Incidental Mutation 'R9246:Cbln1'
ID 701302
Institutional Source Beutler Lab
Gene Symbol Cbln1
Ensembl Gene ENSMUSG00000031654
Gene Name cerebellin 1 precursor protein
Synonyms
MMRRC Submission
Accession Numbers
Essential gene? Probably non essential (E-score: 0.158) question?
Stock # R9246 (G1)
Quality Score 225.009
Status Not validated
Chromosome 8
Chromosomal Location 88195481-88199220 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 88197048 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Asparagine at position 139 (I139N)
Ref Sequence ENSEMBL: ENSMUSP00000034076 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034076] [ENSMUST00000169693]
AlphaFold Q9R171
Predicted Effect probably damaging
Transcript: ENSMUST00000034076
AA Change: I139N

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000034076
Gene: ENSMUSG00000031654
AA Change: I139N

DomainStartEndE-ValueType
signal peptide 1 21 N/A INTRINSIC
C1Q 55 193 6.52e-65 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000169693
AA Change: I139N

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000126575
Gene: ENSMUSG00000031654
AA Change: I139N

DomainStartEndE-ValueType
signal peptide 1 21 N/A INTRINSIC
C1Q 55 193 6.52e-65 SMART
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 98.9%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a cerebellum-specific precursor protein, precerebellin, with similarity to the globular (non-collagen-like) domain of complement component C1qB. Precerebellin is processed to give rise to several derivatives, including the hexadecapeptide, cerebellin, which is highly enriched in postsynaptic structures of Purkinje cells. Cerebellin has also been found in human and rat adrenals, where it has been shown to enhance the secretory activity of this gland. [provided by RefSeq, Aug 2008]
PHENOTYPE: Homozygous mutation of this gene results in ataxia, impaired coordination, and abnormal Purkinje cell excitatory postsynaptic currents and innervation. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 70 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2310022A10Rik C T 7: 27,279,961 (GRCm39) T314I probably benign Het
Abca7 G A 10: 79,838,535 (GRCm39) S603N probably damaging Het
Abcc2 T C 19: 43,786,882 (GRCm39) F168L probably benign Het
Abcc8 T C 7: 45,774,289 (GRCm39) T764A probably benign Het
Acot4 A C 12: 84,090,097 (GRCm39) I265L probably benign Het
Adrb2 C A 18: 62,312,226 (GRCm39) A200S probably damaging Het
Atp2c2 G T 8: 120,456,989 (GRCm39) R197L probably damaging Het
Bmpr1a T C 14: 34,156,664 (GRCm39) T121A probably benign Het
Brwd1 A T 16: 95,804,016 (GRCm39) S2051R probably benign Het
Card10 T C 15: 78,673,036 (GRCm39) E547G possibly damaging Het
Ccdc86 CCTCTGGCTGAGGTCCGGGAGACGGAAGGCTCAGTGGTGGACAGGGCGATCCGGGGCTCGTCTCTGGCTGAGGTCCGGGAGACGGAAGGCTCAGTGGTGGACAGGGCGATCCGGGGCTCGTCTCCGGCTGAGGTCCGGGAGACGGAAGGCTCAGTGGTGGACAGGGCGATCCGGGGCTCGTCTCCGGCTGAGGTCCGGGAGACGGAAGGCTCAGTGGTGGACAGGGCGATCCGGGGCTCGTCTCCGGCTGAGGTCCGGGAGACGGAAGGCTCAGTGGTGGA CCTCTGGCTGAGGTCCGGGAGACGGAAGGCTCAGTGGTGGACAGGGCGATCCGGGGCTCGTCTCCGGCTGAGGTCCGGGAGACGGAAGGCTCAGTGGTGGACAGGGCGATCCGGGGCTCGTCTCCGGCTGAGGTCCGGGAGACGGAAGGCTCAGTGGTGGACAGGGCGATCCGGGGCTCGTCTCCGGCTGAGGTCCGGGAGACGGAAGGCTCAGTGGTGGA 19: 10,926,162 (GRCm39) probably benign Het
Cdh16 C T 8: 105,344,602 (GRCm39) D510N probably benign Het
Cdh2 G A 18: 16,781,654 (GRCm39) Q146* probably null Het
Cdhr1 T G 14: 36,801,654 (GRCm39) K763T possibly damaging Het
Cfl1 G C 19: 5,543,634 (GRCm39) G204R probably damaging Het
Clcn6 A T 4: 148,113,866 (GRCm39) V64E probably benign Het
Col4a4 G A 1: 82,430,956 (GRCm39) P1649S unknown Het
Ctnna1 T A 18: 35,356,562 (GRCm39) N410K probably benign Het
Dhx34 A G 7: 15,937,162 (GRCm39) F845S probably damaging Het
Dnah7c T G 1: 46,571,934 (GRCm39) N802K possibly damaging Het
Dnmt3a T C 12: 3,949,204 (GRCm39) S492P probably damaging Het
Fhit C A 14: 10,421,494 (GRCm38) probably null Het
