Incidental Mutation 'IGL01066:Agrn'
ID 50841
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Agrn
Ensembl Gene ENSMUSG00000041936
Gene Name agrin
Synonyms Agrin, NMF380, nmf380
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.430) question?
Stock # IGL01066
Quality Score
Status
Chromosome 4
Chromosomal Location 156249747-156281945 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 156261800 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 497 (S497P)
Ref Sequence ENSEMBL: ENSMUSP00000137931 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000071248] [ENSMUST00000105574] [ENSMUST00000105575] [ENSMUST00000180572]
AlphaFold A2ASQ1
Predicted Effect probably benign
Transcript: ENSMUST00000071248
AA Change: S390P

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000071229
Gene: ENSMUSG00000041936
AA Change: S390P

DomainStartEndE-ValueType
transmembrane domain 25 47 N/A INTRINSIC
FOLN 66 91 8.25e-6 SMART
KAZAL 91 137 1.22e-17 SMART
FOLN 142 166 7.58e-5 SMART
EGF_like 142 181 7.38e1 SMART
KAZAL 166 212 1.51e-13 SMART
KAZAL 241 284 1.8e-6 SMART
KAZAL 310 356 1.55e-10 SMART
FOLN 362 384 8.25e-6 SMART
KAZAL 384 429 1.14e-17 SMART
KAZAL 449 494 6.43e-17 SMART
FOLN 496 519 2.94e-2 SMART
KAZAL 507 559 8.96e-16 SMART
low complexity region 565 572 N/A INTRINSIC
KAZAL 599 645 1.12e-16 SMART
EGF_Lam 688 739 3.29e-15 SMART
EGF_Lam 742 786 6.7e-7 SMART
FOLN 795 817 1.94e-2 SMART
KAZAL 817 864 3.9e-16 SMART
low complexity region 889 906 N/A INTRINSIC
low complexity region 949 978 N/A INTRINSIC
SEA 1014 1139 5.57e-35 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000105574
AA Change: S390P

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000101199
Gene: ENSMUSG00000041936
AA Change: S390P

DomainStartEndE-ValueType
transmembrane domain 25 47 N/A INTRINSIC
FOLN 66 91 8.25e-6 SMART
KAZAL 91 137 1.22e-17 SMART
FOLN 142 166 7.58e-5 SMART
EGF_like 142 181 7.38e1 SMART
KAZAL 166 212 1.51e-13 SMART
KAZAL 241 284 1.8e-6 SMART
KAZAL 310 356 1.55e-10 SMART
FOLN 362 384 8.25e-6 SMART
KAZAL 384 429 1.14e-17 SMART
KAZAL 449 494 6.43e-17 SMART
FOLN 496 519 2.94e-2 SMART
KAZAL 507 559 8.96e-16 SMART
low complexity region 565 572 N/A INTRINSIC
KAZAL 599 645 1.12e-16 SMART
EGF_Lam 688 739 3.29e-15 SMART
EGF_Lam 742 786 6.7e-7 SMART
FOLN 795 817 1.94e-2 SMART
KAZAL 817 864 3.9e-16 SMART
low complexity region 889 906 N/A INTRINSIC
low complexity region 949 978 N/A INTRINSIC
SEA 1014 1136 2.26e-35 SMART
low complexity region 1142 1169 N/A INTRINSIC
low complexity region 1183 1198 N/A INTRINSIC
EGF 1214 1249 1.49e-4 SMART
LamG 1274 1410 4e-45 SMART
EGF 1434 1468 2.23e-3 SMART
EGF 1473 1507 7.13e-2 SMART
LamG 1542 1678 6.51e-36 SMART
EGF 1699 1735 4.35e-6 SMART
LamG 1771 1907 5.01e-37 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000105575
AA Change: S390P

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000101200
Gene: ENSMUSG00000041936
