Mutagenetix > Incidental Mutation

Incidental Mutation 'R0533:Nrg1'

261913

Institutional Source

Beutler Lab

Gene Symbol

Nrg1

Ensembl Gene

ENSMUSG00000062991

Gene Name

neuregulin 1

Synonyms

D230005F13Rik, Hgl, GGF, HRGalpha, ARIA, 6030402G23Rik, HRG, GGFII, HGL, NDF, SMDF, heregulin

MMRRC Submission

038725-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R0533 (G1)

Quality Score

212

Status

Not validated

Chromosome

Chromosomal Location

31814551-32884029 bp(-) (GRCm38)

Type of Mutation

splice site

DNA Base Change (assembly)

T to C at 31831245 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000146617 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000073884] [ENSMUST00000207417] [ENSMUST00000207470] [ENSMUST00000208205] [ENSMUST00000208488] [ENSMUST00000208497] [ENSMUST00000208497] [ENSMUST00000208598] [ENSMUST00000208617] [ENSMUST00000208819] [ENSMUST00000208931] [ENSMUST00000209022] [ENSMUST00000209107] [ENSMUST00000209107]

AlphaFold

A0A140LHZ9

Predicted Effect

probably null
Transcript: ENSMUST00000073884

SMART Domains

Protein: ENSMUSP00000073546
Gene: ENSMUSG00000062991

Domain	Start	End	E-Value	Type
transmembrane domain	78	100	N/A	INTRINSIC
low complexity region	180	198	N/A	INTRINSIC
low complexity region	223	232	N/A	INTRINSIC
EGF	236	277	7.88e-4	SMART
Pfam:Neuregulin	295	688	5.3e-193	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000207417

Predicted Effect

probably null
Transcript: ENSMUST00000207470

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000207678

Predicted Effect

probably benign
Transcript: ENSMUST00000208205

Predicted Effect

probably benign
Transcript: ENSMUST00000208335

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000208355

Predicted Effect

probably benign
Transcript: ENSMUST00000208488

Predicted Effect

probably null
Transcript: ENSMUST00000208497

Predicted Effect

probably null
Transcript: ENSMUST00000208497

Predicted Effect

probably benign
Transcript: ENSMUST00000208598

Predicted Effect

probably benign
Transcript: ENSMUST00000208617

Predicted Effect

probably benign
Transcript: ENSMUST00000208819

Predicted Effect

probably benign
Transcript: ENSMUST00000208931

Predicted Effect

probably benign
Transcript: ENSMUST00000209022

Predicted Effect

probably null
Transcript: ENSMUST00000209107

Predicted Effect

probably null
Transcript: ENSMUST00000209107

Coding Region Coverage

1x: 99.1%
3x: 98.2%
10x: 96.0%
20x: 91.5%

Validation Efficiency

100% (57/57)

