ENSMUSG00000066235
AA Change: I508N

Domain	Start	End	E-Value	Type
signal peptide	1	16	N/A	INTRINSIC
low complexity region	29	38	N/A	INTRINSIC
Pfam:DUF563	162	395	1.7e-25	PFAM
low complexity region	462	475	N/A	INTRINSIC
SCOP:d1f6fb2	482	580	6e-9	SMART
Blast:FN3	486	570	2e-49	BLAST

Predicted Effect

probably benign
Transcript: ENSMUST00000213773

Predicted Effect

probably benign
Transcript: ENSMUST00000214511

Predicted Effect

probably benign
Transcript: ENSMUST00000214533

Predicted Effect

probably benign
Transcript: ENSMUST00000214536

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000215008

Predicted Effect

probably benign
Transcript: ENSMUST00000215084

Predicted Effect

probably benign
Transcript: ENSMUST00000215990

Predicted Effect

possibly damaging
Transcript: ENSMUST00000216669
AA Change: I508N

PolyPhen 2 Score 0.890 (Sensitivity: 0.82; Specificity: 0.94)

Predicted Effect

possibly damaging
Transcript: ENSMUST00000217610
AA Change: I508N

PolyPhen 2 Score 0.890 (Sensitivity: 0.82; Specificity: 0.94)

