Mutagenetix > Incidental Mutation

Incidental Mutation 'R0349:Ganab'

36128

Institutional Source

Beutler Lab

Gene Symbol

Ganab

Ensembl Gene

ENSMUSG00000071650

Gene Name

alpha glucosidase 2 alpha neutral subunit

Synonyms

G2an, GluII

MMRRC Submission

038556-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.920) question?

Stock #

R0349 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

8875435-8894036 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 8889016 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Lysine at position 572 (N572K)

Ref Sequence

ENSEMBL: ENSMUSP00000093965 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000096246]

AlphaFold

Q8BHN3

Predicted Effect

probably null
Transcript: ENSMUST00000096246
AA Change: N572K

PolyPhen 2 Score 0.108 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000093965
Gene: ENSMUSG00000071650
AA Change: N572K

Domain	Start	End	E-Value	Type
signal peptide	1	32	N/A	INTRINSIC
low complexity region	157	169	N/A	INTRINSIC
Pfam:Gal_mutarotas_2	275	346	3.9e-24	PFAM
Pfam:Glyco_hydro_31	387	832	8.7e-136	PFAM
low complexity region	888	898	N/A	INTRINSIC

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.1%
20x: 95.3%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes the alpha subunit of glucosidase II and a member of the glycosyl hydrolase 31 family of proteins. The heterodimeric enzyme glucosidase II plays a role in protein folding and quality control by cleaving glucose residues from immature glycoproteins in the endoplasmic reticulum. Expression of the encoded protein is elevated in lung tumor tissue and in response to UV irradiation. Mutations in this gene cause autosomal-dominant polycystic kidney and liver disease. [provided by RefSeq, Jul 2016]

