Incidental Mutation 'R0617:Cib2'
ID 58440
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
MMRRC Submission 038806-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R0617 (G1)
Quality Score 158
Status Validated
Chromosome 9
Chromosomal Location 54452078-54467502 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 54461780 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 26 (D26G)
Ref Sequence ENSEMBL: ENSMUSP00000038527 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000041901]
AlphaFold Q9Z309
Predicted Effect possibly damaging
Transcript: ENSMUST00000041901
AA Change: D26G

PolyPhen 2 Score 0.708 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000038527
Gene: ENSMUSG00000037493
AA Change: D26G

EFh 73 98 8.33e1 SMART
EFh 107 135 5.38e0 SMART
EFh 148 176 3.3e-2 SMART
Meta Mutation Damage Score 0.4521 question?
Coding Region Coverage
  • 1x: 99.4%
  • 3x: 98.9%
  • 10x: 97.6%
  • 20x: 95.5%
Validation Efficiency 98% (130/133)
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: 130 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930555F03Rik A T 8: 49,953,527 (GRCm39) noncoding transcript Het
A630073D07Rik T C 6: 132,603,700 (GRCm39) probably benign Het
Abca16 G A 7: 120,032,834 (GRCm39) probably benign Het
Abca5 A T 11: 110,170,515 (GRCm39) D1265E probably damaging Het
Abcf1 C T 17: 36,272,079 (GRCm39) V312I probably benign Het
Abhd12 T A 2: 150,688,285 (GRCm39) probably null Het
Adam23 A G 1: 63,582,306 (GRCm39) H318R probably benign Het
Adcy2 T A 13: 68,826,725 (GRCm39) K660* probably null Het
Adgrf3 T C 5: 30,400,078 (GRCm39) T972A probably benign Het
Adipoq T A 16: 22,974,160 (GRCm39) D62E probably damaging Het
Alk G T 17: 72,910,578 (GRCm39) P43T probably damaging Het
Arap2 AT ATT 5: 62,807,250 (GRCm39) probably benign Het
Arhgef28 G T 13: 98,106,863 (GRCm39) T687K probably benign Het
Arrb1 T C 7: 99,243,884 (GRCm39) L278P probably damaging Het
Atad2b C A 12: 4,987,401 (GRCm39) D76E probably benign Het
Atm A T 9: 53,370,241 (GRCm39) Y2290* probably null Het
Atrn T A 2: 130,837,005 (GRCm39) probably null Het
Bpifb1 A G 2: 154,054,867 (GRCm39) D253G possibly damaging Het
Bpifb9b C T 2: 154,161,545 (GRCm39) T559M probably benign Het
Bsn T C 9: 107,984,439 (GRCm39) E3205G unknown Het
Cacna1c T C 6: 118,579,174 (GRCm39) Y1599C probably damaging Het
Ccdc40 A G 11: 119,133,630 (GRCm39) D590G probably damaging Het
Ccdc68 A G 18: 70,079,623 (GRCm39) probably null Het
Ccdc97 G A 7: 25,413,845 (GRCm39) R279C probably damaging Het
Ccm2l A G 2: 152,912,820 (GRCm39) T120A probably damaging Het
Cfap54 T C 10: 92,665,512 (GRCm39) probably benign Het
Cfh A G 1: 140,028,621 (GRCm39) S1043P probably benign Het
Chil3 T C 3: 106,063,072 (GRCm39) K173E probably benign Het
Col24a1 T C 3: 145,019,881 (GRCm39) V84A probably damaging Het
Csn3 T C 5: 88,077,730 (GRCm39) Y79H probably benign Het
Ddx47 T A 6: 134,994,085 (GRCm39) V149E probably damaging Het
Dennd5b A T 6: 148,934,760 (GRCm39) probably benign Het
Desi1 T C 15: 81,882,399 (GRCm39) N109D probably damaging Het
