Incidental Mutation 'R7257:Cbln2'
ID 564379
Institutional Source Beutler Lab
Gene Symbol Cbln2
Ensembl Gene ENSMUSG00000024647
Gene Name cerebellin 2 precursor protein
Synonyms 6330593N19Rik
MMRRC Submission 045318-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.109) question?
Stock # R7257 (G1)
Quality Score 225.009
Status Validated
Chromosome 18
Chromosomal Location 86729235-86736408 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 86734859 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tryptophan to Arginine at position 211 (W211R)
Ref Sequence ENSEMBL: ENSMUSP00000068863 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000068423] [ENSMUST00000122079] [ENSMUST00000122464] [ENSMUST00000169470]
AlphaFold Q8BGU2
Predicted Effect probably damaging
Transcript: ENSMUST00000068423
AA Change: W211R

PolyPhen 2 Score 0.978 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000068863
Gene: ENSMUSG00000024647
AA Change: W211R

DomainStartEndE-ValueType
signal peptide 1 51 N/A INTRINSIC
C1Q 86 224 4.65e-61 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000122079
AA Change: W211R

PolyPhen 2 Score 0.978 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000113695
Gene: ENSMUSG00000024647
AA Change: W211R

DomainStartEndE-ValueType
signal peptide 1 51 N/A INTRINSIC
C1Q 86 224 4.65e-61 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000122464
AA Change: W211R

PolyPhen 2 Score 0.978 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000113996
Gene: ENSMUSG00000024647
AA Change: W211R

DomainStartEndE-ValueType
signal peptide 1 51 N/A INTRINSIC
C1Q 86 224 4.65e-61 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000169470
AA Change: W211R

PolyPhen 2 Score 0.978 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000126810
Gene: ENSMUSG00000024647
AA Change: W211R

