Incidental Mutation 'R8544:Cabp2'
ID 659569
Institutional Source Beutler Lab
Gene Symbol Cabp2
Ensembl Gene ENSMUSG00000024857
Gene Name calcium binding protein 2
Synonyms
MMRRC Submission 068509-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.111) question?
Stock # R8544 (G1)
Quality Score 225.009
Status Validated
Chromosome 19
Chromosomal Location 4131578-4137340 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 4134892 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Serine at position 77 (R77S)
Ref Sequence ENSEMBL: ENSMUSP00000125255 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000159148] [ENSMUST00000159556] [ENSMUST00000159593] [ENSMUST00000162908]
AlphaFold no structure available at present
Predicted Effect possibly damaging
Transcript: ENSMUST00000159148
AA Change: R59S

PolyPhen 2 Score 0.911 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000125740
Gene: ENSMUSG00000024857
AA Change: R59S

DomainStartEndE-ValueType
low complexity region 36 46 N/A INTRINSIC
EFh 65 93 2.62e-5 SMART
Blast:EFh 101 126 3e-6 BLAST
EFh 139 167 1.26e-7 SMART
EFh 176 203 3.85e-3 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000159556
AA Change: R24S

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
SMART Domains Protein: ENSMUSP00000124389
Gene: ENSMUSG00000024857
AA Change: R24S

DomainStartEndE-ValueType
EFh 30 58 2.62e-5 SMART
Blast:EFh 66 91 2e-6 BLAST
EFh 104 132 1.26e-7 SMART
EFh 141 168 3.85e-3 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000159593
AA Change: R59S

PolyPhen 2 Score 0.911 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000124607
Gene: ENSMUSG00000024857
AA Change: R59S

DomainStartEndE-ValueType
low complexity region 36 46 N/A INTRINSIC
Pfam:EF-hand_1 65 93 2.8e-9 PFAM
Pfam:EF-hand_6 65 96 6.9e-8 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000162908
AA Change: R77S

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000125255
Gene: ENSMUSG00000024857
AA Change: R77S

