Incidental Mutation 'PIT4377001:Cib2'
ID 554931
Institutional Source Beutler Lab
Gene Symbol Cib2
Ensembl Gene ENSMUSG00000037493
Gene Name calcium and integrin binding family member 2
Synonyms 2810434I23Rik, calcium binding protein Kip2
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # PIT4377001 (G1)
Quality Score 135.008
Status Not validated
Chromosome 9
Chromosomal Location 54452078-54467502 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to G at 54467271 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Alanine at position 11 (E11A)
Ref Sequence ENSEMBL: ENSMUSP00000038527 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000041901]
AlphaFold Q9Z309
Predicted Effect probably damaging
Transcript: ENSMUST00000041901
AA Change: E11A

PolyPhen 2 Score 0.957 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000038527
Gene: ENSMUSG00000037493
AA Change: E11A

DomainStartEndE-ValueType
EFh 73 98 8.33e1 SMART
EFh 107 135 5.38e0 SMART
EFh 148 176 3.3e-2 SMART
Coding Region Coverage
  • 1x: 92.9%
  • 3x: 90.8%
  • 10x: 85.9%
  • 20x: 75.6%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is similar to that of KIP/CIB, calcineurin B, and calmodulin. The encoded protein is a calcium-binding regulatory protein that interacts with DNA-dependent protein kinase catalytic subunits (DNA-PKcs), and it is involved in photoreceptor cell maintenance. Mutations in this gene cause deafness, autosomal recessive, 48 (DFNB48), and also Usher syndrome 1J (USH1J). Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2014]
Allele List at MGI
Other mutations in this stock
Total: 61 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700009N14Rik T C 4: 39,451,129 (GRCm39) C112R possibly damaging Het
Acadl G A 1: 66,877,564 (GRCm39) T329M probably damaging Het
Adgrv1 A G 13: 81,677,104 (GRCm39) L1909P probably damaging Het
Aff3 A C 1: 38,578,044 (GRCm39) V31G probably damaging Het
Bag3 A G 7: 128,147,441 (GRCm39) D352G probably damaging Het
Bcas3 A T 11: 85,386,668 (GRCm39) T368S probably damaging Het
Bmp3 A G 5: 99,027,608 (GRCm39) I434V unknown Het
Casq1 T A 1: 172,039,568 (GRCm39) T336S probably benign Het
Cttn C A 7: 143,993,833 (GRCm39) E393D possibly damaging Het
Dchs1 G A 7: 105,406,795 (GRCm39) R2237W probably damaging Het
Dclre1a C T 19: 56,532,837 (GRCm39) A586T probably benign Het
Defb1 C A 8: 22,266,716 (GRCm39) Q17K possibly damaging Het
Dgat2 T C 7: 98,806,342 (GRCm39) Y285C probably damaging Het
Dhx57 A T 17: 80,571,404 (GRCm39) F732Y probably damaging Het
Dock2 T G 11: 34,611,835 (GRCm39) D176A probably benign Het
Epha6 A G 16: 60,025,915 (GRCm39) I509T probably damaging Het
Fblim1 C T 4: 141,322,720 (GRCm39) R21H probably damaging Het
Fbxw20 T A 9: 109,050,795 (GRCm39) H371L probably benign Het
Foxa1 T A 12: 57,589,567 (GRCm39) I218F probably damaging Het
Fstl1 A T 16: 37,636,167 (GRCm39) I53F probably benign Het
Gdnf A G 15: 7,864,011 (GRCm39) R141G probably benign Het
Gemin7 G A 7: 19,299,242 (GRCm39) R118* probably null Het
Gm43218 T C 6: 70,217,565 (GRCm39) T64A probably benign Het
Gnat3 G A 5: 18,220,557 (GRCm39) M243I Het
Gramd1a A T 7: 30,843,095 (GRCm39) I71N possibly damaging Het
H4c12 C G 13: 21,934,654 (GRCm39) G8R unknown Het