AA Change: S390P

DomainStartEndE-ValueType
transmembrane domain 25 47 N/A INTRINSIC
FOLN 66 91 8.25e-6 SMART
KAZAL 91 137 1.22e-17 SMART
FOLN 142 166 7.58e-5 SMART
EGF_like 142 181 7.38e1 SMART
KAZAL 166 212 1.51e-13 SMART
KAZAL 241 284 1.8e-6 SMART
KAZAL 310 356 1.55e-10 SMART
FOLN 362 384 8.25e-6 SMART
KAZAL 384 429 1.14e-17 SMART
KAZAL 449 494 6.43e-17 SMART
FOLN 496 519 2.94e-2 SMART
KAZAL 507 559 8.96e-16 SMART
low complexity region 565 572 N/A INTRINSIC
KAZAL 599 645 1.12e-16 SMART
EGF_Lam 688 739 3.29e-15 SMART
EGF_Lam 742 786 6.7e-7 SMART
FOLN 795 817 1.94e-2 SMART
KAZAL 817 864 3.9e-16 SMART
low complexity region 889 906 N/A INTRINSIC
low complexity region 949 978 N/A INTRINSIC
SEA 1014 1136 2.26e-35 SMART
low complexity region 1142 1169 N/A INTRINSIC
low complexity region 1183 1198 N/A INTRINSIC
EGF 1214 1249 1.49e-4 SMART
LamG 1274 1410 4e-45 SMART
EGF 1434 1468 2.23e-3 SMART
EGF 1473 1507 7.13e-2 SMART
LamG 1542 1682 9.2e-36 SMART
EGF 1703 1739 4.35e-6 SMART
LamG 1794 1930 5.01e-37 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000144749
Predicted Effect probably benign
Transcript: ENSMUST00000180572
AA Change: S497P

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000137931
Gene: ENSMUSG00000041936
AA Change: S497P

DomainStartEndE-ValueType
signal peptide 1 31 N/A INTRINSIC
Pfam:NtA 32 159 5.1e-91 PFAM
FOLN 173 198 8.25e-6 SMART
KAZAL 198 244 1.22e-17 SMART
FOLN 249 273 7.58e-5 SMART
EGF_like 249 288 7.38e1 SMART
KAZAL 273 319 1.51e-13 SMART
KAZAL 348 391 1.8e-6 SMART
KAZAL 417 463 1.55e-10 SMART
FOLN 469 491 8.25e-6 SMART
KAZAL 491 536 1.14e-17 SMART
KAZAL 556 601 6.43e-17 SMART
FOLN 603 626 2.94e-2 SMART
KAZAL 614 666 8.96e-16 SMART
low complexity region 672 679 N/A INTRINSIC
KAZAL 706 752 1.12e-16 SMART
EGF_Lam 795 846 3.29e-15 SMART
EGF_Lam 849 893 6.7e-7 SMART
FOLN 902 924 1.94e-2 SMART
KAZAL 924 971 3.9e-16 SMART
low complexity region 996 1013 N/A INTRINSIC
low complexity region 1056 1085 N/A INTRINSIC
SEA 1121 1243 2.26e-35 SMART
low complexity region 1249 1276 N/A INTRINSIC
low complexity region 1290 1305 N/A INTRINSIC
EGF 1321 1356 1.49e-4 SMART
LamG 1381 1517 4e-45 SMART
EGF 1541 1575 2.23e-3 SMART
EGF 1580 1614 7.13e-2 SMART
LamG 1649 1785 6.51e-36 SMART
EGF 1806 1842 4.35e-6 SMART
LamG 1878 2014 5.01e-37 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000181062
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes one of several proteins that are critical in the development of the neuromuscular junction (NMJ), as identified in mouse knock-out studies. The encoded protein contains several laminin G, Kazal type serine protease inhibitor, and epidermal growth factor domains. Additional post-translational modifications occur to add glycosaminoglycans and disulfide bonds. In one family with congenital myasthenic syndrome affecting limb-girdle muscles, a mutation in this gene was found. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Mar 2015]