DomainStartEndE-ValueType
low complexity region 25 39 N/A INTRINSIC
EFh 83 111 2.62e-5 SMART
Blast:EFh 119 144 4e-6 BLAST
EFh 157 185 1.26e-7 SMART
EFh 194 221 3.85e-3 SMART
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.6%
Validation Efficiency 97% (74/76)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene belongs to a subfamily of calcium binding proteins that share similarity to calmodulin. Like calmodulin, these family members can likely stimulate calmodulin-dependent kinase II and the protein phosphatase calcineurin. Calcium binding proteins are an important component of calcium mediated cellular signal transduction. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2016]
PHENOTYPE: Homozygous knockout affects calcium channels in cochlear inner hair cell synapses, resulting in hearing impairment. It also affects transmission of responses to light through the retinal circuits. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 75 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930447A16Rik C A 15: 37,425,979 (GRCm39) probably benign Het
Abcb5 A T 12: 118,832,461 (GRCm39) L1171H probably damaging Het
Ace A T 11: 105,862,116 (GRCm39) probably null Het
Adsl G T 15: 80,832,734 (GRCm39) probably benign Het
Cabin1 A G 10: 75,585,890 (GRCm39) M215T probably benign Het
Cast A T 13: 74,882,177 (GRCm39) H40Q possibly damaging Het
Ccar1 A T 10: 62,586,358 (GRCm39) Y946N unknown Het
Ccdc9b C T 2: 118,587,702 (GRCm39) R544K unknown Het
Chst14 A G 2: 118,758,010 (GRCm39) Y268C probably damaging Het
Dennd1a T C 2: 37,872,920 (GRCm39) probably null Het
Dnah1 A G 14: 30,990,861 (GRCm39) Y3153H probably damaging Het
Entpd8 T C 2: 24,973,856 (GRCm39) V271A probably benign Het
Eppk1 C T 15: 75,994,319 (GRCm39) R854Q probably benign Het
Fam234b A G 6: 135,210,287 (GRCm39) Y561C probably damaging Het
Flg A G 3: 93,195,448 (GRCm39) probably benign Het
Galnt5 T A 2: 57,907,160 (GRCm39) M541K probably damaging Het
Gjd3 C A 11: 98,873,488 (GRCm39) E119* probably null Het
Gm266 T C 12: 111,451,799 (GRCm39) T136A possibly damaging Het
Gng11 G A 6: 4,008,045 (GRCm39) C36Y possibly damaging Het
Gse1 G A 8: 121,280,391 (GRCm39) V36I probably damaging Het
Hycc2 T C 1: 58,568,981 (GRCm39) T477A probably benign Het
Invs A T 4: 48,397,598 (GRCm39) H335L probably damaging Het
Kcnc2 A T 10: 112,292,101 (GRCm39) I28F probably damaging Het
Klhl40 C T 9: 121,607,892 (GRCm39) H351Y probably damaging Het
Kremen2 A G 17: 23,961,201 (GRCm39) L382P probably benign Het
Lenep A T 3: 89,309,784 (GRCm39) C55S possibly damaging Het
Lrp12 A T 15: 39,741,970 (GRCm39) Y248* probably null Het
Man2c1 A G 9: 57,038,325 (GRCm39) probably null Het
Map2k2 T C 10: 80,955,376 (GRCm39) M32T possibly damaging Het
Mnt A G 11: 74,722,218 (GRCm39) R22G probably damaging Het
Mroh1 G T 15: 76,327,558 (GRCm39) E1127* probably null Het
Mtmr4 A G 11: 87,502,735 (GRCm39) R930G possibly damaging Het
Nalcn A G 14: 123,608,935 (GRCm39) V644A probably benign Het
Ngf G T 3: 102,427,991 (GRCm39) V247F probably damaging Het
Ninj2 A G 6: 120,175,018 (GRCm39) Y63C probably damaging Het
Or4c121 T C 2: 89,024,312 (GRCm39) E22G possibly damaging Het
Or51g2 A T 7: 102,622,938 (GRCm39) I87N probably damaging Het
Phf12 A C 11: 77,918,235 (GRCm39) I816L probably damaging Het
Pkhd1 C A 1: 20,593,199 (GRCm39) G1638V probably damaging Het
Plce1 T A 19: 38,512,903 (GRCm39) S67R probably benign Het
Plekhf1 A G 7: 37,920,768 (GRCm39) F267L probably damaging Het
Poc1b A T 10: 98,960,770 (GRCm39) K60* probably null Het
Ppic G A 18: 53,544,612 (GRCm39) T66M probably damaging Het
Prep G T 10: 45,029,223 (GRCm39) G541V probably damaging Het
Rasal3 C T 17: 32,611,093 (GRCm39) V947I probably benign Het
Rbl1 T C 2: 157,035,124 (GRCm39) R319G probably damaging Het
Rbm34 A G 8: 127,696,821 (GRCm39) S94P probably benign Het
Repin1 G T 6: 48,574,279 (GRCm39) E403* probably null Het
Sacm1l T C 9: 123,406,123 (GRCm39) probably null Het
Scaf8 T C 17: 3,213,295 (GRCm39) probably benign Het
Scrn1 T A 6: 54,499,841 (GRCm39) T215S probably benign Het
Sfrp4 A G 13: 19,816,336 (GRCm39) probably null Het
Slc37a3 T C 6: 39,321,297 (GRCm39) I406V possibly damaging Het
Sorbs1 G C 19: 40,365,244 (GRCm39) R180G probably benign Het
Sptbn1 C A 11: 30,169,750 (GRCm39) probably benign Het
St8sia5 T C 18: 77,342,114 (GRCm39) Y275H probably damaging Het
Stab1 A T 14: 30,885,008 (GRCm39) C137* probably null Het
Svep1 A G 4: 58,206,025 (GRCm39) S118P probably benign Het
Tbx6 A G 7: 126,380,656 (GRCm39) probably null Het
Tril C T 6: 53,796,295 (GRCm39) S309N possibly damaging Het
Trmt13 A G 3: 116,386,094 (GRCm39) probably null Het
Trpm1 T A 7: 63,874,356 (GRCm39) probably null Het
Tyr T C 7: 87,142,000 (GRCm39) T110A probably benign Het
Upf1 A C 8: 70,789,702 (GRCm39) F711C probably damaging Het
Usp5 A T 6: 124,800,480 (GRCm39) V267D probably damaging Het
Virma C A 4: 11,516,949 (GRCm39) D714E probably benign Het
Vmn2r115 A C 17: 23,564,773 (GRCm39) Q220P possibly damaging Het
Vmn2r40 T C 7: 8,911,191 (GRCm39) I701V Het
Vwde T A 6: 13,187,652 (GRCm39) M612L probably benign Het
Wwox A G 8: 115,215,646 (GRCm39) T140A probably benign Het
Zbtb17 CCCCCACCTCCACAGACCCCA CCCCCACCTCCACAGACCCCACCTCCACAGACCCCA 4: 141,194,139 (GRCm39) probably benign Het
Zbtb9 T A 17: 27,193,448 (GRCm39) C284* probably null Het
Zdhhc12 C A 2: 29,983,486 (GRCm39) A39S probably benign Het
Zfp532 T A 18: 65,758,227 (GRCm39) I720K possibly damaging Het
Zfp595 G A 13: 67,465,244 (GRCm39) R340C probably damaging Het
Other mutations in Cabp2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02160:Cabp2 APN 19 4,134,868 (GRCm39) splice site probably benign
IGL02338:Cabp2 APN 19 4,134,154 (GRCm39) missense possibly damaging 0.74
R0017:Cabp2 UTSW 19 4,136,242 (GRCm39) missense possibly damaging 0.88
R0153:Cabp2 UTSW 19 4,134,913 (GRCm39) splice site probably benign
R0432:Cabp2 UTSW 19 4,134,903 (GRCm39) missense possibly damaging 0.59
R2027:Cabp2 UTSW 19 4,137,126 (GRCm39) missense probably damaging 1.00
R3693:Cabp2 UTSW 19 4,133,593 (GRCm39) missense probably benign 0.02
R3694:Cabp2 UTSW 19 4,133,593 (GRCm39) missense probably benign 0.02
R3695:Cabp2 UTSW 19 4,133,593 (GRCm39) missense probably benign 0.02
R5935:Cabp2 UTSW 19 4,136,497 (GRCm39) missense probably damaging 1.00
R5939:Cabp2 UTSW 19 4,136,470 (GRCm39) missense possibly damaging 0.85
R6413:Cabp2 UTSW 19 4,135,698 (GRCm39) splice site probably null
R7023:Cabp2 UTSW 19 4,132,658 (GRCm39) critical splice acceptor site probably null
R8113:Cabp2 UTSW 19 4,135,582 (GRCm39) missense probably damaging 1.00
R9125:Cabp2 UTSW 19 4,135,597 (GRCm39) missense probably damaging 1.00
R9310:Cabp2 UTSW 19 4,136,464 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- GCTATGTACCTCAGAAGACTGTG -3'
(R):5'- AGCAGTCCTTGACCAGTGTG -3'

Sequencing Primer
(F):5'- TCCCATGGCAGGTCACAG -3'
(R):5'- CAAAGAAGGGAGGTTTTGC -3'
Posted On 2021-01-18