Incidental Mutation 'R5992:Magi2'
ID 480876
Institutional Source Beutler Lab
Gene Symbol Magi2
Ensembl Gene ENSMUSG00000040003
Gene Name membrane associated guanylate kinase, WW and PDZ domain containing 2
Synonyms Magi-2, S-SCAM, Acvrinp1
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R5992 (G1)
Quality Score 225.009
Status Not validated
Chromosome 5
Chromosomal Location 19227036-20704792 bp(+) (GRCm38)
Type of Mutation start codon destroyed
DNA Base Change (assembly) G to A at 19227291 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Methionine to Isoleucine at position 1 (M1I)
Ref Sequence ENSEMBL: ENSMUSP00000085872 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000088516] [ENSMUST00000197354] [ENSMUST00000197443]
AlphaFold Q9WVQ1
Predicted Effect probably null
Transcript: ENSMUST00000088516
AA Change: M1I

PolyPhen 2 Score 0.421 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000085872
Gene: ENSMUSG00000040003
AA Change: M1I

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 null
Transcript: ENSMUST00000197354
AA Change: M1I

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000142576
Gene: ENSMUSG00000040003
AA Change: M1I

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 null
Transcript: ENSMUST00000197443
AA Change: M1I

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000142764
Gene: ENSMUSG00000040003
AA Change: M1I

