Mutagenetix > Incidental Mutation

Incidental Mutation 'R6294:Nrg3'

508632

Institutional Source

Beutler Lab

Gene Symbol

Nrg3

Ensembl Gene

ENSMUSG00000041014

Gene Name

neuregulin 3

Synonyms

ska

MMRRC Submission

044406-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.157) question?

Stock #

R6294 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

38090909-39195045 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 38119196 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Glutamine at position 425 (H425Q)

Ref Sequence

ENSEMBL: ENSMUSP00000134727 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000166968] [ENSMUST00000168810] [ENSMUST00000173780]

AlphaFold

O35181

Predicted Effect

probably benign
Transcript: ENSMUST00000166968
AA Change: H425Q

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000136884
Gene: ENSMUSG00000041014
AA Change: H425Q

Domain	Start	End	E-Value	Type
low complexity region	2	49	N/A	INTRINSIC
transmembrane domain	69	91	N/A	INTRINSIC
low complexity region	127	148	N/A	INTRINSIC
low complexity region	195	208	N/A	INTRINSIC
low complexity region	254	274	N/A	INTRINSIC
EGF	291	331	3.57e-2	SMART
Pfam:Neuregulin	355	480	3.3e-12	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000168810
AA Change: H425Q

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

SMART Domains

Protein: ENSMUSP00000129783
Gene: ENSMUSG00000041014
AA Change: H425Q

Domain	Start	End	E-Value	Type
low complexity region	2	49	N/A	INTRINSIC
transmembrane domain	69	91	N/A	INTRINSIC
low complexity region	127	148	N/A	INTRINSIC
low complexity region	195	208	N/A	INTRINSIC
low complexity region	254	274	N/A	INTRINSIC
EGF	291	331	3.57e-2	SMART
transmembrane domain	363	385	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000173780
AA Change: H425Q

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

SMART Domains

Protein: ENSMUSP00000134727
Gene: ENSMUSG00000041014
AA Change: H425Q

Domain	Start	End	E-Value	Type
low complexity region	2	49	N/A	INTRINSIC
transmembrane domain	69	91	N/A	INTRINSIC
low complexity region	127	148	N/A	INTRINSIC
low complexity region	195	208	N/A	INTRINSIC
low complexity region	254	274	N/A	INTRINSIC
EGF	291	331	3.57e-2	SMART
transmembrane domain	363	385	N/A	INTRINSIC

