Incidental Mutation 'R3787:Magi2'
ID 272298
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 040754-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R3787 (G1)
Quality Score 225
Status Not validated
Chromosome 5
Chromosomal Location 19432034-20909790 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 20670907 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Methionine at position 580 (T580M)
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: T580M

PolyPhen 2 Score 0.073 (Sensitivity: 0.93; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000085872
Gene: ENSMUSG00000040003
AA Change: T580M

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: T417M

PolyPhen 2 Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)
SMART Domains Protein: ENSMUSP00000099094
Gene: ENSMUSG00000040003
AA Change: T417M

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: T417M

PolyPhen 2 Score 0.073 (Sensitivity: 0.93; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000110922
Gene: ENSMUSG00000040003
AA Change: T417M

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: T580M

PolyPhen 2 Score 0.973 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000142576
Gene: ENSMUSG00000040003
AA Change: T580M

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: T580M

PolyPhen 2 Score 0.973 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000142764
Gene: ENSMUSG00000040003
AA Change: T580M

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 possibly damaging
Transcript: ENSMUST00000197553
AA Change: T190M

PolyPhen 2 Score 0.829 (Sensitivity: 0.84; Specificity: 0.93)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000197822
Predicted Effect possibly damaging
Transcript: ENSMUST00000208219
AA Change: T190M

PolyPhen 2 Score 0.783 (Sensitivity: 0.85; Specificity: 0.93)
Meta Mutation Damage Score 0.0756 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.1%
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: 58 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
3110082I17Rik G T 5: 139,441,197 (GRCm39) P35Q probably damaging Het
Aoc1 T C 6: 48,882,589 (GRCm39) L177P probably damaging Het
Aprt T C 8: 123,302,268 (GRCm39) D65G probably benign Het
Auh C A 13: 53,083,493 (GRCm39) R62L possibly damaging Het
Bmp4 C T 14: 46,623,171 (GRCm39) probably null Het
Bptf C A 11: 106,964,653 (GRCm39) D1514Y probably damaging Het
Carmil3 T C 14: 55,734,433 (GRCm39) F418S probably damaging Het
Ccdc112 C T 18: 46,432,365 (GRCm39) R72H probably benign Het
Ccdc138 T C 10: 58,374,092 (GRCm39) Y371H probably damaging Het
Chsy3 T C 18: 59,542,070 (GRCm39) Y403H probably damaging Het
Cul4a T C 8: 13,183,668 (GRCm39) V352A probably damaging Het
Dennd3 T C 15: 73,419,426 (GRCm39) V739A possibly damaging Het
Dmxl1 G A 18: 49,998,189 (GRCm39) S763N probably damaging Het
Dmxl2 T C 9: 54,277,162 (GRCm39) D2893G probably damaging Het
Dnah8 A G 17: 30,974,015 (GRCm39) D2800G probably damaging Het
Dnaja2 C T 8: 86,267,015 (GRCm39) G281R probably damaging Het
Exo1 A G 1: 175,727,035 (GRCm39) T449A probably benign Het
Fancd2 T G 6: 113,542,165 (GRCm39) S770A probably damaging Het
Fmo1 A T 1: 162,657,583 (GRCm39) S519R possibly damaging Het
Fryl T C 5: 73,258,819 (GRCm39) Y655C probably benign Het
Gpt2 G T 8: 86,252,202 (GRCm39) V506L probably benign Het
Heatr1 G T 13: 12,449,341 (GRCm39) L1946F probably damaging Het
Inpp5k T C 11: 75,538,512 (GRCm39) L461P probably damaging Het
Mcm9 A G 10: 53,492,076 (GRCm39) V415A possibly damaging Het
Mki67 A T 7: 135,302,012 (GRCm39) N1007K possibly damaging Het
Mpped1 A T 15: 83,680,784 (GRCm39) probably benign Het
Mtpap T C 18: 4,380,670 (GRCm39) V116A probably damaging Het
Myo15a A T 11: 60,368,398 (GRCm39) Y386F probably damaging Het
Neurod1 T A 2: 79,284,939 (GRCm39) N148I probably damaging Het
Nfs1 A G 2: 155,970,503 (GRCm39) I270T possibly damaging Het
Nr1i3 A G 1: 171,041,994 (GRCm39) D26G probably damaging Het
Nsa2 G T 13: 97,272,042 (GRCm39) Q60K possibly damaging Het
Or13a28 G A 7: 140,217,748 (GRCm39) V45I probably benign Het
Or8g32 T C 9: 39,305,678 (GRCm39) V197A probably benign Het
Pde4dip G T 3: 97,622,868 (GRCm39) P1447Q possibly damaging Het
Plxna2 A G 1: 194,326,242 (GRCm39) T59A probably benign Het
Pmepa1 G A 2: 173,069,926 (GRCm39) R210W probably damaging Het
Ppp1r12c G A 7: 4,489,583 (GRCm39) A193V probably damaging Het
Pramel48 T A 5: 95,630,756 (GRCm39) L211Q probably damaging Het
Prdm15 G T 16: 97,598,945 (GRCm39) H904Q probably benign Het
Rala T A 13: 18,057,031 (GRCm39) E185V probably benign Het
Reep1 T A 6: 71,772,199 (GRCm39) D162E probably damaging Het
Rev3l T A 10: 39,722,206 (GRCm39) L2528Q probably damaging Het
Rfc1 A T 5: 65,453,357 (GRCm39) S264T probably benign Het
Sall4 A G 2: 168,598,043 (GRCm39) S266P probably damaging Het
Sipa1l2 C T 8: 126,149,944 (GRCm39) A1602T probably benign Het
Sipa1l2 C A 8: 126,177,122 (GRCm39) C1164F possibly damaging Het
Slc4a1ap T A 5: 31,685,483 (GRCm39) L254I possibly damaging Het
Slc5a3 A G 16: 91,874,816 (GRCm39) N291S possibly damaging Het
Stab2 T A 10: 86,805,141 (GRCm39) D279V possibly damaging Het
Synrg T C 11: 83,892,746 (GRCm39) F613S probably damaging Het
Tekt1 A G 11: 72,235,720 (GRCm39) I376T probably damaging Het
Thbs4 T C 13: 92,909,672 (GRCm39) N375S probably benign Het
Tro G A X: 149,438,048 (GRCm39) T203I possibly damaging Het
Txnl4b C T 8: 110,299,409 (GRCm39) A123V probably damaging Het
Vmn1r63 T A 7: 5,805,751 (GRCm39) M294L probably benign Het
Vmn2r58 C T 7: 41,513,498 (GRCm39) D382N probably benign Het
Wap G A 11: 6,588,550 (GRCm39) Q25* probably null 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
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'- CCCTTTGACCCTGAAGATCC -3'
(R):5'- ATGAGGTCTCCTTCACACAGC -3'

Sequencing Primer
(F):5'- TTTGACCCTGAAGATCCTGCTAACAG -3'
(R):5'- GTCTCCTTCACACAGCCCAGG -3'
Posted On 2015-03-25