Mutagenetix > Incidental Mutation

Incidental Mutation 'R8223:Ganab'

636861

Institutional Source

Beutler Lab

Gene Symbol

Ganab

Ensembl Gene

ENSMUSG00000071650

Gene Name

alpha glucosidase 2 alpha neutral subunit

Synonyms

G2an, GluII

MMRRC Submission

067641-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.920) question?

Stock #

R8223 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

8875435-8894036 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 8888192 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Valine at position 446 (D446V)

Ref Sequence

ENSEMBL: ENSMUSP00000093965 (fasta)

Gene Model

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

AlphaFold

Q8BHN3

Predicted Effect

probably damaging
Transcript: ENSMUST00000096246
AA Change: D446V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000093965
Gene: ENSMUSG00000071650
AA Change: D446V

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: 99.9%
3x: 99.8%
10x: 99.4%
20x: 98.2%

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: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgre1	T	A	17: 57,668,692 (GRCm39)	W18R	probably damaging	Het
Alms1	T	A	6: 85,620,222 (GRCm39)	Y2417*	probably null	Het
Apold1	T	A	6: 134,961,148 (GRCm39)	S201T	probably benign	Het
Arhgap31	G	A	16: 38,424,084 (GRCm39)	P661S	probably benign	Het
Cacfd1	T	C	2: 26,908,396 (GRCm39)	V110A	possibly damaging	Het
Capn2	A	G	1: 182,310,099 (GRCm39)		probably null	Het
Chadl	T	C	15: 81,579,335 (GRCm39)	E98G	possibly damaging	Het
Crxos	T	C	7: 15,631,394 (GRCm39)	Y31H	probably benign	Het
Cyp4f14	A	C	17: 33,130,627 (GRCm39)		probably null	Het
Cyp4f39	T	C	17: 32,689,839 (GRCm39)	I95T	probably benign	Het
Dars1	T	C	1: 128,299,961 (GRCm39)	E341G	probably benign	Het
Dchs1	G	T	7: 105,411,824 (GRCm39)	R1431S	possibly damaging	Het
Dop1a	T	A	9: 86,400,345 (GRCm39)	H1001Q	probably damaging	Het
Efemp1	T	C	11: 28,804,528 (GRCm39)	Y19H	probably benign	Het
Eml1	T	G	12: 108,502,569 (GRCm39)	F726V	probably benign	Het
Fdx1	A	T	9: 51,859,921 (GRCm39)	D136E	probably benign	Het
Gusb	A	G	5: 130,018,953 (GRCm39)	V561A	probably benign	Het
Hcn1	A	T	13: 118,010,406 (GRCm39)	D328V	unknown	Het
Hdgfl1	A	G	13: 26,954,047 (GRCm39)	Y9H	probably damaging	Het
Hes3	T	A	4: 152,371,572 (GRCm39)	S101C	probably damaging	Het
Igkv2-112	T	C	6: 68,197,579 (GRCm39)	S84P	probably benign	Het
Ints9	C	T	14: 65,257,809 (GRCm39)	P330S	possibly damaging	Het
Kdm7a	A	T	6: 39,126,235 (GRCm39)	N583K	probably damaging	Het
Klhl10	C	T	11: 100,338,227 (GRCm39)	T322M	probably damaging	Het
Kmt2c	A	T	5: 25,529,216 (GRCm39)	V1545D	possibly damaging	Het
Laptm5	T	C	4: 130,653,511 (GRCm39)		probably null	Het
Ldlr	A	G	9: 21,658,546 (GRCm39)	T833A	probably damaging	Het