PHENOTYPE: Nullizygous mice display embryonic failure of NMJ formation, inability to breathe or move and perinatal lethality. Homozygotes for an ENU-induced allele show poor hindlimb motor control, myopathy, muscle atrophy, spasms and fiber-type switching, NMJ disaggregation, camptodactyly and premature death. [provided by MGI curators]
Allele List at MGI

All alleles(12) : Targeted, knock-out(4) Targeted, other(1) Gene trapped(7)

Other mutations in this stock
Total: 58 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1110038F14Rik G A 15: 76,834,475 (GRCm39) V124I probably damaging Het
2300003K06Rik T A 11: 99,728,454 (GRCm39) R130* probably null Het
Abca12 T A 1: 71,392,889 (GRCm39) R117W possibly damaging Het
Alpk1 A T 3: 127,473,874 (GRCm39) S710T probably benign Het
Anapc4 T A 5: 53,014,551 (GRCm39) N471K probably benign Het
Ano3 A T 2: 110,491,790 (GRCm39) M879K probably null Het
Apoe A G 7: 19,430,525 (GRCm39) L239P probably damaging Het
Ash1l T C 3: 88,891,942 (GRCm39) Y1274H probably damaging Het
B3glct C T 5: 149,632,890 (GRCm39) T80I possibly damaging Het
Ccdc146 T C 5: 21,524,540 (GRCm39) T271A probably benign Het
Chd8 T A 14: 52,455,223 (GRCm39) N1088I probably damaging Het
Csnk1g2 T C 10: 80,470,481 (GRCm39) probably benign Het
Daxx T A 17: 34,132,867 (GRCm39) V627D probably benign Het
Dnai7 C T 6: 145,121,948 (GRCm39) G624S probably damaging Het
Dpy19l3 A G 7: 35,392,192 (GRCm39) probably benign Het
Enc1 A G 13: 97,381,822 (GRCm39) I111V probably benign Het
Ep400 A G 5: 110,816,065 (GRCm39) probably benign Het
Fig4 T C 10: 41,161,413 (GRCm39) probably benign Het
Fkbp7 A T 2: 76,503,252 (GRCm39) L36* probably null Het
Fxn A T 19: 24,244,662 (GRCm39) probably benign Het
Gm10152 C T 7: 144,316,993 (GRCm39) P16L unknown Het
Hivep2 T C 10: 14,024,768 (GRCm39) V2194A possibly damaging Het
Hook3 T G 8: 26,538,326 (GRCm39) E525A probably damaging Het
Icam1 A G 9: 20,927,401 (GRCm39) probably null Het
Ifngr1 C T 10: 19,484,946 (GRCm39) T315I probably damaging Het
Igsf10 A G 3: 59,235,203 (GRCm39) probably null Het
Irag2 T C 6: 145,106,681 (GRCm39) S222P probably damaging Het
Krt87 A G 15: 101,336,266 (GRCm39) probably null Het
Lama1 T A 17: 68,050,321 (GRCm39) C311S probably damaging Het
Lig3 T A 11: 82,688,141 (GRCm39) M714K possibly damaging Het
Lypd5 C T 7: 24,052,910 (GRCm39) T189I probably benign Het
Mapk8ip3 C T 17: 25,120,692 (GRCm39) G807D probably benign Het
Met T C 6: 17,535,104 (GRCm39) probably null Het
Nlrp4g C A 9: 124,349,526 (GRCm38) noncoding transcript Het
Nlrp6 T A 7: 140,501,709 (GRCm39) V62D possibly damaging Het
Nme7 A G 1: 164,172,999 (GRCm39) probably null Het
Or2y1f T C 11: 49,184,457 (GRCm39) I103T possibly damaging Het
Or5m9 A G 2: 85,877,602 (GRCm39) R259G probably damaging Het
Or5p79 T C 7: 108,221,064 (GRCm39) F15S probably damaging Het
Pcnx1 G A 12: 82,038,795 (GRCm39) R2020Q possibly damaging Het
