Mutagenetix > Incidental Mutation

Incidental Mutation 'R9757:Agrn'

732788

Institutional Source

Beutler Lab

Gene Symbol

Agrn

Ensembl Gene

ENSMUSG00000041936

Gene Name

agrin

Synonyms

NMF380, Agrin, nmf380

MMRRC Submission

Accession Numbers

Genbank: NM_021604; MGI: 87961

Essential gene?

Possibly non essential (E-score: 0.425) question?

Stock #

R9757 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

156165290-156197488 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 156176778 bp (GRCm38)

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

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: V514L

PolyPhen 2 Score 0.103 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000101199
Gene: ENSMUSG00000041936
AA Change: V514L

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: V514L

PolyPhen 2 Score 0.103 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000101200
Gene: ENSMUSG00000041936
AA Change: V514L

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

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

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

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
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrl3	T	C	5: 81,465,239	V105A	probably benign	Het
Anapc1	A	G	2: 128,675,756	S323P	probably damaging	Het
Anxa6	T	A	11: 54,994,356	K456*	probably null	Het
C7	G	T	15: 5,045,652	T186K	probably damaging	Het
Cacna1b	T	C	2: 24,719,101	E396G	probably damaging	Het
Ccdc191	C	T	16: 43,941,807	T20I		Het
Ces1b	G	T	8: 93,079,873	P15Q	probably benign	Het
Dnah14	G	T	1: 181,685,784	A1901S	probably benign	Het
Dock3	T	C	9: 107,023,836	H310R	possibly damaging	Het
Eif2ak4	T	G	2: 118,438,917	S23R	probably benign	Het
Gli2	A	G	1: 118,845,922	C485R	probably damaging	Het
Gm13078	A	G	4: 143,728,422	D430G	probably benign	Het
Gm17093	T	A	14: 44,521,533	W171R		Het
Ing2	G	A	8: 47,675,040		probably benign	Het
Itpkb	T	C	1: 180,332,807	I166T	probably benign	Het
Kcnj8	T	A	6: 142,570,079	I101F	probably benign	Het
Krtap6-2	C	T	16: 89,420,070	C3Y	unknown	Het
Lep	A	G	6: 29,069,084	I45V	probably benign	Het
Lrrk2	A	T	15: 91,811,026	I2355L	probably benign	Het
Mettl3	C	A	14: 52,299,904	A174S	probably benign	Het
Mmp23	T	C	4: 155,651,058	N317S	probably damaging	Het
Mybpc1	A	T	10: 88,536,395	V777E	probably damaging	Het
Nlrp9b	T	A	7: 20,048,692	C844S	probably damaging	Het
Obscn	T	C	11: 59,001,512	E6823G	probably benign	Het
Olfr220	A	T	1: 174,449,300	I226F	probably damaging	Het
Pcdhb1	A	T	18: 37,267,249	Q751L	probably benign	Het
Pdgfrl	T	A	8: 40,926,417	L16Q	possibly damaging	Het
Pdzph1	A	C	17: 58,974,903	L128*	probably null	Het
Prr36	A	T	8: 4,210,998	S940T	probably damaging	Het
Rad54l2	A	T	9: 106,717,921	I279N	probably damaging	Het
Rasgrp3	A	T	17: 75,500,724	T259S	probably damaging	Het
Rrn3	T	A	16: 13,810,569	I538N	probably damaging	Het
Sdf2l1	A	T	16: 17,130,534	D213E	probably benign	Het
Sorcs3	T	C	19: 48,722,924	Y643H	probably damaging	Het
Sval2	G	T	6: 41,861,840	C4F	possibly damaging	Het
Taldo1	A	G	7: 141,400,350	E131G	probably benign	Het
Tas2r130	T	C	6: 131,630,333	I166M	probably benign	Het
Tmem178	A	G	17: 81,000,860	Y228C	probably damaging	Het
Ttn	A	T	2: 76,782,079	L17188*	probably null	Het
Unc45b	A	G	11: 82,919,732	K273E	probably damaging	Het
Usp32	A	C	11: 85,077,329	Y169*	probably null	Het
Vmn2r9	A	T	5: 108,848,042	Y247N	possibly damaging	Het
Zkscan2	A	T	7: 123,480,087	C882*	probably null	Het

