Incidental Mutation 'R1837:Magi2'
ID 205384
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 039864-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R1837 (G1)
Quality Score 225
Status Validated
Chromosome 5
Chromosomal Location 19432034-20909790 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 20670825 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Serine at position 163 (T163S)
Ref Sequence ENSEMBL: ENSMUSP00000146769 (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: T553S

PolyPhen 2 Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)
SMART Domains Protein: ENSMUSP00000085872
Gene: ENSMUSG00000040003
AA Change: T553S

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: T390S

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000099094
Gene: ENSMUSG00000040003
AA Change: T390S

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 benign
Transcript: ENSMUST00000115267
AA Change: T390S

PolyPhen 2 Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)
SMART Domains Protein: ENSMUSP00000110922
Gene: ENSMUSG00000040003
AA Change: T390S

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: T553S

PolyPhen 2 Score 0.744 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000142576
Gene: ENSMUSG00000040003
AA Change: T553S

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 benign
Transcript: ENSMUST00000197443
AA Change: T553S

PolyPhen 2 Score 0.301 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000142764
Gene: ENSMUSG00000040003
AA Change: T553S

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: T163S

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000197822
Predicted Effect probably benign
Transcript: ENSMUST00000208219
AA Change: T163S

PolyPhen 2 Score 0.098 (Sensitivity: 0.93; Specificity: 0.85)
Meta Mutation Damage Score 0.0628 question?
Coding Region Coverage
  • 1x: 97.4%
  • 3x: 96.8%
  • 10x: 94.9%
  • 20x: 91.6%
Validation Efficiency 99% (86/87)
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: 85 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Actl10 G T 2: 154,394,962 (GRCm39) G305W probably damaging Het
Actr3b A T 5: 26,030,157 (GRCm39) T74S probably benign Het
Add2 A G 6: 86,095,540 (GRCm39) E652G probably damaging Het
Alg9 T A 9: 50,717,615 (GRCm39) V83D probably damaging Het
Atp13a2 T A 4: 140,721,643 (GRCm39) Y244* probably null Het
BB014433 C G 8: 15,092,629 (GRCm39) V75L unknown Het
Bcr A G 10: 75,003,932 (GRCm39) probably benign Het
Begain G A 12: 109,001,249 (GRCm39) probably benign Het
Bzw1 A G 1: 58,439,277 (GRCm39) K67E probably damaging Het
Ccdc141 T C 2: 76,842,009 (GRCm39) E1474G probably benign Het
Cdc73 T A 1: 143,543,395 (GRCm39) T314S possibly damaging Het
Cfap206 T C 4: 34,728,813 (GRCm39) T31A probably damaging Het
Cfap58 G A 19: 48,017,578 (GRCm39) E813K probably damaging Het
Clstn2 C A 9: 97,465,593 (GRCm39) A133S probably benign Het
Col14a1 A T 15: 55,245,891 (GRCm39) D465V unknown Het
Col2a1 C T 15: 97,894,522 (GRCm39) probably benign Het
Dab2 A G 15: 6,365,957 (GRCm39) probably benign Het
Eme1 T C 11: 94,536,787 (GRCm39) D464G probably benign Het
Eml6 T C 11: 29,699,802 (GRCm39) probably null Het
Ern1 C A 11: 106,349,783 (GRCm39) L44F probably damaging Het
Fam111a T A 19: 12,564,816 (GRCm39) S188R probably benign Het
Fam151b A T 13: 92,610,639 (GRCm39) probably benign Het
Fmo6 T C 1: 162,750,379 (GRCm39) N226D probably benign Het
Ggt1 A G 10: 75,415,128 (GRCm39) D214G probably benign Het
Gm14226 A G 2: 154,866,930 (GRCm39) I296V probably benign Het
Gm9915 A T 1: 42,269,847 (GRCm39) noncoding transcript Het
Heatr5b T C 17: 79,128,180 (GRCm39) D485G possibly damaging Het
Helz2 A T 2: 180,871,082 (GRCm39) I2785N probably damaging Het
Htt C T 5: 34,976,367 (GRCm39) T723M probably benign Het
