Incidental Mutation 'R7684:Nrg3'
ID 592961
Institutional Source Beutler Lab
Gene Symbol Nrg3
Ensembl Gene ENSMUSG00000041014
Gene Name neuregulin 3
Synonyms ska
MMRRC Submission 067780-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.157) question?
Stock # R7684 (G1)
Quality Score 225.009
Status Validated
Chromosome 14
Chromosomal Location 38090909-39195045 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 39194522 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Glutamine at position 79 (L79Q)
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: L79Q

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000136884
Gene: ENSMUSG00000041014
AA Change: L79Q

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: L79Q

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000129783
Gene: ENSMUSG00000041014
AA Change: L79Q

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: L79Q

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000134727
Gene: ENSMUSG00000041014
AA Change: L79Q

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 0.1401 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.0%
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: 74 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2210408I21Rik A T 13: 77,760,659 (GRCm39) K1239* probably null Het
Abhd6 T C 14: 8,039,807 (GRCm38) F60S probably damaging Het
Adam6b G A 12: 113,455,196 (GRCm39) W671* probably null Het
Ankrd36 A G 11: 5,520,113 (GRCm39) T63A possibly damaging Het
Arhgef16 A G 4: 154,366,285 (GRCm39) V494A possibly damaging Het
Arhgef7 T A 8: 11,869,663 (GRCm39) M659K probably benign Het
Cacna1h A G 17: 25,608,346 (GRCm39) Y854H probably damaging Het
Chd3 A T 11: 69,248,692 (GRCm39) F780I possibly damaging Het
Cldn8 A G 16: 88,359,335 (GRCm39) Y197H probably damaging Het
Cpne8 A T 15: 90,533,450 (GRCm39) D58E probably damaging Het
Cul9 T G 17: 46,820,815 (GRCm39) Y1954S probably damaging Het
Cyp4a10 T A 4: 115,375,549 (GRCm39) F11I probably benign Het
Cysrt1 A T 2: 25,129,094 (GRCm39) C139* probably null Het
Dnajc16 A G 4: 141,501,879 (GRCm39) V317A probably benign Het
Dnmt3a T C 12: 3,947,340 (GRCm39) V437A probably benign Het
Dok5 T C 2: 170,683,344 (GRCm39) C202R probably damaging Het
Dusp11 T A 6: 85,927,542 (GRCm39) R164S probably damaging Het
Dysf T C 6: 84,077,117 (GRCm39) S648P probably benign Het
Egfem1 A T 3: 29,744,334 (GRCm39) R581S probably damaging Het
Enpep A G 3: 129,115,094 (GRCm39) F226S probably damaging Het
Ep400 A G 5: 110,845,218 (GRCm39) I1541T unknown Het
Exd1 A G 2: 119,350,684 (GRCm39) S526P probably damaging Het
Fam118a A G 15: 84,942,982 (GRCm39) E337G possibly damaging Het
Fam20b T C 1: 156,518,215 (GRCm39) N193S probably benign Het
Fat3 A G 9: 15,899,564 (GRCm39) probably null Het
Flg2 T C 3: 93,126,956 (GRCm39) V1956A unknown Het
Fzd10 A G 5: 128,678,480 (GRCm39) I67V possibly damaging Het
Gckr A T 5: 31,465,141 (GRCm39) D370V probably damaging Het
Gm8797 A T 3: 5,816,148 (GRCm39) Q62L probably benign Het
H6pd G T 4: 150,080,519 (GRCm39) Q109K probably benign Het
