Mutagenetix > Incidental Mutation

Incidental Mutation 'R4578:Pomgnt2'

343427

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

041800-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R4578 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

121810675-121825116 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 121812131 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Cysteine at position 217 (R217C)

Ref Sequence

ENSEMBL: ENSMUSP00000149753 (fasta)

Gene Model

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

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

probably damaging
Transcript: ENSMUST00000084743
AA Change: R217C

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000095868
Gene: ENSMUSG00000066235
AA Change: R217C

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 damaging
Transcript: ENSMUST00000217610
AA Change: R217C

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

Predicted Effect

probably damaging
Transcript: ENSMUST00000216669
AA Change: R217C

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

Predicted Effect

probably benign
Transcript: ENSMUST00000215084

Predicted Effect

probably benign
Transcript: ENSMUST00000215990

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.2%
20x: 95.2%

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: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930522L14Rik	A	T	5: 109,884,537 (GRCm39)	Y440*	probably null	Het
Aldh3b3	A	T	19: 4,014,832 (GRCm39)	T110S	probably benign	Het
Atp2b2	T	C	6: 113,737,672 (GRCm39)	T901A	probably damaging	Het
Auts2	C	T	5: 132,287,773 (GRCm39)	G70E	probably benign	Het
Bfar	A	T	16: 13,505,307 (GRCm39)	I106F	probably benign	Het
Btbd10	T	G	7: 112,921,959 (GRCm39)	I301L	possibly damaging	Het
Card14	G	A	11: 119,217,567 (GRCm39)	R400H	probably benign	Het
Ccdc80	A	G	16: 44,915,849 (GRCm39)	R202G	probably damaging	Het
Cimip2a	T	C	2: 25,110,300 (GRCm39)	S71P	probably benign	Het
Cmtm7	A	C	9: 114,592,351 (GRCm39)	I82S	probably benign	Het
Cngb3	T	A	4: 19,425,613 (GRCm39)	W474R	probably damaging	Het
Coq9	T	C	8: 95,580,234 (GRCm39)	V285A	probably benign	Het
Cp	A	G	3: 20,028,052 (GRCm39)	E486G	probably damaging	Het
Crybg3	C	T	16: 59,350,564 (GRCm39)	C892Y	probably damaging	Het
Cttn	A	T	7: 144,008,453 (GRCm39)	F176L	probably damaging	Het
Cytip	T	A	2: 58,050,024 (GRCm39)	N15I	possibly damaging	Het
Dgkb	A	G	12: 38,477,492 (GRCm39)	E634G	possibly damaging	Het
Duox1	A	G	2: 122,164,258 (GRCm39)	E906G	probably benign	Het
Efcab6	A	T	15: 83,817,369 (GRCm39)	S735T	probably benign	Het
Elfn1	T	C	5: 139,957,808 (GRCm39)	S271P	probably benign	Het
Ep300	T	C	15: 81,533,210 (GRCm39)	S1756P	unknown	Het
Ep300	T	A	15: 81,495,611 (GRCm39)		probably benign	Het
Ercc5	T	A	1: 44,187,308 (GRCm39)	V29E	probably benign	Het
Frmd4a	C	A	2: 4,608,490 (GRCm39)	A786E	possibly damaging	Het
Ftcd	A	C	10: 76,425,092 (GRCm39)	E524D	probably benign	Het
Gfod2	T	C	8: 106,454,878 (GRCm39)	M1V	probably null	Het
Gm12790	T	C	4: 101,825,324 (GRCm39)	D30G	probably benign	Het
