Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01414:Agrn'

80187

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 #

IGL01414

Quality Score

Status

Chromosome

Chromosomal Location

156249747-156281945 bp(-) (GRCm39)

Type of Mutation

splice site (5 bp from exon)

DNA Base Change (assembly)

C to T at 156279696 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000137931 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000085425] [ENSMUST00000180572]

AlphaFold

A2ASQ1

Predicted Effect

SMART Domains

Protein: ENSMUSP00000075191
Gene: ENSMUSG00000041936

Domain	Start	End	E-Value	Type
FOLN	5	30	8.25e-6	SMART
KAZAL	30	76	1.22e-17	SMART
FOLN	81	105	7.58e-5	SMART
EGF_like	81	120	7.38e1	SMART
KAZAL	105	151	1.51e-13	SMART
KAZAL	180	223	1.8e-6	SMART
KAZAL	249	295	1.55e-10	SMART
FOLN	301	323	8.25e-6	SMART
KAZAL	323	368	1.14e-17	SMART
KAZAL	388	433	6.43e-17	SMART
FOLN	435	458	2.94e-2	SMART
KAZAL	446	498	8.96e-16	SMART
low complexity region	504	511	N/A	INTRINSIC
KAZAL	538	584	1.12e-16	SMART
EGF_Lam	627	678	3.29e-15	SMART
EGF_Lam	681	725	6.7e-7	SMART
FOLN	734	756	1.94e-2	SMART
KAZAL	756	803	3.9e-16	SMART
low complexity region	828	845	N/A	INTRINSIC
low complexity region	888	917	N/A	INTRINSIC
SEA	953	1075	2.26e-35	SMART
low complexity region	1081	1108	N/A	INTRINSIC
low complexity region	1122	1137	N/A	INTRINSIC
EGF	1153	1188	1.49e-4	SMART
LamG	1213	1349	4e-45	SMART
EGF	1373	1407	2.23e-3	SMART
EGF	1412	1446	7.13e-2	SMART
LamG	1481	1617	6.51e-36	SMART
EGF	1638	1674	4.35e-6	SMART
LamG	1710	1846	5.01e-37	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000085425

SMART Domains

Protein: ENSMUSP00000082548
Gene: ENSMUSG00000035692

Domain	Start	End	E-Value	Type
UBQ	3	74	8.2e-24	SMART
UBQ	80	151	2.93e-11	SMART

Predicted Effect

probably null
Transcript: ENSMUST00000180572

SMART Domains

Protein: ENSMUSP00000137931
Gene: ENSMUSG00000041936

Domain	Start	End	E-Value	Type
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

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: 26 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Arhgap45	T	A	10: 79,862,938 (GRCm39)	S705T	probably damaging	Het
B4galt4	A	G	16: 38,578,153 (GRCm39)	E200G	probably damaging	Het
Cdh12	A	T	15: 21,492,775 (GRCm39)	N265Y	probably damaging	Het
Cerk	T	A	15: 86,043,343 (GRCm39)	T153S	probably benign	Het
Ect2	A	T	3: 27,181,878 (GRCm39)		probably benign	Het
Ep300	T	A	15: 81,511,467 (GRCm39)		probably benign	Het
Gm26920	T	G	7: 29,767,503 (GRCm39)		probably benign	Het
Ighv1-66	T	C	12: 115,556,929 (GRCm39)	Y51C	probably benign	Het
Ints1	T	C	5: 139,744,253 (GRCm39)	D1503G	probably benign	Het
Lhpp	A	G	7: 132,244,249 (GRCm39)	K189E	probably damaging	Het
Myh13	A	G	11: 67,233,298 (GRCm39)	T606A	probably benign	Het
Naip1	T	C	13: 100,545,681 (GRCm39)		probably null	Het
Nckap5	G	T	1: 126,456,450 (GRCm39)	Q38K	probably damaging	Het
Nlgn3	A	G	X: 100,345,866 (GRCm39)	I93V	probably benign	Het
Nxpe2	A	G	9: 48,231,923 (GRCm39)	F345L	probably benign	Het
Pcdhb22	A	G	18: 37,652,549 (GRCm39)	N339S	probably damaging	Het
Rbbp7	T	A	X: 161,557,577 (GRCm39)	I322N	probably damaging	Het
Rigi	C	A	4: 40,222,176 (GRCm39)	V368F	probably damaging	Het
Rprd2	A	T	3: 95,672,837 (GRCm39)	F855L	probably damaging	Het
Scin	A	T	12: 40,174,698 (GRCm39)	H128Q	probably damaging	Het
Sema4g	A	G	19: 44,986,435 (GRCm39)	Y337C	probably damaging	Het
Stx6	C	T	1: 155,077,691 (GRCm39)	R233C	possibly damaging	Het
Supt16	C	T	14: 52,414,489 (GRCm39)	E438K	probably benign	Het
Trem3	G	T	17: 48,556,843 (GRCm39)	V105L	probably benign	Het
Vmn2r108	T	A	17: 20,691,942 (GRCm39)	M194L	probably benign	Het
Zfyve16	A	T	13: 92,658,704 (GRCm39)	D402E	probably benign	Het

Other mutations in Agrn

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH 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
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

2013-11-05