Incidental Mutation 'R1352:Cbln4'
ID 156692
Institutional Source Beutler Lab
Gene Symbol Cbln4
Ensembl Gene ENSMUSG00000067578
Gene Name cerebellin 4 precursor protein
Synonyms
MMRRC Submission 039417-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.223) question?
Stock # R1352 (G1)
Quality Score 225
Status Validated
Chromosome 2
Chromosomal Location 171878256-171885386 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 171879376 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Lysine to Glutamic Acid at position 171 (K171E)
Ref Sequence ENSEMBL: ENSMUSP00000085263 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000087950]
AlphaFold Q8BME9
Predicted Effect possibly damaging
Transcript: ENSMUST00000087950
AA Change: K171E

PolyPhen 2 Score 0.895 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000085263
Gene: ENSMUSG00000067578
AA Change: K171E

DomainStartEndE-ValueType
signal peptide 1 24 N/A INTRINSIC
low complexity region 49 60 N/A INTRINSIC
C1Q 61 198 1.14e-46 SMART
Meta Mutation Damage Score 0.0890 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.2%
  • 10x: 96.0%
  • 20x: 92.5%
Validation Efficiency 95% (42/44)
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: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc8 A G 7: 45,784,892 (GRCm39) probably benign Het
Acbd3 T A 1: 180,566,095 (GRCm39) Y263N probably damaging Het
Aldh4a1 T C 4: 139,362,830 (GRCm39) V142A probably benign Het
Car9 G T 4: 43,512,439 (GRCm39) probably null Het
Cass4 T C 2: 172,258,415 (GRCm39) S138P probably damaging Het
Cd226 A G 18: 89,265,298 (GRCm39) Y79C probably damaging Het
Dclre1a T C 19: 56,533,595 (GRCm39) D333G probably damaging Het
Dst T A 1: 34,268,329 (GRCm39) probably null Het
Eml5 A G 12: 98,797,262 (GRCm39) probably benign Het
Evx1 T C 6: 52,293,995 (GRCm39) S388P probably damaging Het
Gins1 T A 2: 150,772,768 (GRCm39) L177* probably null Het
Gm5422 A C 10: 31,126,731 (GRCm39) noncoding transcript Het
Gmppa T A 1: 75,417,178 (GRCm39) D204E probably benign Het
Ifna7 A C 4: 88,734,897 (GRCm39) T145P possibly damaging Het
Inhbb T C 1: 119,348,425 (GRCm39) D131G probably benign Het
Itpr2 T C 6: 146,013,240 (GRCm39) K2679E probably damaging Het
Kif20b C A 19: 34,902,035 (GRCm39) H4N probably benign Het
Kng1 G T 16: 22,886,444 (GRCm39) probably null Het
Lrrfip1 C T 1: 91,043,089 (GRCm39) A498V probably benign Het
Myo3a T A 2: 22,328,486 (GRCm39) probably null Het
Nkapl T C 13: 21,652,230 (GRCm39) R128G unknown Het
Or51v8 T C 7: 103,319,518 (GRCm39) H240R probably damaging Het
Or5bw2 A T 7: 6,573,782 (GRCm39) Y264F probably benign Het
Prlr T C 15: 10,328,872 (GRCm39) V449A probably benign Het
Rbm44 C A 1: 91,080,764 (GRCm39) D317E probably damaging Het
Sirt5 T C 13: 43,548,283 (GRCm39) S310P probably damaging Het
Spice1 T C 16: 44,207,185 (GRCm39) S856P probably damaging Het
Sptan1 T A 2: 29,911,199 (GRCm39) probably benign Het
St6gal1 A G 16: 23,140,401 (GRCm39) K191E probably damaging Het
Stat6 A T 10: 127,486,680 (GRCm39) Q152L probably benign Het
Stk3 T C 15: 35,008,371 (GRCm39) D253G probably damaging Het
Tas2r139 C T 6: 42,117,874 (GRCm39) A2V probably benign Het
Tfpi2 A G 6: 3,968,281 (GRCm39) L15P probably damaging Het
Topbp1 T A 9: 103,224,207 (GRCm39) C1445S probably benign Het
Trappc11 A T 8: 47,978,081 (GRCm39) H195Q possibly damaging Het
Ttc21a A T 9: 119,783,718 (GRCm39) E600V possibly damaging Het
Ttn T C 2: 76,677,041 (GRCm39) probably benign Het
Vmn2r88 T C 14: 51,656,007 (GRCm39) S740P probably damaging Het
Wrn A C 8: 33,784,944 (GRCm39) V476G probably benign Het
Zdbf2 C A 1: 63,342,212 (GRCm39) A197E probably damaging 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
R3031:Cbln4 UTSW 2 171,884,100 (GRCm39) missense probably damaging 0.99
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'- TGACAGTTAACATGTAAGCAGATCGGG -3'
(R):5'- ACACTGAGGGAAAGTCAGTTTTCCAC -3'

Sequencing Primer
(F):5'- TTAGAGTCCCAGTCCACATATAAGG -3'
(R):5'- aaaaacacacacccacacac -3'
Posted On 2014-02-11