Pdzd2 T A 15: 12,402,718 (GRCm39) probably benign Het
Pi4ka A G 16: 17,166,637 (GRCm39) probably benign Het
Pkdrej T G 15: 85,700,360 (GRCm39) I1859L probably benign Het
Plcg1 A T 2: 160,596,318 (GRCm39) H638L probably damaging Het
Polr1b C T 2: 128,961,072 (GRCm39) S677L probably damaging Het
Ppef2 A G 5: 92,382,096 (GRCm39) L533P probably damaging Het
Sh3rf1 T A 8: 61,782,370 (GRCm39) W171R probably damaging Het
Son T C 16: 91,457,024 (GRCm39) probably benign Het
Sycp1 A G 3: 102,827,950 (GRCm39) S266P probably damaging Het
Tedc1 A G 12: 113,126,770 (GRCm39) E344G probably damaging Het
Tkfc T C 19: 10,571,892 (GRCm39) I381M probably benign Het
Tmprss6 T C 15: 78,326,634 (GRCm39) D1G probably null Het
Ttn T C 2: 76,582,770 (GRCm39) T22708A probably damaging Het
Ubtf T C 11: 102,199,710 (GRCm39) probably benign Het
Vps35l T A 7: 118,372,234 (GRCm39) probably null Het
Vwc2l T C 1: 70,768,070 (GRCm39) F45L probably damaging Het
Xpo7 T C 14: 70,939,195 (GRCm39) T154A probably benign Het
Yars2 C T 16: 16,124,406 (GRCm39) R338* probably null Het
Other mutations in Agrn
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00479:Agrn APN 4 156,255,029 (GRCm39) splice site probably benign
IGL00811:Agrn APN 4 156,253,231 (GRCm39) missense possibly damaging 0.70
IGL01412:Agrn APN 4 156,255,491 (GRCm39) splice site probably benign
IGL01414:Agrn APN 4 156,279,696 (GRCm39) splice site probably null
IGL02075:Agrn APN 4 156,254,667 (GRCm39) missense probably benign 0.40
IGL02609:Agrn APN 4 156,259,680 (GRCm39) splice site probably benign
IGL02669:Agrn APN 4 156,259,018 (GRCm39) splice site probably benign
IGL02671:Agrn APN 4 156,259,018 (GRCm39) splice site probably benign
IGL02672:Agrn APN 4 156,259,018 (GRCm39) splice site probably benign
IGL02674:Agrn APN 4 156,259,018 (GRCm39) splice site probably benign
IGL02724:Agrn APN 4 156,257,264 (GRCm39) nonsense probably null
IGL02804:Agrn APN 4 156,258,512 (GRCm39) missense probably benign 0.00
IGL02986:Agrn APN 4 156,263,311 (GRCm39) missense possibly damaging 0.84
IGL03160:Agrn APN 4 156,254,820 (GRCm39) missense probably damaging 0.98
BB004:Agrn UTSW 4 156,257,266 (GRCm39) missense probably damaging 0.99
BB014:Agrn UTSW 4 156,257,266 (GRCm39) missense probably damaging 0.99
F6893:Agrn UTSW 4 156,258,636 (GRCm39) missense probably benign
R0092:Agrn UTSW 4 156,263,410 (GRCm39) missense probably damaging 1.00
R0100:Agrn UTSW 4 156,259,415 (GRCm39) missense probably damaging 1.00
R0100:Agrn UTSW 4 156,259,415 (GRCm39) missense probably damaging 1.00
R0482:Agrn UTSW 4 156,258,012 (GRCm39) missense probably damaging 0.98
R0531:Agrn UTSW 4 156,263,891 (GRCm39) missense probably benign 0.38
R0536:Agrn UTSW 4 156,264,010 (GRCm39) missense probably benign 0.01
R0690:Agrn UTSW 4 156,258,910 (GRCm39) missense probably damaging 1.00
R0750:Agrn UTSW 4 156,251,394 (GRCm39) nonsense probably null
