Incidental Mutation 'R1035:Cbln4'
ID 95509
Institutional Source Beutler Lab
Gene Symbol Cbln4
Ensembl Gene ENSMUSG00000067578
Gene Name cerebellin 4 precursor protein
Synonyms
MMRRC Submission 039134-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.223) question?
Stock # R1035 (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 171883989 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Serine at position 77 (N77S)
Ref Sequence ENSEMBL: ENSMUSP00000085263 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000087950]
AlphaFold Q8BME9
Predicted Effect possibly damaging
Transcript: ENSMUST00000087950
AA Change: N77S

PolyPhen 2 Score 0.783 (Sensitivity: 0.85; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000085263
Gene: ENSMUSG00000067578
AA Change: N77S

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
Meta Mutation Damage Score 0.1139 question?
Coding Region Coverage
  • 1x: 98.9%
  • 3x: 97.9%
  • 10x: 94.9%
  • 20x: 88.4%
Validation Efficiency 97% (36/37)
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: 30 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aasdh G A 5: 77,024,130 (GRCm39) T174M probably damaging Het
Ap3b2 A T 7: 81,113,659 (GRCm39) L850Q unknown Het
Asxl3 T C 18: 22,658,106 (GRCm39) S2039P probably damaging Het
Cadm2 A T 16: 66,612,235 (GRCm39) M109K probably damaging Het
Caskin1 A G 17: 24,724,011 (GRCm39) N933S probably damaging Het
Chek1 A G 9: 36,627,769 (GRCm39) I256T probably damaging Het
Col5a3 A T 9: 20,704,795 (GRCm39) probably benign Het
Cyp2b10 C T 7: 25,616,473 (GRCm39) S360L probably benign Het
Dctn1 T C 6: 83,167,202 (GRCm39) S222P probably damaging Het
Dnah7b A G 1: 46,163,608 (GRCm39) I471V probably benign Het
Ear2 A T 14: 44,340,344 (GRCm39) M1L possibly damaging Het
Entpd6 T A 2: 150,606,112 (GRCm39) probably benign Het
Extl1 TGCGTTGCACCGATACCGGG TG 4: 134,084,988 (GRCm39) probably benign Het
Fam98b C T 2: 117,101,120 (GRCm39) R311W possibly damaging Het
Ggt7 A T 2: 155,348,347 (GRCm39) C102S probably damaging Het
Myo15a T C 11: 60,401,384 (GRCm39) probably benign Het
Nlrp9c C T 7: 26,070,702 (GRCm39) probably benign Het
Nrxn1 A T 17: 90,471,302 (GRCm39) N1234K probably damaging Het
Or5ac19 C T 16: 59,089,307 (GRCm39) C241Y probably damaging Het
Pcsk1 T C 13: 75,280,238 (GRCm39) S688P probably benign Het
Polr1a T C 6: 71,944,900 (GRCm39) F1319L probably benign Het
Ppig T C 2: 69,579,803 (GRCm39) Y446H unknown Het
Spmap2 G A 10: 79,419,684 (GRCm39) T182M probably damaging Het
Stk17b T C 1: 53,801,758 (GRCm39) T88A probably benign Het
Tas2r143 A T 6: 42,377,199 (GRCm39) I10F probably benign Het
Tmprss12 G A 15: 100,183,081 (GRCm39) R141Q probably benign Het
Trpa1 A G 1: 14,961,527 (GRCm39) probably null Het
Txndc16 A G 14: 45,410,020 (GRCm39) S187P possibly damaging Het
Vmn2r98 T C 17: 19,301,011 (GRCm39) I671T possibly damaging Het
Zfp78 G T 7: 6,381,660 (GRCm39) V237F 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
R1352:Cbln4 UTSW 2 171,879,376 (GRCm39) missense possibly damaging 0.89
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'- AGTATTCCCTTCAGCCCCTGATGAC -3'
(R):5'- CCAGCCGTTCTGCTGATTCTAGTG -3'

Sequencing Primer
(F):5'- GCAGCTCTGAGTTTCAAACTG -3'
(R):5'- TGCTGATTCTAGTGCTGCC -3'
Posted On 2014-01-05