Llgl1	G	T	11: 60,593,648 (GRCm39)	L40F	possibly damaging	Het
Lrrc14	T	C	15: 76,598,756 (GRCm39)	L464S	probably damaging	Het
Lrrc38	G	A	4: 143,077,303 (GRCm39)	G189R	probably damaging	Het
Lysmd3	T	A	13: 81,817,386 (GRCm39)	L121H		Het
Map2	T	C	1: 66,464,649 (GRCm39)	S1680P	probably damaging	Het
Med12l	T	C	3: 58,993,784 (GRCm39)	V583A	possibly damaging	Het
Mfsd4b5	A	G	10: 39,846,246 (GRCm39)	Y445H	probably damaging	Het
Morf4l1	G	A	9: 89,979,475 (GRCm39)	P169S	probably benign	Het
Nab2	C	A	10: 127,498,645 (GRCm39)	V475L	probably benign	Het
Ola1	A	G	2: 72,929,694 (GRCm39)	L303P	probably damaging	Het
Or1j19	T	A	2: 36,677,409 (GRCm39)	Y291N		Het
Or1o2	T	C	17: 37,542,727 (GRCm39)	D178G	possibly damaging	Het
Or7e166	T	C	9: 19,624,705 (GRCm39)	I194T	probably benign	Het
Or9i2	G	T	19: 13,816,225 (GRCm39)	T104K	probably damaging	Het
Pdlim3	A	T	8: 46,353,562 (GRCm39)	H99L	possibly damaging	Het
Plagl2	G	T	2: 153,073,461 (GRCm39)	T480N	probably benign	Het
Pramel20	T	G	4: 143,298,530 (GRCm39)	Y158D	probably benign	Het
Ptprq	C	T	10: 107,535,499 (GRCm39)	R422Q	probably benign	Het
Rad18	T	A	6: 112,664,982 (GRCm39)	R51*	probably null	Het
Rpap3	T	A	15: 97,589,185 (GRCm39)	T250S	probably benign	Het
Serpinb11	T	C	1: 107,305,262 (GRCm39)	Y213H	probably benign	Het
Slc15a4	A	G	5: 127,686,080 (GRCm39)	F201L	possibly damaging	Het
Slc25a4	A	G	8: 46,663,896 (GRCm39)	S22P	probably damaging	Het
Slfn1	T	A	11: 83,012,245 (GRCm39)	N120K	probably damaging	Het
Smok3c	T	C	5: 138,063,655 (GRCm39)	S381P	probably benign	Het
Sry	T	A	Y: 2,663,204 (GRCm39)	Q152L	unknown	Het
Taar2	T	A	10: 23,817,248 (GRCm39)	W263R	probably damaging	Het
Thnsl1	T	A	2: 21,216,924 (GRCm39)	V226E	probably benign	Het
Tmeff2	T	C	1: 51,172,279 (GRCm39)		probably null	Het
Tox	A	G	4: 6,842,408 (GRCm39)	Y41H	probably damaging	Het
Trank1	T	A	9: 111,194,957 (GRCm39)	Y994N	probably damaging	Het
Trim9	C	T	12: 70,297,789 (GRCm39)	A713T	probably damaging	Het
Tub	T	A	7: 108,628,533 (GRCm39)	M393K	probably benign	Het
Ube4a	A	G	9: 44,871,333 (GRCm39)	L22P	possibly damaging	Het
Usp47	A	G	7: 111,703,583 (GRCm39)	K1165R	probably damaging	Het
Usp6nl	T	A	2: 6,435,327 (GRCm39)	I362K	probably damaging	Het
Vmn1r217	T	C	13: 23,298,369 (GRCm39)	I178V	probably benign	Het
Vmn1r45	T	A	6: 89,910,074 (GRCm39)	T299S	probably damaging	Het
Vmn2r5	A	T	3: 64,398,726 (GRCm39)	L751*	probably null	Het
Xkr8	G	A	4: 132,458,246 (GRCm39)	P144L	probably damaging	Het
Zfpm2	T	C	15: 40,616,355 (GRCm39)	I35T	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
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
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'- TGCTAGTCTCACAGGTAGGTG -3'
(R):5'- AATGGTGGAGACTACCATGC -3'

Sequencing Primer
(F):5'- CATTTCTGGCTAGCAAGTGC -3'
(R):5'- GGTGGAGACTACCATGCCTCAAC -3'

Posted On

2020-07-13