Incidental Mutation 'R1959:Cabin1'
ID 218179
Institutional Source Beutler Lab
Gene Symbol Cabin1
Ensembl Gene ENSMUSG00000020196
Gene Name calcineurin binding protein 1
Synonyms A330070M20Rik, Ppp3in, Cain
MMRRC Submission 039973-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R1959 (G1)
Quality Score 225
Status Not validated
Chromosome 10
Chromosomal Location 75481946-75600175 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 75570924 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Glutamic Acid at position 784 (V784E)
Ref Sequence ENSEMBL: ENSMUSP00000001712 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000001712] [ENSMUST00000218878]
AlphaFold G3X8Q1
Predicted Effect possibly damaging
Transcript: ENSMUST00000001712
AA Change: V784E

PolyPhen 2 Score 0.917 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000001712
Gene: ENSMUSG00000020196
AA Change: V784E

DomainStartEndE-ValueType
low complexity region 61 71 N/A INTRINSIC
TPR 90 123 4.15e-2 SMART
TPR 124 157 5.69e0 SMART
low complexity region 312 326 N/A INTRINSIC
low complexity region 365 381 N/A INTRINSIC
TPR 615 648 9.7e0 SMART
low complexity region 740 750 N/A INTRINSIC
low complexity region 882 892 N/A INTRINSIC
TPR 1055 1088 6.92e1 SMART
low complexity region 1327 1349 N/A INTRINSIC
low complexity region 1714 1727 N/A INTRINSIC
low complexity region 1778 1790 N/A INTRINSIC
low complexity region 1791 1803 N/A INTRINSIC
low complexity region 1810 1831 N/A INTRINSIC
low complexity region 1941 1956 N/A INTRINSIC
Pfam:MEF2_binding 2123 2157 5.7e-26 PFAM
low complexity region 2165 2183 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000217810
Predicted Effect probably benign
Transcript: ENSMUST00000218878
Predicted Effect noncoding transcript
Transcript: ENSMUST00000220009
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.4%
  • 10x: 96.5%
  • 20x: 93.2%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Calcineurin plays an important role in the T-cell receptor-mediated signal transduction pathway. The protein encoded by this gene binds specifically to the activated form of calcineurin and inhibits calcineurin-mediated signal transduction. The encoded protein is found in the nucleus and contains a leucine zipper domain as well as several PEST motifs, sequences which confer targeted degradation to those proteins which contain them. Alternative splicing results in multiple transcript variants encoding two different isoforms. [provided by RefSeq, Jan 2011]
PHENOTYPE: Homozygous null mutants exhibit embryonic lethality during organogenesis. Mice producing a truncated protein exhibit elevated levels of serum IgG1, IgG2b and IgE, produce more IgG1 in response to T-cell dependent antigen, and have enhanced expression of cytokines in response to anti-CD3 stimulation. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 130 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc1 T C 16: 14,214,257 (GRCm39) Y191H probably damaging Het
Aco1 T C 4: 40,167,193 (GRCm39) probably null Het
Adap1 A G 5: 139,259,096 (GRCm39) Y364H probably benign Het
Add2 T C 6: 86,073,738 (GRCm39) F209S probably damaging Het
