Mutagenetix > Incidental Mutation

Incidental Mutation 'R7714:Agrn'

594775

Institutional Source

Beutler Lab

Gene Symbol

Agrn

Ensembl Gene

ENSMUSG00000041936

Gene Name

agrin

Synonyms

Agrin, NMF380, nmf380

MMRRC Submission

045772-MU

Accession Numbers

Essential gene?

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

Stock #

R7714 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

156249747-156281945 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 156279854 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Tyrosine at position 106 (D106Y)

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: D106Y

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000137931
Gene: ENSMUSG00000041936
AA Change: D106Y

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

0.6853

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

Validation Efficiency

97% (63/65)

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: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam22	A	G	5: 8,167,587 (GRCm39)		probably null	Het
Arfgap3	A	T	15: 83,192,352 (GRCm39)	Y416N	probably benign	Het
Atp6v0a2	C	T	5: 124,775,533 (GRCm39)	T135M	probably damaging	Het
Bach1	C	A	16: 87,515,736 (GRCm39)	Y92*	probably null	Het
Catsperg1	A	C	7: 28,884,907 (GRCm39)	C905G	probably null	Het
Cbr2	T	C	11: 120,620,628 (GRCm39)	I219V	probably benign	Het
Ccdc3	A	T	2: 5,233,908 (GRCm39)	K244I	probably damaging	Het
Cd226	T	C	18: 89,265,433 (GRCm39)	V237A	probably damaging	Het
Chek2	T	C	5: 110,989,319 (GRCm39)	C81R	probably benign	Het
Col27a1	T	C	4: 63,242,723 (GRCm39)		probably null	Het
Cracdl	T	A	1: 37,663,858 (GRCm39)	Q680L	probably benign	Het
Crybg3	A	T	16: 59,379,236 (GRCm39)	S673T	probably benign	Het
Csmd2	T	A	4: 128,276,743 (GRCm39)	Y848*	probably null	Het
Dgkb	C	A	12: 38,680,592 (GRCm39)	T764K	probably damaging	Het
Dock4	T	A	12: 40,775,648 (GRCm39)	C530*	probably null	Het
Dpyd	A	G	3: 118,597,780 (GRCm39)	K254R	probably benign	Het
Dstyk	C	T	1: 132,384,614 (GRCm39)	P703S	possibly damaging	Het
Ehhadh	A	T	16: 21,585,140 (GRCm39)	I247N	probably damaging	Het
Fer1l5	T	G	1: 36,440,558 (GRCm39)	L597R	probably damaging	Het
Fignl1	T	C	11: 11,752,842 (GRCm39)	E71G	probably damaging	Het
Fnip2	A	C	3: 79,425,421 (GRCm39)	V58G	probably damaging	Het
Gapdhs	A	T	7: 30,431,349 (GRCm39)	I377N	probably damaging	Het
Gcn1	C	T	5: 115,733,359 (GRCm39)	A1059V	probably damaging	Het
Gpd1	G	A	15: 99,619,967 (GRCm39)	S255N	probably damaging	Het
Grik2	A	C	10: 49,295,792 (GRCm39)	I392S	probably damaging	Het
Hoxb3	T	C	11: 96,236,606 (GRCm39)	L228P	probably damaging	Het
Iws1	A	T	18: 32,223,568 (GRCm39)	M659L	probably benign	Het
Kmt2c	A	G	5: 25,580,364 (GRCm39)	C570R	probably benign	Het
Lamc3	T	A	2: 31,812,279 (GRCm39)		probably null	Het
Lipf	G	A	19: 33,943,048 (GRCm39)	G119R	probably damaging	Het
Lrrc37	T	C	11: 103,507,719 (GRCm39)	I1416M	unknown	Het
Magel2	A	T	7: 62,028,130 (GRCm39)	I345L	probably benign	Het
Mdn1	G	A	4: 32,722,360 (GRCm39)	A2381T	possibly damaging	Het
Med12l	T	C	3: 59,001,007 (GRCm39)	V690A	probably benign	Het
Megf10	GGCAGCAACAGCACCAGCAGCAACAGCACCAGCAGCA	GGCAGCAACAGCACCAGCAGCA	18: 57,427,071 (GRCm39)		probably benign	Het
Mob3b	A	G	4: 35,083,872 (GRCm39)	Y106H	probably damaging	Het
Myo1c	T	C	11: 75,549,519 (GRCm39)	Y166H	probably damaging	Het
Ndst4	A	T	3: 125,364,493 (GRCm39)	H390L	probably benign	Het
Nt5c1b	T	A	12: 10,425,472 (GRCm39)	N280K	probably damaging	Het
Or10aa1	G	A	1: 173,869,900 (GRCm39)	R128H	probably benign	Het
Or5b116	A	T	19: 13,423,252 (GRCm39)	N292I	probably damaging	Het
Otof	A	G	5: 30,527,597 (GRCm39)	F1947L	probably damaging	Het
Pabpc4	G	A	4: 123,189,102 (GRCm39)	A481T	probably benign	Het
Parm1	C	T	5: 91,741,791 (GRCm39)	T53I	possibly damaging	Het
Pilra	C	T	5: 137,833,679 (GRCm39)	R129Q	probably benign	Het
Pkd1	C	T	17: 24,769,250 (GRCm39)	A5V	unknown	Het
Pmch	T	C	10: 87,927,242 (GRCm39)	S82P	probably benign	Het
Prf1	G	A	10: 61,135,934 (GRCm39)	R70H	possibly damaging	Het
Rad51c	T	C	11: 87,292,276 (GRCm39)	S180G	probably benign	Het
Rassf8	A	C	6: 145,760,973 (GRCm39)	T100P	probably damaging	Het
Rnpepl1	A	G	1: 92,844,890 (GRCm39)	E394G	probably damaging	Het
Rufy2	T	A	10: 62,838,772 (GRCm39)	V418E	probably benign	Het
Sdad1	A	T	5: 92,450,538 (GRCm39)	V199D	probably damaging	Het
Sptbn4	A	T	7: 27,063,761 (GRCm39)	S2227T	probably benign	Het
Tac4	A	G	11: 95,156,116 (GRCm39)	M66V	probably benign	Het
Tas2r126	T	C	6: 42,412,031 (GRCm39)	V188A	probably benign	Het
Tcerg1	T	C	18: 42,694,000 (GRCm39)	V707A	possibly damaging	Het
Tmem273	A	G	14: 32,527,129 (GRCm39)	E32G	possibly damaging	Het
Trav13d-4	G	A	14: 53,995,355 (GRCm39)	G103D	probably damaging	Het
Trav8d-1	A	G	14: 53,016,380 (GRCm39)	S89G	probably benign	Het
Ttll4	C	T	1: 74,718,572 (GRCm39)	S141L	probably benign	Het
Vash1	T	C	12: 86,738,614 (GRCm39)	S354P	probably benign	Het
Vmn2r40	T	A	7: 8,911,116 (GRCm39)	I726F		Het
Vmn2r53	A	C	7: 12,340,418 (GRCm39)	N18K	probably damaging	Het
Wnt6	T	C	1: 74,823,422 (GRCm39)	F253S	probably damaging	Het
Zfp599	A	G	9: 22,161,811 (GRCm39)	I118T	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
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
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'- TGGCCCTTAAAGGAACACTC -3'
(R):5'- GCACATTGGCTTGAGCTAGTG -3'

Sequencing Primer
(F):5'- TTAAAGGAACACTCTCACCACG -3'
(R):5'- ACATTGGCTTGAGCTAGTGAGACC -3'

Posted On

2019-11-12