Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL01998:Nrg1'

182980

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Nrg1

Ensembl Gene

ENSMUSG00000062991

Gene Name

neuregulin 1

Synonyms

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

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL01998

Quality Score

Status

Chromosome

Chromosomal Location

31814551-32884029 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 31918134 bp

Zygosity

Heterozygous

Amino Acid Change

Serine to Glycine at position 24 (S24G)

Ref Sequence

ENSEMBL: ENSMUSP00000073546 (fasta)

Gene Model

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000073884
AA Change: S24G

PolyPhen 2 Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000073546
Gene: ENSMUSG00000062991
AA Change: S24G

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 benign
Transcript: ENSMUST00000207470

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000207584

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000207678

Predicted Effect

probably benign
Transcript: ENSMUST00000208205

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000208206

Predicted Effect

probably benign
Transcript: ENSMUST00000208335

Predicted Effect

probably benign
Transcript: ENSMUST00000208488

Predicted Effect

probably benign
Transcript: ENSMUST00000208497
AA Change: S24G

PolyPhen 2 Score 0.370 (Sensitivity: 0.90; Specificity: 0.89)

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

noncoding transcript
Transcript: ENSMUST00000208820

Predicted Effect

probably benign
Transcript: ENSMUST00000209022

Predicted Effect

probably benign
Transcript: ENSMUST00000209107

Coding Region Coverage

Validation Efficiency

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: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
3110043O21Rik	A	T	4: 35,194,179	D205E	probably benign	Het
4930435E12Rik	A	T	16: 38,828,224	D174E	probably benign	Het
4932438A13Rik	T	C	3: 36,957,016	S1788P	possibly damaging	Het
Arpc3	T	C	5: 122,403,407	C78R	probably damaging	Het
Atp6v0b	A	G	4: 117,886,066		probably null	Het
B3gnt8	A	G	7: 25,628,778	Y211C	probably damaging	Het
Birc6	T	C	17: 74,579,885	I736T	probably benign	Het
Bpifb9a	T	C	2: 154,268,200		probably null	Het
C3ar1	A	T	6: 122,850,940	M106K	probably damaging	Het
Cab39l	T	A	14: 59,496,895	L21Q	probably damaging	Het
Casp1	A	T	9: 5,303,043	I166F	probably damaging	Het
Cd180	A	G	13: 102,705,214	E256G	probably damaging	Het
Clca4a	T	C	3: 144,958,126	T519A	probably damaging	Het
Clstn3	A	T	6: 124,458,663	L233Q	probably damaging	Het
Crlf3	G	A	11: 80,058,019		probably benign	Het
Depdc5	T	C	5: 32,945,151		probably benign	Het
Drc7	T	A	8: 95,059,193	C226S	probably damaging	Het
Epha5	T	A	5: 84,084,734	D807V	probably damaging	Het
Fat2	A	G	11: 55,296,195	L1275P	probably benign	Het
Fv1	T	C	4: 147,869,327	C117R	possibly damaging	Het
Ighg2b	C	A	12: 113,307,089	M140I	unknown	Het
Klra5	A	T	6: 129,906,713	Y60*	probably null	Het
Lmtk2	C	T	5: 144,176,065	T1201I	probably damaging	Het
Ncapd2	A	T	6: 125,169,933	L1230H	probably damaging	Het
Ncapd2	A	T	6: 125,173,115	S917T	probably benign	Het
Nfx1	T	A	4: 41,004,353	I708N	probably damaging	Het
Notch2	A	T	3: 98,143,106	D1899V	probably damaging	Het
Npepl1	T	A	2: 174,116,200		probably benign	Het
Nps	T	A	7: 135,268,752		probably benign	Het
Olfr330	A	T	11: 58,529,577	Y136*	probably null	Het
Olfr352	A	G	2: 36,869,646	N27D	probably benign	Het
Olfr698	G	A	7: 106,752,551	T279M	possibly damaging	Het
Olfr730	C	A	14: 50,186,648	V190L	probably benign	Het
Pigx	G	T	16: 32,084,610	T211K	probably benign	Het
Pink1	A	G	4: 138,320,742	I223T	probably damaging	Het
Plat	G	A	8: 22,767,147	A15T	probably benign	Het
Ptges2	G	A	2: 32,401,530	A310T	possibly damaging	Het
Rsl1d1	A	G	16: 11,194,645	S306P	possibly damaging	Het
Rxfp1	T	C	3: 79,660,096	K316E	probably benign	Het
Scn10a	A	G	9: 119,609,676	I1708T	probably damaging	Het
Sdk2	A	T	11: 113,838,532	F1073Y	probably damaging	Het
Sp100	A	G	1: 85,666,929	D170G	probably benign	Het
Spock1	A	T	13: 57,436,181		probably benign	Het
Strbp	A	G	2: 37,625,285	L243P	probably damaging	Het
Tgm5	T	A	2: 121,052,439	T446S	probably damaging	Het
Tmem59l	C	T	8: 70,484,781	V239I	probably benign	Het
Trav8-1	A	T	14: 53,470,205	T101S	probably benign	Het
Triml1	T	C	8: 43,141,313	D27G	probably damaging	Het
Vmn2r54	T	C	7: 12,615,300	E785G	probably benign	Het
Vps13c	A	G	9: 67,955,068		probably null	Het
Wwp2	C	T	8: 107,549,521	R64C	probably damaging	Het
Zfp608	T	C	18: 54,891,818	H1460R	probably damaging	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
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
R0533:Nrg1	UTSW	8	31831245	splice site	probably null
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
Z1088:Nrg1	UTSW	8	31918005	missense	possibly damaging	0.68

Posted On

2014-05-07