Hydin C A 8: 111,296,257 (GRCm39) H3595Q probably benign Het
Il6ra T C 3: 89,797,579 (GRCm39) D96G probably benign Het
Kif5a G A 10: 127,072,684 (GRCm39) Q702* probably null Het
Klhdc7a G T 4: 139,694,381 (GRCm39) P189T probably benign Het
Krt7 A G 15: 101,317,463 (GRCm39) D252G probably benign Het
Lad1 C A 1: 135,757,444 (GRCm39) D394E probably benign Het
Lhx8 A T 3: 154,033,692 (GRCm39) C38S possibly damaging Het
Lta4h C T 10: 93,305,037 (GRCm39) T280M probably damaging Het
Med1 G T 11: 98,060,238 (GRCm39) D230E probably damaging Het
Mmp1b A T 9: 7,386,409 (GRCm39) F171I probably damaging Het
Mprip T C 11: 59,657,571 (GRCm39) V801A probably damaging Het
Mtrf1 A G 14: 79,639,273 (GRCm39) E135G possibly damaging Het
Muc5ac T A 7: 141,360,823 (GRCm39) M1378K probably benign Het
Myo3a A T 2: 22,467,604 (GRCm39) Q286L possibly damaging Het
Ndor1 C T 2: 25,138,408 (GRCm39) G391R probably damaging Het
Nefl C T 14: 68,324,075 (GRCm39) R438C probably damaging Het
Nlrp3 G A 11: 59,439,742 (GRCm39) V440I probably benign Het
Notch3 A T 17: 32,343,296 (GRCm39) L1959Q probably damaging Het
Noto A G 6: 85,401,159 (GRCm39) T63A probably benign Het
Oc90 G A 15: 65,761,529 (GRCm39) T163M probably damaging Het
Or1l4 T A 2: 37,092,114 (GRCm39) M287K probably benign Het
Or4c114 A T 2: 88,905,176 (GRCm39) Y86* probably null Het
Or5an10 A G 19: 12,275,740 (GRCm39) V252A probably damaging Het
Pdpr C A 8: 111,861,366 (GRCm39) P787T probably damaging Het
Phlda1 A G 10: 111,343,092 (GRCm39) Q276R probably benign Het
Ptpn21 T G 12: 98,699,885 (GRCm39) K10Q probably damaging Het
Ptprb A G 10: 116,177,531 (GRCm39) E1364G probably benign Het
Rabep1 T A 11: 70,795,484 (GRCm39) W237R probably damaging Het
Rai1 A T 11: 60,080,224 (GRCm39) K1429N probably damaging Het
Rapgef1 A G 2: 29,627,438 (GRCm39) I1027M probably damaging Het
Rit1 C G 3: 88,636,477 (GRCm39) T127S probably damaging Het
Rpap1 A C 2: 119,600,366 (GRCm39) probably null Het
Senp7 T A 16: 55,978,879 (GRCm39) C471S probably benign Het
Slc16a14 A G 1: 84,890,120 (GRCm39) V395A probably benign Het
Slc45a1 C T 4: 150,722,916 (GRCm39) G323S probably benign Het
Syne2 A T 12: 76,014,434 (GRCm39) E3208D probably damaging Het
Tap1 C T 17: 34,407,083 (GRCm39) A77V possibly damaging Het
Ticam1 T C 17: 56,577,799 (GRCm39) E432G possibly damaging Het
Tmem192 C A 8: 65,416,992 (GRCm39) probably benign Het
Trub1 T C 19: 57,441,461 (GRCm39) V28A probably benign Het
Ttc21b A T 2: 66,028,106 (GRCm39) L1121H probably benign Het
Ttc38 A G 15: 85,735,764 (GRCm39) D290G probably damaging Het
Ulk1 C T 5: 110,937,247 (GRCm39) G683D probably damaging Het
Vmn1r122 A T 7: 20,867,291 (GRCm39) F255I probably benign Het
Vmn2r68 T A 7: 84,882,886 (GRCm39) I289F probably damaging Het
Vps39 A T 2: 120,155,878 (GRCm39) L514H probably damaging Het
Wdr48 T G 9: 119,734,482 (GRCm39) S134A probably damaging Het
Yap1 A T 9: 7,962,350 (GRCm39) Y139N probably damaging Het
Ylpm1 T C 12: 85,076,107 (GRCm39) V486A possibly damaging Het
Zbtb38 T C 9: 96,569,048 (GRCm39) T679A probably benign Het
Zfp292 A G 4: 34,810,264 (GRCm39) S927P probably damaging Het
Zfp324 C T 7: 12,704,156 (GRCm39) T115I probably benign Het
Zfp523 T A 17: 28,413,967 (GRCm39) I34N probably damaging Het
Zfp945 A T 17: 23,070,247 (GRCm39) C551S probably damaging Het
Zfp958 A G 8: 4,678,590 (GRCm39) H205R probably damaging Het
Zfp974 G A 7: 27,609,781 (GRCm39) P648L possibly damaging 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
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
Predicted Primers PCR Primer
(F):5'- ACTCATGCAGATGTTGTCAAAC -3'
(R):5'- GTAAAGCCAAATCCCTGGGC -3'

Sequencing Primer
(F):5'- GCAGATGTTGTCAAACTTTTCCAGTC -3'
(R):5'- GGCACCTTTCACAATGGTTAAGGTC -3'
Posted On 2014-06-23