Incidental Mutation 'R1670:Cib2'
ID187557
Institutional Source Beutler Lab
Gene Symbol Cib2
Ensembl Gene ENSMUSG00000037493
Gene Namecalcium and integrin binding family member 2
Synonymscalcium binding protein Kip2, 2810434I23Rik
MMRRC Submission 039706-MU
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.104) question?
Stock #R1670 (G1)
Quality Score225
Status Validated
Chromosome9
Chromosomal Location54544794-54560218 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to A at 54548369 bp
ZygosityHeterozygous
Amino Acid Change Arginine to Tryptophan at position 104 (R104W)
Ref Sequence ENSEMBL: ENSMUSP00000038527 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000041901] [ENSMUST00000060242] [ENSMUST00000118413]
Predicted Effect probably damaging
Transcript: ENSMUST00000041901
AA Change: R104W

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000038527
Gene: ENSMUSG00000037493
AA Change: R104W

DomainStartEndE-ValueType
EFh 73 98 8.33e1 SMART
EFh 107 135 5.38e0 SMART
EFh 148 176 3.3e-2 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000060242
SMART Domains Protein: ENSMUSP00000053690
Gene: ENSMUSG00000046460

DomainStartEndE-ValueType
Blast:SH2 1 51 7e-6 BLAST
low complexity region 165 176 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000118413
SMART Domains Protein: ENSMUSP00000113298
Gene: ENSMUSG00000046460

