Mutagenetix > Incidental Mutation

Incidental Mutation 'R2937:Nrg3'

255089

Institutional Source

Beutler Lab

Gene Symbol

Nrg3

Ensembl Gene

ENSMUSG00000041014

Gene Name

neuregulin 3

Synonyms

ska

MMRRC Submission

040514-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.126) question?

Stock #

R2937 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

38090909-39195045 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 38092965 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Isoleucine at position 540 (N540I)

Ref Sequence

ENSEMBL: ENSMUSP00000129783 (fasta)

Gene Model

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

AlphaFold

O35181

Predicted Effect

possibly damaging
Transcript: ENSMUST00000166968
AA Change: N556I

PolyPhen 2 Score 0.870 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000136884
Gene: ENSMUSG00000041014
AA Change: N556I

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

possibly damaging
Transcript: ENSMUST00000168810
AA Change: N540I

PolyPhen 2 Score 0.935 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000129783
Gene: ENSMUSG00000041014
AA Change: N540I

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

possibly damaging
Transcript: ENSMUST00000173780
AA Change: N532I

PolyPhen 2 Score 0.870 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000134727
Gene: ENSMUSG00000041014
AA Change: N532I

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

0.1266

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.4%
20x: 95.6%

Validation Efficiency

100% (73/73)