MGI Phenotype

PHENOTYPE: Homozygotes for targeted null mutations exhibit heart defects, impaired development of Schwann cell precursors, cranial ganglia, and radial glia cells, and die at embryonic day 10.5-11.5. Heterozygotes are hyperactive with reduced NMDA receptors. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aadat	T	G	8: 60,531,763		probably benign	Het
Abcb1b	A	T	5: 8,864,113		probably null	Het
Adcy10	A	G	1: 165,564,023	N1283S	probably benign	Het
Adgrb1	T	A	15: 74,541,559	W531R	probably damaging	Het
Ago4	A	G	4: 126,516,860	V246A	probably benign	Het
Arid5b	A	T	10: 68,186,033	D242E	probably damaging	Het
Arpp21	A	G	9: 112,126,505	V522A	probably benign	Het
Atg4b	T	A	1: 93,784,910		probably benign	Het
Capn12	T	C	7: 28,887,683	F359S	possibly damaging	Het
Ccdc88c	A	T	12: 100,954,282	I360N	probably damaging	Het
Clic3	A	G	2: 25,458,138	Y99C	probably damaging	Het
Cux1	T	C	5: 136,307,859	E925G	probably damaging	Het
Dnah10	G	A	5: 124,775,250		probably null	Het
Dnah17	A	G	11: 118,110,537	V860A	possibly damaging	Het
Etv5	C	T	16: 22,436,075		probably benign	Het
Fam83a	T	A	15: 58,009,811	N345K	probably benign	Het
G3bp1	T	C	11: 55,498,626	F383L	probably damaging	Het
Gm13089	G	T	4: 143,698,020	C284*	probably null	Het
Gpm6a	A	G	8: 55,055,374		probably null	Het
Grid1	T	A	14: 35,309,385	Y312N	possibly damaging	Het
Gstm4	T	C	3: 108,043,525	N51S	probably benign	Het
Hid1	A	T	11: 115,348,809	I765N	probably damaging	Het
Hmmr	A	G	11: 40,709,989	V518A	unknown	Het
Itgb6	A	G	2: 60,669,197	V84A	probably benign	Het
Kbtbd4	A	G	2: 90,907,604	K233E	probably benign	Het
Kif15	A	T	9: 123,009,433		probably benign	Het
Klre1	T	C	6: 129,583,193	S143P	probably damaging	Het
Krt81	T	C	15: 101,461,389	D216G	probably benign	Het
Mctp2	G	T	7: 72,080,822	H868Q	probably benign	Het
Morc2b	G	C	17: 33,135,932	Y955*	probably null	Het
Myog	A	C	1: 134,290,473	N140H	possibly damaging	Het
Myrf	G	C	19: 10,218,162	T428S	probably benign	Het
Naip2	A	C	13: 100,161,782	I582S	probably benign	Het
Neil3	A	T	8: 53,638,775		probably null	Het
Olfr681	G	A	7: 105,122,350	V298I	probably benign	Het
Olfr689	A	T	7: 105,314,372	M123L	probably benign	Het
Olfr99	A	T	17: 37,280,291	L43*	probably null	Het
Pramef25	A	T	4: 143,950,720	D96E	possibly damaging	Het
Ptger2	T	A	14: 44,988,982	N6K	possibly damaging	Het
Ryr1	T	A	7: 29,078,780	E2097V	probably damaging	Het
Sel1l	A	T	12: 91,820,094	F397Y	probably damaging	Het
Skint5	A	G	4: 113,827,867	V551A	unknown	Het
Slc39a12	A	G	2: 14,400,331	T245A	probably benign	Het
Syne1	C	T	10: 5,358,438	V706I	probably benign	Het
Tbc1d8	G	T	1: 39,372,774	Q994K	possibly damaging	Het
Tnrc6b	C	T	15: 80,876,653	T187I	probably benign	Het
Ttll6	G	A	11: 96,154,756	A600T	probably benign	Het
Ust	T	C	10: 8,248,080		probably benign	Het
Vmn2r71	GT	GTT	7: 85,619,218		probably null	Het
Vstm2a	C	T	11: 16,263,041	A142V	probably damaging	Het
Wfs1	T	A	5: 36,973,722		probably benign	Het
Wrap73	G	A	4: 154,151,649	G145D	probably damaging	Het
Wrap73	G	A	4: 154,156,154	V368M	possibly damaging	Het
Xrra1	T	A	7: 99,875,145		probably null	Het
Zfhx2	C	T	14: 55,064,090	V2146I	probably benign	Het
Zfp335	A	T	2: 164,907,922	L185*	probably null	Het