DomainStartEndE-ValueType
Blast:SH2 1 51 7e-6 BLAST
low complexity region 165 176 N/A INTRINSIC
Meta Mutation Damage Score 0.028 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.3%
  • 10x: 96.3%
  • 20x: 92.3%
Validation Efficiency 97% (74/76)
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: 74 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930402H24Rik G A 2: 130,712,379 P187S probably damaging Het
Abcc9 A G 6: 142,594,722 V1497A possibly damaging Het
Adam15 T C 3: 89,348,510 probably benign Het
Angel2 T A 1: 190,942,163 S371T probably benign Het
Atr T A 9: 95,861,456 N49K probably benign Het
Bace2 G A 16: 97,412,135 M228I probably damaging Het
Bdp1 A C 13: 100,027,433 probably null Het
Calr A T 8: 84,844,119 D302E probably benign Het
Camta1 T C 4: 151,079,771 D340G probably benign Het
Car11 C T 7: 45,703,525 T236I possibly damaging Het
Cfap69 A T 5: 5,586,409 S275T probably benign Het
CN725425 T C 15: 91,245,815 S294P possibly damaging Het
Coro7 G A 16: 4,628,233 S876F possibly damaging Het
Cspg4 G A 9: 56,897,403 V1833M probably damaging Het
Dennd6b C A 15: 89,185,337 probably benign Het
Dhx30 A T 9: 110,085,273 Y979N possibly damaging Het
Dnah8 A T 17: 30,725,124 I1772F probably damaging Het
Dync2h1 A T 9: 6,993,942 I3976N possibly damaging Het
Ebi3 T C 17: 55,954,479 I125T probably damaging Het
Elfn2 C T 15: 78,672,368 A660T probably benign Het
F12 C T 13: 55,421,533 C209Y probably damaging Het
Fabp3 C T 4: 130,312,387 T57I probably benign Het
Fam126a T A 5: 23,999,991 M1L possibly damaging Het
Fgfr2 T A 7: 130,180,457 D413V probably damaging Het
Gdf10 T A 14: 33,932,043 I169N possibly damaging Het
Gdnf T C 15: 7,815,649 V41A probably benign Het
Gm9857 A T 3: 108,940,162 probably benign Het
Gpatch11 A G 17: 78,839,100 E58G possibly damaging Het
Gpr55 A G 1: 85,941,415 V148A possibly damaging Het
Gucy1b1 A G 3: 82,045,460 I222T probably benign Het
Hnf4a T C 2: 163,562,576 S227P probably damaging Het
Hsfy2 A G 1: 56,636,389 S330P possibly damaging Het
Ift122 T C 6: 115,923,883 V1054A probably benign Het
Il27 T A 7: 126,589,475 E175D probably benign Het
Lactb2 A T 1: 13,660,417 S12T probably damaging Het
Lrfn2 T C 17: 49,096,577 V576A probably benign Het
Mansc4 C G 6: 147,075,191 R309T possibly damaging Het
Med12l AACAGCA AACAGCAACAGCA 3: 59,275,958 probably benign Het
Mrpl16 C T 19: 11,774,595 R240* probably null Het
Muc3 A G 5: 137,143,995 V70A probably benign Het
Ndnf A G 6: 65,703,070 D111G probably benign Het
Nek4 T C 14: 30,982,427 F688S probably damaging Het
Nkx2-6 T A 14: 69,174,677 M98K probably benign Het
Nup188 T C 2: 30,340,655 S1402P probably benign Het
Olfr1036 T A 2: 86,075,250 V170D probably benign Het
Olfr1307 C T 2: 111,944,919 C179Y probably damaging Het
Olfr205 A T 16: 59,329,244 N88K probably benign Het
Olfr206 T C 16: 59,345,427 I91M possibly damaging Het
Olfr330 A T 11: 58,529,411 S192T probably damaging Het
Olfr418 T A 1: 173,270,900 S242T probably damaging Het
Olfr556 A G 7: 102,670,402 T161A possibly damaging Het
Parp10 A T 15: 76,242,070 V306E probably benign Het
Pcnx3 A G 19: 5,673,315 L1284P probably damaging Het
Pld1 A T 3: 28,049,240 I365F probably benign Het
Pnisr A G 4: 21,865,893 D294G probably damaging Het
Pogz C T 3: 94,878,849 T863I probably benign Het
Ptprn2 A C 12: 116,722,172 T84P possibly damaging Het
Rln1 C T 19: 29,332,068 E104K possibly damaging Het
Rnf38 A G 4: 44,138,681 S271P probably damaging Het
Rngtt A G 4: 33,368,660 T398A probably benign Het
Rprd2 G T 3: 95,764,803 T1096K probably damaging Het
Sema3e C T 5: 14,162,185 probably benign Het
Sema5a T A 15: 32,548,799 C140S probably damaging Het
Shpk A C 11: 73,222,931 D390A probably benign Het
Slc22a20 C T 19: 5,972,848 probably benign Het
Steap2 A G 5: 5,677,393 V314A possibly damaging Het
Stxbp5l A G 16: 37,290,927 probably null Het
Tgm3 G T 2: 130,041,768 E449* probably null Het
Tmem68 A C 4: 3,560,627 L186V probably damaging Het
Ttc41 T A 10: 86,776,252 W1130R possibly damaging Het
Ttpal T C 2: 163,615,366 F253L possibly damaging Het
Vmn2r99 G T 17: 19,362,252 V40F probably benign Het
Xkr9 G A 1: 13,700,943 V228M probably damaging Het
Zc3h7b C T 15: 81,777,067 A369V probably benign Het
Other mutations in Cib2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01780:Cib2 APN 9 54549886 missense probably damaging 0.97
IGL01868:Cib2 APN 9 54548475 missense probably damaging 0.98
IGL02350:Cib2 APN 9 54549886 missense probably damaging 0.97
IGL02357:Cib2 APN 9 54549886 missense probably damaging 0.97
IGL02656:Cib2 APN 9 54545898 missense probably damaging 1.00
PIT4377001:Cib2 UTSW 9 54559987 missense probably damaging 0.96
R0617:Cib2 UTSW 9 54554496 missense possibly damaging 0.71
R2409:Cib2 UTSW 9 54545467 unclassified probably null
R4790:Cib2 UTSW 9 54549803 unclassified probably null
R4910:Cib2 UTSW 9 54549879 missense probably benign 0.34
R6823:Cib2 UTSW 9 54549891 missense possibly damaging 0.89
Predicted Primers PCR Primer
(F):5'- CAGGCATTCCTCCAAGCCTTAGTG -3'
(R):5'- ACAGTTGGTGTGCAGGCTCTTC -3'

Sequencing Primer
(F):5'- GCCTTAGTGTGCTCAGCAATAAC -3'
(R):5'- GGAACATGCTTGCTGAACC -3'
Posted On2014-05-09