Adgb A T 10: 10,270,993 (GRCm39) D883E probably benign Het
Anapc1 C A 2: 128,475,335 (GRCm39) R1381S probably benign Het
Aoah A G 13: 20,978,564 (GRCm39) M1V probably null Het
Arap1 C A 7: 101,022,222 (GRCm39) A8E probably damaging Het
Arhgap10 A G 8: 78,136,255 (GRCm39) F319S possibly damaging Het
Btrc T G 19: 45,515,782 (GRCm39) I480S probably damaging Het
Card9 T A 2: 26,244,885 (GRCm39) probably null Het
Cdk18 A G 1: 132,045,559 (GRCm39) I238T possibly damaging Het
Clec12a A C 6: 129,327,444 (GRCm39) T21P possibly damaging Het
Commd3 A T 2: 18,678,774 (GRCm39) I70F probably benign Het
Cspg5 G A 9: 110,080,094 (GRCm39) V340M probably damaging Het
Cyb5r4 G A 9: 86,937,902 (GRCm39) S307N possibly damaging Het
Cyp26c1 T A 19: 37,675,825 (GRCm39) F230I probably damaging Het
Ddx11 A G 17: 66,437,723 (GRCm39) M150V probably benign Het
Dennd4b A G 3: 90,176,080 (GRCm39) Y190C probably damaging Het
Det1 A G 7: 78,493,191 (GRCm39) V271A probably benign Het
Dgkd C A 1: 87,857,549 (GRCm39) P754T possibly damaging Het
Dhx36 T C 3: 62,386,806 (GRCm39) S649G probably benign Het
Dlgap5 A G 14: 47,653,843 (GRCm39) I62T possibly damaging Het
Dmgdh A G 13: 93,857,067 (GRCm39) M724V probably benign Het
Dnah7a A G 1: 53,724,142 (GRCm39) S108P probably benign Het
Dock4 A T 12: 40,760,797 (GRCm39) K495M probably damaging Het
Dse A G 10: 34,036,202 (GRCm39) Y225H probably damaging Het
Emx1 G A 6: 85,180,916 (GRCm39) R211K probably damaging Het
Ergic2 A G 6: 148,100,852 (GRCm39) probably null Het
Fbxo27 G A 7: 28,397,797 (GRCm39) C277Y possibly damaging Het
Fcrl1 T C 3: 87,283,827 (GRCm39) I9T possibly damaging Het
Fjx1 T C 2: 102,281,152 (GRCm39) E261G probably benign Het
Flacc1 A T 1: 58,698,437 (GRCm39) V327D possibly damaging Het
Flnb C T 14: 7,884,735 (GRCm38) Q445* probably null Het
Flrt2 G A 12: 95,747,074 (GRCm39) V471I probably benign Het
Frmd4a G A 2: 4,539,997 (GRCm39) V210M probably damaging Het
Fsip2 A G 2: 82,821,894 (GRCm39) K5876E probably benign Het
Galnt10 T C 11: 57,656,443 (GRCm39) L209P probably damaging Het
Gata5 A T 2: 179,968,729 (GRCm39) S382T possibly damaging Het
Glt6d1 C A 2: 25,684,425 (GRCm39) V194L probably damaging Het
Gm10803 T G 2: 93,394,288 (GRCm39) V20G unknown Het
Gm44511 T G 6: 128,797,234 (GRCm39) T52P probably damaging Het
Gpat4 A T 8: 23,672,952 (GRCm39) L88Q possibly damaging Het
Gpr15 T A 16: 58,538,370 (GRCm39) I240L probably benign Het
Hivep2 A T 10: 14,008,453 (GRCm39) I1684F probably benign Het
Hmcn1 T C 1: 150,525,427 (GRCm39) T3366A probably benign Het
Hnmt A G 2: 23,893,894 (GRCm39) V200A possibly damaging Het
Hps6 A T 19: 45,992,774 (GRCm39) H237L probably benign Het
Hspg2 C T 4: 137,292,206 (GRCm39) P4033S probably damaging Het
Ift70b C T 2: 75,767,443 (GRCm39) E437K probably benign Het
Irf9 T A 14: 55,845,174 (GRCm39) S297T possibly damaging Het
Kdm3b T C 18: 34,945,448 (GRCm39) V753A possibly damaging Het
Kif21a G A 15: 90,855,051 (GRCm39) A703V probably damaging Het
Kif27 T G 13: 58,440,937 (GRCm39) R1159S probably benign Het
Krtap4-16 A G 11: 99,742,373 (GRCm39) V9A unknown Het