Allele List at MGI

Other mutations in this stock

Total: 84 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A1cf	A	T	19: 31,910,062 (GRCm39)	S285C	possibly damaging	Het
Abcc9	A	T	6: 142,610,351 (GRCm39)	N604K	probably benign	Het
Acsbg3	T	A	17: 57,192,169 (GRCm39)	Y577*	probably null	Het
Adgrl3	A	G	5: 81,919,491 (GRCm39)	T1192A	probably damaging	Het
Aldh1l2	A	T	10: 83,326,478 (GRCm39)	Y800N	probably damaging	Het
Ano3	A	T	2: 110,491,832 (GRCm39)	V865D	probably damaging	Het
App	A	T	16: 84,810,568 (GRCm39)	L545Q	probably damaging	Het
Atp10a	A	G	7: 58,453,215 (GRCm39)	D798G	probably damaging	Het
B3galnt2	T	C	13: 14,166,059 (GRCm39)	V318A	probably benign	Het
Clcn3	T	A	8: 61,394,382 (GRCm39)	D49V	possibly damaging	Het
Clcn6	T	A	4: 148,108,651 (GRCm39)	K126M	possibly damaging	Het
Cntln	T	A	4: 84,914,722 (GRCm39)	S510T	probably damaging	Het
Csk	A	C	9: 57,535,477 (GRCm39)	C290W	probably damaging	Het
Dmxl1	T	A	18: 50,012,349 (GRCm39)	M1502K	probably damaging	Het
Dpy19l2	T	A	9: 24,607,218 (GRCm39)	N81I	possibly damaging	Het
Dpyd	T	A	3: 118,710,748 (GRCm39)	C385*	probably null	Het
Dst	G	A	1: 34,238,634 (GRCm39)	V1765I	probably benign	Het
Eif5b	A	G	1: 38,071,447 (GRCm39)	S459G	probably benign	Het
Fam83d	A	G	2: 158,621,768 (GRCm39)	I160V	possibly damaging	Het
Fat3	A	G	9: 15,942,476 (GRCm39)	F1299L	probably damaging	Het
Fmn1	A	G	2: 113,196,141 (GRCm39)	I614V	unknown	Het
Fsd1l	T	A	4: 53,679,854 (GRCm39)	V184E	probably damaging	Het
Fyco1	A	G	9: 123,626,727 (GRCm39)	V1328A	probably damaging	Het
Gbp10	T	A	5: 105,368,942 (GRCm39)	D299V	possibly damaging	Het
Gpr83	T	G	9: 14,779,563 (GRCm39)	L205R	probably damaging	Het
Hapln2	G	A	3: 87,930,936 (GRCm39)	P152S	probably damaging	Het
Htatip2	T	C	7: 49,423,140 (GRCm39)	Y232H	probably benign	Het
Itga2b	C	T	11: 102,358,252 (GRCm39)	V158I	probably damaging	Het
Kansl3	T	C	1: 36,390,864 (GRCm39)	D390G	probably damaging	Het
Kcnh2	T	C	5: 24,556,235 (GRCm39)	D16G	probably benign	Het
Kctd8	A	T	5: 69,498,353 (GRCm39)	F98I	probably damaging	Het
Kif21b	A	T	1: 136,077,049 (GRCm39)	E357V	probably damaging	Het
Kmt5c	C	T	7: 4,749,594 (GRCm39)	R371C	probably damaging	Het
Kndc1	T	C	7: 139,490,220 (GRCm39)	F241L	probably benign	Het
Lrba	A	G	3: 86,447,312 (GRCm39)	D2052G	probably damaging	Het
Lsr	T	A	7: 30,658,698 (GRCm39)	I54F	probably damaging	Het
Matk	G	T	10: 81,094,328 (GRCm39)	L28F	probably benign	Het
Mdn1	T	C	4: 32,750,318 (GRCm39)	L4429P	probably damaging	Het
Med29	CCTGCTGCTGCTGCTGC	CCTGCTGCTGCTGC	7: 28,091,935 (GRCm39)		probably benign	Het
Msln	G	T	17: 25,969,250 (GRCm39)	Q407K	possibly damaging	Het
Msr1	C	T	8: 40,034,868 (GRCm39)	G428R	probably damaging	Het
Myof	A	G	19: 37,899,417 (GRCm39)	I1040T	probably damaging	Het
Nckap5	A	G	1: 125,954,171 (GRCm39)	S794P	probably benign	Het
Nfkbiz	C	T	16: 55,639,354 (GRCm39)		probably null	Het
Nr2c1	C	T	10: 94,031,044 (GRCm39)	S535L	probably damaging	Het
Opn3	A	C	1: 175,519,870 (GRCm39)	L78R	probably damaging	Het
Or11h4b	G	A	14: 50,918,711 (GRCm39)	R127C	probably benign	Het
Or52n3	A	T	7: 104,530,199 (GRCm39)	D95V	possibly damaging	Het
Or5b12	A	T	19: 12,897,299 (GRCm39)	C125S	probably damaging	Het
Otulinl	T	A	15: 27,664,876 (GRCm39)	I27L	probably benign	Het
Pcdhb9	A	G	18: 37,535,632 (GRCm39)	N542S	probably damaging	Het
Pdc	T	A	1: 150,209,178 (GRCm39)	N220K	probably benign	Het
Pde6c	A	T	19: 38,150,797 (GRCm39)	N569Y	probably damaging	Het
Pgm1	A	T	4: 99,820,814 (GRCm39)	K219M	probably damaging	Het
Pitpnb	C	T	5: 111,494,992 (GRCm39)	T99M	possibly damaging	Het
Pou6f2	T	A	13: 18,326,589 (GRCm39)	Q71L	probably damaging	Het
Pramel24	T	G	4: 143,453,629 (GRCm39)	W246G	probably benign	Het
Prkd1	C	A	12: 50,413,139 (GRCm39)	L677F	probably damaging	Het
Ranbp17	T	C	11: 33,450,689 (GRCm39)	I78V	probably benign	Het
Rnft2	T	A	5: 118,339,450 (GRCm39)	K362M	possibly damaging	Het
Rprd1a	T	A	18: 24,639,904 (GRCm39)	E259V	possibly damaging	Het
Scara3	A	T	14: 66,169,230 (GRCm39)	I129N	probably damaging	Het
Scgb1a1	A	T	19: 9,062,753 (GRCm39)		probably null	Het
Sec16b	A	T	1: 157,359,746 (GRCm39)		probably null	Het
Slc18a1	A	T	8: 69,524,753 (GRCm39)	M167K	probably damaging	Het
Slc6a15	C	T	10: 103,254,086 (GRCm39)	A674V	probably benign	Het
Slc6a3	T	C	13: 73,715,676 (GRCm39)	F437S	probably damaging	Het
Snrnp40	C	G	4: 130,271,836 (GRCm39)		probably null	Het
Stag1	T	A	9: 100,658,837 (GRCm39)	N141K	probably damaging	Het
Sun2	T	C	15: 79,614,433 (GRCm39)	E321G	probably damaging	Het
Taar2	C	A	10: 23,817,327 (GRCm39)	T289K	possibly damaging	Het
Taar2	T	C	10: 23,817,407 (GRCm39)	Y316H	probably benign	Het
Tbcd	T	A	11: 121,493,809 (GRCm39)		probably null	Het
Tecr	G	A	8: 84,298,904 (GRCm39)	T106I	probably damaging	Het
Thoc2l	T	C	5: 104,667,842 (GRCm39)	L788P	possibly damaging	Het
Tmem60	T	G	5: 21,091,628 (GRCm39)	V131G	probably benign	Het
Uimc1	A	G	13: 55,223,804 (GRCm39)	V156A	probably benign	Het
Usp28	G	A	9: 48,921,581 (GRCm39)	W266*	probably null	Het
Vmn2r17	T	A	5: 109,576,202 (GRCm39)	S358T	probably damaging	Het
Wwc2	T	A	8: 48,321,701 (GRCm39)	Y471F	unknown	Het
Ythdc1	C	T	5: 86,983,579 (GRCm39)	R675C	probably damaging	Het
Zfp30	T	C	7: 29,493,029 (GRCm39)	S428P	probably damaging	Het
Zfp462	T	A	4: 55,008,768 (GRCm39)	C245S	probably benign	Het
Zscan30	T	C	18: 24,104,455 (GRCm39)		noncoding transcript	Het