Coding Region Coverage

1x: 97.4%
3x: 96.8%
10x: 95.4%
20x: 93.1%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein with glycosyltransferase activity although its function is not currently known. [provided by RefSeq, Sep 2012]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit decreased birth body size and complete neonatal lethality associated with abnormal basal lamina formation and a neuronal migration defect due to a lack of laminin-binding glycans on alpha-dystroglycan. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 112 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4931406P16Rik	T	A	7: 34,258,036	I59L	probably benign	Het
9530053A07Rik	T	C	7: 28,144,348	V887A	possibly damaging	Het
Aarsd1	A	C	11: 101,410,231		probably null	Het
Abcc5	A	G	16: 20,376,509		probably null	Het
Abcc6	T	C	7: 46,020,134		probably null	Het
Adam15	C	A	3: 89,345,330	M317I	probably benign	Het
Ago3	T	C	4: 126,346,737	T111A	probably damaging	Het
Amz1	G	T	5: 140,752,461	S492I	probably benign	Het
Arid1a	T	C	4: 133,693,761	N911S	unknown	Het
Arntl2	A	T	6: 146,810,810	E111V	probably benign	Het
Ascl2	C	A	7: 142,968,163	A115S	probably damaging	Het
Ash1l	T	C	3: 88,984,528	V1238A	probably benign	Het
Asxl2	G	T	12: 3,474,577	V202F	probably damaging	Het
Atp10a	A	T	7: 58,828,712	Q1501L	probably benign	Het
Avpr1a	A	T	10: 122,452,208	I374L	probably benign	Het
Bmx	T	C	X: 164,239,415	H157R	probably benign	Het
Camk4	T	A	18: 33,158,816		probably null	Het
Ccdc103	G	A	11: 102,882,566	D5N	probably benign	Het
Ccdc186	A	T	19: 56,793,361	N70K	probably damaging	Het
Cebpz	A	T	17: 78,934,907	Y439*	probably null	Het
Cfap206	A	C	4: 34,722,714	S122R	probably benign	Het
Cnst	T	C	1: 179,622,791	S607P	probably damaging	Het
Col8a2	C	A	4: 126,312,133	D645E	possibly damaging	Het
Cpsf4l	A	T	11: 113,703,378		probably null	Het
Crim1	C	T	17: 78,313,127	T332I	probably benign	Het
Csmd1	A	T	8: 15,906,116	Y3364N	probably damaging	Het
D5Ertd579e	A	T	5: 36,614,058	S998T	probably benign	Het
Dab2ip	C	G	2: 35,718,815	A587G	probably damaging	Het
Dach1	C	T	14: 97,901,393	G486D	probably damaging	Het
Ddx24	T	C	12: 103,409,982	I752V	probably damaging	Het
Dhx33	A	G	11: 70,989,107	V359A	probably benign	Het
Dip2c	A	T	13: 9,533,350	T123S	probably benign	Het
Dync1h1	G	A	12: 110,662,629	E4207K	probably damaging	Het
Eef1b2	G	T	1: 63,177,272	D21Y	probably damaging	Het
Eif3b	T	C	5: 140,432,937	S462P	probably damaging	Het
Elmod2	G	C	8: 83,316,369	R277G	probably benign	Het
Epg5	T	A	18: 77,959,032	D555E	probably benign	Het
Ercc8	A	T	13: 108,175,566	K172*	probably null	Het
Fat3	T	C	9: 15,998,115	N2197S	probably benign	Het
Fbf1	A	G	11: 116,145,992	V972A	possibly damaging	Het
Fes	T	C	7: 80,386,861	R113G	probably damaging	Het
Fzd1	G	T	5: 4,757,481	H34N	probably benign	Het
Galnt17	T	A	5: 131,111,838	Y147F	probably benign	Het
Gdf6	T	C	4: 9,859,971	L351P	probably damaging	Het
Gm10277	TC	T	11: 77,786,002		probably null	Het
Gm15448	A	T	7: 3,822,919	I317N	probably benign	Het
Gm2381	A	T	7: 42,819,928	H257Q	probably damaging	Het
Gm6904	A	T	14: 59,258,613	S17R	probably benign	Het
Gm9844	T	C	7: 24,862,306	I10T	possibly damaging	Het
Hivep1	A	T	13: 42,155,646	K454M	probably benign	Het
Hmmr	T	A	11: 40,708,098	E566D	probably damaging	Het
Hydin	T	G	8: 110,587,772	V4296G	probably damaging	Het
Il18r1	T	A	1: 40,474,914	D93E	probably damaging	Het
Iqgap1	T	C	7: 80,743,828	D667G	probably benign	Het
Lama3	T	C	18: 12,581,798	I3278T	probably benign	Het
Lrp4	T	A	2: 91,498,408	V1551D	possibly damaging	Het
Mdn1	CGGAGGAGGAGGAGGAG	CGGAGGAGGAGGAG	4: 32,760,839		probably benign	Het
Mga	T	A	2: 119,926,594	H1018Q	possibly damaging	Het
Ncoa7	A	T	10: 30,689,800	M666K	probably damaging	Het
Ndnf	T	G	6: 65,703,313	V192G	possibly damaging	Het
Nr4a1	T	A	15: 101,274,227	I594N	probably damaging	Het
Olfr1294	T	A	2: 111,538,014	I92F	probably damaging	Het
Olfr60	T	C	7: 140,345,465	I175V	probably benign	Het
Olfr618	A	G	7: 103,597,343	N9S	probably benign	Het
Olfr635	G	A	7: 103,979,790	W199*	probably null	Het
Olfr698	T	C	7: 106,752,995	N131S	probably benign	Het
Paxbp1	T	C	16: 91,044,305		probably benign	Het
Pcdhb8	A	G	18: 37,355,962	E231G	possibly damaging	Het
Pcsk5	A	T	19: 17,433,461	Y1856N	probably benign	Het
Pde3a	T	C	6: 141,250,239	V217A	probably benign	Het
Pirb	A	T	7: 3,714,588	D674E	probably benign	Het
Pnisr	T	A	4: 21,869,517	M335K	possibly damaging	Het
Pnpla7	T	A	2: 24,997,288	M48K	possibly damaging	Het
Ppp2r5e	C	G	12: 75,469,567	A239P	probably damaging	Het
Prkca	A	T	11: 107,939,612	D217E	possibly damaging	Het
Rac3	A	C	11: 120,723,337	I142L	probably benign	Het
Ralgapb	G	T	2: 158,444,675	A347S	probably damaging	Het
Rbm43	G	C	2: 51,925,434	S258R	possibly damaging	Het
Rnf182	T	A	13: 43,668,423	V150E	probably benign	Het
Rsph10b	T	C	5: 143,985,491	F409L	probably benign	Het
Ryr2	A	T	13: 11,700,349	L2778M	probably damaging	Het
Scn1a	T	C	2: 66,331,352	N284S	possibly damaging	Het
Scyl2	A	T	10: 89,640,905	M786K	probably benign	Het
Sema4g	C	A	19: 44,997,622	R301S	probably damaging	Het
Senp6	A	T	9: 80,113,774	E245D	possibly damaging	Het
Setx	T	C	2: 29,163,009	V2095A	possibly damaging	Het
Slc13a2	A	T	11: 78,400,142	M412K	possibly damaging	Het
Slc25a4	T	C	8: 46,209,400	N74D	probably damaging	Het
Slc28a1	T	A	7: 81,142,035	F316L	probably damaging	Het
Slfn8	G	A	11: 83,003,621	Q731*	probably null	Het
Slitrk4	A	G	X: 64,272,623	I146T	probably damaging	Het
Smg1	A	G	7: 118,154,199		probably benign	Het
Smg8	G	T	11: 87,080,613	Y777*	probably null	Het
Smyd1	T	A	6: 71,239,579	K61N	probably benign	Het
Sod2	T	C	17: 13,015,169	*223R	probably null	Het
Sp6	G	T	11: 97,021,508	A16S	probably benign	Het
Spata31d1a	A	C	13: 59,702,695	Y540D	probably damaging	Het
Spatc1l	A	G	10: 76,563,917	D91G	probably damaging	Het
Spg7	A	G	8: 123,080,741	T419A	probably benign	Het
St5	G	A	7: 109,525,326	Q686*	probably null	Het
St8sia4	A	G	1: 95,627,573	I244T	probably damaging	Het
Tbl2	C	T	5: 135,152,991	R27W	probably damaging	Het
Tmed4	G	A	11: 6,274,694	P47L	probably damaging	Het
Tmtc1	T	C	6: 148,444,048	D51G	possibly damaging	Het
Ttc28	T	C	5: 111,284,054		probably null	Het
Unc13d	A	G	11: 116,070,295	F412S	probably damaging	Het
Unc45b	A	C	11: 82,926,087	K451T	probably damaging	Het
Vmn2r16	A	G	5: 109,363,987	M687V	probably benign	Het
Vmn2r68	T	A	7: 85,234,052	H164L	probably benign	Het
Vps51	A	G	19: 6,069,469	V625A	probably benign	Het
Wapl	T	A	14: 34,691,912	W244R	probably damaging	Het
Wdr75	C	T	1: 45,823,403	T794I	probably benign	Het

