Incidental Mutation 'R4013:Cbln4'
ID 311806
Institutional Source Beutler Lab
Gene Symbol Cbln4
Ensembl Gene ENSMUSG00000067578
Gene Name cerebellin 4 precursor protein
Synonyms
MMRRC Submission 040950-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.210) question?
Stock # R4013 (G1)
Quality Score 225
Status Validated
Chromosome 2
Chromosomal Location 171878256-171885386 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 171879477 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Lysine at position 137 (M137K)
Ref Sequence ENSEMBL: ENSMUSP00000085263 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000087950]
AlphaFold Q8BME9
Predicted Effect probably damaging
Transcript: ENSMUST00000087950
AA Change: M137K

PolyPhen 2 Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000085263
Gene: ENSMUSG00000067578
AA Change: M137K

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 0.7912 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.4%
  • 10x: 96.6%
  • 20x: 92.4%
Validation Efficiency 98% (47/48)
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: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc6 T C 7: 45,668,104 (GRCm39) Q168R probably benign Het
Adgrg3 A G 8: 95,761,727 (GRCm39) probably benign Het
Apold1 A G 6: 134,960,869 (GRCm39) I108V probably benign Het
Atp6v0a2 G A 5: 124,789,860 (GRCm39) V429M probably damaging Het
Cfap57 A G 4: 118,450,340 (GRCm39) V594A probably benign Het
Chd9 A G 8: 91,699,797 (GRCm39) E28G possibly damaging Het
Clip4 T A 17: 72,163,541 (GRCm39) C704* probably null Het
Col8a2 T A 4: 126,204,908 (GRCm39) probably benign Het
Cyp3a59 A G 5: 146,016,193 (GRCm39) T17A probably benign Het
Cyp4f14 G A 17: 33,135,853 (GRCm39) Q3* probably null Het
Cysltr2 A G 14: 73,267,005 (GRCm39) I235T probably damaging Het
Esp34 C A 17: 38,870,446 (GRCm39) C45* probably null Het
Gabrg2 T C 11: 41,862,707 (GRCm39) K126E possibly damaging Het
Gm4846 A C 1: 166,322,249 (GRCm39) probably null Het
Igsf21 T C 4: 139,764,780 (GRCm39) N165S possibly damaging Het
Kcnf1 A G 12: 17,225,994 (GRCm39) F76L probably benign Het
Kcns1 A G 2: 164,010,177 (GRCm39) V194A probably damaging Het
Kdm5a T A 6: 120,371,067 (GRCm39) Y504N probably damaging Het
Kdm5b A G 1: 134,555,067 (GRCm39) Y1325C possibly damaging Het
Kif1a T C 1: 93,004,014 (GRCm39) D156G probably damaging Het
Lrp1b A G 2: 40,692,996 (GRCm39) F3401L possibly damaging Het
Lrrc63 A G 14: 75,335,731 (GRCm39) Y460H probably damaging Het
Myo15b G T 11: 115,762,282 (GRCm39) E1201* probably null Het
Ndor1 A T 2: 25,140,162 (GRCm39) I84K probably damaging Het
Ndst4 T A 3: 125,476,819 (GRCm39) Y15N probably damaging Het
Or51af1 T C 7: 103,141,840 (GRCm39) T82A probably benign Het
Or5ar1 A G 2: 85,671,725 (GRCm39) S137P probably damaging Het
Pik3r6 T A 11: 68,424,347 (GRCm39) D317E possibly damaging Het
Ppp2r1a G A 17: 21,171,609 (GRCm39) R28H probably damaging Het
Ptch1 T G 13: 63,672,773 (GRCm39) E944A probably benign Het
Ptpn12 G A 5: 21,197,741 (GRCm39) P700L probably benign Het
Setx GTGGCT GT 2: 29,044,073 (GRCm39) 1814 probably null Het
Slc39a13 T C 2: 90,895,247 (GRCm39) probably null Het
Smarca2 G A 19: 26,661,327 (GRCm39) probably null Het
Taok1 A T 11: 77,450,659 (GRCm39) L371H possibly damaging Het
Tas2r116 A G 6: 132,833,230 (GRCm39) H277R probably damaging Het
Treml4 G A 17: 48,571,837 (GRCm39) R80Q probably benign Het
Trim9 G A 12: 70,393,126 (GRCm39) H273Y probably damaging Het
Tyr A G 7: 87,087,148 (GRCm39) S455P probably benign Het
Vmn1r214 G A 13: 23,219,520 (GRCm39) C338Y probably benign Het
Vmn2r52 G A 7: 9,904,603 (GRCm39) T412I probably benign Het
Wdr70 A T 15: 8,108,698 (GRCm39) C149* probably null Het
Wdr93 T A 7: 79,418,159 (GRCm39) V294E possibly 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
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
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'- ATCACGGAGAAGTCGGGTTC -3'
(R):5'- CCACATGATTAGATGGCTTTCTGG -3'

Sequencing Primer
(F):5'- TCGGGTTCTATAGAGGAAACACC -3'
(R):5'- TTTCATTGGAAAACATACACACACAG -3'
Posted On 2015-04-29