Mutagenetix > Incidental Mutation

Incidental Mutation 'R0240:Ganab'

59366

Institutional Source

Beutler Lab

Gene Symbol

Ganab

Ensembl Gene

ENSMUSG00000071650

Gene Name

alpha glucosidase 2 alpha neutral subunit

Synonyms

G2an, GluII

MMRRC Submission

038478-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.937) question?

Stock #

R0240 (G1)

Quality Score

200

Status

Validated

Chromosome

Chromosomal Location

8875435-8894036 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 8890177 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 702 (D702G)

Ref Sequence

ENSEMBL: ENSMUSP00000093965 (fasta)

Gene Model

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

AlphaFold

Q8BHN3

Predicted Effect

possibly damaging
Transcript: ENSMUST00000096246
AA Change: D702G

PolyPhen 2 Score 0.578 (Sensitivity: 0.88; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000093965
Gene: ENSMUSG00000071650
AA Change: D702G

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

Meta Mutation Damage Score

0.3511

Coding Region Coverage

1x: 99.4%
3x: 98.9%
10x: 97.6%
20x: 95.3%

Validation Efficiency

100% (112/112)

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: 110 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acsf3	T	C	8: 123,506,920 (GRCm39)	L71P	probably damaging	Het
Adamts2	A	T	11: 50,666,201 (GRCm39)	D399V	probably damaging	Het
Adck2	T	A	6: 39,560,752 (GRCm39)	V380E	probably benign	Het
Alg11	T	A	8: 22,555,468 (GRCm39)	V243D	possibly damaging	Het
Ankrd27	T	A	7: 35,318,864 (GRCm39)	L585Q	probably damaging	Het
Armh4	A	G	14: 50,005,859 (GRCm39)		probably benign	Het
Atp7a	T	A	X: 105,153,447 (GRCm39)	N1117K	probably damaging	Het
Bltp3a	T	A	17: 28,114,844 (GRCm39)		probably benign	Het
Cacna1b	G	A	2: 24,528,669 (GRCm39)		probably benign	Het
Cacna1d	T	A	14: 29,818,926 (GRCm39)	M1210L	probably benign	Het
Cacna1s	T	C	1: 136,001,234 (GRCm39)		probably benign	Het
Chd7	T	C	4: 8,852,670 (GRCm39)		probably benign	Het
Col12a1	A	T	9: 79,559,315 (GRCm39)	S1858T	probably benign	Het
Cotl1	C	T	8: 120,567,063 (GRCm39)	W26*	probably null	Het
Csmd3	T	C	15: 47,492,635 (GRCm39)	T3000A	probably benign	Het
Dcp1a	T	A	14: 30,206,551 (GRCm39)		probably benign	Het
Ddhd2	A	T	8: 26,229,617 (GRCm39)		probably null	Het
Dnah8	T	C	17: 30,984,653 (GRCm39)	I3117T	probably damaging	Het
Dnm3	G	T	1: 162,181,194 (GRCm39)	Q162K	probably benign	Het
Dpy19l2	G	T	9: 24,569,876 (GRCm39)	A359D	probably damaging	Het
Ece1	T	A	4: 137,676,746 (GRCm39)		probably benign	Het
Eif4g3	A	G	4: 137,897,873 (GRCm39)	K1025R	probably damaging	Het
Eml2	C	A	7: 18,918,797 (GRCm39)	Y82*	probably null	Het
Eml6	A	G	11: 29,742,367 (GRCm39)	V1057A	possibly damaging	Het
Eral1	A	G	11: 77,966,884 (GRCm39)		probably benign	Het