Fam13c T C 10: 70,372,182 (GRCm39) probably benign Het
Fam234a A T 17: 26,435,591 (GRCm39) D264E probably benign Het
Fanca A G 8: 124,014,809 (GRCm39) F831S probably damaging Het
Fancm C T 12: 65,144,091 (GRCm39) R518* probably null Het
Fat2 A G 11: 55,202,669 (GRCm39) V135A possibly damaging Het
Fbxl17 A C 17: 63,691,987 (GRCm39) F42V probably damaging Het
Fgd3 A T 13: 49,418,173 (GRCm39) V631E possibly damaging Het
Fhod3 G A 18: 25,245,736 (GRCm39) probably benign Het
Focad T C 4: 88,039,525 (GRCm39) probably benign Het
Foxn4 C A 5: 114,399,129 (GRCm39) probably benign Het
Gm2381 A T 7: 42,469,402 (GRCm39) C241S probably damaging Het
Gm6483 T G 8: 19,743,725 (GRCm39) F117V probably damaging Het
Hectd4 T C 5: 121,481,295 (GRCm39) probably benign Het
Hecw1 T A 13: 14,455,027 (GRCm39) Q676L probably benign Het
Hipk2 G A 6: 38,724,420 (GRCm39) R437C possibly damaging Het
Ifnar1 T C 16: 91,298,570 (GRCm39) Y396H probably damaging Het
Ints5 A T 19: 8,873,383 (GRCm39) K447N probably damaging Het
Iqsec1 T C 6: 90,666,952 (GRCm39) Y495C probably damaging Het
Itga5 C T 15: 103,264,742 (GRCm39) probably null Het
Kcnk4 T A 19: 6,905,528 (GRCm39) probably benign Het
Kmo A G 1: 175,474,756 (GRCm39) T174A possibly damaging Het
Krt36 T C 11: 99,993,101 (GRCm39) D458G probably damaging Het
Krtap16-1 G T 11: 99,877,321 (GRCm39) P28T probably damaging Het
Lama3 T C 18: 12,552,315 (GRCm39) probably null Het
Lrrc9 T C 12: 72,529,788 (GRCm39) S920P probably damaging Het
Lrrk2 A T 15: 91,636,481 (GRCm39) Y1485F probably benign Het
Mical1 C T 10: 41,357,311 (GRCm39) A372V probably damaging Het
Ms4a20 C A 19: 11,089,764 (GRCm39) L40F probably damaging Het
Mtr C T 13: 12,236,318 (GRCm39) R636Q probably benign Het
Muc4 A T 16: 32,570,925 (GRCm39) T662S possibly damaging Het
Myo10 G A 15: 25,738,091 (GRCm39) V546M probably damaging Het
Nbeal1 G A 1: 60,320,991 (GRCm39) W2034* probably null Het
Nhlrc3 T C 3: 53,366,044 (GRCm39) T150A probably damaging Het
Nicol1 T C 5: 34,140,896 (GRCm39) probably benign Het
Nkx2-1 T C 12: 56,581,640 (GRCm39) H69R possibly damaging Het
Nlrp4g A T 9: 124,349,540 (GRCm38) noncoding transcript Het
Nod2 A G 8: 89,379,859 (GRCm39) N120S probably benign Het
Nol8 T C 13: 49,807,921 (GRCm39) F46L possibly damaging Het
Ntrk1 T C 3: 87,691,240 (GRCm39) D308G possibly damaging Het
Oog3 A T 4: 143,886,784 (GRCm39) V112D probably benign Het
Or10ag58 A G 2: 87,265,005 (GRCm39) D58G probably damaging Het
Or4a66 A G 2: 88,531,040 (GRCm39) V211A probably damaging Het
Or51i1 A T 7: 103,671,196 (GRCm39) S110T probably damaging Het
Or5af2 T C 11: 58,707,975 (GRCm39) V47A probably damaging Het
Or5b106 T C 19: 13,123,727 (GRCm39) M99V probably benign Het
Or5b120 C A 19: 13,479,900 (GRCm39) N64K probably damaging Het
Or5m9b A G 2: 85,905,485 (GRCm39) M134V probably benign Het
Or9s18 A T 13: 65,300,692 (GRCm39) Y218F possibly damaging Het
Pakap T C 4: 57,829,434 (GRCm39) probably benign Het
Pcdhb8 C T 18: 37,490,100 (GRCm39) R593C probably benign Het
