Incidental Mutation 'R1833:Magi2'
ID 204935
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 039860-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R1833 (G1)
Quality Score 225
Status Validated
Chromosome 5
Chromosomal Location 19432034-20909790 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 19432455 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glycine to Cysteine at position 57 (G57C)
Ref Sequence ENSEMBL: ENSMUSP00000142764 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000088516] [ENSMUST00000197354] [ENSMUST00000197443]
AlphaFold Q9WVQ1
Predicted Effect probably benign
Transcript: ENSMUST00000088516
AA Change: G57C

PolyPhen 2 Score 0.069 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000085872
Gene: ENSMUSG00000040003
AA Change: G57C

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: ENSMUST00000180594
Predicted Effect probably damaging
Transcript: ENSMUST00000197354
AA Change: G57C

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000142576
Gene: ENSMUSG00000040003
AA Change: G57C

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: G57C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000142764
Gene: ENSMUSG00000040003
AA Change: G57C

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 noncoding transcript
Transcript: ENSMUST00000197496
Predicted Effect noncoding transcript
Transcript: ENSMUST00000199384
Predicted Effect noncoding transcript
Transcript: ENSMUST00000200518
Meta Mutation Damage Score 0.4015 question?
Coding Region Coverage
  • 1x: 97.4%
  • 3x: 96.8%
  • 10x: 95.1%
  • 20x: 91.9%
Validation Efficiency 99% (83/84)
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: 79 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700003H04Rik T A 3: 124,350,509 (GRCm39) D143V unknown Het
4930438A08Rik C T 11: 58,179,214 (GRCm39) Q183* probably null Het
9230009I02Rik A G 11: 50,982,293 (GRCm39) noncoding transcript Het
Abhd12 T A 2: 150,690,338 (GRCm39) D119V probably damaging Het
Adam1b A G 5: 121,641,000 (GRCm39) I15T possibly damaging Het
Agtpbp1 A T 13: 59,613,797 (GRCm39) probably null Het
Arfgef1 G C 1: 10,275,115 (GRCm39) I312M probably benign Het
Arid4a C T 12: 71,122,240 (GRCm39) L874F possibly damaging Het
Bcas3 G A 11: 85,474,775 (GRCm39) V317I probably benign Het
Ccr1 T A 9: 123,764,126 (GRCm39) I135F probably damaging Het
Ces2h A G 8: 105,747,005 (GRCm39) E547G possibly damaging Het
Ces3b T A 8: 105,812,271 (GRCm39) D173E probably damaging Het
Chd3 A G 11: 69,244,949 (GRCm39) L1197S probably damaging Het
Cngb1 A G 8: 95,968,983 (GRCm39) L1175P probably damaging Het
Cyp4f17 T C 17: 32,743,184 (GRCm39) F286L probably benign Het
Dclre1a C T 19: 56,529,932 (GRCm39) probably null Het
Dennd6a T A 14: 26,328,109 (GRCm39) L44H probably damaging Het
Dhx16 A G 17: 36,196,511 (GRCm39) T560A probably benign Het
Dusp12 T C 1: 170,702,022 (GRCm39) M326V probably benign Het
Eif3k T C 7: 28,670,852 (GRCm39) I180V probably benign Het
Erc1 A G 6: 119,720,390 (GRCm39) I437T possibly damaging Het
Farp2 T A 1: 93,504,086 (GRCm39) probably benign Het
Foxa3 A G 7: 18,748,499 (GRCm39) L209P probably damaging Het
Garin2 G A 12: 78,762,280 (GRCm39) probably benign Het
Gen1 A T 12: 11,298,352 (GRCm39) probably benign Het
Gm10305 A G 4: 99,161,363 (GRCm39) T91A unknown Het
Gm14412 T C 2: 177,007,583 (GRCm39) D104G probably benign Het