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.6%
20x: 96.2%

Validation Efficiency

99% (71/72)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is a member of the neuregulin gene family. This gene family encodes ligands for the transmembrane tyrosine kinase receptors ERBB3 and ERBB4 - members of the epidermal growth factor receptor family. Ligand binding activates intracellular signaling cascades and the induction of cellular responses including proliferation, migration, differentiation, and survival or apoptosis. This gene encodes neuregulin 3 (NRG3). NRG3 has been shown to activate the tyrosine phosphorylation of its cognate receptor, ERBB4, and is thought to influence neuroblast proliferation, migration and differentiation by signalling through ERBB4. NRG3 also promotes mammary differentiation during embryogenesis. Linkage studies have implicated this gene as a susceptibility locus for schizophrenia and schizoaffective disorder. Alternative splicing results in multiple transcript variants encoding distinct isoforms. Additional transcript variants have been described but their biological validity has not been verified.[provided by RefSeq, Sep 2009]
PHENOTYPE: Mutations in this gene result in abnormal, genetic background specific, mammary gland development. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A2m	A	T	6: 121,631,440 (GRCm39)	H579L	probably benign	Het
Aldh2	G	A	5: 121,710,879 (GRCm39)	Q8*	probably null	Het
Ankdd1a	G	T	9: 65,427,446 (GRCm39)	H10Q	probably benign	Het
Arpp21	A	G	9: 111,956,520 (GRCm39)	F453L	probably damaging	Het
Birc6	C	A	17: 74,996,252 (GRCm39)	D4461E	probably benign	Het
Cacna1b	A	T	2: 24,609,069 (GRCm39)	S411T	possibly damaging	Het
Camk2g	A	G	14: 20,815,017 (GRCm39)	I203T	probably damaging	Het
Cat	A	T	2: 103,290,640 (GRCm39)	C425S	probably benign	Het
Ccdc34	A	G	2: 109,848,496 (GRCm39)	D95G	probably benign	Het
Clca4b	T	C	3: 144,630,946 (GRCm39)	S305G	probably null	Het
Cul7	T	C	17: 46,974,074 (GRCm39)	I1453T	probably benign	Het
Dlg1	T	A	16: 31,656,942 (GRCm39)	I612N	probably damaging	Het
Dync2h1	T	G	9: 7,084,986 (GRCm39)	K561T	probably benign	Het
Erbin	T	C	13: 103,993,564 (GRCm39)	T359A	probably benign	Het
Far2	T	A	6: 148,058,980 (GRCm39)	L222Q	probably damaging	Het
Fbxw17	A	G	13: 50,577,839 (GRCm39)	E114G	probably benign	Het
Fryl	A	T	5: 73,349,102 (GRCm39)		probably benign	Het
Ggn	A	G	7: 28,873,273 (GRCm39)	D666G	possibly damaging	Het
Hal	G	A	10: 93,350,005 (GRCm39)		probably null	Het
Htt	A	G	5: 34,979,170 (GRCm39)	D851G	probably benign	Het
Ighv14-2	A	T	12: 113,958,218 (GRCm39)	D74E	probably benign	Het
Igkv5-43	G	A	6: 69,800,426 (GRCm39)	S87L	probably damaging	Het
Klhl29	A	T	12: 5,133,995 (GRCm39)	F720I	probably damaging	Het
Klk1b8	T	A	7: 43,602,196 (GRCm39)	Y43N	probably damaging	Het
