Mutagenetix > Incidental Mutation

Incidental Mutation 'R5005:Magi2'

390135

Institutional Source

Beutler Lab

Gene Symbol

Magi2

Ensembl Gene

ENSMUSG00000040003

Gene Name

membrane associated guanylate kinase, WW and PDZ domain containing 2

Synonyms

Acvrinp1, Magi-2, S-SCAM

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R5005 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

19432034-20909790 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 20739444 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 729 (D729G)

Ref Sequence

ENSEMBL: ENSMUSP00000142764 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000088516] [ENSMUST00000101558] [ENSMUST00000115267] [ENSMUST00000197354] [ENSMUST00000197443] [ENSMUST00000197553] [ENSMUST00000208219]

AlphaFold

Q9WVQ1

Predicted Effect

probably benign
Transcript: ENSMUST00000088516
AA Change: D729G

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000085872
Gene: ENSMUSG00000040003
AA Change: D729G

Domain	Start	End	E-Value	Type
PDZ	26	101	5.26e-9	SMART
GuKc	107	290	2.76e-45	SMART
WW	302	334	7.43e-12	SMART
WW	348	380	2.4e-6	SMART
PDZ	433	509	3.51e-19	SMART
PDZ	612	682	2.3e-14	SMART
PDZ	785	861	4.04e-19	SMART
low complexity region	893	907	N/A	INTRINSIC
PDZ	928	1009	5.05e-20	SMART
low complexity region	1052	1063	N/A	INTRINSIC
PDZ	1147	1221	3.88e-21	SMART
low complexity region	1257	1270	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000101558
AA Change: D566G

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)

SMART Domains

Protein: ENSMUSP00000099094
Gene: ENSMUSG00000040003
AA Change: D566G

Domain	Start	End	E-Value	Type
low complexity region	66	74	N/A	INTRINSIC
WW	139	171	7.43e-12	SMART
WW	185	217	2.4e-6	SMART
PDZ	270	346	3.51e-19	SMART
PDZ	449	519	2.3e-14	SMART
PDZ	608	684	4.04e-19	SMART
low complexity region	716	730	N/A	INTRINSIC
PDZ	751	832	5.05e-20	SMART
low complexity region	875	886	N/A	INTRINSIC
PDZ	970	1044	3.88e-21	SMART
low complexity region	1080	1093	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000115267
AA Change: D566G

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000110922
Gene: ENSMUSG00000040003
AA Change: D566G

Domain	Start	End	E-Value	Type
low complexity region	66	74	N/A	INTRINSIC
WW	139	171	7.43e-12	SMART
WW	185	217	2.4e-6	SMART
PDZ	270	346	3.51e-19	SMART
PDZ	449	519	2.3e-14	SMART
PDZ	622	698	4.04e-19	SMART
low complexity region	730	744	N/A	INTRINSIC
PDZ	765	846	5.05e-20	SMART
low complexity region	889	900	N/A	INTRINSIC
PDZ	984	1058	3.88e-21	SMART
low complexity region	1094	1107	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000197354
AA Change: D729G

PolyPhen 2 Score 0.975 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000142576
Gene: ENSMUSG00000040003
AA Change: D729G

Domain	Start	End	E-Value	Type
PDZ	26	101	2.5e-11	SMART
GuKc	107	290	1.4e-47	SMART
WW	302	334	4.3e-14	SMART
WW	348	380	1.4e-8	SMART
PDZ	433	509	1.7e-21	SMART
PDZ	612	682	1.1e-16	SMART
PDZ	785	861	2e-21	SMART
low complexity region	893	907	N/A	INTRINSIC
PDZ	928	1009	2.4e-22	SMART
low complexity region	1052	1063	N/A	INTRINSIC
PDZ	1147	1221	1.9e-23	SMART
low complexity region	1255	1269	N/A	INTRINSIC
low complexity region	1304	1319	N/A	INTRINSIC
low complexity region	1344	1363	N/A	INTRINSIC
low complexity region	1368	1384	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000197443
AA Change: D729G

PolyPhen 2 Score 0.975 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000142764
Gene: ENSMUSG00000040003
AA Change: D729G

