Incidental Mutation 'R1643:Magi2'
ID 173664
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 039679-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R1643 (G1)
Quality Score 225
Status Validated
Chromosome 5
Chromosomal Location 19432034-20909790 bp(+) (GRCm39)
Type of Mutation unclassified
DNA Base Change (assembly) A to G at 20910504 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Gene Model predicted gene model for transcript(s): [ENSMUST00000088516] [ENSMUST00000101558] [ENSMUST00000115267] [ENSMUST00000197354] [ENSMUST00000197443]
AlphaFold Q9WVQ1
Predicted Effect probably benign
Transcript: ENSMUST00000088516
SMART Domains Protein: ENSMUSP00000085872
Gene: ENSMUSG00000040003

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 noncoding transcript
Transcript: ENSMUST00000101556
SMART Domains Protein: ENSMUSP00000099092
Gene: ENSMUSG00000073174

DomainStartEndE-ValueType
low complexity region 6 48 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000101558
SMART Domains Protein: ENSMUSP00000099094
Gene: ENSMUSG00000040003

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
SMART Domains Protein: ENSMUSP00000110922
Gene: ENSMUSG00000040003

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 noncoding transcript
Transcript: ENSMUST00000189302
Predicted Effect noncoding transcript
Transcript: ENSMUST00000197307
Predicted Effect probably benign
Transcript: ENSMUST00000197354
SMART Domains Protein: ENSMUSP00000142576
Gene: ENSMUSG00000040003

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
SMART Domains Protein: ENSMUSP00000142764
Gene: ENSMUSG00000040003

