Mutagenetix > Incidental Mutation

Incidental Mutation 'R1908:Pomgnt2'

210069

Institutional Source

Beutler Lab

Gene Symbol

Pomgnt2

Ensembl Gene

ENSMUSG00000066235

Gene Name

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

Synonyms

Gtdc2, C85492

MMRRC Submission

039927-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R1908 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

121810675-121825116 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 121811257 bp (GRCm39)

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] [ENSMUST00000216669] [ENSMUST00000217610] [ENSMUST00000215990] [ENSMUST00000215084]

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

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)

Predicted Effect

probably benign
Transcript: ENSMUST00000215990

Predicted Effect

probably benign
Transcript: ENSMUST00000215084

Coding Region Coverage

1x: 97.3%
3x: 96.8%
10x: 95.4%
20x: 93.0%

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: 83 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca8b	C	A	11: 109,847,924 (GRCm39)	L852F	possibly damaging	Het
Abcc6	T	C	7: 45,669,558 (GRCm39)		probably null	Het
Alg11	T	G	8: 22,555,584 (GRCm39)	C240G	probably damaging	Het
Aox1	A	G	1: 58,141,783 (GRCm39)	I1190V	probably damaging	Het
Apc2	T	G	10: 80,150,678 (GRCm39)	S1911A	probably benign	Het
Arfgef3	T	C	10: 18,528,511 (GRCm39)	D292G	possibly damaging	Het
Arhgef4	C	A	1: 34,763,340 (GRCm39)	S865R	probably benign	Het
Ass1	T	A	2: 31,383,160 (GRCm39)	Y190*	probably null	Het
B4galnt3	A	T	6: 120,187,051 (GRCm39)		probably null	Het
Btnl10	C	A	11: 58,811,367 (GRCm39)	P230Q	possibly damaging	Het
C3	A	G	17: 57,516,489 (GRCm39)	Y1348H	probably damaging	Het
Ccdc198	G	T	14: 49,464,032 (GRCm39)	D292E	probably damaging	Het
Cebpz	A	T	17: 79,242,336 (GRCm39)	Y439*	probably null	Het
Cic	C	A	7: 24,986,265 (GRCm39)	T1229K	probably damaging	Het
Clip4	T	C	17: 72,144,744 (GRCm39)	S524P	probably damaging	Het
Col6a3	A	C	1: 90,739,421 (GRCm39)	I269R	probably damaging	Het
Dbh	C	T	2: 27,071,506 (GRCm39)	T533I	possibly damaging	Het
Dcaf17	A	T	2: 70,890,713 (GRCm39)	R83*	probably null	Het
Dennd2b	G	A	7: 109,124,533 (GRCm39)	Q686*	probably null	Het
Dnah1	A	G	14: 30,984,515 (GRCm39)	L3923P	probably damaging	Het
Dnah7a	A	T	1: 53,670,721 (GRCm39)	D510E	probably benign	Het
Dock6	A	G	9: 21,752,925 (GRCm39)	F296S	probably damaging	Het
Eif4enif1	T	C	11: 3,177,455 (GRCm39)	S341P	probably damaging	Het
Epb41l1	G	T	2: 156,352,737 (GRCm39)	G461V	possibly damaging	Het
Epg5	T	A	18: 78,002,247 (GRCm39)	D555E	probably benign	Het
Fes	T	C	7: 80,036,609 (GRCm39)	R113G	probably damaging	Het
Garre1	T	A	7: 33,957,461 (GRCm39)	I59L	probably benign	Het
Gm10684	A	G	9: 45,021,511 (GRCm39)		probably benign	Het
Gm12185	T	C	11: 48,806,231 (GRCm39)	E320G	probably benign	Het
Gm14412	G	T	2: 177,007,269 (GRCm39)	H209N	probably damaging	Het
Gm14412	A	C	2: 177,007,630 (GRCm39)	S88R	probably benign	Het
Grhl1	T	A	12: 24,658,555 (GRCm39)	L400Q	probably damaging	Het
Havcr1	T	A	11: 46,664,511 (GRCm39)	Y216*	probably null	Het