Fzd2 A T 11: 102,496,749 (GRCm39) I398F possibly damaging Het
Gm9195 A G 14: 72,710,314 (GRCm39) S457P probably benign Het
Gnao1 A G 8: 94,676,967 (GRCm39) K211E Het
Gzme T C 14: 56,356,198 (GRCm39) D100G probably benign Het
Hook3 T C 8: 26,562,319 (GRCm39) T249A probably benign Het
Hoxd4 G A 2: 74,558,747 (GRCm39) C190Y possibly damaging Het
Hr T A 14: 70,808,915 (GRCm39) V1097E probably damaging Het
Iqca1l T G 5: 24,753,969 (GRCm39) E430A probably benign Het
Kdm3b A T 18: 34,941,480 (GRCm39) K524* probably null Het
Kif18a A G 2: 109,163,819 (GRCm39) T723A probably benign Het
Kif1a A G 1: 93,005,501 (GRCm39) V91A probably damaging Het
Krtap19-2 AAAGCCTCCAAAGCCTCCATAGCCAGAGCCATATCCGAAGCCTCCA AAAGCCTCCA 16: 88,670,859 (GRCm39) probably benign Het
Lama3 G A 18: 12,710,959 (GRCm39) V1559M probably damaging Het
Maco1 A G 4: 134,565,242 (GRCm39) V47A possibly damaging Het
Msto1 A T 3: 88,819,411 (GRCm39) I160N probably damaging Het
Muc5ac C A 7: 141,364,215 (GRCm39) Q2509K probably benign Het
Nicn1 C T 9: 108,171,708 (GRCm39) R163C possibly damaging Het
Nos1 G C 5: 118,017,402 (GRCm39) R255P probably benign Het
Nup98 C A 7: 101,788,037 (GRCm39) R1011L probably benign Het
Or1ad8 T A 11: 50,897,891 (GRCm39) F31I probably damaging Het
Or2ag2b C T 7: 106,417,938 (GRCm39) T216I probably benign Het
Or52ad1 C T 7: 102,995,908 (GRCm39) V76I probably damaging Het
Or7e170 T C 9: 19,795,686 (GRCm39) probably benign Het
Or8k21 A T 2: 86,145,222 (GRCm39) M136K probably damaging Het
Pik3c3 C A 18: 30,466,364 (GRCm39) A805D probably damaging Het
Pnn A G 12: 59,116,929 (GRCm39) Q167R probably damaging Het
Pogk G T 1: 166,226,380 (GRCm39) H590Q probably damaging Het
Prkcd A G 14: 30,327,432 (GRCm39) L251P probably damaging Het
Prrc1 T A 18: 57,496,208 (GRCm39) V53E probably benign Het
Ripor1 T C 8: 106,345,522 (GRCm39) F856S unknown Het
Rnf31 G A 14: 55,833,698 (GRCm39) A569T probably benign Het
Robo1 T A 16: 72,769,178 (GRCm39) D532E probably benign Het
Sh2d6 T A 6: 72,497,594 (GRCm39) K3* probably null Het
Slc22a27 T C 19: 7,874,209 (GRCm39) T289A probably benign Het
Speg T C 1: 75,361,498 (GRCm39) S171P probably damaging Het
Stag1 T A 9: 100,770,329 (GRCm39) F622I probably benign Het
Stxbp1 T C 2: 32,679,586 (GRCm39) D589G possibly damaging Het
Syne1 T C 10: 5,255,706 (GRCm39) I2391M probably benign Het
Sytl2 A G 7: 90,007,384 (GRCm39) M49V probably benign Het
Tmem185b T C 1: 119,454,368 (GRCm39) V43A probably damaging Het
Trappc8 A T 18: 20,993,590 (GRCm39) M499K possibly damaging Het
Vmn1r172 T A 7: 23,359,593 (GRCm39) S159R possibly damaging Het
Vmn1r62 A G 7: 5,678,628 (GRCm39) Y103C probably damaging Het
Vmn1r65 C T 7: 6,011,769 (GRCm39) C155Y possibly damaging Het
Vmn2r112 G A 17: 22,824,088 (GRCm39) V448I probably benign Het
Zfp592 A T 7: 80,691,529 (GRCm39) D1236V probably benign Het
Zfp827 T C 8: 79,803,132 (GRCm39) V568A possibly damaging Het
Zscan4-ps3 A T 7: 11,346,320 (GRCm39) I147F probably damaging Het
Other mutations in Cbln1
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0201:Cbln1 UTSW 8 88,198,741 (GRCm39) missense probably benign 0.09
R5496:Cbln1 UTSW 8 88,198,324 (GRCm39) missense possibly damaging 0.73
R6786:Cbln1 UTSW 8 88,198,657 (GRCm39) missense probably benign 0.30
R7561:Cbln1 UTSW 8 88,198,624 (GRCm39) missense probably benign 0.00
R7638:Cbln1 UTSW 8 88,198,357 (GRCm39) missense probably damaging 1.00
R7848:Cbln1 UTSW 8 88,198,328 (GRCm39) missense probably damaging 1.00
R7908:Cbln1 UTSW 8 88,198,724 (GRCm39) missense probably benign 0.00
R8474:Cbln1 UTSW 8 88,198,673 (GRCm39) missense possibly damaging 0.87
R8682:Cbln1 UTSW 8 88,198,735 (GRCm39) missense possibly damaging 0.69
R8826:Cbln1 UTSW 8 88,198,420 (GRCm39) missense probably benign
Predicted Primers PCR Primer
(F):5'- TCGCCCTGGTAATTTTCGG -3'
(R):5'- TTAGAGCCTCCACAGTGAGCAG -3'

Sequencing Primer
(F):5'- ATTCCCGATACGTGCCAGTCAG -3'
(R):5'- TCCACAGTGAGCAGCCAAG -3'
Posted On 2022-03-25