Incidental Mutation 'LCD18:Magi2'
ID 478172
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
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # LCD18 (G1)
Quality Score 999
Status Validated
Chromosome 5
Chromosomal Location 19432034-20909790 bp(+) (GRCm39)
Type of Mutation intron
DNA Base Change (assembly) T to C at 20159509 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000142581 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000088516] [ENSMUST00000101558] [ENSMUST00000115267] [ENSMUST00000197354] [ENSMUST00000197443] [ENSMUST00000200443]
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 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 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: ENSMUST00000200443
Coding Region Coverage
  • 1x: 0.0%
  • 3x: 0.0%
  • 10x: 0.0%
  • 20x: 0.0%
Validation Efficiency 88% (169/191)
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: 113 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A330008L17Rik A G 8: 100,450,057 (GRCm39) noncoding transcript Het
Aff2 C A X: 68,791,141 (GRCm39) probably benign Het
Aldh1a1 C A 19: 20,604,010 (GRCm39) probably benign Het
Anxa7 C T 14: 20,519,479 (GRCm39) G113E probably damaging Het
Apba2 A T 7: 64,271,908 (GRCm39) probably benign Het
Apc2 G C 10: 80,135,808 (GRCm39) probably benign Het
App C G 16: 84,822,300 (GRCm39) probably benign Het
Asic2 C A 11: 80,876,570 (GRCm39) probably benign Het
Btk T C X: 133,479,574 (GRCm39) probably benign Het
Car12 C A 9: 66,668,958 (GRCm39) probably benign Het
Ccdc121 GAGAAG GAG 5: 31,644,717 (GRCm39) probably benign Het
Ccdc191 G A 16: 43,742,164 (GRCm39) probably benign Het
Ccdc34 N 2: 110,016,318 (GRCm38) probably benign Het
Cd164 G T 10: 41,397,922 (GRCm39) A59S probably benign Het
Cd22 C T 7: 30,577,507 (GRCm39) R2H possibly damaging Het
Cdv3 C A 9: 103,242,553 (GRCm39) probably benign Het
Cdv3 A T 9: 103,242,542 (GRCm39) probably benign Het
Celf2 N 2: 6,779,076 (GRCm38) probably benign Het
Cfap299 G A 5: 98,855,367 (GRCm39) probably benign Het
Clec18a C A 8: 111,802,768 (GRCm39) probably benign Het
Cnpy3 GGATGGAT GGATAGATAGATAGATAGATGGAT 17: 47,048,462 (GRCm39) probably benign Het
Cntn4 A G 6: 106,530,901 (GRCm39) probably benign Het
Cntnap5c G C 17: 58,469,155 (GRCm39) probably benign Het
Col2a1 C A 15: 97,886,862 (GRCm39) probably null Het
Cpne3 G T 4: 19,563,382 (GRCm39) probably benign Het
Cracd GGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG GGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG 5: 76,806,589 (GRCm39) probably benign Het
Dab1 T G 4: 103,903,769 (GRCm39) probably benign Het
Dapp1 G A 3: 137,645,161 (GRCm39) probably benign Het
Dcc G A 18: 72,430,518 (GRCm39) probably benign Het
Dcun1d1 GAAAAAAAAA GAAAAAAAAAA 3: 35,992,154 (GRCm39) probably benign Het
Dennd1b G A 1: 139,042,502 (GRCm39) probably benign Het
Dhdds TAA TA 4: 133,697,674 (GRCm39) probably benign Het
Dnah12 G T 14: 26,571,342 (GRCm39) G2817V probably damaging Het
Dnm3 CATATATATATATATATATATATA CATATATATATATATATATATA 1: 162,234,130 (GRCm39) probably benign Het
Dock10 N 1: 80,716,623 (GRCm38) probably benign Het
Dusp10 G T 1: 183,769,253 (GRCm39) C73F probably damaging Het
Fgf20 A C 8: 40,745,359 (GRCm39) probably benign Het
Ftsj3 G T 11: 106,140,885 (GRCm39) probably benign Het
Gls T G 1: 52,222,526 (GRCm39) probably benign Het
Gm12130 T C 11: 38,397,750 (GRCm39) noncoding transcript Het
Gm14936 G A X: 111,908,447 (GRCm39) noncoding transcript Het
Gm16630 C T 6: 48,118,203 (GRCm39) noncoding transcript Het
Gm22194 AGTGTGTGTGTGTGTGTGTGTGTGTGTGTG AGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG 10: 11,816,707 (GRCm39) noncoding transcript Het
Gm26917 C G 17: 40,154,862 (GRCm39) noncoding transcript Het
Gm35048 GACACACACACACACACACACACACACACACACACACAC GACACACACACACACACACACACACACACACACACAC 1: 90,449,248 (GRCm39) noncoding transcript Het
Gm37311 G A 16: 77,415,169 (GRCm39) noncoding transcript Het
Gm37928 AACACACACACACACACACACACACACACACACA AACACACACACACACACACACACACACACACACACA 3: 118,328,206 (GRCm39) noncoding transcript Het
Gm4302 T C 10: 100,177,306 (GRCm39) W197R probably benign Het
