Incidental Mutation 'R0178:Nrg3'
ID 23779
Institutional Source Beutler Lab
Gene Symbol Nrg3
Ensembl Gene ENSMUSG00000041014
Gene Name neuregulin 3
Synonyms ska
MMRRC Submission 038446-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.157) question?
Stock # R0178 (G1)
Quality Score 225
Status Validated (trace)
Chromosome 14
Chromosomal Location 38090909-39195045 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 38098413 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Glutamine at position 480 (H480Q)
Ref Sequence ENSEMBL: ENSMUSP00000136884 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000166968] [ENSMUST00000168810] [ENSMUST00000173780]
AlphaFold O35181
Predicted Effect probably damaging
Transcript: ENSMUST00000166968
AA Change: H480Q

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000136884
Gene: ENSMUSG00000041014
AA Change: H480Q

DomainStartEndE-ValueType
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 damaging
Transcript: ENSMUST00000168810
AA Change: H488Q

PolyPhen 2 Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000129783
Gene: ENSMUSG00000041014
AA Change: H488Q

DomainStartEndE-ValueType
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 damaging
Transcript: ENSMUST00000173780
AA Change: H480Q

PolyPhen 2 Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000134727
Gene: ENSMUSG00000041014
AA Change: H480Q

DomainStartEndE-ValueType
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 0.1029 question?
Coding Region Coverage
  • 1x: 98.9%
  • 3x: 98.1%
  • 10x: 95.5%
  • 20x: 88.8%
Validation Efficiency 95% (69/73)
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: 53 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930596D02Rik T G 14: 35,533,435 (GRCm39) N111T probably benign Het
Abca1 T C 4: 53,081,953 (GRCm39) D769G possibly damaging Het
Adcy6 G T 15: 98,502,096 (GRCm39) Q173K probably benign Het
Amotl1 G A 9: 14,460,069 (GRCm39) A890V probably benign Het
Arfgap2 C T 2: 91,097,706 (GRCm39) A141V probably benign Het
Asb2 G A 12: 103,291,811 (GRCm39) P324L probably damaging Het
Brd10 A G 19: 29,732,188 (GRCm39) S342P probably damaging Het
Cacna1g G A 11: 94,354,309 (GRCm39) T202I probably damaging Het
Capn5 A G 7: 97,782,098 (GRCm39) L214P probably damaging Het
Cdh20 A T 1: 104,902,776 (GRCm39) D489V possibly damaging Het
Cers5 C A 15: 99,644,905 (GRCm39) probably benign Het
Chct1 A G 11: 85,069,264 (GRCm39) H94R probably benign Het
Chrnb3 T A 8: 27,883,392 (GRCm39) V111D probably damaging Het
Clec2m T C 6: 129,303,786 (GRCm39) R60G probably benign Het
Colec12 C T 18: 9,858,921 (GRCm39) P568L unknown Het
Cyp2r1 T C 7: 114,149,643 (GRCm39) E248G probably damaging Het
Dnaaf11 A C 15: 66,325,950 (GRCm39) D208E probably benign Het
Dnmt3b A G 2: 153,516,938 (GRCm39) T536A probably benign Het
Eef2 G A 10: 81,016,126 (GRCm39) V496M possibly damaging Het
Fam118a T C 15: 84,930,081 (GRCm39) probably benign Het
Fer1l6 T A 15: 58,509,763 (GRCm39) probably null Het
Fhad1 A C 4: 141,682,651 (GRCm39) F497V probably benign Het
Gbe1 G A 16: 70,275,274 (GRCm39) G358D probably damaging Het
Gdf10 A G 14: 33,646,058 (GRCm39) D69G probably damaging Het
Ggt6 A G 11: 72,327,644 (GRCm39) H150R possibly damaging Het
Gm45713 A T 7: 44,783,882 (GRCm39) L110Q probably damaging Het
Gm9847 T C 12: 14,544,649 (GRCm39) noncoding transcript Het
Grwd1 T C 7: 45,480,054 (GRCm39) E51G probably damaging Het
Gvin3 A T 7: 106,201,028 (GRCm39) Y739N probably damaging Het
H13 A G 2: 152,522,987 (GRCm39) Y100C probably damaging Het
Kcne1 A C 16: 92,145,697 (GRCm39) M49R probably damaging Het
Kcnma1 C T 14: 23,576,835 (GRCm39) R236H probably damaging Het
Knl1 T A 2: 118,888,886 (GRCm39) probably benign Het
Krt40 T C 11: 99,432,565 (GRCm39) I150M probably damaging Het
Ldb2 A T 5: 44,630,841 (GRCm39) V300E probably damaging Het
Lrp1b A T 2: 40,615,919 (GRCm39) C3606S probably damaging Het
Lrrc42 A G 4: 107,104,917 (GRCm39) I16T probably damaging Het
Mtus1 G T 8: 41,455,398 (GRCm39) L87I possibly damaging Het
Myot T C 18: 44,470,053 (GRCm39) F10S probably damaging Het
Or52b2 G A 7: 104,986,129 (GRCm39) R265C probably benign Het
Or5ac23 A T 16: 59,149,783 (GRCm39) F30I probably damaging Het
Prl2c5 A T 13: 13,366,390 (GRCm39) D220V probably damaging Het
Rbm17 G A 2: 11,592,590 (GRCm39) S295L probably benign Het
Serpina6 A G 12: 103,613,172 (GRCm39) I376T probably damaging Het
Sh2d2a A T 3: 87,756,730 (GRCm39) T192S probably benign Het
Slc27a1 T C 8: 72,037,106 (GRCm39) Y417H possibly damaging Het
Slc6a1 T G 6: 114,281,813 (GRCm39) I32S possibly damaging Het
Sntb1 T C 15: 55,769,540 (GRCm39) T150A probably damaging Het
Tanc1 T A 2: 59,665,791 (GRCm39) C1183* probably null Het
Tmprss7 C A 16: 45,511,206 (GRCm39) W57C probably damaging Het
Ubac1 A T 2: 25,911,440 (GRCm39) V36E possibly damaging Het
Zfc3h1 T C 10: 115,242,630 (GRCm39) probably benign Het
Zfp644 C T 5: 106,784,771 (GRCm39) C592Y probably damaging Het
Other mutations in Nrg3
AlleleSourceChrCoordTypePredicted EffectPPH 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
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
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'- AGTCTCCCATGTAAGTCCCTTGCTG -3'
(R):5'- GGCCAGGAACACAAGGAATTGTCTC -3'

Sequencing Primer
(F):5'- CCATGTAAGTCCCTTGCTGTAAAAC -3'
(R):5'- AGGAATTGTCTCTCAGCACC -3'
Posted On 2013-04-16