Incidental Mutation 'R9120:Magi2'
ID 692722
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 068923-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R9120 (G1)
Quality Score 225.009
Status Validated
Chromosome 5
Chromosomal Location 19432034-20909790 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 20733305 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Lysine to Isoleucine at position 525 (K525I)
Ref Sequence ENSEMBL: ENSMUSP00000099094 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000088516] [ENSMUST00000101558] [ENSMUST00000115267] [ENSMUST00000197354] [ENSMUST00000197443] [ENSMUST00000197553] [ENSMUST00000208219]
AlphaFold Q9WVQ1
Predicted Effect possibly damaging
Transcript: ENSMUST00000088516
AA Change: K688I

PolyPhen 2 Score 0.873 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000085872
Gene: ENSMUSG00000040003
AA Change: K688I

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 possibly damaging
Transcript: ENSMUST00000101558
AA Change: K525I

PolyPhen 2 Score 0.808 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000099094
Gene: ENSMUSG00000040003
AA Change: K525I

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 possibly damaging
Transcript: ENSMUST00000115267
AA Change: K525I

PolyPhen 2 Score 0.873 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000110922
Gene: ENSMUSG00000040003
AA Change: K525I

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 damaging
Transcript: ENSMUST00000197354
AA Change: K688I

PolyPhen 2 Score 0.971 (Sensitivity: 0.77; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000142576
Gene: ENSMUSG00000040003
AA Change: K688I

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 possibly damaging
Transcript: ENSMUST00000197443
AA Change: K688I

PolyPhen 2 Score 0.812 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000142764
Gene: ENSMUSG00000040003
AA Change: K688I

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 damaging
Transcript: ENSMUST00000197553
AA Change: K298I

PolyPhen 2 Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)
Predicted Effect possibly damaging
Transcript: ENSMUST00000208219
AA Change: K298I

PolyPhen 2 Score 0.884 (Sensitivity: 0.82; Specificity: 0.94)
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.3%
Validation Efficiency 100% (54/54)
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: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam25 A G 8: 41,209,141 (GRCm39) probably benign Het
Adgrb2 A G 4: 129,906,302 (GRCm39) N910S possibly damaging Het
Arhgap24 A T 5: 103,040,016 (GRCm39) I411F probably benign Het
BC030500 T A 8: 59,365,911 (GRCm39) L15Q unknown Het
BC051665 A G 13: 60,932,916 (GRCm39) V15A probably benign Het
Bicc1 T C 10: 70,776,862 (GRCm39) D732G probably damaging Het
Bpifb1 A G 2: 154,046,692 (GRCm39) I71V probably benign Het
Btnl1 A T 17: 34,598,681 (GRCm39) Q99L possibly damaging Het
Castor1 T A 11: 4,170,767 (GRCm39) V196D possibly damaging Het
Col9a2 G T 4: 120,900,951 (GRCm39) probably benign Het
D7Ertd443e T A 7: 133,871,986 (GRCm39) D625V probably damaging Het
Dchs2 A T 3: 83,187,535 (GRCm39) D1327V probably damaging Het
Ddx1 A G 12: 13,275,458 (GRCm39) V543A possibly damaging Het
Dgkz G T 2: 91,768,545 (GRCm39) D714E probably benign Het
Dlk1 A G 12: 109,424,051 (GRCm39) D105G probably benign Het
Fndc3a A G 14: 72,802,133 (GRCm39) F557L probably benign Het
Gm28042 C T 2: 119,869,462 (GRCm39) L609F probably damaging Het
Gsap A G 5: 21,458,434 (GRCm39) I473V probably damaging Het
Jag1 A T 2: 136,930,354 (GRCm39) M730K probably benign Het
Kazald1 A T 19: 45,065,211 (GRCm39) T31S probably benign Het
Ldhb A G 6: 142,439,935 (GRCm39) W202R probably damaging Het
Lrrcc1 C T 3: 14,615,489 (GRCm39) Q528* probably null Het
Map2 A G 1: 66,453,218 (GRCm39) I703V probably damaging Het
Mdn1 A T 4: 32,701,814 (GRCm39) M1516L probably damaging Het
Mpzl2 T A 9: 44,958,583 (GRCm39) S186R probably benign Het
Mtif2 T C 11: 29,483,951 (GRCm39) M208T probably benign Het
Myo3a T C 2: 22,436,464 (GRCm39) V873A probably benign Het
Or10ac1 A C 6: 42,515,583 (GRCm39) Y124* probably null Het
Or1j4 T A 2: 36,740,143 (GRCm39) Y28* probably null Het
Or5d38 A G 2: 87,955,123 (GRCm39) S69P probably damaging Het
Or5p6 T C 7: 107,630,887 (GRCm39) Y221C probably damaging Het
Or8g51 A G 9: 38,608,735 (GRCm39) F309S probably benign Het
Pgap4 A G 4: 49,587,093 (GRCm39) V25A probably benign Het
Plod2 G T 9: 92,424,380 (GRCm39) probably benign Het
Rgs14 A C 13: 55,528,792 (GRCm39) D311A probably damaging Het
Rin1 C A 19: 5,103,048 (GRCm39) P446T probably damaging Het
Ripor3 T C 2: 167,822,835 (GRCm39) K909E possibly damaging Het
Rnf139 T C 15: 58,771,685 (GRCm39) L570P probably damaging Het
Snx17 A G 5: 31,355,026 (GRCm39) E347G probably damaging Het
Spaca1 A G 4: 34,029,168 (GRCm39) S220P probably damaging Het
Spen G T 4: 141,200,233 (GRCm39) T2798K Het
Tacc1 G T 8: 25,659,255 (GRCm39) S570R probably damaging Het
Tmem135 G C 7: 88,797,186 (GRCm39) L357V probably benign Het
Trim63 G A 4: 134,055,003 (GRCm39) probably benign Het
Trmt2a C A 16: 18,067,722 (GRCm39) R132S probably damaging Het
Ttn T C 2: 76,768,716 (GRCm39) E2952G unknown Het
Tyw1 G A 5: 130,298,065 (GRCm39) R202Q probably damaging Het
Vmn1r211 A T 13: 23,035,936 (GRCm39) F244I probably damaging Het
Vmn2r86 T G 10: 130,289,677 (GRCm39) S73R probably benign Het
Wdr27 A G 17: 15,152,846 (GRCm39) L87P probably damaging Het
Zfp148 A G 16: 33,317,596 (GRCm39) N756S probably benign Het
Zfp57 G A 17: 37,320,650 (GRCm39) R168H 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
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'- TTCCCAGCTGCCAAATGAAG -3'
(R):5'- CCCTGTATTTGAGGACAAGAAAGG -3'

Sequencing Primer
(F):5'- ACATACTTCCCAAGAGATTCCTTGTG -3'
(R):5'- GGCAGAAATGCACACAGGGTC -3'
Posted On 2021-12-30