Incidental Mutation 'IGL00811:Agrn'
ID 8654
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: 0.458) question?
Stock # IGL00811
Quality Score
Status
Chromosome 4
Chromosomal Location 156249747-156281945 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 156253231 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glutamic Acid at position 1752 (D1752E)
Ref Sequence ENSEMBL: ENSMUSP00000101199 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000071248] [ENSMUST00000105574] [ENSMUST00000105575] [ENSMUST00000180572]
AlphaFold A2ASQ1
Predicted Effect probably benign
Transcript: ENSMUST00000071248
SMART Domains Protein: ENSMUSP00000071229
Gene: ENSMUSG00000041936

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 possibly damaging
Transcript: ENSMUST00000105574
AA Change: D1752E

PolyPhen 2 Score 0.701 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000101199
Gene: ENSMUSG00000041936
AA Change: D1752E

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: D1756E

PolyPhen 2 Score 0.103 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000101200
Gene: ENSMUSG00000041936
AA Change: D1756E

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 noncoding transcript
Transcript: ENSMUST00000154494
Predicted Effect probably benign
Transcript: ENSMUST00000180572
AA Change: D1859E

PolyPhen 2 Score 0.043 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000137931
Gene: ENSMUSG00000041936
AA Change: D1859E

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: 24 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Agps T C 2: 75,756,316 (GRCm39) F649L probably benign Het
Det1 A G 7: 78,489,807 (GRCm39) V406A probably benign Het
Dhx57 A G 17: 80,560,672 (GRCm39) V955A probably damaging Het
Dpep1 T C 8: 123,926,354 (GRCm39) probably benign Het
Epha7 T A 4: 28,961,285 (GRCm39) probably benign Het
Faim G A 9: 98,874,218 (GRCm39) G15R probably damaging Het
Fbxl5 A G 5: 43,915,567 (GRCm39) L614P probably damaging Het
Fem1b A T 9: 62,704,201 (GRCm39) V353D probably damaging Het
Fgf22 C T 10: 79,592,724 (GRCm39) P140S probably damaging Het
Ifi47 T C 11: 48,986,244 (GRCm39) F4L probably benign Het
Kmt2c A C 5: 25,579,531 (GRCm39) S588R possibly damaging Het
Nmrk1 T A 19: 18,622,511 (GRCm39) probably benign Het
Nomo1 C T 7: 45,732,732 (GRCm39) A1165V possibly damaging Het
Osmr G A 15: 6,845,147 (GRCm39) T873I probably benign Het
Pclo A G 5: 14,730,024 (GRCm39) probably benign Het
Rims2 T A 15: 39,155,544 (GRCm39) M115K probably damaging Het
Rora C A 9: 69,278,572 (GRCm39) T299K probably benign Het
Sema6d C A 2: 124,500,389 (GRCm39) P386Q probably damaging Het
Slit2 G A 5: 48,146,493 (GRCm39) E95K possibly damaging Het
Sox18 T C 2: 181,312,213 (GRCm39) E306G probably benign Het
Sptlc1 C A 13: 53,521,414 (GRCm39) A121S probably damaging Het
Ssh2 C T 11: 77,332,752 (GRCm39) A411V probably damaging Het
Trim13 A G 14: 61,842,306 (GRCm39) probably null Het
Vps13c T A 9: 67,855,463 (GRCm39) N2509K probably damaging Het
Other mutations in Agrn
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00479:Agrn APN 4 156,255,029 (GRCm39) splice site probably benign
IGL01066:Agrn APN 4 156,261,800 (GRCm39) missense probably benign 0.00
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 2012-12-06