Pgm3 A G 9: 86,438,243 (GRCm39) probably null Het
Pirt T A 11: 66,816,998 (GRCm39) V103E probably damaging Het
Plxnc1 T A 10: 94,635,230 (GRCm39) D1332V probably damaging Het
Ppfia4 A T 1: 134,256,518 (GRCm39) V122E probably damaging Het
Pramel14 A G 4: 143,720,088 (GRCm39) probably benign Het
Prmt2 C T 10: 76,044,517 (GRCm39) probably benign Het
Prrc2a G T 17: 35,372,536 (GRCm39) P1702T probably damaging Het
Prss39 A T 1: 34,539,279 (GRCm39) H173L probably damaging Het
Rabl6 A G 2: 25,476,878 (GRCm39) probably null Het
Rb1cc1 T A 1: 6,319,014 (GRCm39) I794K possibly damaging Het
Reln T C 5: 22,125,535 (GRCm39) D2716G probably damaging Het
Sbf2 ACC AC 7: 109,929,890 (GRCm39) probably null Het
Sema6d T A 2: 124,502,665 (GRCm39) F583L possibly damaging Het
Setx T A 2: 29,036,819 (GRCm39) H1101Q possibly damaging Het
Sis A G 3: 72,872,938 (GRCm39) C67R probably damaging Het
Skint1 T A 4: 111,886,596 (GRCm39) probably benign Het
Smg6 C A 11: 75,053,757 (GRCm39) T1413K probably benign Het
Spata31d1a A T 13: 59,850,073 (GRCm39) I685N possibly damaging Het
Spef2 T A 15: 9,592,844 (GRCm39) N1499I probably damaging Het
Stk11ip T A 1: 75,508,932 (GRCm39) probably null Het
Stxbp1 A C 2: 32,692,795 (GRCm39) I407S probably damaging Het
Svil T C 18: 5,117,002 (GRCm39) S2059P probably damaging Het
Syne1 C T 10: 5,300,933 (GRCm39) V932M probably damaging Het
Tacc1 A C 8: 25,668,020 (GRCm39) probably benign Het
Tbc1d13 C A 2: 30,025,576 (GRCm39) probably benign Het
Tbc1d15 A C 10: 115,075,204 (GRCm39) D59E probably damaging Het
Tcaf2 A G 6: 42,619,445 (GRCm39) F194S probably damaging Het
Terf2ip T A 8: 112,738,127 (GRCm39) M5K probably benign Het
Tgfbr2 A T 9: 115,987,388 (GRCm39) D40E probably benign Het
Tm4sf5 T A 11: 70,401,495 (GRCm39) S165T probably damaging Het
Tmprss3 A T 17: 31,412,886 (GRCm39) C129S probably damaging Het
Tmx2 T C 2: 84,502,740 (GRCm39) D256G probably benign Het
Tnr A G 1: 159,695,673 (GRCm39) D532G probably damaging Het
Tnrc18 T A 5: 142,762,494 (GRCm39) H465L unknown Het
Togaram2 A T 17: 72,007,504 (GRCm39) Q350L possibly damaging Het
Topaz1 G A 9: 122,578,971 (GRCm39) C627Y possibly damaging Het
Tpx2 A T 2: 152,715,058 (GRCm39) Q93L probably benign Het
Trim54 T C 5: 31,293,526 (GRCm39) probably null Het
Troap T A 15: 98,980,541 (GRCm39) C574S probably damaging Het
Tut7 A T 13: 59,964,669 (GRCm39) probably null Het
Ubr4 T C 4: 139,206,373 (GRCm39) probably null Het
Vmn2r51 A G 7: 9,834,396 (GRCm39) V214A possibly damaging Het
Vmn2r66 A T 7: 84,644,484 (GRCm39) M642K probably benign Het
Vwa5a T A 9: 38,635,191 (GRCm39) I232N probably damaging Het
Zfp820 A T 17: 22,038,685 (GRCm39) S214R probably damaging Het
Zfp955b A T 17: 33,524,437 (GRCm39) S43R probably damaging Het
Zgrf1 C T 3: 127,381,687 (GRCm39) T1162M probably benign 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
PIT4377001:Cib2 UTSW 9 54,467,271 (GRCm39) missense probably damaging 0.96
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

Sequencing Primer
Posted On 2013-07-11