Domain	Start	End	E-Value	Type
PDZ	26	101	2.5e-11	SMART
GuKc	107	290	1.4e-47	SMART
WW	302	334	4.3e-14	SMART
WW	348	380	1.4e-8	SMART
PDZ	433	509	1.7e-21	SMART
PDZ	612	682	1.1e-16	SMART
PDZ	771	847	2e-21	SMART
low complexity region	879	893	N/A	INTRINSIC
PDZ	914	995	2.4e-22	SMART
low complexity region	1038	1049	N/A	INTRINSIC
PDZ	1133	1207	1.9e-23	SMART
low complexity region	1241	1255	N/A	INTRINSIC
low complexity region	1290	1305	N/A	INTRINSIC
low complexity region	1330	1349	N/A	INTRINSIC
low complexity region	1354	1370	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000197553
AA Change: D339G

PolyPhen 2 Score 0.916 (Sensitivity: 0.81; Specificity: 0.94)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000198908

Predicted Effect

unknown
Transcript: ENSMUST00000207284
AA Change: D36G

Predicted Effect

possibly damaging
Transcript: ENSMUST00000208219
AA Change: D339G

PolyPhen 2 Score 0.915 (Sensitivity: 0.81; Specificity: 0.94)

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.6%
20x: 93.3%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene interacts with atrophin-1. Atrophin-1 contains a polyglutamine repeat, expansion of which is responsible for dentatorubral and pallidoluysian atrophy. This encoded protein is characterized by two WW domains, a guanylate kinase-like domain, and multiple PDZ domains. It has structural similarity to the membrane-associated guanylate kinase homologue (MAGUK) family. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygotes for a null allele show neonatal death and hippocampal neurons with altered dendritic spine morphology. Homozygotes for a different null allele die neonatally due to anuria and podocyte anomalies. Mice lacking all three isoforms develop proteinuria, podocytopathy and die of renal failure. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 23 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ap2b1	T	C	11: 83,230,218 (GRCm39)	V412A	probably damaging	Het
Asic2	T	C	11: 80,774,252 (GRCm39)	Y455C	probably damaging	Het
Bbx	T	C	16: 50,086,714 (GRCm39)	K61E	probably damaging	Het
Cd207	T	C	6: 83,651,367 (GRCm39)	E196G	possibly damaging	Het
Chn1	T	A	2: 73,490,130 (GRCm39)	Q49L	possibly damaging	Het
Cpd	A	G	11: 76,704,396 (GRCm39)	I406T	probably damaging	Het
D630003M21Rik	C	T	2: 158,053,563 (GRCm39)	V642I	possibly damaging	Het
Dnah7b	C	T	1: 46,281,188 (GRCm39)	L2750F	probably damaging	Het
Epyc	A	G	10: 97,510,562 (GRCm39)	T122A	probably benign	Het
Kcnt1	A	G	2: 25,791,358 (GRCm39)	H567R	probably damaging	Het
Myh4	G	T	11: 67,144,241 (GRCm39)	V1204L	probably benign	Het
Noa1	T	C	5: 77,456,873 (GRCm39)	Y344C	probably damaging	Het
Or1j19	A	G	2: 36,677,370 (GRCm39)	M278V	probably benign	Het
Or4c102	A	G	2: 88,422,348 (GRCm39)	M67V	probably benign	Het
Pex1	T	C	5: 3,672,310 (GRCm39)	S718P	probably damaging	Het
Plxnb1	T	A	9: 108,935,647 (GRCm39)	V1061E	probably benign	Het
Rdh16f1	A	G	10: 127,624,546 (GRCm39)	Q128R	probably benign	Het
Rnd2	C	T	11: 101,359,825 (GRCm39)	L57F	probably damaging	Het
Slc26a9	A	T	1: 131,693,625 (GRCm39)	Q705L	probably damaging	Het
Tas2r143	T	A	6: 42,377,658 (GRCm39)	C163S	probably benign	Het
Tigd2	A	G	6: 59,188,131 (GRCm39)	T333A	probably benign	Het
Urb2	T	C	8: 124,757,920 (GRCm39)	V1209A	probably damaging	Het
Vmn2r71	T	A	7: 85,273,352 (GRCm39)	V722D	probably damaging	Het