Espl1	T	C	15: 102,220,976 (GRCm39)	S911P	probably benign	Het
Fbxo8	A	G	8: 57,043,296 (GRCm39)		probably benign	Het
Flrt1	A	T	19: 7,074,475 (GRCm39)		probably benign	Het
Fndc7	A	G	3: 108,766,235 (GRCm39)		probably benign	Het
G3bp1	G	A	11: 55,382,854 (GRCm39)	G139D	probably damaging	Het
Gabra6	C	T	11: 42,205,774 (GRCm39)	V351I	probably benign	Het
Galc	A	T	12: 98,218,293 (GRCm39)	H186Q	probably damaging	Het
Hdac10	T	C	15: 89,010,085 (GRCm39)	E291G	possibly damaging	Het
Hectd3	T	G	4: 116,859,810 (GRCm39)	V749G	probably damaging	Het
Kash5	C	T	7: 44,849,675 (GRCm39)	A83T	probably benign	Het
Kcnh1	T	A	1: 192,187,648 (GRCm39)	I703N	probably benign	Het
Kcnma1	G	A	14: 23,544,647 (GRCm39)	T505I	probably damaging	Het
Kctd11	A	G	11: 69,770,640 (GRCm39)	C133R	probably damaging	Het
Lama3	A	T	18: 12,672,880 (GRCm39)		probably null	Het
Lamb3	T	C	1: 193,017,335 (GRCm39)	L842P	probably damaging	Het
Ldlr	T	C	9: 21,649,295 (GRCm39)		probably benign	Het
Lipk	G	A	19: 34,024,210 (GRCm39)	R336H	probably benign	Het
Lrrc24	T	A	15: 76,607,409 (GRCm39)	D58V	probably damaging	Het
Lrsam1	A	G	2: 32,845,197 (GRCm39)	L106P	probably damaging	Het
Milr1	G	A	11: 106,645,722 (GRCm39)	W88*	probably null	Het
Mmp10	A	G	9: 7,506,544 (GRCm39)	D340G	probably damaging	Het
Mybpc1	T	A	10: 88,391,600 (GRCm39)	Y285F	possibly damaging	Het
Ncoa3	A	G	2: 165,896,320 (GRCm39)	T408A	probably benign	Het
Nefm	T	A	14: 68,358,583 (GRCm39)	K484*	probably null	Het
Nfasc	A	G	1: 132,529,721 (GRCm39)	S814P	probably damaging	Het
Nlrp4a	T	C	7: 26,161,941 (GRCm39)	V863A	probably benign	Het
Nos1	C	T	5: 118,005,948 (GRCm39)	P223S	probably benign	Het
Nr2f2	G	C	7: 70,009,923 (GRCm39)	P52R	probably damaging	Het
Or13c7	T	A	4: 43,854,512 (GRCm39)	S68T	probably damaging	Het
Or4c108	A	T	2: 88,803,740 (GRCm39)	L165Q	probably damaging	Het
Or5an6	A	T	19: 12,372,327 (GRCm39)	E233D	probably benign	Het
Or8k41	A	G	2: 86,313,730 (GRCm39)	S119P	possibly damaging	Het
Osbpl5	T	C	7: 143,295,406 (GRCm39)		probably null	Het
Otog	C	A	7: 45,913,456 (GRCm39)		probably null	Het
Pacs1	A	T	19: 5,206,402 (GRCm39)	I261N	possibly damaging	Het
Pbx1	G	A	1: 168,031,051 (GRCm39)	T189I	possibly damaging	Het
Pcnx1	T	C	12: 81,993,792 (GRCm39)	I908T	possibly damaging	Het
Pdxdc1	A	T	16: 13,697,309 (GRCm39)	W124R	probably damaging	Het
Phex	C	A	X: 155,969,214 (GRCm39)	D587Y	probably damaging	Het
Plcb3	A	T	19: 6,940,363 (GRCm39)	D435E	probably benign	Het
Plce1	A	C	19: 38,717,330 (GRCm39)	K1373T	probably damaging	Het
Prkcd	G	A	14: 30,324,045 (GRCm39)	A311V	probably damaging	Het
Ptpn3	A	T	4: 57,232,374 (GRCm39)	S421T	probably benign	Het
Ptprs	T	C	17: 56,743,087 (GRCm39)		probably null	Het
Qrich1	A	G	9: 108,411,333 (GRCm39)	D286G	probably damaging	Het
Rcc1	C	A	4: 132,060,226 (GRCm39)	G393V	probably damaging	Het
