Incidental Mutation 'R9335:Magi2'
ID 707061
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
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R9335 (G1)
Quality Score 225.009
Status Not validated
Chromosome 5
Chromosomal Location 19432034-20909790 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 20866263 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Aspartic acid at position 176 (N176D)
Gene Model predicted gene model for transcript(s): [ENSMUST00000088516] [ENSMUST00000101558] [ENSMUST00000115267] [ENSMUST00000197354] [ENSMUST00000197443]
AlphaFold Q9WVQ1
Predicted Effect silent
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 silent
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 silent
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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.4%
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: 77 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4932438H23Rik G T 16: 90,852,830 (GRCm39) T102K probably damaging Het
Afm A T 5: 90,698,086 (GRCm39) D496V probably damaging Het
Aldh1l2 C T 10: 83,342,510 (GRCm39) M546I probably damaging Het
Apol7c G T 15: 77,409,889 (GRCm39) N352K probably benign Het
Arfgef1 A T 1: 10,228,236 (GRCm39) D1319E probably damaging Het
Atl2 A G 17: 80,160,207 (GRCm39) I460T probably benign Het
Brms1l C A 12: 55,888,431 (GRCm39) T73K possibly damaging Het
C1rl A T 6: 124,482,341 (GRCm39) H154L probably benign Het
Cacna2d4 T A 6: 119,279,014 (GRCm39) L709Q probably damaging Het
Cd101 A T 3: 100,915,431 (GRCm39) V716D probably benign Het
Cd177 A G 7: 24,443,711 (GRCm39) S796P probably benign Het
D430041D05Rik A T 2: 104,078,674 (GRCm39) M530K probably damaging Het
Dcbld2 A T 16: 58,272,141 (GRCm39) Q399L probably benign Het
Dennd4b T C 3: 90,175,611 (GRCm39) Y138H probably damaging Het
Dmxl1 A G 18: 49,992,187 (GRCm39) N311S probably damaging Het
Dnai2 A G 11: 114,625,489 (GRCm39) I107V probably benign Het
Dync2h1 A C 9: 7,112,149 (GRCm39) V2480G possibly damaging Het
Ect2l T A 10: 18,077,032 (GRCm39) T24S probably null Het
Egfr C A 11: 16,820,991 (GRCm39) T302K probably damaging Het
Eid1 T G 2: 125,515,578 (GRCm39) I156S possibly damaging Het
Elmod1 A T 9: 53,843,116 (GRCm39) W21R probably benign Het
Enah G A 1: 181,749,450 (GRCm39) P463L probably damaging Het
Epha7 A G 4: 28,966,529 (GRCm39) Y602C probably benign Het
Ermap T A 4: 119,035,545 (GRCm39) Y481F probably damaging Het
Fam114a2 G T 11: 57,397,748 (GRCm39) T231N possibly damaging Het
Gdap1 A G 1: 17,231,389 (GRCm39) T245A probably benign Het
Glmp T A 3: 88,235,563 (GRCm39) V368D probably damaging Het
Gm10203 C T 6: 149,031,815 (GRCm39) A40V unknown Het
Gm4553 ACCCTTGCAGCCACCACAGGAGCCACAGCCCCCACAGGAGCTACAGCCTCCCTTGCAGCCACCACAGGAGCCACAGCCCCCACAGGAGCTACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCC ACCCTTGCAGCCACCACAGGAGCCACAGCCCCCACAGGAGCTACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCC 7: 141,719,157 (GRCm39) probably benign Het
Grid1 G A 14: 35,043,664 (GRCm39) D340N probably damaging Het
Hao2 C A 3: 98,791,010 (GRCm39) V55L possibly damaging Het
