Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02804:Agrn'

360348

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 #

IGL02804

Quality Score

Status

Chromosome

Chromosomal Location

156249747-156281945 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 156258512 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 985 (S985P)

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: S878P

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000071229
Gene: ENSMUSG00000041936
AA Change: S878P

Domain	Start	End	E-Value	Type
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: S878P

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000101199
Gene: ENSMUSG00000041936
AA Change: S878P

Domain	Start	End	E-Value	Type
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: S878P

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000101200
Gene: ENSMUSG00000041936
AA Change: S878P

Domain	Start	End	E-Value	Type
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: S985P

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000137931
Gene: ENSMUSG00000041936
AA Change: S985P

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

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: 30 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aadacl4fm4	A	T	4: 144,397,009 (GRCm39)	I241N	possibly damaging	Het
Aftph	T	C	11: 20,676,107 (GRCm39)	T501A	possibly damaging	Het
Atxn7l1	T	A	12: 33,417,788 (GRCm39)	S650T	probably damaging	Het
Camk2d	G	A	3: 126,591,387 (GRCm39)	E286K	possibly damaging	Het
Card10	A	G	15: 78,686,649 (GRCm39)	V56A	probably damaging	Het
Fcgbpl1	G	T	7: 27,852,795 (GRCm39)	V1361L	probably benign	Het
H2-Q10	G	A	17: 35,784,147 (GRCm39)	G263R	probably damaging	Het
Herc4	A	C	10: 63,121,454 (GRCm39)	K365Q	probably benign	Het
Klhl33	T	C	14: 51,130,411 (GRCm39)	H101R	probably damaging	Het
Lef1	A	G	3: 130,988,338 (GRCm39)	N236D	probably damaging	Het
Lipg	T	A	18: 75,082,159 (GRCm39)	N255Y	probably damaging	Het
Lrp5	T	C	19: 3,650,777 (GRCm39)	D1219G	possibly damaging	Het
Myh7b	T	C	2: 155,467,643 (GRCm39)	L756P	probably damaging	Het
Nnt	A	G	13: 119,518,210 (GRCm39)		probably null	Het
Or6c88	T	C	10: 129,407,306 (GRCm39)	S261P	possibly damaging	Het
Pcsk9	A	G	4: 106,314,161 (GRCm39)	Y145H	probably damaging	Het
Prkag1	G	A	15: 98,713,385 (GRCm39)	S69L	probably damaging	Het
Prkd2	C	A	7: 16,589,815 (GRCm39)	R506S	probably benign	Het
Ralgapb	T	A	2: 158,268,204 (GRCm39)	D102E	possibly damaging	Het
Rbm44	A	G	1: 91,077,898 (GRCm39)		probably benign	Het
Snap23	T	C	2: 120,416,637 (GRCm39)		probably benign	Het
Sntg1	T	A	1: 8,874,182 (GRCm39)		probably benign	Het
Speer4a2	T	A	5: 26,291,429 (GRCm39)	K126*	probably null	Het
Strbp	T	C	2: 37,514,498 (GRCm39)		probably benign	Het
Tmem217	G	A	17: 29,745,455 (GRCm39)	L92F	probably damaging	Het
Troap	G	A	15: 98,975,552 (GRCm39)		probably null	Het
Vmn1r16	T	C	6: 57,300,467 (GRCm39)	M52V	probably benign	Het
Wwox	G	A	8: 115,438,753 (GRCm39)	G273E	probably damaging	Het
Zbp1	T	A	2: 173,050,939 (GRCm39)	K310N	probably damaging	Het
Zfp423	T	A	8: 88,509,285 (GRCm39)	H332L	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
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
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

2015-12-18