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
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.5%
  • 10x: 97.4%
  • 20x: 91.9%
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: 73 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aars2 T A 17: 45,508,623 (GRCm38) L188* probably null Het
Acod1 C T 14: 103,055,035 (GRCm38) R332C probably damaging Het
Adamts3 T A 5: 89,691,335 (GRCm38) K852M probably damaging Het
Adm A T 7: 110,627,696 (GRCm38) probably benign Het
Aff4 A G 11: 53,373,010 (GRCm38) S286G probably damaging Het
Ank2 A G 3: 126,959,651 (GRCm38) probably null Het
Aqr A T 2: 114,143,049 (GRCm38) Y427* probably null Het
Arid1b C A 17: 4,994,956 (GRCm38) probably benign Het
Arpp21 T A 9: 112,143,485 (GRCm38) R259* probably null Het
Cep290 C T 10: 100,543,321 (GRCm38) A55V possibly damaging Het
Chsy3 GT G 18: 59,176,166 (GRCm38) 163 probably null Het
Clcn2 T C 16: 20,713,654 (GRCm38) E68G possibly damaging Het
Corin T A 5: 72,316,389 (GRCm38) H699L probably benign Het
Cyld T C 8: 88,733,053 (GRCm38) Y446H probably damaging Het
Dcst1 T A 3: 89,352,576 (GRCm38) E613V probably damaging Het
Dlk1 T C 12: 109,455,581 (GRCm38) C74R probably damaging Het
Dnah12 A C 14: 26,697,341 (GRCm38) K128T probably benign Het
Dspp T A 5: 104,178,451 (GRCm38) S893R unknown Het
Dtl A T 1: 191,568,572 (GRCm38) probably null Het
F2rl1 T A 13: 95,514,270 (GRCm38) S35C probably benign Het
Fcgbp A T 7: 28,120,534 (GRCm38) Y2562F probably benign Het
Fgf10 A T 13: 118,715,508 (GRCm38) D42V probably benign Het
Gm10271 A T 10: 116,972,592 (GRCm38) F6L probably damaging Het
Gm21190 T A 5: 15,524,851 (GRCm38) E256D probably damaging Het
Gm5157 A G 7: 21,185,421 (GRCm38) S66P probably damaging Het
Gm884 A T 11: 103,613,792 (GRCm38) M2450K possibly damaging Het
Hal T G 10: 93,490,916 (GRCm38) L138R probably damaging Het
Hsd17b3 T C 13: 64,059,470 (GRCm38) probably null Het
Lrsam1 T C 2: 32,955,222 (GRCm38) T94A probably benign Het
Macc1 T C 12: 119,447,585 (GRCm38) V696A probably damaging Het
March7 C A 2: 60,245,220 (GRCm38) N674K probably benign Het
Mfap1b A G 2: 121,470,295 (GRCm38) V34A probably benign Het
Mob3b G A 4: 35,084,069 (GRCm38) S40L probably benign Het
Ndufs2 A T 1: 171,236,418 (GRCm38) V386E probably damaging Het
Nfic C T 10: 81,420,747 (GRCm38) A19T probably damaging Het
Nfs1 G A 2: 156,134,453 (GRCm38) R174W probably damaging Het
Nin G T 12: 70,045,524 (GRCm38) S670R possibly damaging Het
Nrxn1 T C 17: 90,623,507 (GRCm38) I754V probably benign Het
Nwd1 T C 8: 72,653,573 (GRCm38) probably null Het
Olfr1231 T A 2: 89,303,359 (GRCm38) T78S possibly damaging Het
Olfr1238 T A 2: 89,406,879 (GRCm38) M67L probably benign Het
Olfr575 G T 7: 102,955,009 (GRCm38) N197K probably benign Het
Pcdhgb8 A G 18: 37,763,449 (GRCm38) E524G probably damaging Het
Phlpp1 A T 1: 106,318,993 (GRCm38) R638* probably null Het
Pkmyt1 G C 17: 23,735,326 (GRCm38) W360S probably benign Het
Plxnd1 C A 6: 115,967,787 (GRCm38) probably null Het
Poldip3 A T 15: 83,129,229 (GRCm38) N322K probably damaging Het
Prmt3 A T 7: 49,828,947 (GRCm38) I419L probably benign Het
Prss36 A T 7: 127,944,830 (GRCm38) V123E probably damaging Het
Prss58 A G 6: 40,897,769 (GRCm38) I46T probably damaging Het
Rac1 T C 5: 143,506,998 (GRCm38) probably benign Het
Rb1cc1 A G 1: 6,233,996 (GRCm38) Y36C probably damaging Het
Rif1 C G 2: 52,095,844 (GRCm38) L614V probably damaging Het
Rnd2 C T 11: 101,468,999 (GRCm38) L57F probably damaging Het
Rp1 A T 1: 4,148,703 (GRCm38) F951L unknown Het