Htt A T 5: 35,033,309 (GRCm39) D1859V probably benign Het
Hyal1 T C 9: 107,456,468 (GRCm39) F415S probably damaging Het
Ighv1-47 T C 12: 114,954,858 (GRCm39) N74S probably benign Het
Igkv1-131 T C 6: 67,743,192 (GRCm39) R64G probably benign Het
Itgb1 T A 8: 129,436,864 (GRCm39) V95D probably damaging Het
Jak1 A C 4: 101,036,748 (GRCm39) N297K probably benign Het
Kcna4 T A 2: 107,127,205 (GRCm39) N646K possibly damaging Het
Krt42 A G 11: 100,153,931 (GRCm39) S442P probably damaging Het
Mcm3ap G A 10: 76,338,596 (GRCm39) S1408N possibly damaging Het
Mdga2 T A 12: 66,763,469 (GRCm39) Q278L probably damaging Het
Mkln1 C T 6: 31,451,289 (GRCm39) T410M probably damaging Het
Nav3 T C 10: 109,552,466 (GRCm39) E1792G probably damaging Het
Ndrg1 A G 15: 66,820,288 (GRCm39) C49R probably benign Het
Neurl4 A G 11: 69,801,232 (GRCm39) H1201R probably benign Het
Nfasc T C 1: 132,510,804 (GRCm39) Y1073C unknown Het
Nrbp2 A G 15: 75,958,945 (GRCm39) Y253H probably benign Het
Or10c1 T A 17: 37,521,980 (GRCm39) I255F probably benign Het
Or4g16 T A 2: 111,137,225 (GRCm39) V225D probably damaging Het
Or4k45 T C 2: 111,395,556 (GRCm39) T78A probably damaging Het
Pcsk5 A T 19: 17,416,466 (GRCm39) C1661S probably damaging Het
Qsox2 T G 2: 26,110,924 (GRCm39) D147A probably damaging Het
Siglec15 T A 18: 78,100,590 (GRCm39) probably benign Het
Skint5 T A 4: 113,454,900 (GRCm39) T1011S unknown Het
Slc9a2 A G 1: 40,783,001 (GRCm39) T422A probably damaging Het
Tert C T 13: 73,776,380 (GRCm39) T377I possibly damaging Het
Tex15 T A 8: 34,061,129 (GRCm39) S186R probably damaging Het
Tgfb1 A G 7: 25,396,343 (GRCm39) D212G probably benign Het
Tnc T G 4: 63,935,973 (GRCm39) D321A probably damaging Het
Topbp1 G A 9: 103,187,088 (GRCm39) E98K possibly damaging Het
Ugp2 C A 11: 21,320,203 (GRCm39) M1I probably null Het
Vipr2 G A 12: 116,058,418 (GRCm39) D112N probably benign Het
Vps13a T C 19: 16,718,265 (GRCm39) E485G probably damaging Het
Vps37a T A 8: 40,990,087 (GRCm39) I198N possibly damaging Het
Zbtb9 T C 17: 27,193,735 (GRCm39) V380A probably damaging Het
Zfhx4 G C 3: 5,307,802 (GRCm39) V343L probably damaging Het
Other mutations in Cib2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01780:Cib2 APN 9 54,457,170 (GRCm39) missense probably damaging 0.97
IGL01868:Cib2 APN 9 54,455,759 (GRCm39) missense probably damaging 0.98
IGL02350:Cib2 APN 9 54,457,170 (GRCm39) missense probably damaging 0.97
IGL02357:Cib2 APN 9 54,457,170 (GRCm39) missense probably damaging 0.97
IGL02656:Cib2 APN 9 54,453,182 (GRCm39) missense probably damaging 1.00
R0617:Cib2 UTSW 9 54,461,780 (GRCm39) missense possibly damaging 0.71
R1670:Cib2 UTSW 9 54,455,653 (GRCm39) missense probably damaging 1.00
R2409:Cib2 UTSW 9 54,452,751 (GRCm39) splice site probably null
R4790:Cib2 UTSW 9 54,457,087 (GRCm39) splice site probably null
R4910:Cib2 UTSW 9 54,457,163 (GRCm39) missense probably benign 0.34
R6823:Cib2 UTSW 9 54,457,175 (GRCm39) missense possibly damaging 0.89
Predicted Primers PCR Primer
(F):5'- GGAAACTGAGGCTCGTCAAG -3'
(R):5'- ATAGACTGAGCAGGCCTCTG -3'

Sequencing Primer
(F):5'- CTCGTCAAGGGGAAGTCATC -3'
(R):5'- TCTCCAGGGAGAAGTCACCTCTC -3'
Posted On 2019-06-07