Mutagenetix > Incidental Mutation

Incidental Mutation 'R7526:Nrg1'

582998

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

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7526 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

31814551-32884029 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 31818323 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 603 (N603S)

Ref Sequence

ENSEMBL: ENSMUSP00000073546 (fasta)

Gene Model

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

AlphaFold

A0A140LHZ9

Predicted Effect

probably benign
Transcript: ENSMUST00000073884
AA Change: N603S

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000073546
Gene: ENSMUSG00000062991
AA Change: N603S

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
AA Change: N540S

PolyPhen 2 Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)

Predicted Effect

probably benign
Transcript: ENSMUST00000207470
AA Change: N548S

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)

Predicted Effect

probably benign
Transcript: ENSMUST00000208205
AA Change: N543S

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

Predicted Effect

probably benign
Transcript: ENSMUST00000208335

Predicted Effect

probably benign
Transcript: ENSMUST00000208488
AA Change: N566S

PolyPhen 2 Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)

Predicted Effect

probably benign
Transcript: ENSMUST00000208497

Predicted Effect

probably benign
Transcript: ENSMUST00000208598

Predicted Effect

probably benign
Transcript: ENSMUST00000208617

Predicted Effect

probably benign
Transcript: ENSMUST00000208819

Predicted Effect

possibly damaging
Transcript: ENSMUST00000209107
AA Change: N555S

PolyPhen 2 Score 0.750 (Sensitivity: 0.85; Specificity: 0.92)

Meta Mutation Damage Score

0.0666

Coding Region Coverage

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

Validation Efficiency

100% (74/74)

