Incidental Mutation 'R9757:Agrn'
ID 732788
Institutional Source Beutler Lab
Gene Symbol Agrn
Ensembl Gene ENSMUSG00000041936
Gene Name agrin
Synonyms Agrin, NMF380, nmf380
MMRRC Submission
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.458) question?
Stock # R9757 (G1)
Quality Score 225.009
Status Not validated
Chromosome 4
Chromosomal Location 156249747-156281945 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 156261235 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Leucine at position 621 (V621L)
Ref Sequence ENSEMBL: ENSMUSP00000137931 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000071248] [ENSMUST00000105574] [ENSMUST00000105575] [ENSMUST00000180572]
AlphaFold A2ASQ1
Predicted Effect possibly damaging
Transcript: ENSMUST00000071248
AA Change: V514L

PolyPhen 2 Score 0.773 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000071229
Gene: ENSMUSG00000041936
AA Change: V514L

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: V514L

PolyPhen 2 Score 0.103 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000101199
Gene: ENSMUSG00000041936
AA Change: V514L

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: V514L

PolyPhen 2 Score 0.103 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000101200
Gene: ENSMUSG00000041936
AA Change: V514L

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 probably benign
Transcript: ENSMUST00000180572
AA Change: V621L

PolyPhen 2 Score 0.025 (Sensitivity: 0.95; Specificity: 0.81)
SMART Domains Protein: ENSMUSP00000137931
Gene: ENSMUSG00000041936
AA Change: V621L

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
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 99.3%
  • 20x: 98.6%
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: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrl3 T C 5: 81,613,086 (GRCm39) V105A probably benign Het
Anapc1 A G 2: 128,517,676 (GRCm39) S323P probably damaging Het
Anxa6 T A 11: 54,885,182 (GRCm39) K456* probably null Het
C7 G T 15: 5,075,134 (GRCm39) T186K probably damaging Het
Cacna1b T C 2: 24,609,113 (GRCm39) E396G probably damaging Het
Ccdc191 C T 16: 43,762,170 (GRCm39) T20I Het
Ces1b G T 8: 93,806,501 (GRCm39) P15Q probably benign Het
Dnah14 G T 1: 181,513,349 (GRCm39) A1901S probably benign Het
Dock3 T C 9: 106,901,035 (GRCm39) H310R possibly damaging Het
Eif2ak4 T G 2: 118,269,398 (GRCm39) S23R probably benign Het
Gli2 A G 1: 118,773,652 (GRCm39) C485R probably damaging Het
Gm17093 T A 14: 44,758,990 (GRCm39) W171R Het
Ing2 G A 8: 48,128,075 (GRCm39) probably benign Het
Itpkb T C 1: 180,160,372 (GRCm39) I166T probably benign Het
Kcnj8 T A 6: 142,515,805 (GRCm39) I101F probably benign Het
Krtap6-2 C T 16: 89,216,958 (GRCm39) C3Y unknown Het
Lep A G 6: 29,069,083 (GRCm39) I45V probably benign Het
Lrrk2 A T 15: 91,695,229 (GRCm39) I2355L probably benign Het
Mettl3 C A 14: 52,537,361 (GRCm39) A174S probably benign Het
Mmp23 T C 4: 155,735,515 (GRCm39) N317S probably damaging Het
Mybpc1 A T 10: 88,372,257 (GRCm39) V777E probably damaging Het
Nlrp9b T A 7: 19,782,617 (GRCm39) C844S probably damaging Het
Obscn T C 11: 58,892,338 (GRCm39) E6823G probably benign Het
Or6y1 A T 1: 174,276,866 (GRCm39) I226F probably damaging Het
Pcdhb1 A T 18: 37,400,302 (GRCm39) Q751L probably benign Het
Pdgfrl T A 8: 41,379,454 (GRCm39) L16Q possibly damaging Het
Pdzph1 A C 17: 59,281,898 (GRCm39) L128* probably null Het
Pramel24 A G 4: 143,454,992 (GRCm39) D430G probably benign Het
Prr36 A T 8: 4,260,998 (GRCm39) S940T probably damaging Het
Rad54l2 A T 9: 106,595,120 (GRCm39) I279N probably damaging Het
Rasgrp3 A T 17: 75,807,719 (GRCm39) T259S probably damaging Het
Rrn3 T A 16: 13,628,433 (GRCm39) I538N probably damaging Het
Sdf2l1 A T 16: 16,948,398 (GRCm39) D213E probably benign Het
Sorcs3 T C 19: 48,711,363 (GRCm39) Y643H probably damaging Het
Sval2 G T 6: 41,838,774 (GRCm39) C4F possibly damaging Het
Taldo1 A G 7: 140,980,263 (GRCm39) E131G probably benign Het
Tas2r130 T C 6: 131,607,296 (GRCm39) I166M probably benign Het
Tmem178 A G 17: 81,308,289 (GRCm39) Y228C probably damaging Het
Ttn A T 2: 76,612,423 (GRCm39) L17188* probably null Het
Unc45b A G 11: 82,810,558 (GRCm39) K273E probably damaging Het
Usp32 A C 11: 84,968,155 (GRCm39) Y169* probably null Het
Vmn2r9 A T 5: 108,995,908 (GRCm39) Y247N possibly damaging Het
Zkscan2 A T 7: 123,079,310 (GRCm39) C882* 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
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
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
Predicted Primers PCR Primer
(F):5'- AGACTGGAATCTAGGGGTGC -3'
(R):5'- CAGATCAGCCTATACGTGGC -3'

Sequencing Primer
(F):5'- GTGCGCACCGGTTACCC -3'
(R):5'- ATCAGCCTATACGTGGCCTCAG -3'
Posted On 2022-11-14