Gsta4	A	T	9: 78,113,302 (GRCm39)	R127S	probably benign	Het
Hcn2	G	A	10: 79,560,282 (GRCm39)		probably null	Het
Hectd1	A	G	12: 51,798,715 (GRCm39)	V2135A	probably damaging	Het
Hoxc6	A	G	15: 102,918,093 (GRCm39)	D19G	probably benign	Het
Hydin	A	T	8: 110,993,971 (GRCm39)	T2S	unknown	Het
Ifna14	A	T	4: 88,489,747 (GRCm39)	S97T	possibly damaging	Het
Igkv17-127	T	C	6: 67,838,183 (GRCm39)	L14P	unknown	Het
Il17rb	A	G	14: 29,724,356 (GRCm39)	V166A	probably damaging	Het
Iqca1	T	A	1: 90,001,472 (GRCm39)	I520F	probably damaging	Het
Kcnv2	G	T	19: 27,300,994 (GRCm39)	V282L	probably benign	Het
Klk12	A	G	7: 43,422,667 (GRCm39)	D198G	probably damaging	Het
Kntc1	T	G	5: 123,904,018 (GRCm39)	L345R	probably damaging	Het
Lrfn5	A	G	12: 61,890,763 (GRCm39)	D684G	probably benign	Het
Mef2a	T	C	7: 66,890,187 (GRCm39)	N131S	probably benign	Het
Mis18bp1	T	C	12: 65,200,655 (GRCm39)	Y124C	probably damaging	Het
Mplkipl1	C	T	19: 61,164,364 (GRCm39)	G24R	unknown	Het
Myh2	T	A	11: 67,064,084 (GRCm39)	V48D	possibly damaging	Het
Nat10	A	G	2: 103,584,417 (GRCm39)	M120T	probably damaging	Het
Nf1	T	C	11: 79,336,585 (GRCm39)	S1065P	probably damaging	Het
Nfib	A	T	4: 82,215,048 (GRCm39)	S518R	probably damaging	Het
Pced1a	A	C	2: 130,264,596 (GRCm39)	L78R	probably damaging	Het
Peli3	T	C	19: 4,984,486 (GRCm39)	D192G	probably benign	Het
Plb1	C	T	5: 32,404,901 (GRCm39)	Q20*	probably null	Het
Ptprd	C	T	4: 76,162,023 (GRCm39)	V78I	possibly damaging	Het
Rngtt	A	G	4: 33,339,050 (GRCm39)	E285G	probably benign	Het
Sclt1	G	A	3: 41,625,900 (GRCm39)	Q356*	probably null	Het
Scn2b	T	C	9: 45,037,460 (GRCm39)	F169S	possibly damaging	Het
Sfta2	C	T	17: 35,960,775 (GRCm39)		probably benign	Het
Srpra	T	C	9: 35,125,904 (GRCm39)	I394T	possibly damaging	Het
Sspo	A	C	6: 48,440,307 (GRCm39)	D1541A	possibly damaging	Het
Strc	G	A	2: 121,208,484 (GRCm39)	L296F	possibly damaging	Het
Svop	C	T	5: 114,203,743 (GRCm39)	V13M	probably damaging	Het
Taf6l	C	A	19: 8,761,335 (GRCm39)	R10L	possibly damaging	Het
Tbx3	G	T	5: 119,820,841 (GRCm39)	R617L	probably damaging	Het
Tnrc6a	A	G	7: 122,783,444 (GRCm39)	R1471G	possibly damaging	Het
Togaram1	T	C	12: 65,067,100 (GRCm39)	L1714P	probably damaging	Het
Traf3ip2	A	G	10: 39,510,650 (GRCm39)	N308D	probably damaging	Het
Trim30b	T	C	7: 104,006,538 (GRCm39)	Y106C	possibly damaging	Het
Vcp	A	T	4: 42,984,565 (GRCm39)	M442K	probably benign	Het
Vmn2r16	A	T	5: 109,511,665 (GRCm39)	Y624F	possibly damaging	Het
Vmn2r52	A	T	7: 9,904,617 (GRCm39)	H407Q	probably damaging	Het
Vps13a	A	T	19: 16,659,474 (GRCm39)	D1684E	probably damaging	Het
Wdr49	T	C	3: 75,242,550 (GRCm39)	M380V	probably benign	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
R1908:Pomgnt2	UTSW	9	121,811,257 (GRCm39)	missense	possibly damaging	0.89
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
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'- TCAGCCTTTCAGTCATGAAGCG -3'
(R):5'- CATGCCAAAGCCAGTGTTCG -3'

Sequencing Primer
(F):5'- TTTCAGTCATGAAGCGCGTGAAC -3'
(R):5'- AAAGCCAGTGTTCGTGCCTG -3'

Posted On

2015-09-24