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: ENSMUST00000199514
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.3%
  • 10x: 96.2%
  • 20x: 92.5%
Validation Efficiency 99% (74/75)
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: 70 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700037C18Rik T A 16: 3,724,942 (GRCm39) K45* probably null Het
Abcc1 T A 16: 14,231,232 (GRCm39) Y457N probably damaging Het
Actr3b A G 5: 26,017,009 (GRCm39) D19G probably damaging Het
Adam39 T C 8: 41,279,523 (GRCm39) V638A possibly damaging Het
Adamts1 G T 16: 85,593,705 (GRCm39) probably benign Het
AI661453 A G 17: 47,778,791 (GRCm39) probably benign Het
Ank3 G A 10: 69,720,632 (GRCm39) S565N probably benign Het
Casd1 A G 6: 4,621,243 (GRCm39) E267G probably benign Het
Casr T C 16: 36,320,567 (GRCm39) K527R probably damaging Het
Cep128 A C 12: 91,292,306 (GRCm39) S248A probably damaging Het
Clic4 A G 4: 134,966,206 (GRCm39) V50A possibly damaging Het
Cylc2 C T 4: 51,225,173 (GRCm39) A36V probably benign Het
Derl1 T A 15: 57,741,955 (GRCm39) M127L probably benign Het
Dnah6 A G 6: 73,021,735 (GRCm39) V3529A possibly damaging Het
Dock1 G T 7: 134,700,508 (GRCm39) L1089F probably damaging Het
Edil3 T A 13: 89,437,695 (GRCm39) probably null Het
Efcab3 A T 11: 104,589,804 (GRCm39) T134S probably benign Het
Ephb1 A G 9: 101,874,024 (GRCm39) V550A probably damaging Het
Fcho2 G A 13: 98,921,324 (GRCm39) T187I probably benign Het
Gas6 T C 8: 13,515,902 (GRCm39) probably null Het
Gdf7 T C 12: 8,347,971 (GRCm39) Y442C probably damaging Het
Gm11567 G A 11: 99,770,623 (GRCm39) G187E unknown Het
Gm8674 T C 13: 50,055,394 (GRCm39) noncoding transcript Het
Ift80 T A 3: 68,823,490 (GRCm39) I591F probably benign Het
Kcnn3 C T 3: 89,427,804 (GRCm39) S10L unknown Het
Keg1 A G 19: 12,696,406 (GRCm39) I197V probably benign Het
Klhdc9 A G 1: 171,187,034 (GRCm39) probably null Het
Klhl11 A G 11: 100,353,841 (GRCm39) V660A probably benign Het
Lamc1 T C 1: 153,133,818 (GRCm39) probably benign Het
Lrrc73 G T 17: 46,566,266 (GRCm39) probably null Het
Lrriq1 G A 10: 103,050,685 (GRCm39) S689L probably benign Het
Meis1 A G 11: 18,966,278 (GRCm39) S32P probably benign Het
Mia2 A G 12: 59,226,631 (GRCm39) probably null Het
Mlph T C 1: 90,869,456 (GRCm39) L486P probably damaging Het
Myh10 A G 11: 68,682,836 (GRCm39) E1090G probably damaging Het
Mylk T C 16: 34,696,005 (GRCm39) S247P probably benign Het
Naip2 C T 13: 100,298,489 (GRCm39) A516T possibly damaging Het
Ndufc1 T C 3: 51,315,664 (GRCm39) T25A probably benign Het
Nedd4l A G 18: 65,331,712 (GRCm39) Y636C probably damaging Het
Nfib A T 4: 82,416,916 (GRCm39) Y40N probably damaging Het
Niban3 A G 8: 72,052,808 (GRCm39) D94G probably benign Het
Nisch T C 14: 30,895,125 (GRCm39) D1057G probably damaging Het
P3h2 T C 16: 25,791,041 (GRCm39) H475R probably benign Het
Pde6c C A 19: 38,150,406 (GRCm39) T517K possibly damaging Het
Piezo2 T C 18: 63,215,986 (GRCm39) I994V probably benign Het
Pik3r4 A G 9: 105,564,351 (GRCm39) D1315G possibly damaging Het
Pip5k1c T G 10: 81,150,828 (GRCm39) V46G probably damaging Het
Pole A G 5: 110,465,711 (GRCm39) E1213G probably damaging Het
Prl7d1 T C 13: 27,896,114 (GRCm39) S88G possibly damaging Het
Prodh T A 16: 17,898,933 (GRCm39) N72I probably benign Het
Prrc2a G A 17: 35,375,930 (GRCm39) R907C probably damaging Het
Ptger2 T A 14: 45,226,423 (GRCm39) M1K probably null Het
Samd4b G C 7: 28,123,041 (GRCm39) Q6E probably damaging Het
Sec24a C T 11: 51,595,212 (GRCm39) R916H probably benign Het
Slc12a5 C A 2: 164,835,947 (GRCm39) D865E probably benign Het
Slc17a3 T C 13: 24,041,181 (GRCm39) probably benign Het
Ssrp1 T C 2: 84,871,529 (GRCm39) V317A possibly damaging Het
Stim1 A G 7: 102,035,307 (GRCm39) D95G possibly damaging Het
Taok2 A T 7: 126,475,110 (GRCm39) probably benign Het
Tcof1 T G 18: 60,949,300 (GRCm39) K1205T possibly damaging Het
Trim43c C T 9: 88,729,530 (GRCm39) R325C probably damaging Het
Trub2 T G 2: 29,667,948 (GRCm39) T231P probably damaging Het
Ttn A T 2: 76,641,587 (GRCm39) L5176Q possibly damaging Het
Uty T A Y: 1,152,054 (GRCm39) D724V probably damaging Het
Vmn2r98 A G 17: 19,301,170 (GRCm39) D724G probably damaging Het
Wdfy3 A G 5: 102,023,781 (GRCm39) I2442T possibly damaging Het
Wdfy4 T C 14: 32,795,542 (GRCm39) probably null Het
Zfp280b A G 10: 75,875,444 (GRCm39) H441R probably damaging Het
Zfp60 A T 7: 27,436,400 (GRCm39) Q7L probably damaging Het
Zzef1 T C 11: 72,717,028 (GRCm39) L406S probably 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
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
Predicted Primers PCR Primer
(F):5'- TCCAAAACCAGTGGCTGATTGTAGG -3'
(R):5'- AGACATTGCTTCCATCCAAGCTTCC -3'

Sequencing Primer
(F):5'- AGGTTTTACCTTGCAGAGGAGC -3'
(R):5'- CAGGTGGCTTGTCAGAGTAGC -3'
Posted On 2014-04-24