H2-Q4 G A 17: 35,599,381 (GRCm39) D155N probably damaging Het
H2-T23 T C 17: 36,342,108 (GRCm39) probably benign Het
Hgs CTTTTTTT CTTTTTT 11: 120,360,404 (GRCm39) probably benign Het
Ighv5-9 C T 12: 113,625,497 (GRCm39) S82N probably benign Het
Il1rap C A 16: 26,450,343 (GRCm39) probably benign Het
Inhbc N 10: 127,367,140 (GRCm38) probably benign Het
Inpp4b C T 8: 82,419,639 (GRCm39) probably benign Het
Kars1 N 8: 111,993,708 (GRCm38) probably benign Het
Kcng4 G T 8: 120,360,258 (GRCm39) Y39* probably null Het
Kcnh7 A G 2: 62,880,143 (GRCm39) probably benign Het
Klhl1 G C 14: 96,555,166 (GRCm39) probably benign Het
Lrch1 C T 14: 75,142,461 (GRCm39) probably benign Het
Lrp1b G C 2: 42,127,574 (GRCm39) probably benign Het
Lsm8 G A 6: 18,844,315 (GRCm39) probably benign Het
Lsm8 G A 6: 18,854,320 (GRCm39) probably benign Het
Matcap2 N 9: 22,442,083 (GRCm38) probably benign Het
Mef2c G A 13: 83,753,942 (GRCm39) probably benign Het
Mei4 A G 9: 82,069,012 (GRCm39) probably benign Het
Mid1 T A X: 168,788,560 (GRCm39) probably benign Het
Mndal G C 1: 173,707,784 (GRCm39) probably benign Het
Mpped2 C A 2: 106,551,773 (GRCm39) probably benign Het
Mtarc2 TAGGCAGCCAATCAGAGCACTGCCTCTCAGCGCCAGGCAGCCAATCAGAGCACTGCCTCTCAGCGCCAGGCA TAGGCAGCCAATCAGAGCACTGCCTCTCAGCGCCAGGCA 1: 184,554,985 (GRCm39) probably benign Het
Mtf1 A G 4: 124,723,109 (GRCm39) probably benign Het
Mxd1 T C 6: 86,644,388 (GRCm39) probably benign Het
Nbea G T 3: 55,608,948 (GRCm39) probably benign Het
Ncor1 N 11: 62,419,782 (GRCm38) probably benign Het
Nox4 A G 7: 86,892,275 (GRCm39) probably benign Het
Ocln C T 13: 100,657,075 (GRCm39) probably benign Het
Ofcc1 G A 13: 40,246,443 (GRCm39) probably benign Het
Or5af2 T A 11: 58,708,266 (GRCm39) V144D possibly damaging Het
Paics N 5: 76,956,744 (GRCm38) probably null Het
Paqr8 G T 1: 20,984,882 (GRCm39) probably benign Het
Pate9 T C 9: 36,444,849 (GRCm39) probably benign Het
Pdss1 C T 2: 22,790,980 (GRCm39) probably benign Het
Piezo1 G A 8: 123,222,308 (GRCm39) R503W probably damaging Het
Pkhd1 G A 1: 20,681,638 (GRCm39) probably benign Het
Ppp1r3f C A X: 7,426,575 (GRCm39) G562V probably damaging Het
Prr16 C T 18: 51,333,396 (GRCm39) probably benign Het
Prss38 T G 11: 59,266,467 (GRCm39) probably benign Het
Prxl2c G A 13: 64,435,099 (GRCm39) probably benign Het
Ptprk T C 10: 28,450,983 (GRCm39) probably benign Het
Pum1 N 4: 130,730,549 (GRCm38) probably benign Het
Rabgef1 N 5: 130,187,586 (GRCm38) probably null Het
Rgs16 G A 1: 153,619,976 (GRCm39) probably benign Het
Riok3 G T 18: 12,263,039 (GRCm39) probably benign Het
Rn18s-rs5 T C 17: 40,159,446 (GRCm39) noncoding transcript Het
Robo2 N 16: 74,055,954 (GRCm38) probably benign Het
Rps6ka3 A G X: 158,062,211 (GRCm39) probably benign Het
Rptn T A 3: 93,304,848 (GRCm39) L727Q probably benign Het
Slc25a46 C A 18: 31,730,366 (GRCm39) probably benign Het
Spata31f1e T C 4: 42,792,885 (GRCm39) T416A probably benign Het
Spsb1 C T 4: 150,036,943 (GRCm39) probably benign Het
Tbc1d19 A C 5: 53,974,051 (GRCm39) probably benign Het
Trav7-4 C T 14: 53,698,975 (GRCm39) L41F probably benign Het
Trip12 N 1: 84,754,482 (GRCm38) probably benign Het
Ttc13 G A 8: 125,402,605 (GRCm39) probably benign Het
Ttll6 C T 11: 96,046,084 (GRCm39) probably benign Het
Unc5b C G 10: 60,621,950 (GRCm39) probably benign Het
Vmn2r87 C T 10: 130,314,583 (GRCm39) M334I probably benign Het
Vps13b G T 15: 35,847,103 (GRCm39) A2629S probably damaging Het
Wars2 N 3: 99,214,774 (GRCm38) probably null Het
Zdhhc3 AACACACACACACACACACACACACACACACAC AACACACACACACACACACACACACACACACACAC 9: 122,912,087 (GRCm39) probably benign Het
Zfp26 C A 9: 20,349,842 (GRCm39) A241S probably benign Het
Zfp442 C T 2: 150,261,768 (GRCm39) probably benign Het
Zfp808 C T 13: 62,314,465 (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
IGL03329:Magi2 APN 5 20,671,126 (GRCm39) missense possibly damaging 0.95
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
Predicted Primers PCR Primer
(F):5'- CTCCATTCTCCAGCACAGG -3'
(R):5'- CTCATGGTTCCATTGATAACAGTGC -3'

Sequencing Primer
(F):5'- TTCTCCAGCACAGGAAGCTTG -3'
(R):5'- GTTCCATTGATAACAGTGCAGACAG -3'
Posted On 2017-05-26