Incidental Mutation 'IGL02156:Cbln4'
ID282243
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Cbln4
Ensembl Gene ENSMUSG00000067578
Gene Namecerebellin 4 precursor protein
Synonyms
Accession Numbers
Is this an essential gene? Possibly non essential (E-score: 0.347) question?
Stock #IGL02156
Quality Score
Status
Chromosome2
Chromosomal Location172036233-172043466 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 172042208 bp
ZygosityHeterozygous
Amino Acid Change Isoleucine to Valine at position 31 (I31V)
Ref Sequence ENSEMBL: ENSMUSP00000085263 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000087950]
Predicted Effect probably benign
Transcript: ENSMUST00000087950
AA Change: I31V

PolyPhen 2 Score 0.244 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000085263
Gene: ENSMUSG00000067578
AA Change: I31V

DomainStartEndE-ValueType
signal peptide 1 24 N/A INTRINSIC
low complexity region 49 60 N/A INTRINSIC
C1Q 61 198 1.14e-46 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000137886
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of a family of small secreted proteins containing C1Q domains. Members of this family are involved in regulation of neurexin signalling during synapse development. The mouse homolog of the protein encoded by this gene competes with netrin to bind to the deleted in colorectal cancer receptor. [provided by RefSeq, Aug 2012]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit no abnormal phenotype. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930408O17Rik G A 12: 104,871,307 noncoding transcript Het
Adam33 G A 2: 131,053,158 probably benign Het
Akr7a5 C A 4: 139,314,269 A163D probably damaging Het
Arap1 T C 7: 101,388,730 probably benign Het
Arhgap8 A G 15: 84,770,035 I306V possibly damaging Het
Asf1a C T 10: 53,606,143 A17V probably benign Het
Atp1a4 A T 1: 172,257,962 S25T probably benign Het
BC030867 C T 11: 102,255,039 S47F probably damaging Het
Ccdc93 T G 1: 121,448,276 L172R possibly damaging Het
Ceacam9 T C 7: 16,723,619 probably benign Het
Crhr1 C A 11: 104,163,883 N107K probably benign Het
Cyp11b1 T A 15: 74,835,797 M488L probably benign Het
Dnah7a A G 1: 53,419,723 V3752A probably benign Het
Dnhd1 G A 7: 105,721,744 V4744M probably damaging Het
Dstyk C A 1: 132,449,926 N423K probably benign Het
Exph5 T C 9: 53,375,641 S1341P probably damaging Het
Fam161b T C 12: 84,354,753 H409R probably benign Het
Fbxo21 A G 5: 117,994,668 probably benign Het
Flt1 A G 5: 147,681,741 I230T probably damaging Het
Gm9931 T C 1: 147,281,628 noncoding transcript Het
Grk6 T C 13: 55,449,361 F36L possibly damaging Het
Grm1 G T 10: 10,719,976 A636D probably damaging Het
Hectd1 A T 12: 51,754,133 probably benign Het
Hltf G A 3: 20,092,807 V577I possibly damaging Het
Lrrc8c A G 5: 105,607,493 D378G probably damaging Het
Mcoln1 C A 8: 3,512,657 S6* probably null Het
Meis1 A T 11: 19,011,292 S194T probably benign Het
Myo1h A C 5: 114,353,911 probably benign Het
Nop9 T A 14: 55,753,283 C557* probably null Het
Nrap T C 19: 56,321,000 D1619G probably damaging Het
Olfr1314 A T 2: 112,092,016 H228Q probably benign Het
Olfr854 A G 9: 19,567,198 M59T probably damaging Het
Olfr934 T A 9: 38,982,546 Y166F possibly damaging Het
Pard3b T A 1: 61,767,950 D41E possibly damaging Het
Parp14 G T 16: 35,858,597 Q334K probably benign Het
Phf3 A T 1: 30,808,778 I1228K probably damaging Het
Polr1b T A 2: 129,123,879 F814I probably benign Het
Rsph1 T G 17: 31,258,116 S282R probably benign Het
Son T C 16: 91,656,104 S580P possibly damaging Het
Sptbn5 G T 2: 120,047,617 probably benign Het
Ssr2 T A 3: 88,583,788 probably null Het
Tfpt A G 7: 3,629,040 S24P probably damaging Het
Tg A G 15: 66,705,348 T1507A probably benign Het
Trpm7 A G 2: 126,799,243 probably benign Het
Wwox G A 8: 114,448,159 probably null Het
Ythdf2 C T 4: 132,204,508 R447H possibly damaging Het
Zfp385c A G 11: 100,629,019 F368S probably damaging Het
Zfp488 A G 14: 33,970,400 S269P possibly damaging Het
Zhx1 A C 15: 58,054,049 V267G possibly damaging Het
Other mutations in Cbln4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00428:Cbln4 APN 2 172039050 missense probably benign 0.44
R1035:Cbln4 UTSW 2 172042069 missense possibly damaging 0.78
R1352:Cbln4 UTSW 2 172037456 missense possibly damaging 0.89
R3031:Cbln4 UTSW 2 172042180 missense probably damaging 0.99
R4013:Cbln4 UTSW 2 172037557 missense probably damaging 0.98
R4881:Cbln4 UTSW 2 172042139 missense possibly damaging 0.78
R4934:Cbln4 UTSW 2 172038981 missense probably damaging 1.00
R6084:Cbln4 UTSW 2 172042096 missense probably damaging 1.00
R7138:Cbln4 UTSW 2 172042175 missense probably damaging 1.00
Posted On2015-04-16