Other mutations in Nrg1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00330:Nrg1	APN	8	31818089	missense	probably damaging	0.99
IGL00500:Nrg1	APN	8	31822314	splice site	probably null
IGL01150:Nrg1	APN	8	31917875	missense	probably damaging	1.00
IGL01998:Nrg1	APN	8	31918134	missense	probably damaging	0.99
IGL02010:Nrg1	APN	8	31918143	missense	probably benign	0.00
IGL02501:Nrg1	APN	8	31818263	splice site	probably null
IGL02741:Nrg1	APN	8	31822288	missense	probably damaging	1.00
IGL02754:Nrg1	APN	8	31826363	splice site	probably benign
IGL03056:Nrg1	APN	8	31821423	missense	possibly damaging	0.93
IGL03121:Nrg1	APN	8	31824580	splice site	probably benign
R6805_Nrg1_535	UTSW	8	31821264	missense	probably damaging	1.00
R1170:Nrg1	UTSW	8	31837667	splice site	probably benign
R1405:Nrg1	UTSW	8	31917827	missense	probably benign	0.16
R1405:Nrg1	UTSW	8	31917827	missense	probably benign	0.16
R1486:Nrg1	UTSW	8	31818344	missense	probably damaging	1.00
R1642:Nrg1	UTSW	8	31824508	missense	probably benign	0.45
R1653:Nrg1	UTSW	8	31818653	missense	probably damaging	1.00
R1762:Nrg1	UTSW	8	31822323	missense	probably damaging	0.99
R1951:Nrg1	UTSW	8	31918193	missense	probably damaging	1.00
R2060:Nrg1	UTSW	8	31918015	missense	probably damaging	1.00
R2912:Nrg1	UTSW	8	31818567	missense	probably damaging	1.00
R3786:Nrg1	UTSW	8	31821383	missense	probably damaging	1.00
R4513:Nrg1	UTSW	8	32477077	intron	probably benign
R4569:Nrg1	UTSW	8	31917774	missense	probably benign	0.00
R4760:Nrg1	UTSW	8	31918200	nonsense	probably null
R4769:Nrg1	UTSW	8	31917972	missense	probably damaging	1.00
R4834:Nrg1	UTSW	8	31917719	missense	probably benign
R5058:Nrg1	UTSW	8	31824559	missense	probably damaging	1.00
R5230:Nrg1	UTSW	8	31818479	missense	probably damaging	0.99
R5443:Nrg1	UTSW	8	31849320	missense	probably damaging	1.00
R5479:Nrg1	UTSW	8	31818377	missense	probably damaging	1.00
R5940:Nrg1	UTSW	8	31849344	missense	probably damaging	0.99
R6010:Nrg1	UTSW	8	31818572	missense	probably damaging	1.00
R6170:Nrg1	UTSW	8	31818480	missense	probably damaging	1.00
R6379:Nrg1	UTSW	8	32883721	start gained	probably benign
R6460:Nrg1	UTSW	8	31818533	missense	probably damaging	1.00
R6750:Nrg1	UTSW	8	31818096	missense	probably damaging	1.00
R6767:Nrg1	UTSW	8	31917895	missense	probably damaging	1.00
R6802:Nrg1	UTSW	8	31821264	missense	probably damaging	1.00
R6804:Nrg1	UTSW	8	31821264	missense	probably damaging	1.00
R6805:Nrg1	UTSW	8	31821264	missense	probably damaging	1.00
R6848:Nrg1	UTSW	8	31818056	missense	probably damaging	1.00
R6930:Nrg1	UTSW	8	31818506	missense	probably damaging	1.00
R6963:Nrg1	UTSW	8	31917662	missense	probably benign	0.04
R7070:Nrg1	UTSW	8	31849437	missense	probably damaging	0.99
R7176:Nrg1	UTSW	8	31968036	nonsense	probably null
R7490:Nrg1	UTSW	8	31818654	missense	probably damaging	1.00
R7526:Nrg1	UTSW	8	31818323	missense	probably benign	0.00
R7664:Nrg1	UTSW	8	32009141	splice site	probably null
R7881:Nrg1	UTSW	8	31838324	nonsense	probably null
R8013:Nrg1	UTSW	8	31949923	missense	probably benign	0.41
R8342:Nrg1	UTSW	8	31822306	missense	probably benign	0.04
R8759:Nrg1	UTSW	8	31818075	missense	probably damaging	1.00
R8783:Nrg1	UTSW	8	31958601	missense	probably benign	0.09
R9319:Nrg1	UTSW	8	31833176	missense	probably benign	0.02
R9429:Nrg1	UTSW	8	31818564	missense	probably benign	0.01
R9535:Nrg1	UTSW	8	31949967	missense	probably benign	0.13
R9632:Nrg1	UTSW	8	31917593	missense	possibly damaging	0.48
Z1088:Nrg1	UTSW	8	31918005	missense	possibly damaging	0.68

Predicted Primers

Posted On

2015-02-04