Incidental Mutation 'R7229:Magi2'
ID 562340
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
MMRRC Submission 045301-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R7229 (G1)
Quality Score 225.009
Status Validated
Chromosome 5
Chromosomal Location 19432034-20909790 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 20670586 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 310 (V310A)
Ref Sequence ENSEMBL: ENSMUSP00000099094 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000088516] [ENSMUST00000101558] [ENSMUST00000115267] [ENSMUST00000197354] [ENSMUST00000197443] [ENSMUST00000197553] [ENSMUST00000208219]
AlphaFold Q9WVQ1
Predicted Effect probably damaging
Transcript: ENSMUST00000088516
AA Change: V473A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000085872
Gene: ENSMUSG00000040003
AA Change: V473A

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 damaging
Transcript: ENSMUST00000101558
AA Change: V310A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000099094
Gene: ENSMUSG00000040003
AA Change: V310A

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 probably damaging
Transcript: ENSMUST00000115267
AA Change: V310A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000110922
Gene: ENSMUSG00000040003
AA Change: V310A

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 probably damaging
Transcript: ENSMUST00000197354
AA Change: V473A

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000142576
Gene: ENSMUSG00000040003
AA Change: V473A

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 probably damaging
Transcript: ENSMUST00000197443
AA Change: V473A

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000142764
Gene: ENSMUSG00000040003
AA Change: V473A

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 damaging
Transcript: ENSMUST00000197553
AA Change: V83A

PolyPhen 2 Score 0.957 (Sensitivity: 0.78; Specificity: 0.95)
Predicted Effect probably damaging
Transcript: ENSMUST00000208219
AA Change: V83A