Reln	T	C	5: 22,311,043 (GRCm39)	N290S	probably benign	Het
Rgl1	T	C	1: 152,430,175 (GRCm39)		probably benign	Het
Rhpn1	C	T	15: 75,585,971 (GRCm39)	T628I	probably benign	Het
Rilp	A	G	11: 75,401,747 (GRCm39)	R176G	probably benign	Het
Riok3	C	T	18: 12,288,284 (GRCm39)	A487V	probably benign	Het
Rnf224	T	C	2: 25,126,219 (GRCm39)	T45A	probably damaging	Het
Rpa1	A	G	11: 75,219,513 (GRCm39)	V137A	probably benign	Het
Rps6ka1	C	A	4: 133,575,842 (GRCm39)	Q693H	probably benign	Het
Scn2a	G	T	2: 65,566,118 (GRCm39)	V1381F	probably benign	Het
Scp2	T	A	4: 107,955,275 (GRCm39)	H112L	probably benign	Het
Sdk1	T	C	5: 141,984,502 (GRCm39)	W696R	probably damaging	Het
Slc26a7	C	A	4: 14,532,651 (GRCm39)	V408F	probably damaging	Het
Slc28a2	T	A	2: 122,285,008 (GRCm39)	I332N	probably benign	Het
Slc37a3	A	G	6: 39,314,172 (GRCm39)	V480A	probably benign	Het
Slc45a4	T	A	15: 73,453,755 (GRCm39)	E674D	probably benign	Het
Smpd3	T	C	8: 106,991,788 (GRCm39)	E255G	probably damaging	Het
Snx29	C	T	16: 11,478,417 (GRCm39)	R658W	probably damaging	Het
Sppl2a	A	T	2: 126,762,256 (GRCm39)	M275K	probably benign	Het
Stac	T	C	9: 111,464,089 (GRCm39)	N59S	probably damaging	Het
Stk25	A	T	1: 93,554,782 (GRCm39)	L131Q	probably damaging	Het
Tep1	C	T	14: 51,100,486 (GRCm39)		probably benign	Het
Thbs1	C	A	2: 117,944,874 (GRCm39)	N229K	probably damaging	Het
Tmx2	A	T	2: 84,506,186 (GRCm39)	H89Q	probably damaging	Het
Tnfrsf21	C	T	17: 43,349,104 (GRCm39)	H239Y	probably benign	Het
Tradd	T	C	8: 105,985,924 (GRCm39)	N209S	possibly damaging	Het
Trappc3l	A	T	10: 33,974,928 (GRCm39)	R119*	probably null	Het
Trmt1l	G	A	1: 151,333,205 (GRCm39)		probably benign	Het
Ublcp1	G	T	11: 44,349,104 (GRCm39)	Y243*	probably null	Het
Usp24	C	A	4: 106,271,601 (GRCm39)	C2158*	probably null	Het
Usp34	A	T	11: 23,383,206 (GRCm39)	K2088N	probably damaging	Het
Vmn1r53	G	C	6: 90,200,925 (GRCm39)	S133C	probably damaging	Het
Vmn2r52	A	G	7: 9,893,327 (GRCm39)	V604A	probably damaging	Het
Vmn2r93	A	G	17: 18,525,061 (GRCm39)	K240E	probably benign	Het
Wdr13	T	G	X: 7,994,284 (GRCm39)	D242A	probably damaging	Het
Wwp1	C	T	4: 19,641,734 (GRCm39)		probably null	Het
Zan	G	A	5: 137,396,624 (GRCm39)	H4311Y	unknown	Het
Zc3h12c	C	A	9: 52,055,383 (GRCm39)	R123L	possibly damaging	Het
Zfp125	A	T	12: 20,950,562 (GRCm39)		noncoding transcript	Het
Zfp318	C	T	17: 46,707,739 (GRCm39)	P266S	probably benign	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
R0349:Ganab	UTSW	19	8,889,016 (GRCm39)	missense	probably null	0.11
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'- AAGATCTCTATCCCTATGTGTCTCAGCC -3'
(R):5'- GTCATCTATCTGACTCTACACAGACCCC -3'

Sequencing Primer
(F):5'- TGTCTCAGCCTGGCACTG -3'
(R):5'- CACTGACTAATTTACCTCATGACAGG -3'

Posted On

2013-07-11