Other mutations in Ganab

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00158:Ganab	APN	19	8,879,959 (GRCm39)	missense	probably benign
IGL00434:Ganab	APN	19	8,884,707 (GRCm39)	missense	probably damaging	1.00
IGL01415:Ganab	APN	19	8,892,058 (GRCm39)	splice site	probably benign
IGL02418:Ganab	APN	19	8,888,433 (GRCm39)	missense	probably null	0.97
IGL02886:Ganab	APN	19	8,888,391 (GRCm39)	splice site	probably benign
IGL02997:Ganab	APN	19	8,892,776 (GRCm39)	missense	probably benign	0.00
IGL03108:Ganab	APN	19	8,889,840 (GRCm39)	missense	probably damaging	1.00
R0240:Ganab	UTSW	19	8,890,177 (GRCm39)	missense	possibly damaging	0.58
R0240:Ganab	UTSW	19	8,890,177 (GRCm39)	missense	possibly damaging	0.58
R0457:Ganab	UTSW	19	8,884,614 (GRCm39)	missense	possibly damaging	0.92
R0551:Ganab	UTSW	19	8,884,644 (GRCm39)	missense	probably benign	0.35
R0645:Ganab	UTSW	19	8,888,477 (GRCm39)	missense	probably damaging	1.00
R0652:Ganab	UTSW	19	8,892,766 (GRCm39)	critical splice acceptor site	probably null
R0688:Ganab	UTSW	19	8,888,477 (GRCm39)	missense	probably damaging	1.00
R0726:Ganab	UTSW	19	8,888,477 (GRCm39)	missense	probably damaging	1.00
R1427:Ganab	UTSW	19	8,893,030 (GRCm39)	missense	probably benign	0.00
R1946:Ganab	UTSW	19	8,888,172 (GRCm39)	missense	probably damaging	1.00
R1955:Ganab	UTSW	19	8,888,980 (GRCm39)	nonsense	probably null
R2173:Ganab	UTSW	19	8,879,624 (GRCm39)	unclassified	probably benign
R2280:Ganab	UTSW	19	8,886,832 (GRCm39)	missense	probably damaging	1.00
R2281:Ganab	UTSW	19	8,886,832 (GRCm39)	missense	probably damaging	1.00
R4897:Ganab	UTSW	19	8,892,355 (GRCm39)	missense	probably benign	0.07
R5224:Ganab	UTSW	19	8,887,955 (GRCm39)	missense	probably benign	0.35
R5269:Ganab	UTSW	19	8,889,301 (GRCm39)	missense	probably damaging	1.00
R5323:Ganab	UTSW	19	8,886,049 (GRCm39)	missense	probably benign	0.00
R5850:Ganab	UTSW	19	8,889,071 (GRCm39)	missense	probably damaging	1.00
R6469:Ganab	UTSW	19	8,879,996 (GRCm39)	critical splice donor site	probably null
R6911:Ganab	UTSW	19	8,885,152 (GRCm39)	splice site	probably null
R7284:Ganab	UTSW	19	8,889,904 (GRCm39)	missense	probably damaging	1.00
R7412:Ganab	UTSW	19	8,889,892 (GRCm39)	missense	probably benign	0.01
R7413:Ganab	UTSW	19	8,882,339 (GRCm39)	missense	probably benign	0.01
R7466:Ganab	UTSW	19	8,891,933 (GRCm39)	nonsense	probably null
R7586:Ganab	UTSW	19	8,888,716 (GRCm39)	missense	possibly damaging	0.76
R7657:Ganab	UTSW	19	8,884,721 (GRCm39)	missense	probably damaging	0.99
R7671:Ganab	UTSW	19	8,890,216 (GRCm39)	missense	possibly damaging	0.94
R7729:Ganab	UTSW	19	8,892,076 (GRCm39)	missense	probably benign	0.24
R8223:Ganab	UTSW	19	8,888,192 (GRCm39)	missense	probably damaging	1.00
R8873:Ganab	UTSW	19	8,888,243 (GRCm39)	nonsense	probably null
R9264:Ganab	UTSW	19	8,890,228 (GRCm39)	missense	possibly damaging	0.81
R9388:Ganab	UTSW	19	8,892,302 (GRCm39)	missense	probably damaging	1.00
R9447:Ganab	UTSW	19	8,886,894 (GRCm39)	missense	probably damaging	0.99
R9450:Ganab	UTSW	19	8,893,076 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CAGCTTTTCAGTTCAGGACCATTGC -3'
(R):5'- TCAGGACAAAGGGACGCTCTATGC -3'

Sequencing Primer
(F):5'- GACCTATAACATTTCGTGGGGAC -3'
(R):5'- GTATTAGCCCATCAGCAGTCG -3'

Posted On

2013-05-09