Incidental Mutation 'R3031:Cbln4'
ID 264719
Institutional Source Beutler Lab
Gene Symbol Cbln4
Ensembl Gene ENSMUSG00000067578
Gene Name cerebellin 4 precursor protein
Synonyms
MMRRC Submission 040547-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.210) question?
Stock # R3031 (G1)
Quality Score 225
Status Not validated
Chromosome 2
Chromosomal Location 171878256-171885386 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 171884100 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 40 (V40A)
Ref Sequence ENSEMBL: ENSMUSP00000085263 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000087950]
AlphaFold Q8BME9
Predicted Effect probably damaging
Transcript: ENSMUST00000087950
AA Change: V40A

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000085263
Gene: ENSMUSG00000067578
AA Change: V40A

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
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.2%
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: 25 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc5 C A 16: 20,193,863 (GRCm39) V753L probably damaging Het
Ap3b1 T C 13: 94,702,151 (GRCm39) L1068P unknown Het
Cacna1h C A 17: 25,652,108 (GRCm39) R12L probably damaging Het
Ccdc170 T C 10: 4,468,931 (GRCm39) S160P probably damaging Het
Cdc37 T C 9: 21,054,487 (GRCm39) E46G possibly damaging Het
Cltc T C 11: 86,621,158 (GRCm39) H287R probably damaging Het
Dsg1a A T 18: 20,473,549 (GRCm39) D874V probably damaging Het
Gjd4 G T 18: 9,280,811 (GRCm39) S89* probably null Het
Gkn3 C T 6: 87,360,507 (GRCm39) A163T probably damaging Het
Hydin A G 8: 111,329,848 (GRCm39) R4861G possibly damaging Het
Kcnh8 GAGACCAACGAGCAGCTGATGCTTCAGA GAGA 17: 53,032,934 (GRCm39) 74 probably benign Het
Lipe T C 7: 25,084,320 (GRCm39) E588G possibly damaging Het
Mael T C 1: 166,032,375 (GRCm39) D328G probably damaging Het
Mboat7 A G 7: 3,681,687 (GRCm39) V398A probably benign Het
Slc35e1 A G 8: 73,238,735 (GRCm39) W258R probably benign Het
Slc9a8 A G 2: 167,293,201 (GRCm39) D183G probably damaging Het
Sorcs1 G A 19: 50,213,613 (GRCm39) R705C probably damaging Het
Sult3a1 G A 10: 33,753,345 (GRCm39) D214N possibly damaging Het
Traf3ip1 T C 1: 91,447,822 (GRCm39) V433A probably damaging Het
Ubxn7 T A 16: 32,194,125 (GRCm39) D232E probably benign Het
Upf1 C T 8: 70,791,110 (GRCm39) R544H probably damaging Het
Vps13c T C 9: 67,831,052 (GRCm39) S1561P probably benign Het
Wdr48 T C 9: 119,753,176 (GRCm39) V593A probably benign Het
Zfp58 A G 13: 67,640,231 (GRCm39) F87L probably benign Het
Zfp663 A T 2: 165,195,616 (GRCm39) L201* probably null Het
Other mutations in Cbln4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00428:Cbln4 APN 2 171,880,970 (GRCm39) missense probably benign 0.44
IGL02156:Cbln4 APN 2 171,884,128 (GRCm39) missense probably benign 0.24
R1035:Cbln4 UTSW 2 171,883,989 (GRCm39) missense possibly damaging 0.78
R1352:Cbln4 UTSW 2 171,879,376 (GRCm39) missense possibly damaging 0.89
R4013:Cbln4 UTSW 2 171,879,477 (GRCm39) missense probably damaging 0.98
R4881:Cbln4 UTSW 2 171,884,059 (GRCm39) missense possibly damaging 0.78
R4934:Cbln4 UTSW 2 171,880,901 (GRCm39) missense probably damaging 1.00
R6084:Cbln4 UTSW 2 171,884,016 (GRCm39) missense probably damaging 1.00
R7138:Cbln4 UTSW 2 171,884,095 (GRCm39) missense probably damaging 1.00
R9695:Cbln4 UTSW 2 171,879,469 (GRCm39) missense probably damaging 0.99
Predicted Primers PCR Primer
(F):5'- GGGAGTCTGACCTGATCAAAG -3'
(R):5'- TCAGTCCTGAGAATTGGTGGAAG -3'

Sequencing Primer
(F):5'- CCTGATCAAAGTAAATGATGCGAGTC -3'
(R):5'- TGCAGCGCTGTCGATCTAG -3'
Posted On 2015-02-05