Krtap20-1	T	A	16: 88,880,989 (GRCm39)	Y7N	unknown	Het
Lama4	T	A	10: 38,951,466 (GRCm39)	F1070L	probably damaging	Het
Map4	A	G	9: 109,831,814 (GRCm39)	E98G	possibly damaging	Het
Mbtd1	C	T	11: 93,823,058 (GRCm39)	H493Y	possibly damaging	Het
Mki67	A	G	7: 135,306,319 (GRCm39)	M581T	probably benign	Het
Mtss2	T	A	8: 111,453,960 (GRCm39)	N43K	possibly damaging	Het
Mylk3	T	A	8: 86,077,012 (GRCm39)	I475F	probably damaging	Het
Nat14	C	T	7: 4,927,073 (GRCm39)	R82*	probably null	Het
Nckap1	T	C	2: 80,371,858 (GRCm39)	N324S	probably benign	Het
Nemp1	C	T	10: 127,530,391 (GRCm39)	T281M	possibly damaging	Het
Omd	T	A	13: 49,743,467 (GRCm39)	N172K	probably damaging	Het
Or10c1	T	C	17: 37,522,517 (GRCm39)	T76A	probably benign	Het
Or12d12	T	A	17: 37,610,444 (GRCm39)	T290S	probably benign	Het
Or4f62	A	G	2: 111,986,364 (GRCm39)	I23V	probably benign	Het
Or52a33	A	G	7: 103,288,798 (GRCm39)	M183T	probably damaging	Het
Or52r1c	A	T	7: 102,734,874 (GRCm39)	I45F	probably benign	Het
Or5b123	T	C	19: 13,596,730 (GRCm39)	V25A	probably benign	Het
Orc1	T	C	4: 108,447,867 (GRCm39)	I38T	probably benign	Het
Oxct1	A	G	15: 4,172,304 (GRCm39)	T457A	possibly damaging	Het
Pcdh17	A	T	14: 84,715,108 (GRCm39)	K924N	probably benign	Het
Pkhd1l1	A	T	15: 44,433,424 (GRCm39)	I3435F	probably damaging	Het
Psg20	C	A	7: 18,416,604 (GRCm39)	V171F	probably damaging	Het
Rab11fip2	A	T	19: 59,925,531 (GRCm39)	S87T	probably damaging	Het
Rabgap1l	T	C	1: 160,059,419 (GRCm39)	T237A	probably benign	Het
Rasgrp1	A	T	2: 117,122,273 (GRCm39)	Y372*	probably null	Het
Rell1	G	T	5: 64,097,048 (GRCm39)		probably benign	Het
Rps14	A	G	18: 60,910,033 (GRCm39)	K61E	possibly damaging	Het
Rtl6	A	G	15: 84,441,321 (GRCm39)	V25A	possibly damaging	Het
Ryr2	G	T	13: 11,894,382 (GRCm39)	S185R	probably damaging	Het
Slc10a2	C	T	8: 5,141,621 (GRCm39)		probably null	Het
Slc14a1	T	A	18: 78,153,273 (GRCm39)		probably null	Het
Smad2	A	T	18: 76,422,233 (GRCm39)	N215I	probably benign	Het
Smchd1	A	T	17: 71,677,922 (GRCm39)	N1473K	probably benign	Het
Spag9	A	G	11: 93,984,311 (GRCm39)		probably null	Het
Stk31	A	C	6: 49,394,278 (GRCm39)	R213S	probably benign	Het
Tmod4	A	T	3: 95,035,617 (GRCm39)	Q255L	probably benign	Het
Tnpo1	T	A	13: 99,027,282 (GRCm39)	Y3F	probably benign	Het
Tom1l1	A	C	11: 90,552,587 (GRCm39)	Y206*	probably null	Het
Tulp2	A	G	7: 45,164,116 (GRCm39)	K36E	probably damaging	Het
Tulp4	C	T	17: 6,252,094 (GRCm39)	R282C	probably damaging	Het
Unc5b	A	T	10: 60,614,110 (GRCm39)	N246K	possibly damaging	Het
Ush2a	C	G	1: 188,268,567 (GRCm39)	S1674R	possibly damaging	Het
Vmn1r224	T	C	17: 20,640,083 (GRCm39)	I220T	probably benign	Het
Vmn1r7	G	C	6: 57,001,404 (GRCm39)	N285K	probably benign	Het
Vmn2r83	C	T	10: 79,313,688 (GRCm39)	P99S	probably damaging	Het
Zbtb38	A	G	9: 96,569,282 (GRCm39)	F601L	probably benign	Het
Zc3h3	A	T	15: 75,681,417 (GRCm39)	S555T	possibly damaging	Het