Hephl1	A	C	9: 14,985,420 (GRCm39)	Y745*	probably null	Het
Hmcn2	T	G	2: 31,301,922 (GRCm39)		probably null	Het
Hs3st6	A	G	17: 24,977,110 (GRCm39)	K197E	possibly damaging	Het
Ifi214	C	T	1: 173,357,077 (GRCm39)	V9I	probably benign	Het
Jakmip2	T	C	18: 43,700,209 (GRCm39)	T450A	probably benign	Het
Lrp4	T	A	2: 91,328,753 (GRCm39)	V1551D	possibly damaging	Het
Macf1	A	T	4: 123,351,634 (GRCm39)	H1634Q	possibly damaging	Het
Mcpt8	T	A	14: 56,321,291 (GRCm39)	I58F	probably benign	Het
Mga	T	A	2: 119,757,075 (GRCm39)	H1018Q	possibly damaging	Het
Myo10	T	A	15: 25,801,308 (GRCm39)	V1499E	probably damaging	Het
Myom2	G	T	8: 15,131,023 (GRCm39)	D320Y	probably damaging	Het
Or11g7	T	A	14: 50,691,295 (GRCm39)	M262K	probably damaging	Het
Or13a27	T	C	7: 139,925,378 (GRCm39)	I175V	probably benign	Het
Or2r11	C	T	6: 42,437,360 (GRCm39)	V198M	probably benign	Het
Or2t26	A	C	11: 49,039,101 (GRCm39)	N6H	possibly damaging	Het
Or4c115	G	A	2: 88,927,888 (GRCm39)	P128S	probably damaging	Het
Or5d47	A	T	2: 87,804,403 (GRCm39)	V202D	possibly damaging	Het
Pabpc4	G	T	4: 123,182,861 (GRCm39)	R166L	possibly damaging	Het
Pcdhb8	A	G	18: 37,489,015 (GRCm39)	E231G	possibly damaging	Het
Ppp2r5e	C	G	12: 75,516,341 (GRCm39)	A239P	probably damaging	Het
Prdm15	G	T	16: 97,638,885 (GRCm39)	D58E	probably benign	Het
Rgl2	A	G	17: 34,151,122 (GRCm39)	T117A	probably benign	Het
Rp1	A	G	1: 4,418,943 (GRCm39)	I723T	probably damaging	Het
Serpina3g	A	G	12: 104,207,536 (GRCm39)	E233G	probably damaging	Het
Skint6	T	A	4: 112,749,187 (GRCm39)	S798C	probably benign	Het
Slc35f1	T	C	10: 52,898,000 (GRCm39)	L137P	possibly damaging	Het
Slc6a20a	T	C	9: 123,485,373 (GRCm39)	N246S	probably damaging	Het
Slc7a2	T	C	8: 41,369,534 (GRCm39)	L663S	probably benign	Het
Slco1a4	A	G	6: 141,761,173 (GRCm39)		probably null	Het
Slit2	A	G	5: 48,439,330 (GRCm39)	T41A	probably damaging	Het
Smc2	T	C	4: 52,450,863 (GRCm39)	I227T	probably damaging	Het
Smg1	A	G	7: 117,753,422 (GRCm39)		probably benign	Het
Ssu2	A	T	6: 112,361,388 (GRCm39)	L23M	probably benign	Het
Syne2	A	G	12: 76,141,053 (GRCm39)		probably null	Het
Tekt1	T	C	11: 72,242,761 (GRCm39)	T249A	probably benign	Het
Tfr2	T	C	5: 137,569,954 (GRCm39)	V120A	probably benign	Het
Thsd7b	C	T	1: 129,605,846 (GRCm39)	P529L	probably damaging	Het
Tll1	C	T	8: 64,478,141 (GRCm39)	D871N	probably damaging	Het
Tlr11	A	C	14: 50,598,664 (GRCm39)	I217L	probably benign	Het
Tmem87b	T	A	2: 128,673,479 (GRCm39)	V241D	probably damaging	Het
Tshz2	T	A	2: 169,727,465 (GRCm39)	I218N	possibly damaging	Het
Vmn1r18	A	T	6: 57,367,026 (GRCm39)	I176N	possibly damaging	Het
Vmn2r68	T	A	7: 84,883,260 (GRCm39)	H164L	probably benign	Het
Vmn2r74	T	C	7: 85,601,650 (GRCm39)	T663A	probably benign	Het
Vmn2r8	T	C	5: 108,945,436 (GRCm39)	T724A	probably benign	Het
Wdr11	T	C	7: 129,206,954 (GRCm39)	V289A	possibly damaging	Het
Zfp62	T	A	11: 49,107,047 (GRCm39)	D379E	probably damaging	Het
Zfp78	C	T	7: 6,381,897 (GRCm39)	P316S	probably damaging	Het
Zfyve27	T	G	19: 42,159,987 (GRCm39)	M1R	probably null	Het
Zkscan8	G	A	13: 21,709,325 (GRCm39)	P191L	probably damaging	Het

