Mutagenetix > Incidental Mutation

Incidental Mutation 'R7646:Agrn'

590525

Institutional Source

Beutler Lab

Gene Symbol

Agrn

Ensembl Gene

ENSMUSG00000041936

Gene Name

agrin

Synonyms

Agrin, NMF380, nmf380

MMRRC Submission

045724-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.458) question?

Stock #

R7646 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

156249747-156281945 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 156279811 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 120 (N120S)

Ref Sequence

ENSEMBL: ENSMUSP00000137931 (fasta)

Gene Model

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

AlphaFold

A2ASQ1

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 damaging
Transcript: ENSMUST00000180572
AA Change: N120S

PolyPhen 2 Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000137931
Gene: ENSMUSG00000041936
AA Change: N120S

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

Meta Mutation Damage Score

0.2005

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.9%

Validation Efficiency

100% (64/64)

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: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca16	A	G	7: 120,113,937 (GRCm39)	H936R	probably benign	Het
Afg3l1	C	A	8: 124,219,766 (GRCm39)	D431E	possibly damaging	Het
Apob	A	G	12: 8,059,189 (GRCm39)	D2557G	probably damaging	Het
Atl2	A	G	17: 80,162,036 (GRCm39)	Y359H	probably damaging	Het
Banp	T	C	8: 122,750,775 (GRCm39)	S489P	possibly damaging	Het
Cage1	A	G	13: 38,206,823 (GRCm39)	C341R	probably damaging	Het
Cdh23	T	C	10: 60,140,931 (GRCm39)	N3139S	possibly damaging	Het
Chd2	G	T	7: 73,085,521 (GRCm39)	S1704R	possibly damaging	Het
Col4a2	T	A	8: 11,495,086 (GRCm39)	F1515I	probably benign	Het
Crocc	T	A	4: 140,748,966 (GRCm39)	Q1613L	probably null	Het
Cttnbp2	A	T	6: 18,375,939 (GRCm39)	S1533R	probably damaging	Het
Dlgap5	C	T	14: 47,636,976 (GRCm39)		probably null	Het
Dnah8	G	A	17: 30,868,651 (GRCm39)	D362N	probably benign	Het
Elf5	G	T	2: 103,269,588 (GRCm39)	K56N	probably benign	Het
Emsy	G	A	7: 98,268,560 (GRCm39)	P508S	probably damaging	Het
Fam135a	T	C	1: 24,067,704 (GRCm39)	H1055R	probably benign	Het
Fh1	C	T	1: 175,442,479 (GRCm39)	V124I	probably benign	Het
Gbf1	T	A	19: 46,272,111 (GRCm39)	D1610E	probably damaging	Het
Glp1r	A	G	17: 31,155,257 (GRCm39)	K415E	probably benign	Het
Glyr1	T	C	16: 4,836,361 (GRCm39)	D496G	probably damaging	Het
Herc2	A	G	7: 55,784,361 (GRCm39)	I1342V	probably benign	Het
Hoxa7	A	G	6: 52,192,699 (GRCm39)	*230Q	probably null	Het
Ice1	A	G	13: 70,737,916 (GRCm39)	V2177A	possibly damaging	Het
Ildr1	T	A	16: 36,542,281 (GRCm39)	M271K	possibly damaging	Het
Klk1b22	T	G	7: 43,765,542 (GRCm39)		probably null	Het
Lig3	T	A	11: 82,674,304 (GRCm39)	N43K	probably benign	Het
Mcmdc2	A	G	1: 9,982,360 (GRCm39)	T83A	possibly damaging	Het
Megf10	GGCAGCAACAGCACCAGCAGCAACAGCACCAGCAGCA	GGCAGCAACAGCACCAGCAGCA	18: 57,427,071 (GRCm39)		probably benign	Het
Mki67	A	T	7: 135,298,498 (GRCm39)	S2179T	possibly damaging	Het
Mrpl38	G	A	11: 116,023,593 (GRCm39)	S282L	probably damaging	Het
Ndst2	A	G	14: 20,774,527 (GRCm39)		probably null	Het
Nlrp4a	C	G	7: 26,148,987 (GRCm39)	A198G	probably damaging	Het
Nup98	A	C	7: 101,803,242 (GRCm39)	S653A	probably benign	Het
Or12e8	A	G	2: 87,188,102 (GRCm39)	I105V	probably benign	Het
Or13a27	A	G	7: 139,925,864 (GRCm39)	F13L	probably damaging	Het
Or14j10	G	T	17: 37,935,295 (GRCm39)	T77K	probably damaging	Het
Or51ai2	G	A	7: 103,587,504 (GRCm39)	A306T	probably damaging	Het
Or8k37	C	A	2: 86,469,513 (GRCm39)	D180Y	probably damaging	Het
Pclo	A	T	5: 14,570,909 (GRCm39)	D98V	probably damaging	Het
Peg3	A	T	7: 6,712,221 (GRCm39)	D1000E	probably benign	Het
Polr3h	A	G	15: 81,801,571 (GRCm39)	Y131H	probably damaging	Het
Rapgef6	A	G	11: 54,516,780 (GRCm39)	I346V	probably benign	Het
Rufy1	T	A	11: 50,301,436 (GRCm39)	K332M	probably damaging	Het
Scn1a	T	C	2: 66,118,102 (GRCm39)	M404V	possibly damaging	Het
Septin8	T	A	11: 53,428,744 (GRCm39)		probably null	Het
Sesn3	A	G	9: 14,219,911 (GRCm39)	D100G	probably damaging	Het
Setx	A	G	2: 29,067,561 (GRCm39)	I2388V	possibly damaging	Het
Skint5	T	A	4: 113,620,739 (GRCm39)		probably null	Het
Slc25a23	C	T	17: 57,366,759 (GRCm39)		probably benign	Het
Slc4a7	G	A	14: 14,773,348 (GRCm38)	E773K	probably benign	Het
Slco3a1	G	A	7: 74,154,344 (GRCm39)	A76V	probably damaging	Het
Stradb	A	T	1: 59,033,567 (GRCm39)	D410V	probably benign	Het
Syne1	T	C	10: 5,122,949 (GRCm39)	D329G	probably damaging	Het
Syt4	A	C	18: 31,574,658 (GRCm39)	S320A	possibly damaging	Het
Tnfsf4	A	G	1: 161,244,733 (GRCm39)	T141A	possibly damaging	Het
Trim34b	G	A	7: 103,984,559 (GRCm39)	A279T	probably damaging	Het
Trpm6	A	T	19: 18,845,325 (GRCm39)	D1675V	probably benign	Het
Vmn2r24	T	A	6: 123,793,169 (GRCm39)	M832K	probably benign	Het
Wdr90	A	G	17: 26,079,104 (GRCm39)	V246A	probably benign	Het
Xkr6	G	T	14: 63,844,423 (GRCm39)	D149Y	probably damaging	Het
Zfp108	A	G	7: 23,960,840 (GRCm39)	Y477C	probably damaging	Het
Zfp37	T	G	4: 62,109,532 (GRCm39)	I552L	probably damaging	Het
Zfp426	A	T	9: 20,381,320 (GRCm39)	S556T	probably damaging	Het
Zfp954	G	A	7: 7,118,720 (GRCm39)	L275F	possibly damaging	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
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
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

Predicted Primers

PCR Primer
(F):5'- ATAACGCATCACAGGTAGGC -3'
(R):5'- TACTTCCATGTCCGCTCAGG -3'

Sequencing Primer
(F):5'- ACGGCAAGCTCTCCTCTG -3'
(R):5'- ATGTCCGCTCAGGTTCGAG -3'

Posted On

2019-10-24