Other mutations in Agrn

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00479:Agrn	APN	4	156170572	splice site	probably benign
IGL00811:Agrn	APN	4	156168774	missense	possibly damaging	0.70
IGL01066:Agrn	APN	4	156177343	missense	probably benign	0.00
IGL01412:Agrn	APN	4	156171034	splice site	probably benign
IGL01414:Agrn	APN	4	156195239	splice site	probably null
IGL02075:Agrn	APN	4	156170210	missense	probably benign	0.40
IGL02609:Agrn	APN	4	156175223	splice site	probably benign
IGL02669:Agrn	APN	4	156174561	splice site	probably benign
IGL02671:Agrn	APN	4	156174561	splice site	probably benign
IGL02672:Agrn	APN	4	156174561	splice site	probably benign
IGL02674:Agrn	APN	4	156174561	splice site	probably benign
IGL02724:Agrn	APN	4	156172807	nonsense	probably null
IGL02804:Agrn	APN	4	156174055	missense	probably benign	0.00
IGL02986:Agrn	APN	4	156178854	missense	possibly damaging	0.84
IGL03160:Agrn	APN	4	156170363	missense	probably damaging	0.98
BB004:Agrn	UTSW	4	156172809	missense	probably damaging	0.99
BB014:Agrn	UTSW	4	156172809	missense	probably damaging	0.99
F6893:Agrn	UTSW	4	156174179	missense	probably benign
R0092:Agrn	UTSW	4	156178953	missense	probably damaging	1.00
R0100:Agrn	UTSW	4	156174958	missense	probably damaging	1.00
R0100:Agrn	UTSW	4	156174958	missense	probably damaging	1.00
R0482:Agrn	UTSW	4	156173555	missense	probably damaging	0.98
R0531:Agrn	UTSW	4	156179434	missense	probably benign	0.38
R0536:Agrn	UTSW	4	156179553	missense	probably benign	0.01
R0690:Agrn	UTSW	4	156174453	missense	probably damaging	1.00
R0750:Agrn	UTSW	4	156166937	nonsense	probably null
R1079:Agrn	UTSW	4	156177225	missense	probably damaging	1.00
R1199:Agrn	UTSW	4	156172299	missense	probably benign	0.00
R1222:Agrn	UTSW	4	156177385	missense	probably damaging	0.99
R1534:Agrn	UTSW	4	156176684	missense	probably damaging	1.00
R1587:Agrn	UTSW	4	156179440	missense	probably damaging	0.99
R1625:Agrn	UTSW	4	156172860	missense	probably damaging	1.00
R1698:Agrn	UTSW	4	156166558	missense	probably benign	0.03
R1717:Agrn	UTSW	4	156166519	frame shift	probably null
R1718:Agrn	UTSW	4	156166519	frame shift	probably null
R1721:Agrn	UTSW	4	156175173	nonsense	probably null
R1765:Agrn	UTSW	4	156176827	nonsense	probably null
R1840:Agrn	UTSW	4	156167415	missense	probably damaging	1.00
R1865:Agrn	UTSW	4	156166519	frame shift	probably null
R2105:Agrn	UTSW	4	156177299	nonsense	probably null
R2265:Agrn	UTSW	4	156179218	missense	probably damaging	0.99
R2266:Agrn	UTSW	4	156179218	missense	probably damaging	0.99
R2269:Agrn	UTSW	4	156179218	missense	probably damaging	0.99
R2382:Agrn	UTSW	4	156176516	missense	probably damaging	0.97
R2497:Agrn	UTSW	4	156173811	missense	probably benign	0.28
R2509:Agrn	UTSW	4	156166424	splice site	probably null
R2510:Agrn	UTSW	4	156166424	splice site	probably null
R2511:Agrn	UTSW	4	156166424	splice site	probably null
R2994:Agrn	UTSW	4	156167328	missense	possibly damaging	0.79
R3824:Agrn	UTSW	4	156169302	missense	probably damaging	1.00
R4736:Agrn	UTSW	4	156172401	missense	probably benign	0.38
R4755:Agrn	UTSW	4	156173522	intron	probably benign
R4853:Agrn	UTSW	4	156185550	critical splice donor site	probably null
R4878:Agrn	UTSW	4	156170845	missense	probably damaging	1.00