DomainStartEndE-ValueType
signal peptide 1 51 N/A INTRINSIC
C1Q 86 224 4.65e-61 SMART
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.0%
Validation Efficiency 100% (77/77)
MGI Phenotype FUNCTION: The protein encoded by this gene belongs to a family of secreted neuronal glycoproteins. The transcript is broadly expressed in the embryonic and adult brain with higher levels in some regions including the olfactory bulb, thalamus, and cerebral cortex. The protein can bind to presynaptic neurexins and induce synaptogenesis in cultured neurons. Null mutant mice are viable, fertile and do not display obvious neuroanatomical defects. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2014]
PHENOTYPE: No overt anatomical or neuroanatomical defects are observed in mice homozygous for deletion of this gene. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 77 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abtb1 A T 6: 88,816,434 (GRCm39) V120E probably benign Het
Acot11 G A 4: 106,615,599 (GRCm39) T284M probably damaging Het
Adk G T 14: 21,102,739 (GRCm39) K11N probably damaging Het
Akr1c14 T A 13: 4,138,966 (GRCm39) N316K probably benign Het
AL732309.1 A T 2: 25,135,851 (GRCm39) V121D probably benign Het
Amh C A 10: 80,642,487 (GRCm39) Q257K probably benign Het
Antxrl T G 14: 33,787,806 (GRCm39) H276Q probably benign Het
Atp5po G A 16: 91,723,755 (GRCm39) T105M probably damaging Het
Atxn2 T G 5: 121,923,880 (GRCm39) N734K possibly damaging Het
B3gat3 T A 19: 8,903,102 (GRCm39) V153D probably benign Het
Brd2 A G 17: 34,332,796 (GRCm39) V528A probably damaging Het
Camk2g T C 14: 20,797,907 (GRCm39) S335G probably benign Het
Cry2 A T 2: 92,243,326 (GRCm39) I505N possibly damaging Het
Ddx55 T A 5: 124,698,784 (GRCm39) C249S possibly damaging Het
Dglucy A G 12: 100,808,997 (GRCm39) T232A probably damaging Het
Dhx32 A G 7: 133,361,206 (GRCm39) Y76H probably benign Het
Dmac2l T C 12: 69,788,443 (GRCm39) I114T probably damaging Het
Dock7 T A 4: 98,861,649 (GRCm39) N1356I unknown Het
Dock8 T A 19: 25,104,449 (GRCm39) N710K probably benign Het
Dync1i2 T A 2: 71,079,700 (GRCm39) N391K possibly damaging Het
Ect2 A G 3: 27,192,684 (GRCm39) S420P probably damaging Het
Efcab5 T A 11: 77,028,605 (GRCm39) E242V probably damaging Het
Fam83g T A 11: 61,575,579 (GRCm39) Y74N probably damaging Het
Fbxo34 T A 14: 47,738,329 (GRCm39) probably null Het
Flt4 A G 11: 49,516,836 (GRCm39) T208A probably benign Het
Fxyd5 T A 7: 30,734,576 (GRCm39) H183L unknown Het
Gpr150 T G 13: 76,204,585 (GRCm39) D120A probably benign Het
Grm7 A G 6: 110,623,079 (GRCm39) Y84C probably damaging Het
Ighmbp2 A G 19: 3,316,405 (GRCm39) S562P probably damaging Het
Itga7 A G 10: 128,780,282 (GRCm39) Y530C possibly damaging Het
Itpr3 T A 17: 27,337,535 (GRCm39) D2448E probably benign Het
Mmp17 C A 5: 129,672,697 (GRCm39) H216Q probably benign Het
Mns1 C T 9: 72,360,097 (GRCm39) R416W probably damaging Het
Mog A G 17: 37,334,019 (GRCm39) S25P unknown Het
Myh2 A G 11: 67,071,976 (GRCm39) K568R possibly damaging Het
Myh7 A T 14: 55,209,947 (GRCm39) probably null Het
Mymk A T 2: 26,957,380 (GRCm39) W79R probably damaging Het
Ncoa4 T G 14: 31,899,326 (GRCm39) L623R probably damaging Het
Oca2 G A 7: 55,929,286 (GRCm39) probably benign Het
Odam A C 5: 88,035,404 (GRCm39) S123R probably benign Het
Or14c39 T A 7: 86,344,012 (GRCm39) M116K probably damaging Het
Or2w1 A G 13: 21,317,427 (GRCm39) T161A probably benign Het
Or51f1d T C 7: 102,700,837 (GRCm39) F111L probably benign Het
Or5d16 A G 2: 87,773,915 (GRCm39) F19S probably damaging Het
Or6c69 T A 10: 129,748,156 (GRCm39) probably benign Het
Or6c8b C T 10: 128,882,324 (GRCm39) V203M probably benign Het
Ovch2 C T 7: 107,393,640 (GRCm39) C162Y probably damaging Het
Padi1 C A 4: 140,556,782 (GRCm39) G142C probably damaging Het
Pcdhga4 A G 18: 37,820,451 (GRCm39) I667V probably damaging Het
Pfas A T 11: 68,883,785 (GRCm39) V624E probably damaging Het
Phb1 A T 11: 95,568,917 (GRCm39) E184V probably damaging Het
Phlpp2 G T 8: 110,666,820 (GRCm39) M1116I probably benign Het
Pip5kl1 T C 2: 32,470,443 (GRCm39) probably null Het
Pitpnm2 T A 5: 124,263,419 (GRCm39) I824F possibly damaging Het
Pla2g4c G A 7: 13,059,669 (GRCm39) S2N possibly damaging Het
Pla2r1 A T 2: 60,257,969 (GRCm39) probably null Het
Pole2 T C 12: 69,249,684 (GRCm39) D521G probably damaging Het
Ptch1 T C 13: 63,721,108 (GRCm39) K54E not run Het
Rapgef2 A T 3: 78,989,934 (GRCm39) L931Q probably damaging Het
Rassf3 G A 10: 121,248,924 (GRCm39) Q206* probably null Het
Rnf123 T A 9: 107,946,228 (GRCm39) T316S probably damaging Het
Rnf138 T A 18: 21,141,750 (GRCm39) probably null Het
Septin3 G A 15: 82,173,414 (GRCm39) A249T probably damaging Het
Slc35a4 A T 18: 36,812,669 (GRCm39) D3V unknown Het
Sltm T A 9: 70,451,247 (GRCm39) probably null Het
Smarca2 C T 19: 26,631,864 (GRCm39) Q560* probably null Het
Tcl1b1 A T 12: 105,130,790 (GRCm39) D91V probably damaging Het
Tirap A T 9: 35,100,330 (GRCm39) V118E probably damaging Het
Tlr5 T A 1: 182,801,798 (GRCm39) Y367* probably null Het
Tmcc1 A G 6: 116,084,299 (GRCm39) F5L probably benign Het
Tnxb A G 17: 34,935,475 (GRCm39) M2592V probably benign Het
Trim66 T A 7: 109,059,451 (GRCm39) E931V probably damaging Het
Ttn A G 2: 76,571,438 (GRCm39) I26485T probably damaging Het
Veph1 C A 3: 66,065,703 (GRCm39) V455L probably benign Het
Vmn1r125 A T 7: 21,006,750 (GRCm39) H216L probably damaging Het
Wdr17 T A 8: 55,085,522 (GRCm39) E1200D probably benign Het
Zbtb37 T A 1: 160,860,231 (GRCm39) N25Y probably damaging Het
Other mutations in Cbln2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00157:Cbln2 APN 18 86,734,509 (GRCm39) nonsense probably null
IGL01942:Cbln2 APN 18 86,734,450 (GRCm39) missense probably benign 0.44
IGL02369:Cbln2 APN 18 86,731,479 (GRCm39) missense probably damaging 1.00
IGL02983:Cbln2 APN 18 86,731,504 (GRCm39) missense probably benign 0.07
R0899:Cbln2 UTSW 18 86,734,877 (GRCm39) missense possibly damaging 0.91
R1778:Cbln2 UTSW 18 86,731,272 (GRCm39) missense probably benign 0.11
R2004:Cbln2 UTSW 18 86,734,791 (GRCm39) missense probably damaging 0.99
R5571:Cbln2 UTSW 18 86,731,273 (GRCm39) missense probably benign
R7136:Cbln2 UTSW 18 86,734,797 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- GAGTCTTCTGCCTTATAGGTCAGC -3'
(R):5'- GGTTCCCGAGGAATTGTCAATAG -3'

Sequencing Primer
(F):5'- GTCAGCTTAATGCAGAATGGCTACC -3'
(R):5'- TCCCGAGGAATTGTCAATAGTCAAAG -3'
Posted On 2019-06-26