Other mutations in Magi2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00908:Magi2	APN	5	20,596,299 (GRCm39)	missense	probably benign	0.05
IGL02120:Magi2	APN	5	20,433,451 (GRCm39)	critical splice donor site	probably null
IGL02341:Magi2	APN	5	20,671,201 (GRCm39)	missense	probably damaging	1.00
IGL02411:Magi2	APN	5	19,883,707 (GRCm39)	missense	probably damaging	1.00
IGL02657:Magi2	APN	5	19,432,581 (GRCm39)	missense	probably damaging	0.99
IGL02976:Magi2	APN	5	20,739,473 (GRCm39)	missense	probably damaging	1.00
IGL03105:Magi2	APN	5	20,748,616 (GRCm39)	missense	probably damaging	0.97
IGL03246:Magi2	APN	5	20,563,948 (GRCm39)	missense	probably damaging	1.00
IGL03329:Magi2	APN	5	20,671,126 (GRCm39)	missense	possibly damaging	0.95
LCD18:Magi2	UTSW	5	20,159,509 (GRCm39)	intron	probably benign
PIT4519001:Magi2	UTSW	5	20,866,344 (GRCm39)	missense	probably damaging	1.00
R0009:Magi2	UTSW	5	20,816,053 (GRCm39)	missense	probably benign	0.15
R0009:Magi2	UTSW	5	20,816,053 (GRCm39)	missense	probably benign	0.15
R0352:Magi2	UTSW	5	20,270,664 (GRCm39)	missense	probably damaging	1.00
R0362:Magi2	UTSW	5	19,432,573 (GRCm39)	missense	probably damaging	1.00
R0496:Magi2	UTSW	5	20,866,357 (GRCm39)	splice site	probably benign
R1103:Magi2	UTSW	5	20,816,101 (GRCm39)	missense	probably damaging	1.00
R1435:Magi2	UTSW	5	20,563,943 (GRCm39)	missense	probably damaging	1.00
R1583:Magi2	UTSW	5	19,432,330 (GRCm39)	missense	probably benign	0.30
R1616:Magi2	UTSW	5	20,814,324 (GRCm39)	missense	probably damaging	1.00
R1643:Magi2	UTSW	5	20,910,504 (GRCm39)	unclassified	probably benign
R1707:Magi2	UTSW	5	20,420,491 (GRCm39)	missense	probably damaging	1.00
R1833:Magi2	UTSW	5	19,432,455 (GRCm39)	missense	probably damaging	1.00
R1837:Magi2	UTSW	5	20,670,825 (GRCm39)	missense	probably damaging	1.00
R1838:Magi2	UTSW	5	20,670,825 (GRCm39)	missense	probably damaging	1.00
R1839:Magi2	UTSW	5	20,670,825 (GRCm39)	missense	probably damaging	1.00
R1847:Magi2	UTSW	5	20,807,458 (GRCm39)	missense	probably damaging	0.99
R2223:Magi2	UTSW	5	20,670,670 (GRCm39)	missense	probably damaging	1.00
R2496:Magi2	UTSW	5	19,883,750 (GRCm39)	missense	probably benign	0.42
R2504:Magi2	UTSW	5	20,563,934 (GRCm39)	missense	probably damaging	1.00
R2848:Magi2	UTSW	5	20,807,459 (GRCm39)	frame shift	probably null
R2879:Magi2	UTSW	5	20,807,459 (GRCm39)	frame shift	probably null
R2935:Magi2	UTSW	5	20,807,459 (GRCm39)	frame shift	probably null
R2936:Magi2	UTSW	5	20,807,459 (GRCm39)	frame shift	probably null
R3694:Magi2	UTSW	5	20,807,459 (GRCm39)	frame shift	probably null
R3783:Magi2	UTSW	5	20,670,907 (GRCm39)	missense	probably damaging	0.97
R3786:Magi2	UTSW	5	20,670,907 (GRCm39)	missense	probably damaging	0.97
R3787:Magi2	UTSW	5	20,670,907 (GRCm39)	missense	probably damaging	0.97
R3837:Magi2	UTSW	5	20,420,466 (GRCm39)	missense	probably benign	0.28
R4151:Magi2	UTSW	5	19,432,290 (GRCm39)	missense	probably damaging	0.97
R4721:Magi2	UTSW	5	20,739,467 (GRCm39)	missense	probably damaging	1.00
