Mutagenetix > Incidental Mutation

Incidental Mutation 'R2958:Nrg3'

263272

Institutional Source

Beutler Lab

Gene Symbol

Nrg3

Ensembl Gene

ENSMUSG00000041014

Gene Name

neuregulin 3

Synonyms

ska

MMRRC Submission

040519-MU

Accession Numbers

Essential gene?

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

Stock #

R2958 (G1)

Quality Score

Status

Not validated

Chromosome

Chromosomal Location

38090909-39195045 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 39194669 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Glutamic Acid at position 30 (A30E)

Ref Sequence

ENSEMBL: ENSMUSP00000134727 (fasta)

Gene Model

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

AlphaFold

O35181

Predicted Effect

unknown
Transcript: ENSMUST00000166968
AA Change: A30E

SMART Domains

Protein: ENSMUSP00000136884
Gene: ENSMUSG00000041014
AA Change: A30E

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

unknown
Transcript: ENSMUST00000168810
AA Change: A30E

SMART Domains

Protein: ENSMUSP00000129783
Gene: ENSMUSG00000041014
AA Change: A30E

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

unknown
Transcript: ENSMUST00000173780
AA Change: A30E

SMART Domains

Protein: ENSMUSP00000134727
Gene: ENSMUSG00000041014
AA Change: A30E

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

noncoding transcript
Transcript: ENSMUST00000176122

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.1%

Validation Efficiency

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: 14 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ankhd1	T	A	18: 36,767,782 (GRCm39)	L1233Q	probably damaging	Het
Cdk5rap2	ATGTG	ATG	4: 70,208,214 (GRCm39)		probably null	Het
Cep78	C	A	19: 15,956,273 (GRCm39)	R222L	probably damaging	Het
Eml5	T	C	12: 98,842,437 (GRCm39)	I220M	possibly damaging	Het
Kirrel1	C	T	3: 86,996,458 (GRCm39)	M380I	probably null	Het
Lhx5	A	G	5: 120,573,542 (GRCm39)	N175S	probably benign	Het
Numa1	C	A	7: 101,658,702 (GRCm39)	R1663S	possibly damaging	Het
Nwd2	G	A	5: 63,963,325 (GRCm39)	V970I	probably benign	Het
Or51ah3	T	C	7: 103,210,512 (GRCm39)	V276A	possibly damaging	Het
Snx18	G	A	13: 113,753,422 (GRCm39)	Q504*	probably null	Het
Tdrd9	T	C	12: 112,008,106 (GRCm39)	V982A	probably damaging	Het
Tex11	C	A	X: 99,977,021 (GRCm39)	A487S	possibly damaging	Het
Tor4a	G	T	2: 25,084,980 (GRCm39)	Q308K	possibly damaging	Het
Zfr	G	A	15: 12,162,319 (GRCm39)	R823H	probably benign	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
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
R6294:Nrg3	UTSW	14	38,119,196 (GRCm39)	missense	probably benign	0.00
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'- CGATCCATTTAAGCAGCATGAG -3'
(R):5'- GCAGGGAGCCGATTTGCAT -3'

Sequencing Primer
(F):5'- AGTCGCTACAGCGTAAC -3'
(R):5'- AGCCGATTTGCATGCGGC -3'

Posted On

2015-02-05