Higd1a T C 9: 121,679,322 (GRCm39) K55R possibly damaging Het
Il1b C T 2: 129,209,277 (GRCm39) V118I probably benign Het
Insr T C 8: 3,219,753 (GRCm39) N923S possibly damaging Het
Krit1 A G 5: 3,880,723 (GRCm39) I561V possibly damaging Het
Lamc2 T C 1: 153,002,771 (GRCm39) D1070G probably null Het
Lpcat2 T A 8: 93,635,823 (GRCm39) D408E possibly damaging Het
Mst1r T A 9: 107,788,762 (GRCm39) F427Y probably benign Het
Mtx1 A T 3: 89,117,739 (GRCm39) I258K possibly damaging Het
Nckap5 T C 1: 125,954,594 (GRCm39) T653A probably benign Het
Npas3 A T 12: 54,115,609 (GRCm39) N844Y probably damaging Het
Nsmce1 C A 7: 125,070,348 (GRCm39) K154N probably damaging Het
Oard1 T C 17: 48,723,726 (GRCm39) L124P probably damaging Het
Or10ag57 T C 2: 87,218,372 (GRCm39) S108P probably damaging Het
Or10ak13 T C 4: 118,639,471 (GRCm39) M104V probably benign Het
Or51a10 G A 7: 103,698,667 (GRCm39) T298I probably damaging Het
Or51ah3 T C 7: 103,210,425 (GRCm39) F247S probably benign Het
Ovgp1 A T 3: 105,887,272 (GRCm39) T223S probably damaging Het
Pik3c2a A T 7: 115,987,312 (GRCm39) Y536* probably null Het
Plekho2 A T 9: 65,466,816 (GRCm39) probably null Het
Prelid3b T C 2: 174,310,210 (GRCm39) probably null Het
Rftn1 G T 17: 50,354,408 (GRCm39) A318D probably damaging Het
Rxfp1 T A 3: 79,578,214 (GRCm39) N159I possibly damaging Het
Sfmbt1 A G 14: 30,532,311 (GRCm39) Q557R probably damaging Het
Slc22a18 G T 7: 143,044,577 (GRCm39) V177L probably benign Het
Slc22a8 A G 19: 8,587,294 (GRCm39) I451M probably benign Het
Slc39a12 T C 2: 14,454,670 (GRCm39) S563P probably damaging Het
Snx20 T C 8: 89,353,863 (GRCm39) D289G probably benign Het
Sptb A G 12: 76,658,969 (GRCm39) Y1189H probably benign Het
Tbc1d1 T A 5: 64,473,829 (GRCm39) M784K probably benign Het
Tbkbp1 T C 11: 97,038,559 (GRCm39) probably benign Het
Tfap2b G C 1: 19,284,511 (GRCm39) D140H probably damaging Het
Thy1 G A 9: 43,957,855 (GRCm39) G13D unknown Het
Ticam1 A G 17: 56,576,984 (GRCm39) S704P unknown Het
Tmem151b A G 17: 45,857,929 (GRCm39) Y106H probably damaging Het
Trappc8 T C 18: 20,996,559 (GRCm39) N452S probably benign Het
Ttc9c A G 19: 8,789,128 (GRCm39) Y166H probably damaging Het
Txndc16 A G 14: 45,385,325 (GRCm39) V556A possibly damaging Het
Tyrp1 C A 4: 80,758,862 (GRCm39) S245Y probably damaging Het
Urb1 A T 16: 90,583,006 (GRCm39) L621* probably null Het
Wdr72 A T 9: 74,054,292 (GRCm39) T224S probably damaging Het
Zc3h18 T G 8: 123,134,165 (GRCm39) S544A unknown Het
Zfp462 T A 4: 55,008,908 (GRCm39) N291K probably benign Het
Zfp609 T C 9: 65,638,362 (GRCm39) N290S possibly damaging Het
Zfp979 A T 4: 147,697,799 (GRCm39) H303Q 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
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
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
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'- GTTAGGCGTCCTGGAAGAAG -3'
(R):5'- AGATCGGCTCCTAGGATGAGTG -3'

Sequencing Primer
(F):5'- TCCTGGAAGAAGCGGCG -3'
(R):5'- CTCCTAGGATGAGTGAAGGGGC -3'
Posted On 2019-11-12