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.8%
Validation Efficiency 100% (73/73)
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: 73 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4931414P19Rik T C 14: 54,832,809 (GRCm39) E122G probably benign Het
Adamts2 T C 11: 50,682,647 (GRCm39) Y880H probably damaging Het
Atp13a4 A G 16: 29,239,723 (GRCm39) S830P probably benign Het
Atp1a3 T A 7: 24,687,410 (GRCm39) Q696L probably benign Het
Brox G A 1: 183,073,523 (GRCm39) R85* probably null Het
C130073F10Rik T C 4: 101,747,439 (GRCm39) I197V probably benign Het
Cand2 G A 6: 115,768,153 (GRCm39) V433M probably damaging Het
Cep83 A G 10: 94,555,527 (GRCm39) K74E probably damaging Het
Chrng A T 1: 87,137,166 (GRCm39) T275S probably benign Het
Clca3a2 T C 3: 144,789,869 (GRCm39) D489G probably damaging Het
Cmtr1 A G 17: 29,914,398 (GRCm39) probably null Het
Cnga1 T C 5: 72,775,592 (GRCm39) N43S probably benign Het
Cog8 A T 8: 107,782,984 (GRCm39) C102S probably damaging Het
Cpsf3 G A 12: 21,346,738 (GRCm39) probably null Het
Cyp26b1 G A 6: 84,554,132 (GRCm39) Q162* probably null Het
Elmod3 A G 6: 72,571,736 (GRCm39) F14S probably benign Het
Eps8 A G 6: 137,516,354 (GRCm39) S9P probably benign Het
Fam184b T C 5: 45,741,517 (GRCm39) Q238R probably damaging Het
Fbxw7 T C 3: 84,884,676 (GRCm39) L654S unknown Het
Foxp1 A T 6: 98,912,373 (GRCm39) L580Q unknown Het
Galr1 A G 18: 82,423,789 (GRCm39) S163P probably damaging Het
Ganc T C 2: 120,258,256 (GRCm39) F201L possibly damaging Het
Gin1 T C 1: 97,712,876 (GRCm39) F310L probably benign Het
Grik2 A T 10: 48,977,512 (GRCm39) probably null Het
Haus1 A T 18: 77,851,834 (GRCm39) F94I probably benign Het
Hcn4 A G 9: 58,760,682 (GRCm39) Y409C unknown Het
Hspa1l A G 17: 35,196,231 (GRCm39) K90R probably benign Het
Icam5 T C 9: 20,948,297 (GRCm39) S702P possibly damaging Het
Ifnar1 A G 16: 91,296,444 (GRCm39) H315R probably benign Het
Klra9 T C 6: 130,168,224 (GRCm39) H14R probably damaging Het
Krt78 A G 15: 101,855,829 (GRCm39) Y661H probably benign Het
Krtap11-1 T C 16: 89,367,813 (GRCm39) T69A possibly damaging Het
L3mbtl3 C A 10: 26,168,560 (GRCm39) S598I unknown Het
Lama1 A T 17: 68,059,441 (GRCm39) D608V Het
Lrrc55 G A 2: 85,026,784 (GRCm39) T80I probably damaging Het
Lyst A T 13: 13,818,094 (GRCm39) T1255S probably benign Het
Med23 C A 10: 24,777,902 (GRCm39) A750D probably benign Het
Mmp2 G A 8: 93,558,414 (GRCm39) R161Q probably damaging Het
Myo15a A T 11: 60,387,321 (GRCm39) I733F probably benign Het
Ncan A T 8: 70,552,961 (GRCm39) F1090L possibly damaging Het
Or2ag2b T G 7: 106,418,202 (GRCm39) V304G probably damaging Het
Otulinl G A 15: 27,658,273 (GRCm39) T199M probably benign Het
Pafah1b1 A G 11: 74,573,104 (GRCm39) I320T probably damaging Het
Pcdhb1 T A 18: 37,399,740 (GRCm39) Y564N probably damaging Het
Pear1 A G 3: 87,657,596 (GRCm39) S988P probably benign Het
Pgam2 A C 11: 5,753,013 (GRCm39) V194G probably damaging Het
Plvap A T 8: 71,964,221 (GRCm39) I47N probably damaging Het
Prdx6 A T 1: 161,074,867 (GRCm39) L71H probably damaging Het
Psmb11 G A 14: 54,863,408 (GRCm39) V209M probably damaging Het
Ptprn2 G A 12: 117,190,845 (GRCm39) probably null Het
Rcn2 T A 9: 55,964,763 (GRCm39) N240K probably benign Het
Rsad2 A T 12: 26,504,122 (GRCm39) Y136N probably damaging Het
Slc12a4 T G 8: 106,673,369 (GRCm39) Q734P probably benign Het
Smarcc2 T A 10: 128,323,917 (GRCm39) M1085K unknown Het
Smg1 A T 7: 117,776,178 (GRCm39) C1371S probably benign Het
Spg11 A T 2: 121,938,585 (GRCm39) F456L probably damaging Het
Srsf10 C T 4: 135,583,528 (GRCm39) probably benign Het
Stxbp5 T C 10: 9,673,931 (GRCm39) Y4C probably damaging Het
Tdrd12 T A 7: 35,179,705 (GRCm39) D881V unknown Het
Tmem171 T C 13: 98,829,133 (GRCm39) T6A probably benign Het
Tmem220 T C 11: 66,916,989 (GRCm39) L55P unknown Het
Ttn G T 2: 76,677,125 (GRCm39) P11037Q unknown Het
Tulp4 C T 17: 6,282,055 (GRCm39) H695Y probably damaging Het
Usp47 T C 7: 111,692,084 (GRCm39) S849P probably benign Het
Vcan G A 13: 89,853,389 (GRCm39) P524S possibly damaging Het
Vmn1r18 A G 6: 57,367,083 (GRCm39) M157T probably benign Het
Vmn2r109 A T 17: 20,761,225 (GRCm39) C711S possibly damaging Het
Wasf3 C T 5: 146,392,463 (GRCm39) R178C probably damaging Het
Wdr76 G A 2: 121,359,401 (GRCm39) V231I probably damaging Het
Xirp2 A T 2: 67,355,895 (GRCm39) N3552I probably damaging Het
Zfp804a A G 2: 82,088,969 (GRCm39) T933A probably benign Het
Zmynd8 A G 2: 165,699,973 (GRCm39) probably null Het
Zranb3 A T 1: 127,968,630 (GRCm39) I95K 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
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
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
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'- AGGGCTTTATTCAGCATTTGCC -3'
(R):5'- CTCTCCATTATTGCAAGGGGTG -3'

Sequencing Primer
(F):5'- TGTGTCCTTGAGTCACCTACAGAG -3'
(R):5'- CATTATTGCAAGGGGTGGCACC -3'
Posted On 2019-06-26