Other mutations in Pomgnt2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00596:Pomgnt2	APN	9	121983125	missense	probably benign	0.03
IGL01911:Pomgnt2	APN	9	121982788	missense	probably benign	0.05
IGL01943:Pomgnt2	APN	9	121982470	missense	probably benign	0.06
IGL02955:Pomgnt2	APN	9	121982890	missense	probably damaging	1.00
H8441:Pomgnt2	UTSW	9	121982584	missense	probably damaging	1.00
R0080:Pomgnt2	UTSW	9	121982260	missense	probably damaging	1.00
R0082:Pomgnt2	UTSW	9	121982260	missense	probably damaging	1.00
R0602:Pomgnt2	UTSW	9	121982273	missense	probably benign	0.02
R0715:Pomgnt2	UTSW	9	121982061	missense	probably damaging	1.00
R1491:Pomgnt2	UTSW	9	121982260	missense	probably damaging	1.00
R1908:Pomgnt2	UTSW	9	121982191	missense	possibly damaging	0.89
R2041:Pomgnt2	UTSW	9	121982288	missense	probably benign	0.00
R4428:Pomgnt2	UTSW	9	121982254	missense	possibly damaging	0.71
R4578:Pomgnt2	UTSW	9	121983065	missense	probably damaging	1.00
R4910:Pomgnt2	UTSW	9	121982947	missense	probably benign	0.19
R4937:Pomgnt2	UTSW	9	121982554	missense	probably benign	0.05
R5409:Pomgnt2	UTSW	9	121982237	missense	possibly damaging	0.71
R6090:Pomgnt2	UTSW	9	121982797	missense	probably damaging	1.00
R6596:Pomgnt2	UTSW	9	121982254	missense	possibly damaging	0.71
R7152:Pomgnt2	UTSW	9	121983523	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- ACATCTGCAAAAGGTCCCAGG -3'
(R):5'- GGCTATTCCGAATCTACCAGGAC -3'

Sequencing Primer
(F):5'- GAGGCTCCTGTTAAATATACAGCG -3'
(R):5'- TCTACCAGGACACCAGGG -3'

Posted On

2014-06-30