Other mutations in Nrg3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00703:Nrg3	APN	14	38,092,758 (GRCm39)	missense	probably damaging	0.99
IGL01994:Nrg3	APN	14	38,734,043 (GRCm39)	missense	probably damaging	1.00
IGL02002:Nrg3	APN	14	38,092,724 (GRCm39)	nonsense	probably null
IGL02247:Nrg3	APN	14	38,093,269 (GRCm39)	missense	probably damaging	0.98
IGL02967:Nrg3	APN	14	38,390,256 (GRCm39)	splice site	probably benign
R6803_Nrg3_459	UTSW	14	38,733,957 (GRCm39)	nonsense	probably null
FR4304:Nrg3	UTSW	14	38,119,230 (GRCm39)	small insertion	probably benign
FR4449:Nrg3	UTSW	14	38,119,228 (GRCm39)	small insertion	probably benign
FR4548:Nrg3	UTSW	14	38,119,228 (GRCm39)	small insertion	probably benign
FR4589:Nrg3	UTSW	14	38,119,223 (GRCm39)	small insertion	probably benign
R0178:Nrg3	UTSW	14	38,098,413 (GRCm39)	missense	probably damaging	1.00
R0825:Nrg3	UTSW	14	39,194,348 (GRCm39)	missense	possibly damaging	0.67
R1545:Nrg3	UTSW	14	38,129,111 (GRCm39)	missense	probably benign	0.03
R2009:Nrg3	UTSW	14	38,092,771 (GRCm39)	missense	probably damaging	0.99
R2022:Nrg3	UTSW	14	38,098,309 (GRCm39)	missense	probably damaging	0.98
R2264:Nrg3	UTSW	14	38,103,659 (GRCm39)	missense	probably damaging	1.00
R2937:Nrg3	UTSW	14	38,092,965 (GRCm39)	missense	possibly damaging	0.94
R2958:Nrg3	UTSW	14	39,194,669 (GRCm39)	missense	unknown
R3085:Nrg3	UTSW	14	38,092,906 (GRCm39)	missense	probably damaging	0.99
R3801:Nrg3	UTSW	14	38,098,391 (GRCm39)	missense	probably damaging	0.96
R3803:Nrg3	UTSW	14	38,098,391 (GRCm39)	missense	probably damaging	0.96
R4246:Nrg3	UTSW	14	39,194,198 (GRCm39)	missense	possibly damaging	0.58
R5584:Nrg3	UTSW	14	39,194,654 (GRCm39)	small deletion	probably benign
R5625:Nrg3	UTSW	14	38,092,950 (GRCm39)	missense	probably damaging	0.99
R5870:Nrg3	UTSW	14	39,194,586 (GRCm39)	missense	possibly damaging	0.95
R6007:Nrg3	UTSW	14	39,194,409 (GRCm39)	nonsense	probably null
R6047:Nrg3	UTSW	14	38,119,309 (GRCm39)	critical splice acceptor site	probably null
R6803:Nrg3	UTSW	14	38,733,957 (GRCm39)	nonsense	probably null
R7023:Nrg3	UTSW	14	38,098,333 (GRCm39)	missense	probably damaging	1.00
R7159:Nrg3	UTSW	14	38,092,692 (GRCm39)	nonsense	probably null
R7194:Nrg3	UTSW	14	39,194,435 (GRCm39)	missense	probably benign	0.17
R7297:Nrg3	UTSW	14	38,092,896 (GRCm39)	missense	probably benign	0.10
R7413:Nrg3	UTSW	14	38,092,669 (GRCm39)	missense	probably damaging	0.99
R7474:Nrg3	UTSW	14	38,733,956 (GRCm39)	missense	probably damaging	0.98
R7684:Nrg3	UTSW	14	39,194,522 (GRCm39)	missense	probably damaging	1.00
R7848:Nrg3	UTSW	14	38,390,240 (GRCm39)	missense	probably damaging	1.00
R8342:Nrg3	UTSW	14	38,734,053 (GRCm39)	missense	probably damaging	1.00
R8435:Nrg3	UTSW	14	39,194,654 (GRCm39)	small deletion	probably benign
R8797:Nrg3	UTSW	14	38,093,243 (GRCm39)	missense	probably benign	0.20
R9060:Nrg3	UTSW	14	38,734,052 (GRCm39)	missense	probably damaging	1.00
R9136:Nrg3	UTSW	14	38,119,262 (GRCm39)	missense	possibly damaging	0.65
R9435:Nrg3	UTSW	14	39,194,556 (GRCm39)	missense	possibly damaging	0.95
X0020:Nrg3	UTSW	14	38,119,198 (GRCm39)	missense	probably benign	0.01
Z1176:Nrg3	UTSW	14	39,194,490 (GRCm39)	missense	possibly damaging	0.88

Predicted Primers

PCR Primer
(F):5'- CCTGTCAGCGACCAGTTATTG -3'
(R):5'- GCCAAGACCTAGCTTCAAACTTTTAAC -3'

Sequencing Primer
(F):5'- CTCAGATGTTCAAGTAATGGCCAGC -3'
(R):5'- ACCTAGCTTCAAACTTTTAACTGTAG -3'

Posted On

2018-03-15