Gm6900 T C 7: 10,390,515 (GRCm39) noncoding transcript Het
Gpx1 A T 9: 108,216,555 (GRCm39) Y15F possibly damaging Het
H2-M10.3 T C 17: 36,678,387 (GRCm39) Y146C probably damaging Het
H2-Q7 C A 17: 35,658,675 (GRCm39) S104R probably benign Het
Hephl1 T C 9: 14,988,224 (GRCm39) Y628C probably damaging Het
Hspa5 T A 2: 34,666,065 (GRCm39) Y636* probably null Het
Htt A G 5: 35,063,092 (GRCm39) probably benign Het
Idh1 T C 1: 65,200,273 (GRCm39) I364V probably benign Het
Itgae G T 11: 73,007,988 (GRCm39) A423S possibly damaging Het
Kng2 T C 16: 22,830,802 (GRCm39) N169S possibly damaging Het
Larp4b C T 13: 9,201,235 (GRCm39) T369I possibly damaging Het
Lcor T C 19: 41,573,387 (GRCm39) I714T probably benign Het
Lhfpl7 A G 5: 113,382,435 (GRCm39) probably benign Het
Lonrf2 G A 1: 38,852,357 (GRCm39) P165S probably benign Het
Mdn1 T A 4: 32,720,761 (GRCm39) H2291Q probably damaging Het
Mgam T C 6: 40,631,652 (GRCm39) probably null Het
Micall2 A G 5: 139,702,508 (GRCm39) V245A probably benign Het
Mipep T G 14: 61,109,512 (GRCm39) Y630D probably damaging Het
Msx2 A T 13: 53,622,221 (GRCm39) M263K probably damaging Het
Nectin2 G T 7: 19,451,633 (GRCm39) P467H probably damaging Het
Nek10 A T 14: 14,842,789 (GRCm38) M165L probably benign Het
Nlrp4b A T 7: 10,459,863 (GRCm39) M455L probably benign Het
Oaz3 TGGAGGCAGGAGCACGGGAGGCAGGAGCACGGGAGGCAG TGGAGGCAGGAGCACGGGAGGCAG 3: 94,343,349 (GRCm39) probably benign Het
Or10ad1b T A 15: 98,124,846 (GRCm39) I227F probably damaging Het
Or4c10 T A 2: 89,760,645 (GRCm39) L164* probably null Het
Pcx T A 19: 4,669,132 (GRCm39) V710E probably damaging Het
Pkn2 C T 3: 142,527,408 (GRCm39) R347Q probably damaging Het
Pramel51 T C 12: 88,145,218 (GRCm39) E44G possibly damaging Het
Qsox1 C T 1: 155,666,791 (GRCm39) G233S probably benign Het
Rbl1 T A 2: 157,037,475 (GRCm39) N224I probably damaging Het
Rspry1 A G 8: 95,362,116 (GRCm39) T132A probably damaging Het
Sclt1 A G 3: 41,681,546 (GRCm39) V91A probably damaging Het
Sema4f A T 6: 82,895,540 (GRCm39) L331H probably benign Het
Sf3b3 T A 8: 111,544,198 (GRCm39) Q814L probably benign Het
Slc19a2 T G 1: 164,089,753 (GRCm39) Y190D probably damaging Het
Smarcc1 T A 9: 109,982,879 (GRCm39) H204Q possibly damaging Het
Sox6 T C 7: 115,376,328 (GRCm39) K135E probably damaging Het
Tecpr1 T C 5: 144,145,426 (GRCm39) Q607R probably damaging Het
Tgfb1i1 A G 7: 127,848,670 (GRCm39) probably benign Het
Tirap T G 9: 35,099,999 (GRCm39) R228S probably benign Het
Trp53bp2 T A 1: 182,256,581 (GRCm39) H50Q probably damaging Het
Try4 A G 6: 41,280,365 (GRCm39) H63R probably damaging Het
Vmn2r25 G A 6: 123,816,643 (GRCm39) P313S probably benign Het
Vps26a A C 10: 62,294,825 (GRCm39) L250V probably benign Het
Vwf A G 6: 125,619,000 (GRCm39) H1226R probably benign Het
Wdtc1 TCC TC 4: 133,036,053 (GRCm39) probably benign Het
Zc3hav1l A T 6: 38,274,881 (GRCm39) probably benign Het
Zfp119b T G 17: 56,246,271 (GRCm39) H305P probably damaging Het
Zfp326 C T 5: 106,039,035 (GRCm39) Q134* probably null Het
Zfp975 C T 7: 42,311,263 (GRCm39) R450Q probably benign Het
Zfyve26 A T 12: 79,333,032 (GRCm39) M313K probably benign Het
Zscan5b T C 7: 6,241,965 (GRCm39) S395P 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
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'- TTCCCAAAGGACCCTCTGGAAC -3'
(R):5'- TGTTAATGCCATCCCCACGC -3'

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