R1079:Agrn UTSW 4 156,261,682 (GRCm39) missense probably damaging 1.00
R1199:Agrn UTSW 4 156,256,756 (GRCm39) missense probably benign 0.00
R1222:Agrn UTSW 4 156,261,842 (GRCm39) missense probably damaging 0.99
R1534:Agrn UTSW 4 156,261,141 (GRCm39) missense probably damaging 1.00
R1587:Agrn UTSW 4 156,263,897 (GRCm39) missense probably damaging 0.99
R1625:Agrn UTSW 4 156,257,317 (GRCm39) missense probably damaging 1.00
R1698:Agrn UTSW 4 156,251,015 (GRCm39) missense probably benign 0.03
R1717:Agrn UTSW 4 156,250,976 (GRCm39) frame shift probably null
R1718:Agrn UTSW 4 156,250,976 (GRCm39) frame shift probably null
R1721:Agrn UTSW 4 156,259,630 (GRCm39) nonsense probably null
R1765:Agrn UTSW 4 156,261,284 (GRCm39) nonsense probably null
R1840:Agrn UTSW 4 156,251,872 (GRCm39) missense probably damaging 1.00
R1865:Agrn UTSW 4 156,250,976 (GRCm39) frame shift probably null
R2105:Agrn UTSW 4 156,261,756 (GRCm39) nonsense probably null
R2265:Agrn UTSW 4 156,263,675 (GRCm39) missense probably damaging 0.99
R2266:Agrn UTSW 4 156,263,675 (GRCm39) missense probably damaging 0.99
R2269:Agrn UTSW 4 156,263,675 (GRCm39) missense probably damaging 0.99
R2382:Agrn UTSW 4 156,260,973 (GRCm39) missense probably damaging 0.97
R2497:Agrn UTSW 4 156,258,268 (GRCm39) missense probably benign 0.28
R2509:Agrn UTSW 4 156,250,881 (GRCm39) splice site probably null
R2510:Agrn UTSW 4 156,250,881 (GRCm39) splice site probably null
R2511:Agrn UTSW 4 156,250,881 (GRCm39) splice site probably null
R2994:Agrn UTSW 4 156,251,785 (GRCm39) missense possibly damaging 0.79
R3824:Agrn UTSW 4 156,253,759 (GRCm39) missense probably damaging 1.00
R4736:Agrn UTSW 4 156,256,858 (GRCm39) missense probably benign 0.38
R4755:Agrn UTSW 4 156,257,979 (GRCm39) intron probably benign
R4853:Agrn UTSW 4 156,270,007 (GRCm39) critical splice donor site probably null
R4878:Agrn UTSW 4 156,255,302 (GRCm39) missense probably damaging 1.00
R5117:Agrn UTSW 4 156,270,010 (GRCm39) missense probably benign 0.30
R5228:Agrn UTSW 4 156,251,403 (GRCm39) missense probably damaging 1.00
R5236:Agrn UTSW 4 156,263,315 (GRCm39) missense possibly damaging 0.93
R5269:Agrn UTSW 4 156,253,447 (GRCm39) missense probably benign 0.10
R5282:Agrn UTSW 4 156,257,492 (GRCm39) missense probably damaging 1.00
R5449:Agrn UTSW 4 156,251,737 (GRCm39) critical splice donor site probably null
R5560:Agrn UTSW 4 156,262,954 (GRCm39) missense probably damaging 0.99
R5668:Agrn UTSW 4 156,251,770 (GRCm39) missense probably damaging 0.97
R5725:Agrn UTSW 4 156,258,332 (GRCm39) missense probably benign 0.25
R5967:Agrn UTSW 4 156,259,560 (GRCm39) missense probably damaging 1.00
R6226:Agrn UTSW 4 156,258,066 (GRCm39) missense probably damaging 0.96
R6338:Agrn UTSW 4 156,255,042 (GRCm39) missense probably benign 0.17
R6351:Agrn UTSW 4 156,263,891 (GRCm39) missense probably benign 0.00
R6437:Agrn UTSW 4 156,261,235 (GRCm39) missense probably damaging 0.96