Other mutations in Pomgnt2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00596:Pomgnt2	APN	9	121,812,191 (GRCm39)	missense	probably benign	0.03
IGL01911:Pomgnt2	APN	9	121,811,854 (GRCm39)	missense	probably benign	0.05
IGL01943:Pomgnt2	APN	9	121,811,536 (GRCm39)	missense	probably benign	0.06
IGL02955:Pomgnt2	APN	9	121,811,956 (GRCm39)	missense	probably damaging	1.00
H8441:Pomgnt2	UTSW	9	121,811,650 (GRCm39)	missense	probably damaging	1.00
R0080:Pomgnt2	UTSW	9	121,811,326 (GRCm39)	missense	probably damaging	1.00
R0082:Pomgnt2	UTSW	9	121,811,326 (GRCm39)	missense	probably damaging	1.00
R0602:Pomgnt2	UTSW	9	121,811,339 (GRCm39)	missense	probably benign	0.02
R0715:Pomgnt2	UTSW	9	121,811,127 (GRCm39)	missense	probably damaging	1.00
R1491:Pomgnt2	UTSW	9	121,811,326 (GRCm39)	missense	probably damaging	1.00
R1909:Pomgnt2	UTSW	9	121,811,257 (GRCm39)	missense	possibly damaging	0.89
R2041:Pomgnt2	UTSW	9	121,811,354 (GRCm39)	missense	probably benign	0.00
R4428:Pomgnt2	UTSW	9	121,811,320 (GRCm39)	missense	possibly damaging	0.71
R4578:Pomgnt2	UTSW	9	121,812,131 (GRCm39)	missense	probably damaging	1.00
R4910:Pomgnt2	UTSW	9	121,812,013 (GRCm39)	missense	probably benign	0.19
R4937:Pomgnt2	UTSW	9	121,811,620 (GRCm39)	missense	probably benign	0.05
R5409:Pomgnt2	UTSW	9	121,811,303 (GRCm39)	missense	possibly damaging	0.71
R6090:Pomgnt2	UTSW	9	121,811,863 (GRCm39)	missense	probably damaging	1.00
R6596:Pomgnt2	UTSW	9	121,811,320 (GRCm39)	missense	possibly damaging	0.71
R7152:Pomgnt2	UTSW	9	121,812,589 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- ATCTGCAAAAGGTCCCAGGAG -3'
(R):5'- GTGGCTATTCCGAATCTACCAG -3'

Sequencing Primer
(F):5'- GGCTCCTGTTAAATATACAGCGGAC -3'
(R):5'- GGCTATTCCGAATCTACCAGGACAC -3'

Posted On

2014-06-30