R5012:Magi2	UTSW	5	20,670,618 (GRCm39)	missense	probably damaging	0.99
R5193:Magi2	UTSW	5	20,563,970 (GRCm39)	critical splice donor site	probably null
R5298:Magi2	UTSW	5	20,774,160 (GRCm39)	missense	probably damaging	1.00
R5372:Magi2	UTSW	5	20,907,108 (GRCm39)	missense	possibly damaging	0.82
R5580:Magi2	UTSW	5	20,420,422 (GRCm39)	missense	probably benign	0.03
R5806:Magi2	UTSW	5	20,856,202 (GRCm39)	missense	probably benign	0.01
R5924:Magi2	UTSW	5	20,816,067 (GRCm39)	missense	probably benign	0.00
R5992:Magi2	UTSW	5	19,432,289 (GRCm39)	start codon destroyed	probably null	0.42
R6014:Magi2	UTSW	5	20,816,091 (GRCm39)	missense	probably damaging	1.00
R6073:Magi2	UTSW	5	20,774,286 (GRCm39)	missense	probably damaging	1.00
R6500:Magi2	UTSW	5	20,807,345 (GRCm39)	missense	possibly damaging	0.94
R6664:Magi2	UTSW	5	20,907,395 (GRCm39)	missense	probably benign	0.00
R7229:Magi2	UTSW	5	20,670,586 (GRCm39)	missense	probably damaging	1.00
R7344:Magi2	UTSW	5	20,755,238 (GRCm39)	missense	probably benign	0.19
R7448:Magi2	UTSW	5	20,563,954 (GRCm39)	missense	probably damaging	1.00
R7605:Magi2	UTSW	5	20,433,383 (GRCm39)	missense	probably damaging	1.00
R7712:Magi2	UTSW	5	20,755,280 (GRCm39)	missense	possibly damaging	0.78
R7808:Magi2	UTSW	5	20,670,838 (GRCm39)	missense	probably benign	0.03
R7955:Magi2	UTSW	5	20,594,070 (GRCm39)	missense	probably damaging	1.00
R8134:Magi2	UTSW	5	20,596,392 (GRCm39)	missense	probably benign	0.03
R8134:Magi2	UTSW	5	20,596,365 (GRCm39)	missense	probably damaging	1.00
R8253:Magi2	UTSW	5	20,814,305 (GRCm39)	missense	probably benign	0.44
R8481:Magi2	UTSW	5	20,594,152 (GRCm39)	missense	possibly damaging	0.91
R8553:Magi2	UTSW	5	20,856,198 (GRCm39)	missense	probably benign	0.00
R8751:Magi2	UTSW	5	20,739,462 (GRCm39)	missense	probably benign
R8766:Magi2	UTSW	5	20,400,123 (GRCm39)	missense	probably benign	0.33
R8851:Magi2	UTSW	5	20,270,618 (GRCm39)	missense	probably damaging	1.00
R8876:Magi2	UTSW	5	20,856,190 (GRCm39)	nonsense	probably null
R9120:Magi2	UTSW	5	20,733,305 (GRCm39)	missense	possibly damaging	0.81
R9335:Magi2	UTSW	5	20,866,263 (GRCm39)	missense
R9367:Magi2	UTSW	5	20,766,308 (GRCm39)	missense	probably damaging	0.97
R9454:Magi2	UTSW	5	20,671,176 (GRCm39)	missense	probably damaging	0.97
R9474:Magi2	UTSW	5	20,400,019 (GRCm39)	missense	probably benign	0.00
R9577:Magi2	UTSW	5	20,814,282 (GRCm39)	missense	probably damaging	1.00
R9673:Magi2	UTSW	5	20,670,582 (GRCm39)	missense	possibly damaging	0.86
R9696:Magi2	UTSW	5	20,670,864 (GRCm39)	missense	probably benign	0.35
X0065:Magi2	UTSW	5	20,774,176 (GRCm39)	missense	possibly damaging	0.94
Z1176:Magi2	UTSW	5	20,907,107 (GRCm39)	missense	probably benign	0.32
Z1177:Magi2	UTSW	5	20,907,410 (GRCm39)	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- GCAAGGAGGTCTTTTGTAACGG -3'
(R):5'- TCTGGAGATACCTTTGAGCCTC -3'

Sequencing Primer
(F):5'- AGGTCTTTTGTAACGGTAACAAGG -3'
(R):5'- ATACCTTTGAGCCTCAGAAGG -3'

Posted On

2016-06-06