R6490:Agrn UTSW 4 156,251,819 (GRCm39) nonsense probably null
R6909:Agrn UTSW 4 156,261,464 (GRCm39) missense possibly damaging 0.90
R7110:Agrn UTSW 4 156,263,332 (GRCm39) missense possibly damaging 0.88
R7123:Agrn UTSW 4 156,257,297 (GRCm39) missense probably benign
R7163:Agrn UTSW 4 156,262,966 (GRCm39) missense probably damaging 1.00
R7180:Agrn UTSW 4 156,256,296 (GRCm39) missense probably benign 0.00
R7251:Agrn UTSW 4 156,259,063 (GRCm39) missense probably damaging 1.00
R7289:Agrn UTSW 4 156,263,389 (GRCm39) missense probably damaging 1.00
R7335:Agrn UTSW 4 156,260,989 (GRCm39) missense probably damaging 1.00
R7336:Agrn UTSW 4 156,259,371 (GRCm39) nonsense probably null
R7406:Agrn UTSW 4 156,256,758 (GRCm39) missense possibly damaging 0.93
R7460:Agrn UTSW 4 156,258,881 (GRCm39) missense probably damaging 0.98
R7531:Agrn UTSW 4 156,254,261 (GRCm39) missense probably damaging 1.00
R7585:Agrn UTSW 4 156,255,131 (GRCm39) missense probably benign 0.08
R7646:Agrn UTSW 4 156,279,811 (GRCm39) missense probably damaging 0.99
R7652:Agrn UTSW 4 156,253,675 (GRCm39) critical splice donor site probably null
R7714:Agrn UTSW 4 156,279,854 (GRCm39) missense probably damaging 1.00
R7751:Agrn UTSW 4 156,260,886 (GRCm39) missense probably damaging 1.00
R7852:Agrn UTSW 4 156,253,514 (GRCm39) missense probably benign 0.01
R7927:Agrn UTSW 4 156,257,266 (GRCm39) missense probably damaging 0.99
R8039:Agrn UTSW 4 156,253,468 (GRCm39) missense probably benign 0.12
R8056:Agrn UTSW 4 156,254,868 (GRCm39) missense probably benign
R8061:Agrn UTSW 4 156,263,411 (GRCm39) missense probably damaging 1.00
R8158:Agrn UTSW 4 156,258,346 (GRCm39) missense probably benign
R8159:Agrn UTSW 4 156,256,825 (GRCm39) missense probably benign 0.27
R8325:Agrn UTSW 4 156,258,119 (GRCm39) missense probably benign 0.01
R8338:Agrn UTSW 4 156,253,018 (GRCm39) missense probably benign 0.01
R8739:Agrn UTSW 4 156,257,045 (GRCm39) missense probably benign
R8956:Agrn UTSW 4 156,250,995 (GRCm39) missense probably damaging 0.99
R9094:Agrn UTSW 4 156,253,264 (GRCm39) missense probably benign 0.01
R9112:Agrn UTSW 4 156,261,514 (GRCm39) missense probably damaging 1.00
R9384:Agrn UTSW 4 156,257,106 (GRCm39) missense probably damaging 1.00
R9472:Agrn UTSW 4 156,254,841 (GRCm39) missense
R9619:Agrn UTSW 4 156,258,490 (GRCm39) missense probably benign 0.00
R9629:Agrn UTSW 4 156,257,094 (GRCm39) nonsense probably null
R9732:Agrn UTSW 4 156,258,446 (GRCm39) missense probably benign 0.13
R9749:Agrn UTSW 4 156,258,114 (GRCm39) missense probably benign 0.02
R9757:Agrn UTSW 4 156,261,235 (GRCm39) missense probably benign 0.03
R9792:Agrn UTSW 4 156,261,129 (GRCm39) missense probably benign 0.09
R9793:Agrn UTSW 4 156,261,129 (GRCm39) missense probably benign 0.09
Z1177:Agrn UTSW 4 156,264,033 (GRCm39) missense possibly damaging 0.95
Z1177:Agrn UTSW 4 156,256,001 (GRCm39) nonsense probably null
Posted On 2013-06-21