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: 73 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acsm1	A	G	7: 119,258,350 (GRCm39)	E481G	probably damaging	Het
Anks1b	C	T	10: 89,912,928 (GRCm39)	T351M	probably damaging	Het
Arhgap45	T	A	10: 79,864,836 (GRCm39)	M933K	probably damaging	Het
Asph	A	C	4: 9,542,314 (GRCm39)		probably benign	Het
Bace2	T	C	16: 97,213,388 (GRCm39)		probably null	Het
Cacna1b	A	G	2: 24,496,540 (GRCm39)	V125A	probably benign	Het
Cbarp	T	C	10: 79,967,603 (GRCm39)	D539G	probably damaging	Het
Ccdc59	A	T	10: 105,677,388 (GRCm39)	K9M	possibly damaging	Het
Cdh15	G	A	8: 123,588,763 (GRCm39)	R279Q	probably damaging	Het
Cdr1	T	G	X: 60,228,968 (GRCm39)	D66A	unknown	Het
Cela3b	A	G	4: 137,150,574 (GRCm39)	I208T	probably benign	Het
Cfap91	A	T	16: 38,131,400 (GRCm39)	I471N	possibly damaging	Het
Clca3a2	T	A	3: 144,519,679 (GRCm39)	T232S	probably benign	Het
Col1a2	G	A	6: 4,519,882 (GRCm39)		probably benign	Het
Col1a2	A	T	6: 4,520,788 (GRCm39)	Q375L	possibly damaging	Het
Cpd	T	C	11: 76,702,685 (GRCm39)	N561S	probably damaging	Het
Csn1s1	A	T	5: 87,824,995 (GRCm39)	Q221L	possibly damaging	Het
Depdc5	G	A	5: 33,058,965 (GRCm39)		probably null	Het
Dnah10	T	C	5: 124,896,476 (GRCm39)		probably null	Het
Dsg2	T	C	18: 20,712,185 (GRCm39)	F107S	probably damaging	Het
Dthd1	A	G	5: 63,000,300 (GRCm39)	I541V	probably benign	Het
Eml6	G	A	11: 29,783,049 (GRCm39)		probably benign	Het
Fermt2	A	C	14: 45,741,948 (GRCm39)		probably null	Het
Gimap8	A	T	6: 48,635,730 (GRCm39)	R498S	possibly damaging	Het
Glis1	A	G	4: 107,489,488 (GRCm39)	N692D	possibly damaging	Het
Grtp1	G	A	8: 13,239,755 (GRCm39)		probably benign	Het
Hecw1	G	T	13: 14,420,421 (GRCm39)	Q1001K	possibly damaging	Het
Hydin	T	C	8: 111,130,927 (GRCm39)	V606A	possibly damaging	Het
Krt33b	T	A	11: 99,914,835 (GRCm39)	N388I	probably benign	Het
Lipf	T	C	19: 33,950,438 (GRCm39)	Y277H	probably damaging	Het
Lmod1	A	G	1: 135,291,654 (GRCm39)	K170E	probably benign	Het
Lrrtm1	A	T	6: 77,220,635 (GRCm39)	M31L	probably benign	Het
Man1c1	A	G	4: 134,430,263 (GRCm39)	I173T	possibly damaging	Het
Med17	T	C	9: 15,187,187 (GRCm39)	K196E	probably damaging	Het
Mmp25	T	A	17: 23,863,765 (GRCm39)	I22F	probably benign	Het
Nsun5	C	T	5: 135,404,317 (GRCm39)	Q375*	probably null	Het
Or52ad1	T	C	7: 102,995,272 (GRCm39)	M288V	probably benign	Het
Or52r1c	T	A	7: 102,735,548 (GRCm39)	H269Q	probably benign	Het
Pcdh1	G	T	18: 38,322,815 (GRCm39)	A1006E	probably benign	Het
Pdss1	T	A	2: 22,796,799 (GRCm39)		probably null	Het
Plaa	G	A	4: 94,457,696 (GRCm39)	A758V	probably damaging	Het
Prl6a1	T	A	13: 27,499,303 (GRCm39)	W24R	probably damaging	Het
Ptk7	T	C	17: 46,883,476 (GRCm39)	H863R	probably damaging	Het
Rbm10	T	C	X: 20,513,934 (GRCm39)	L429P	possibly damaging	Het
Rhou	T	C	8: 124,387,880 (GRCm39)	I204T	possibly damaging	Het
Serpind1	G	T	16: 17,154,972 (GRCm39)	M266I	probably benign	Het
Sgcg	A	T	14: 61,467,074 (GRCm39)	F175L	probably damaging	Het
Slc2a2	T	G	3: 28,772,920 (GRCm39)	C238G	probably damaging	Het
Slc39a8	A	G	3: 135,592,584 (GRCm39)	M420V	probably benign	Het
Slc7a9	C	A	7: 35,163,167 (GRCm39)	Y457*	probably null	Het
Smpd3	C	T	8: 106,991,452 (GRCm39)	R367H	probably damaging	Het
Sntb2	T	C	8: 107,662,729 (GRCm39)	V99A	probably benign	Het
Specc1l	T	G	10: 75,094,965 (GRCm39)	I796R	probably damaging	Het
Stfa2l1	G	T	16: 35,980,316 (GRCm39)	V29F	probably damaging	Het
Synrg	T	C	11: 83,885,180 (GRCm39)	F455S	probably damaging	Het
Tap2	T	C	17: 34,431,328 (GRCm39)	V422A	possibly damaging	Het
Tcf7	A	T	11: 52,173,610 (GRCm39)		probably null	Het
Tcp10a	A	G	17: 7,597,173 (GRCm39)	Y110C	probably damaging	Het
Thoc1	T	A	18: 9,959,255 (GRCm39)	S43R	probably damaging	Het
Tlr1	A	G	5: 65,083,251 (GRCm39)	V442A	probably damaging	Het
Tmub1	A	G	5: 24,650,922 (GRCm39)	*261Q	probably null	Het
Trpc3	G	A	3: 36,688,532 (GRCm39)	R836*	probably null	Het
Tsbp1	A	T	17: 34,640,836 (GRCm39)	H57L	possibly damaging	Het
Ube2u	T	C	4: 100,381,495 (GRCm39)	S185P	possibly damaging	Het
Vamp5	A	G	6: 72,346,323 (GRCm39)	V91A	probably benign	Het
Vcp	A	G	4: 42,980,846 (GRCm39)	Y755H	probably damaging	Het
Vmn1r35	A	T	6: 66,655,950 (GRCm39)	M73K	possibly damaging	Het
Vmn2r12	C	T	5: 109,239,397 (GRCm39)	E389K	probably damaging	Het
Wdfy3	A	T	5: 102,091,988 (GRCm39)	F450L	probably benign	Het
Xpo4	G	T	14: 57,841,897 (GRCm39)	Q473K	probably benign	Het
Xpo7	A	G	14: 70,909,130 (GRCm39)	I797T	probably damaging	Het
Xylt1	C	A	7: 117,234,011 (GRCm39)	Q513K	probably benign	Het
Zfp229	T	C	17: 21,964,484 (GRCm39)	F238S	probably 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
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
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'- TGACGTCAGAAATCCCTGGC -3'
(R):5'- GGAAGACTATATCCCACCTGCC -3'

Sequencing Primer
(F):5'- GACGTCAGAAATCCCTGGCATTTG -3'
(R):5'- TGTGACCTTGAGCAAGTCAC -3'

Posted On

2014-12-29