R5117:Agrn	UTSW	4	156185553	missense	probably benign	0.30
R5228:Agrn	UTSW	4	156166946	missense	probably damaging	1.00
R5236:Agrn	UTSW	4	156178858	missense	possibly damaging	0.93
R5269:Agrn	UTSW	4	156168990	missense	probably benign	0.10
R5282:Agrn	UTSW	4	156173035	missense	probably damaging	1.00
R5449:Agrn	UTSW	4	156167280	critical splice donor site	probably null
R5560:Agrn	UTSW	4	156178497	missense	probably damaging	0.99
R5668:Agrn	UTSW	4	156167313	missense	probably damaging	0.97
R5725:Agrn	UTSW	4	156173875	missense	probably benign	0.25
R5967:Agrn	UTSW	4	156175103	missense	probably damaging	1.00
R6226:Agrn	UTSW	4	156173609	missense	probably damaging	0.96
R6338:Agrn	UTSW	4	156170585	missense	probably benign	0.17
R6351:Agrn	UTSW	4	156179434	missense	probably benign	0.00
R6437:Agrn	UTSW	4	156176778	missense	probably damaging	0.96
R6490:Agrn	UTSW	4	156167362	nonsense	probably null
R6909:Agrn	UTSW	4	156177007	missense	possibly damaging	0.90
R7110:Agrn	UTSW	4	156178875	missense	possibly damaging	0.88
R7123:Agrn	UTSW	4	156172840	missense	probably benign
R7163:Agrn	UTSW	4	156178509	missense	probably damaging	1.00
R7180:Agrn	UTSW	4	156171839	missense	probably benign	0.00
R7251:Agrn	UTSW	4	156174606	missense	probably damaging	1.00
R7289:Agrn	UTSW	4	156178932	missense	probably damaging	1.00
R7335:Agrn	UTSW	4	156176532	missense	probably damaging	1.00
R7336:Agrn	UTSW	4	156174914	nonsense	probably null
R7406:Agrn	UTSW	4	156172301	missense	possibly damaging	0.93
R7460:Agrn	UTSW	4	156174424	missense	probably damaging	0.98
R7531:Agrn	UTSW	4	156169804	missense	probably damaging	1.00
R7585:Agrn	UTSW	4	156170674	missense	probably benign	0.08
R7646:Agrn	UTSW	4	156195354	missense	probably damaging	0.99
R7652:Agrn	UTSW	4	156169218	critical splice donor site	probably null
R7714:Agrn	UTSW	4	156195397	missense	probably damaging	1.00
R7751:Agrn	UTSW	4	156176429	missense	probably damaging	1.00
R7852:Agrn	UTSW	4	156169057	missense	probably benign	0.01
R7927:Agrn	UTSW	4	156172809	missense	probably damaging	0.99
R8039:Agrn	UTSW	4	156169011	missense	probably benign	0.12
R8056:Agrn	UTSW	4	156170411	missense	probably benign
R8061:Agrn	UTSW	4	156178954	missense	probably damaging	1.00
R8158:Agrn	UTSW	4	156173889	missense	probably benign
R8159:Agrn	UTSW	4	156172368	missense	probably benign	0.27
R8325:Agrn	UTSW	4	156173662	missense	probably benign	0.01
R8338:Agrn	UTSW	4	156168561	missense	probably benign	0.01
R8739:Agrn	UTSW	4	156172588	missense	probably benign
R8956:Agrn	UTSW	4	156166538	missense	probably damaging	0.99
R9094:Agrn	UTSW	4	156168807	missense	probably benign	0.01
R9112:Agrn	UTSW	4	156177057	missense	probably damaging	1.00
R9384:Agrn	UTSW	4	156172649	missense	probably damaging	1.00
R9472:Agrn	UTSW	4	156170384	missense
R9619:Agrn	UTSW	4	156174033	missense	probably benign	0.00
R9629:Agrn	UTSW	4	156172637	nonsense	probably null
R9732:Agrn	UTSW	4	156173989	missense	probably benign	0.13
R9749:Agrn	UTSW	4	156173657	missense	probably benign	0.02
R9792:Agrn	UTSW	4	156176672	missense	probably benign	0.09
R9793:Agrn	UTSW	4	156176672	missense	probably benign	0.09
Z1177:Agrn	UTSW	4	156171544	nonsense	probably null
Z1177:Agrn	UTSW	4	156179576	missense	possibly damaging	0.95

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