Incidental Mutation 'IGL03329:Magi2'
ID 416788
Institutional Source Australian Phenomics Network (link to record)
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 # IGL03329
Quality Score
Status
Chromosome 5
Chromosomal Location 19432034-20909790 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 20671126 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 490 (V490A)
Ref Sequence ENSEMBL: ENSMUSP00000110922 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000088516] [ENSMUST00000101558] [ENSMUST00000115267] [ENSMUST00000197354] [ENSMUST00000197443] [ENSMUST00000197553] [ENSMUST00000208219]
AlphaFold Q9WVQ1
Predicted Effect possibly damaging
Transcript: ENSMUST00000088516
AA Change: V653A

PolyPhen 2 Score 0.954 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000085872
Gene: ENSMUSG00000040003
AA Change: V653A

DomainStartEndE-ValueType
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: V490A

PolyPhen 2 Score 0.297 (Sensitivity: 0.91; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000099094
Gene: ENSMUSG00000040003
AA Change: V490A

DomainStartEndE-ValueType
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 possibly damaging
Transcript: ENSMUST00000115267
AA Change: V490A

PolyPhen 2 Score 0.954 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000110922
Gene: ENSMUSG00000040003
AA Change: V490A

DomainStartEndE-ValueType
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 possibly damaging
Transcript: ENSMUST00000197354
AA Change: V653A

PolyPhen 2 Score 0.684 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000142576
Gene: ENSMUSG00000040003
AA Change: V653A

DomainStartEndE-ValueType
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 possibly damaging
Transcript: ENSMUST00000197443
AA Change: V653A

PolyPhen 2 Score 0.549 (Sensitivity: 0.88; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000142764
Gene: ENSMUSG00000040003
AA Change: V653A

DomainStartEndE-ValueType
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 probably benign
Transcript: ENSMUST00000197553
AA Change: V263A

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000197822
Predicted Effect probably benign
Transcript: ENSMUST00000208219
AA Change: V263A

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
Coding Region Coverage
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: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca13 A G 11: 9,248,047 (GRCm39) D2598G probably benign Het
Abcf2 T G 5: 24,776,246 (GRCm39) probably null Het
Acsl1 T A 8: 46,946,031 (GRCm39) C55S possibly damaging Het
Adam22 T A 5: 8,199,210 (GRCm39) M249L possibly damaging Het
Alk A G 17: 72,206,159 (GRCm39) probably benign Het
Ambn T G 5: 88,609,527 (GRCm39) S78R probably benign Het
Apbb1ip T A 2: 22,757,729 (GRCm39) V449D possibly damaging Het
Atp13a5 A T 16: 29,152,883 (GRCm39) Y194* probably null Het
Cacul1 A T 19: 60,531,489 (GRCm39) F260Y probably damaging Het
Cfap46 A G 7: 139,181,081 (GRCm39) I2640T probably damaging Het
Chd7 T C 4: 8,841,108 (GRCm39) S1446P probably damaging Het
Cimap2 G T 4: 106,464,601 (GRCm39) R353S possibly damaging Het
Clcn2 G A 16: 20,530,902 (GRCm39) T276I probably damaging Het
Dcbld1 T G 10: 52,195,721 (GRCm39) Y310D probably damaging Het
Dennd4c G A 4: 86,696,113 (GRCm39) V157I probably damaging Het
Dennd5b G T 6: 148,899,758 (GRCm39) T1213K possibly damaging Het
Dusp8 A T 7: 141,638,097 (GRCm39) L177* probably null Het
Erbb4 T C 1: 68,367,281 (GRCm39) S479G probably benign Het
Gpbp1 T A 13: 111,589,787 (GRCm39) probably benign Het
Hmcn1 T A 1: 150,608,661 (GRCm39) Q1507L probably damaging Het
Inppl1 G T 7: 101,473,587 (GRCm39) T1021K possibly damaging Het
Klk1b9 A G 7: 43,628,838 (GRCm39) E114G probably benign Het
Klre1 T C 6: 129,562,660 (GRCm39) probably benign Het
Lancl1 T C 1: 67,060,209 (GRCm39) Y72C probably damaging Het
Lilra6 A G 7: 3,917,647 (GRCm39) probably benign Het
Myo3b T A 2: 70,084,803 (GRCm39) N720K probably damaging Het
Or2ah1 A C 2: 85,653,729 (GRCm39) D138A probably benign Het
Or7e166 T C 9: 19,624,597 (GRCm39) V158A probably benign Het
Ppp2r3d T A 9: 101,003,630 (GRCm39) probably benign Het
Rbm47 T C 5: 66,184,036 (GRCm39) D189G probably damaging Het
Scn2a G A 2: 65,594,973 (GRCm39) D1941N probably benign Het
Sgpp2 T C 1: 78,367,200 (GRCm39) I111T probably benign Het
Sh3bp2 T C 5: 34,716,546 (GRCm39) V319A probably benign Het
Slc12a3 A C 8: 95,092,519 (GRCm39) Q980P possibly damaging Het
Slc39a8 G T 3: 135,590,474 (GRCm39) G389V probably damaging Het
Slc5a3 T C 16: 91,874,348 (GRCm39) I135T probably damaging Het
Smu1 A G 4: 40,739,568 (GRCm39) V414A possibly damaging Het
Tlr12 A G 4: 128,510,645 (GRCm39) F535S possibly damaging Het
Trim47 A G 11: 115,997,254 (GRCm39) V501A probably damaging Het
Vmn1r16 A T 6: 57,300,603 (GRCm39) N6K probably damaging Het
Vwce G A 19: 10,637,360 (GRCm39) C711Y possibly damaging Het
Wdr25 C T 12: 108,864,262 (GRCm39) L136F probably benign Het
Xpo1 A G 11: 23,234,306 (GRCm39) Q437R probably benign Het
Zfp169 C A 13: 48,644,270 (GRCm39) probably benign Het
Zfp607b A T 7: 27,403,295 (GRCm39) I584F probably damaging Het
Zzef1 T A 11: 72,808,099 (GRCm39) probably benign Het
Other mutations in Magi2
AlleleSourceChrCoordTypePredicted EffectPPH 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
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
R5005:Magi2 UTSW 5 20,739,444 (GRCm39) missense probably damaging 0.98
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
Posted On 2016-08-02