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: 76 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700086D15Rik	A	T	11: 65,152,981	F85I	unknown	Het
Ankrd22	A	T	19: 34,149,365	W22R	possibly damaging	Het
Aqr	A	T	2: 114,108,109	H1287Q	probably damaging	Het
Armh1	C	A	4: 117,213,741	A396S	probably benign	Het
Atp8b5	A	G	4: 43,366,609	E791G	probably damaging	Het
Bicd1	T	G	6: 149,513,726	S646A	possibly damaging	Het
Bmpr1b	A	T	3: 141,856,599	Y276N	probably damaging	Het
Cadps2	T	C	6: 23,496,851	H465R	probably damaging	Het
Card11	A	T	5: 140,913,429		probably null	Het
Ccdc9	A	G	7: 16,282,400	L139P	probably damaging	Het
Cdk5rap3	A	T	11: 96,909,945	M355K	probably benign	Het
Cnot2	A	T	10: 116,507,080	V116E	probably benign	Het
Defb48	A	G	14: 62,977,831	V32A	possibly damaging	Het
Dmkn	A	G	7: 30,777,651	D460G	possibly damaging	Het
Dmxl2	A	G	9: 54,400,957	V2170A	possibly damaging	Het
Dnah1	A	T	14: 31,287,876	F1912I	possibly damaging	Het
Dok3	C	T	13: 55,527,493	V71I	probably benign	Het
Dzip3	A	T	16: 48,975,474	F178Y	probably damaging	Het
Enpp1	T	C	10: 24,674,410		probably null	Het
Eogt	A	G	6: 97,113,952	F409L	probably damaging	Het
Erich6	A	T	3: 58,630,689	L218H	probably damaging	Het
Fam186a	G	C	15: 99,941,915	I2149M	possibly damaging	Het
Fat1	G	A	8: 45,023,427	V1837I	probably damaging	Het
Flrt3	T	A	2: 140,660,206	T501S	probably damaging	Het
Fmn1	A	C	2: 113,688,134	E1365D	probably damaging	Het
Fzd5	G	T	1: 64,736,092	P170Q	probably benign	Het
Gm13101	A	T	4: 143,965,817	C205S	probably benign	Het
Gm14326	G	A	2: 177,946,505	H233Y	probably damaging	Het
Gm19410	G	A	8: 35,790,612	V735M	probably damaging	Het
Gm21886	ACTCACTGAGGCCTGCAGACAGTAGGTGCTCACTGAGGCCTGCAGACAGTAGGTGCTCACTGAGGCCTGCAGACAGTAGGTGCTCACTGAGACCTGCAGACAGTAGGTGCTCACTGAGACCTGCAGACAGTAGGTGCTCACTGAGG	ACTCACTGAGGCCTGCAGACAGTAGGTGCTCACTGAGGCCTGCAGACAGTAGGTGCTCACTGAGACCTGCAGACAGTAGGTGCTCACTGAGACCTGCAGACAGTAGGTGCTCACTGAGG	18: 80,089,825		probably benign	Het
Gm2832	A	T	14: 41,280,962	I143L		Het
Gm7534	T	C	4: 134,200,073		probably null	Het
Greb1	G	A	12: 16,716,765	T344I	probably benign	Het
Grik2	A	T	10: 49,523,822	Y271N	possibly damaging	Het
Grin3b	A	G	10: 79,973,051	N212D	probably benign	Het
Hgsnat	A	G	8: 25,971,049	L187P	probably damaging	Het
Hmcn1	A	G	1: 150,656,573	I3152T	probably damaging	Het
Hsp90aa1	A	T	12: 110,695,294	I96N	unknown	Het
Il18r1	T	A	1: 40,471,772	L6I	probably damaging	Het
Ing3	G	A	6: 21,953,799	V80I	probably damaging	Het
Kif18b	T	C	11: 102,914,667	I255V	probably damaging	Het
Kif2c	A	T	4: 117,182,432	N20K	possibly damaging	Het
Mfsd6l	T	C	11: 68,558,038	W572R	probably damaging	Het
Mybphl	A	G	3: 108,374,180	T71A	probably benign	Het
Myo7a	G	T	7: 98,085,448	T613K	possibly damaging	Het
Nfatc3	T	C	8: 106,079,083	S195P	probably damaging	Het
Olfr1054	A	T	2: 86,333,353	M1K	probably null	Het
Olfr1084	A	G	2: 86,639,669	I13T	possibly damaging	Het
Olfr629	T	C	7: 103,740,400	Y280C	probably damaging	Het
Parp8	T	C	13: 116,894,805	E457G	probably damaging	Het
Pclo	T	C	5: 14,521,062	F154L	probably benign	Het
Pear1	A	G	3: 87,752,568	S704P	probably damaging	Het
Pkib	A	G	10: 57,736,298	T92A	probably benign	Het
Pnpla7	A	G	2: 24,998,666	R376G	possibly damaging	Het
Ptprd	T	A	4: 76,066,327	E527D	probably benign	Het
Pum1	T	C	4: 130,747,026	V469A	probably damaging	Het
Rnf148	G	A	6: 23,654,284	Q238*	probably null	Het
Scn9a	A	C	2: 66,483,646	N1909K	probably benign	Het
Sema3c	A	T	5: 17,727,596	H699L	possibly damaging	Het
Sema3f	A	T	9: 107,689,728	C201S	probably damaging	Het
Serinc2	T	A	4: 130,258,790	D206V	probably benign	Het
Serping1	A	T	2: 84,767,293	S415T	probably benign	Het
Sirpb1b	A	T	3: 15,548,872	L50Q	probably damaging	Het
Slc25a22	T	C	7: 141,431,383	E262G	probably benign	Het
Slc5a8	A	G	10: 88,902,491	I205M	probably damaging	Het
Sod2	G	T	17: 13,008,031		probably benign	Het
Tec	T	C	5: 72,786,019	I118V	probably benign	Het
Tenm3	A	T	8: 48,287,812	V1212E	probably damaging	Het
Tex44	G	A	1: 86,426,515	V49I	probably benign	Het
Tmem132d	A	T	5: 127,784,141	L972*	probably null	Het
Tpte	G	A	8: 22,325,547		probably null	Het
Trim6	T	A	7: 104,232,832	I456N	probably damaging	Het
Ubr4	G	C	4: 139,422,417	V520L	probably benign	Het
Ubxn8	A	T	8: 33,633,607	N101K	probably benign	Het
Vmn2r60	AG	A	7: 42,195,734		probably null	Het
Vmn2r83	A	G	10: 79,491,558	T667A	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
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
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
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

PCR Primer
(F):5'- TTAGTCCTGCTCTCAGCCAG -3'
(R):5'- CCTTTGTGGAAGAAGAGAGGCC -3'

Sequencing Primer
(F):5'- TGCTCTCAGCCAGACGGAAG -3'
(R):5'- TTCTTGTGACGCCACCGAG -3'

Posted On

2019-10-17