Incidental Mutation 'R2379:Btc'
ID 248375
Institutional Source Beutler Lab
Gene Symbol Btc
Ensembl Gene ENSMUSG00000082361
Gene Name betacellulin, epidermal growth factor family member
Synonyms
MMRRC Submission 040355-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R2379 (G1)
Quality Score 225
Status Validated
Chromosome 5
Chromosomal Location 91505120-91550853 bp(-) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) A to T at 91524768 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000143920 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000121044] [ENSMUST00000200860]
AlphaFold Q05928
Predicted Effect probably benign
Transcript: ENSMUST00000121044
SMART Domains Protein: ENSMUSP00000112765
Gene: ENSMUSG00000082361

DomainStartEndE-ValueType
signal peptide 1 31 N/A INTRINSIC
EGF 68 105 4.32e-1 SMART
transmembrane domain 117 139 N/A INTRINSIC
low complexity region 145 165 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000200860
SMART Domains Protein: ENSMUSP00000143920
Gene: ENSMUSG00000082361

DomainStartEndE-ValueType
signal peptide 1 31 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000201090
Predicted Effect noncoding transcript
Transcript: ENSMUST00000201252
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.4%
  • 10x: 96.8%
  • 20x: 93.3%
Validation Efficiency 93% (37/40)
MGI Phenotype FUNCTION: This gene encodes a member of the epidermal growth factor (EGF) family. These growth factors are ligands for the EGFR/ErbB receptor tyrosine kinases, and play roles in cell growth and differentiation. The encoded protein is synthesized as a transmembrane precursor that is proteolytically cleaved to generate a mature peptide, and plays a role in the differentiation of pancreatic beta cells. This gene may also play a protective role in acute pancreatitis, whereas increased expression of this gene may contribute to diabetic macular edema. Gene therapy using combinations of this gene and other pancreas-specific transcription factors may induce islet neogenesis and remediate hyperglycemia in type 1 diabetes. [provided by RefSeq, Apr 2011]
PHENOTYPE: Mice homozygous for a knock-out allele are viable and fertile and exhibit no overt defects. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 34 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aff4 T C 11: 53,299,305 (GRCm39) probably benign Het
Anpep T C 7: 79,490,966 (GRCm39) T209A probably benign Het
Asb16 A G 11: 102,163,357 (GRCm39) T116A probably benign Het
Brd10 G T 19: 29,696,275 (GRCm39) Q1140K probably benign Het
C4b T C 17: 34,954,717 (GRCm39) D860G possibly damaging Het
Cd177 G A 7: 24,457,468 (GRCm39) T191I possibly damaging Het
Cngb1 A G 8: 95,986,758 (GRCm39) L378P probably damaging Het
Ddx60 T C 8: 62,490,122 (GRCm39) F1697S probably damaging Het
Dop1a G A 9: 86,403,138 (GRCm39) S1446N probably damaging Het
Fn1 T A 1: 71,688,443 (GRCm39) K154* probably null Het
Gm10801 G T 2: 98,494,185 (GRCm39) S109I probably benign Het
Ifi204 T A 1: 173,583,559 (GRCm39) R220* probably null Het
Limk1 A G 5: 134,708,335 (GRCm39) probably benign Het
Mcm2 G A 6: 88,869,990 (GRCm39) R60C probably damaging Het
Mms22l T A 4: 24,496,929 (GRCm39) S8T possibly damaging Het
Mpp7 T A 18: 7,403,345 (GRCm39) R322* probably null Het
Mycbp2 T C 14: 103,412,386 (GRCm39) N2529S probably benign Het
Npr3 A G 15: 11,883,449 (GRCm39) F327L probably damaging Het
Or12j3 A T 7: 139,952,748 (GRCm39) Y258* probably null Het
Or14c41 T G 7: 86,235,400 (GRCm39) F306V probably benign Het
Or14c46 T C 7: 85,918,857 (GRCm39) T47A probably damaging Het
Or51f5 A T 7: 102,424,052 (GRCm39) H107L probably benign Het
Or5p1 T C 7: 107,916,499 (GRCm39) S133P probably benign Het
Or6c217 A T 10: 129,737,781 (GRCm39) V266E probably damaging Het
Or7e177 T C 9: 20,211,963 (GRCm39) S157P possibly damaging Het
Pld2 A T 11: 70,445,140 (GRCm39) Y580F probably benign Het
Scart2 A T 7: 139,879,682 (GRCm39) D990V probably benign Het
Sik3 A G 9: 46,066,707 (GRCm39) E162G probably damaging Het
Sla2 G A 2: 156,717,862 (GRCm39) R137C probably damaging Het
Spen T C 4: 141,244,238 (GRCm39) T266A unknown Het
Tnks1bp1 A G 2: 84,894,182 (GRCm39) S1370G probably benign Het
Usp28 A G 9: 48,914,395 (GRCm39) R99G probably null Het
Vmn2r13 T G 5: 109,319,644 (GRCm39) E445D probably benign Het
Vmn2r27 A G 6: 124,201,342 (GRCm39) I205T possibly damaging Het
Other mutations in Btc
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02434:Btc APN 5 91,510,186 (GRCm39) missense probably damaging 0.98
R1570:Btc UTSW 5 91,550,576 (GRCm39) missense unknown
R1929:Btc UTSW 5 91,510,260 (GRCm39) missense probably damaging 1.00
R4965:Btc UTSW 5 91,510,160 (GRCm39) splice site probably null
R5344:Btc UTSW 5 91,524,779 (GRCm39) missense possibly damaging 0.77
R5928:Btc UTSW 5 91,514,004 (GRCm39) missense probably damaging 0.98
R7072:Btc UTSW 5 91,550,796 (GRCm39) unclassified probably benign
R8910:Btc UTSW 5 91,508,671 (GRCm39) missense probably benign 0.00
R9074:Btc UTSW 5 91,508,603 (GRCm39) critical splice donor site probably null
R9157:Btc UTSW 5 91,513,980 (GRCm39) missense probably damaging 1.00
R9307:Btc UTSW 5 91,550,515 (GRCm39) critical splice donor site probably null
Predicted Primers PCR Primer
(F):5'- GACCTTTGGTGAGATAACCTTAAGG -3'
(R):5'- TCCACAGTGGGTCATGACAC -3'

Sequencing Primer
(F):5'- GTGAGATAACCTTAAGGGAGTTTTG -3'
(R):5'- TCCACAGTGGGTCATGACACTAAAAG -3'
Posted On 2014-11-11