Rps6ka5 G T 12: 100,575,250 (GRCm38) P417T possibly damaging Het
Ryr1 A G 7: 29,067,637 (GRCm38) W2967R probably damaging Het
Sacs T A 14: 61,205,543 (GRCm38) S1679R probably damaging Het
Scn1a A C 2: 66,335,456 (GRCm38) W153G probably damaging Het
Serpinb7 A G 1: 107,445,996 (GRCm38) Y114C probably damaging Het
Son T C 16: 91,658,904 (GRCm38) M1513T probably benign Het
Spag8 C T 4: 43,651,534 (GRCm38) V447M probably benign Het
St3gal2 T A 8: 110,969,553 (GRCm38) Y257N probably damaging Het
Tars A T 15: 11,397,196 (GRCm38) D40E probably damaging Het
Tlr3 T C 8: 45,397,814 (GRCm38) H158R probably benign Het
Tppp2 G T 14: 51,918,935 (GRCm38) V50L probably benign Het
Trrap T C 5: 144,810,184 (GRCm38) S1503P probably benign Het
Ttll4 T G 1: 74,685,391 (GRCm38) S573R probably damaging Het
Vmn2r104 A T 17: 20,029,485 (GRCm38) N841K probably damaging Het
Vmn2r3 A T 3: 64,259,647 (GRCm38) C688S probably damaging Het
Vps16 T C 2: 130,424,449 (GRCm38) probably null Het
Zfp608 G A 18: 54,899,248 (GRCm38) T540I probably benign Het
Zfp775 G A 6: 48,619,816 (GRCm38) R208Q probably damaging Het
Other mutations in Magi2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00908:Magi2 APN 5 20,391,301 (GRCm38) missense probably benign 0.05
IGL02120:Magi2 APN 5 20,228,453 (GRCm38) critical splice donor site probably null
IGL02341:Magi2 APN 5 20,466,203 (GRCm38) missense probably damaging 1.00
IGL02411:Magi2 APN 5 19,678,709 (GRCm38) missense probably damaging 1.00
IGL02657:Magi2 APN 5 19,227,583 (GRCm38) missense probably damaging 0.99
IGL02976:Magi2 APN 5 20,534,475 (GRCm38) missense probably damaging 1.00
IGL03105:Magi2 APN 5 20,543,618 (GRCm38) missense probably damaging 0.97
IGL03246:Magi2 APN 5 20,358,950 (GRCm38) missense probably damaging 1.00
IGL03329:Magi2 APN 5 20,466,128 (GRCm38) missense possibly damaging 0.95
LCD18:Magi2 UTSW 5 19,954,511 (GRCm38) intron probably benign
PIT4519001:Magi2 UTSW 5 20,661,346 (GRCm38) missense probably damaging 1.00
R0009:Magi2 UTSW 5 20,611,055 (GRCm38) missense probably benign 0.15
R0009:Magi2 UTSW 5 20,611,055 (GRCm38) missense probably benign 0.15
R0352:Magi2 UTSW 5 20,065,666 (GRCm38) missense probably damaging 1.00
R0362:Magi2 UTSW 5 19,227,575 (GRCm38) missense probably damaging 1.00
R0496:Magi2 UTSW 5 20,661,359 (GRCm38) splice site probably benign
R1103:Magi2 UTSW 5 20,611,103 (GRCm38) missense probably damaging 1.00
R1435:Magi2 UTSW 5 20,358,945 (GRCm38) missense probably damaging 1.00
R1583:Magi2 UTSW 5 19,227,332 (GRCm38) missense probably benign 0.30
R1616:Magi2 UTSW 5 20,609,326 (GRCm38) missense probably damaging 1.00
R1643:Magi2 UTSW 5 20,705,506 (GRCm38) unclassified probably benign
R1707:Magi2 UTSW 5 20,215,493 (GRCm38) missense probably damaging 1.00
R1833:Magi2 UTSW 5 19,227,457 (GRCm38) missense probably damaging 1.00
R1837:Magi2 UTSW 5 20,465,827 (GRCm38) missense probably damaging 1.00
R1838:Magi2 UTSW 5 20,465,827 (GRCm38) missense probably damaging 1.00
R1839:Magi2 UTSW 5 20,465,827 (GRCm38) missense probably damaging 1.00
R1847:Magi2 UTSW 5 20,602,460 (GRCm38) missense probably damaging 0.99
R2223:Magi2 UTSW 5 20,465,672 (GRCm38) missense probably damaging 1.00
R2496:Magi2 UTSW 5 19,678,752 (GRCm38) missense probably benign 0.42
R2504:Magi2 UTSW 5 20,358,936 (GRCm38) missense probably damaging 1.00
R2848:Magi2 UTSW 5 20,602,461 (GRCm38) frame shift probably null
R2879:Magi2 UTSW 5 20,602,461 (GRCm38) frame shift probably null
R2935:Magi2 UTSW 5 20,602,461 (GRCm38) frame shift probably null