Hemgn A T 4: 46,394,647 (GRCm39) S488T probably benign Het
Ighv12-3 C T 12: 114,330,312 (GRCm39) G61E probably damaging Het
Itga2b T C 11: 102,346,478 (GRCm39) E986G probably damaging Het
Laptm5 T G 4: 130,656,839 (GRCm39) S167A Het
Lmtk3 A T 7: 45,442,165 (GRCm39) Y377F probably damaging Het
Lrp2 A G 2: 69,258,983 (GRCm39) I4569T probably benign Het
Mcf2l C A 8: 13,050,812 (GRCm39) H356N possibly damaging Het
Mettl4 T A 17: 95,042,936 (GRCm39) Y300F probably damaging Het
Naaladl2 T G 3: 24,467,532 (GRCm39) K307N possibly damaging Het
Or1a1b T A 11: 74,097,832 (GRCm39) D70V probably damaging Het
Or2aj4 G A 16: 19,385,513 (GRCm39) T40I probably benign Het
Or51ag1 C T 7: 103,155,727 (GRCm39) R142H probably benign Het
Or6c8b C T 10: 128,882,614 (GRCm39) G106E probably damaging Het
Phip T A 9: 82,814,979 (GRCm39) M248L probably benign Het
Picalm A G 7: 89,825,491 (GRCm39) T300A probably benign Het
Ppa1 T G 10: 61,484,562 (GRCm39) V19G possibly damaging Het
Ppp4r3a T C 12: 101,007,013 (GRCm39) Y793C probably damaging Het
Prlr A T 15: 10,325,357 (GRCm39) I177F probably benign Het
Prodh C A 16: 17,894,160 (GRCm39) G457V probably damaging Het
Prrt3 T C 6: 113,475,058 (GRCm39) K55E probably benign Het
Prx G T 7: 27,217,496 (GRCm39) V805L probably damaging Het
Ptk6 T G 2: 180,844,146 (GRCm39) D51A probably damaging Het
Rec114 T A 9: 58,565,041 (GRCm39) Q205L probably null Het
Rfwd3 T G 8: 112,006,567 (GRCm39) K510Q possibly damaging Het
Sdhb C T 4: 140,700,250 (GRCm39) R117C probably benign Het
Serinc2 T G 4: 130,158,220 (GRCm39) T21P probably benign Het
Serpinb3a A C 1: 106,974,886 (GRCm39) F216V probably damaging Het
Sertm1 T C 3: 54,806,929 (GRCm39) D32G probably damaging Het
Setx A G 2: 29,035,963 (GRCm39) D816G probably benign Het
Sfxn4 T A 19: 60,839,494 (GRCm39) N188I probably damaging Het
Slc26a4 T C 12: 31,575,553 (GRCm39) D711G probably damaging Het
Sp9 T C 2: 73,104,621 (GRCm39) F392L probably damaging Het
Ssbp1 T C 6: 40,454,955 (GRCm39) L138P probably damaging Het
Sv2a G A 3: 96,092,588 (GRCm39) G96E probably damaging Het
Tbc1d9 G T 8: 83,937,160 (GRCm39) G81C possibly damaging Het
Tmem67 G A 4: 12,040,640 (GRCm39) Q968* probably null Het
Tnni2 T C 7: 141,998,003 (GRCm39) S169P probably damaging Het
Tpk1 T C 6: 43,446,084 (GRCm39) probably null Het
Unc13b T A 4: 43,216,123 (GRCm39) Y141N possibly damaging Het
Unc13b A T 4: 43,255,551 (GRCm39) E1057D probably damaging Het
Usf3 G T 16: 44,041,936 (GRCm39) G2139C probably damaging Het
Vmn1r36 A T 6: 66,693,430 (GRCm39) Y148* probably null Het
Vmn2r42 A C 7: 8,197,758 (GRCm39) M287R probably damaging Het
Vmn2r60 A T 7: 41,844,332 (GRCm39) H565L probably damaging Het
Zfp518a G A 19: 40,901,225 (GRCm39) V385I probably benign Het
Zfp974 A T 7: 27,611,476 (GRCm39) M83K 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
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
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'- TCACTTTGTTGCATGCCTGATAG -3'
(R):5'- AATGCTCTCCAGAACTCTAGC -3'

Sequencing Primer
(F):5'- CATGCCTGATAGGGTTAGCTTTAC -3'
(R):5'- GCAGCAATTAGACAAGCTACTATG -3'
Posted On 2022-04-18