R2936:Magi2 UTSW 5 20,602,461 (GRCm38) frame shift probably null
R3694:Magi2 UTSW 5 20,602,461 (GRCm38) frame shift probably null
R3783:Magi2 UTSW 5 20,465,909 (GRCm38) missense probably damaging 0.97
R3786:Magi2 UTSW 5 20,465,909 (GRCm38) missense probably damaging 0.97
R3787:Magi2 UTSW 5 20,465,909 (GRCm38) missense probably damaging 0.97
R3837:Magi2 UTSW 5 20,215,468 (GRCm38) missense probably benign 0.28
R4151:Magi2 UTSW 5 19,227,292 (GRCm38) missense probably damaging 0.97
R4721:Magi2 UTSW 5 20,534,469 (GRCm38) missense probably damaging 1.00
R5005:Magi2 UTSW 5 20,534,446 (GRCm38) missense probably damaging 0.98
R5012:Magi2 UTSW 5 20,465,620 (GRCm38) missense probably damaging 0.99
R5193:Magi2 UTSW 5 20,358,972 (GRCm38) critical splice donor site probably null
R5298:Magi2 UTSW 5 20,569,162 (GRCm38) missense probably damaging 1.00
R5372:Magi2 UTSW 5 20,702,110 (GRCm38) missense possibly damaging 0.82
R5580:Magi2 UTSW 5 20,215,424 (GRCm38) missense probably benign 0.03
R5806:Magi2 UTSW 5 20,651,204 (GRCm38) missense probably benign 0.01
R5924:Magi2 UTSW 5 20,611,069 (GRCm38) missense probably benign 0.00
R6014:Magi2 UTSW 5 20,611,093 (GRCm38) missense probably damaging 1.00
R6073:Magi2 UTSW 5 20,569,288 (GRCm38) missense probably damaging 1.00
R6500:Magi2 UTSW 5 20,602,347 (GRCm38) missense possibly damaging 0.94
R6664:Magi2 UTSW 5 20,702,397 (GRCm38) missense probably benign 0.00
R7229:Magi2 UTSW 5 20,465,588 (GRCm38) missense probably damaging 1.00
R7344:Magi2 UTSW 5 20,550,240 (GRCm38) missense probably benign 0.19
R7448:Magi2 UTSW 5 20,358,956 (GRCm38) missense probably damaging 1.00
R7605:Magi2 UTSW 5 20,228,385 (GRCm38) missense probably damaging 1.00
R7712:Magi2 UTSW 5 20,550,282 (GRCm38) missense possibly damaging 0.78
R7808:Magi2 UTSW 5 20,465,840 (GRCm38) missense probably benign 0.03
R7955:Magi2 UTSW 5 20,389,072 (GRCm38) missense probably damaging 1.00
R8134:Magi2 UTSW 5 20,391,394 (GRCm38) missense probably benign 0.03
R8134:Magi2 UTSW 5 20,391,367 (GRCm38) missense probably damaging 1.00
R8253:Magi2 UTSW 5 20,609,307 (GRCm38) missense probably benign 0.44
R8481:Magi2 UTSW 5 20,389,154 (GRCm38) missense possibly damaging 0.91
R8553:Magi2 UTSW 5 20,651,200 (GRCm38) missense probably benign 0.00
R8751:Magi2 UTSW 5 20,534,464 (GRCm38) missense probably benign
R8766:Magi2 UTSW 5 20,195,125 (GRCm38) missense probably benign 0.33
R8851:Magi2 UTSW 5 20,065,620 (GRCm38) missense probably damaging 1.00
R8876:Magi2 UTSW 5 20,651,192 (GRCm38) nonsense probably null
R9120:Magi2 UTSW 5 20,528,307 (GRCm38) missense possibly damaging 0.81
R9335:Magi2 UTSW 5 20,661,265 (GRCm38) missense
R9367:Magi2 UTSW 5 20,561,310 (GRCm38) missense probably damaging 0.97
R9454:Magi2 UTSW 5 20,466,178 (GRCm38) missense probably damaging 0.97
R9474:Magi2 UTSW 5 20,195,021 (GRCm38) missense probably benign 0.00
R9577:Magi2 UTSW 5 20,609,284 (GRCm38) missense probably damaging 1.00
R9673:Magi2 UTSW 5 20,465,584 (GRCm38) missense possibly damaging 0.86
R9696:Magi2 UTSW 5 20,465,866 (GRCm38) missense probably benign 0.35
X0065:Magi2 UTSW 5 20,569,178 (GRCm38) missense possibly damaging 0.94
Z1176:Magi2 UTSW 5 20,702,109 (GRCm38) missense probably benign 0.32
Z1177:Magi2 UTSW 5 20,702,412 (GRCm38) missense probably benign
Predicted Primers PCR Primer
(F):5'- TGTCATTCAAGGGACAGCACAAC -3'
(R):5'- CGCTTTCATAGGCCACCTTG -3'

Sequencing Primer
(F):5'- CTACCTCTGCCCAGCCG -3'
(R):5'- ACCTTGCCCGGCTTCAC -3'
Posted On 2017-06-26