Lama2 G T 10: 27,298,614 (GRCm39) P161T probably damaging Het
Ltbp4 G A 7: 27,028,443 (GRCm39) P273L unknown Het
Lvrn T A 18: 47,027,784 (GRCm39) S866R probably damaging Het
Med13 A G 11: 86,189,805 (GRCm39) Y1035H probably damaging Het
Mertk T A 2: 128,601,010 (GRCm39) N331K probably damaging Het
Mios T A 6: 8,215,437 (GRCm39) F211Y probably benign Het
Mpeg1 G A 19: 12,440,275 (GRCm39) V578M probably damaging Het
Mphosph9 A T 5: 124,453,764 (GRCm39) S183T possibly damaging Het
Mrto4 A T 4: 139,076,949 (GRCm39) I56N probably damaging Het
Muc5b T C 7: 141,416,374 (GRCm39) C3107R possibly damaging Het
Ncoa2 A G 1: 13,230,476 (GRCm39) Y1023H probably damaging Het
Nlrp2 T C 7: 5,330,737 (GRCm39) E553G probably damaging Het
Nlrp6 GAGAAGAAGAAGAAGAAGAAGA GAGAAGAAGAAGAAGAAGA 7: 140,504,026 (GRCm39) probably benign Het
Nr2f1 T C 13: 78,337,935 (GRCm39) T237A probably damaging Het
Nup205 C A 6: 35,210,301 (GRCm39) Q1621K probably benign Het
Nup50l A G 6: 96,142,250 (GRCm39) S265P possibly damaging Het
Nxpe2 T A 9: 48,231,026 (GRCm39) S448C probably benign Het
Ogdh T A 11: 6,296,638 (GRCm39) C498S possibly damaging Het
Oplah G A 15: 76,181,664 (GRCm39) T1119I probably damaging Het
Or14a256 A T 7: 86,265,639 (GRCm39) F71L probably benign Het
Or2ag15 T C 7: 106,340,601 (GRCm39) E180G probably damaging Het
Or2d2 A T 7: 106,727,717 (GRCm39) D294E possibly damaging Het
Or5ak24 T C 2: 85,260,963 (GRCm39) D70G probably damaging Het
Or5d46 T C 2: 88,170,545 (GRCm39) L212P probably damaging Het
Or6p1 A T 1: 174,258,471 (GRCm39) K159M probably damaging Het
Or8s8 T C 15: 98,354,634 (GRCm39) S148P probably damaging Het
Pcdhb9 T A 18: 37,536,369 (GRCm39) Y788N probably damaging Het
Pcsk5 T C 19: 17,410,782 (GRCm39) D1870G unknown Het
Pde6g A G 11: 120,338,962 (GRCm39) L76P probably damaging Het
Peak1 A T 9: 56,114,073 (GRCm39) Y593N probably damaging Het
Pfas C T 11: 68,885,110 (GRCm39) G16R probably damaging Het
Pkd1l2 A T 8: 117,769,970 (GRCm39) probably null Het
Pla2g3 C T 11: 3,440,983 (GRCm39) T316I probably benign Het
Ptpru T A 4: 131,530,788 (GRCm39) I489F probably damaging Het
Rere T G 4: 150,553,247 (GRCm39) H146Q probably benign Het
Rundc1 A T 11: 101,322,322 (GRCm39) Q272L probably damaging Het
Scml4 T C 10: 42,832,017 (GRCm39) L305P probably damaging Het
Sec16a A T 2: 26,320,144 (GRCm39) H1431Q probably benign Het
Serpina1a G A 12: 103,820,059 (GRCm39) Q373* probably null Het
Shank1 A T 7: 43,974,801 (GRCm39) N377I unknown Het
Shc2 T C 10: 79,462,625 (GRCm39) probably null Het
Slc22a29 C A 19: 8,146,557 (GRCm39) R415M probably benign Het
Slc7a2 A T 8: 41,368,002 (GRCm39) I589F probably damaging Het
Smim8 C T 4: 34,771,316 (GRCm39) R26Q probably damaging Het
Smox C A 2: 131,362,384 (GRCm39) A221D probably damaging Het
Sox5 A G 6: 143,819,831 (GRCm39) S62P possibly damaging Het
Spg21 A C 9: 65,391,774 (GRCm39) K240N probably damaging Het
Sv2c C T 13: 96,113,153 (GRCm39) V599M probably damaging Het
Tanc2 T A 11: 105,801,121 (GRCm39) H1112Q probably damaging Het
Tbata T C 10: 61,011,623 (GRCm39) I58T possibly damaging Het
Tbc1d2 T G 4: 46,606,419 (GRCm39) Y842S probably benign Het
Tctn1 A T 5: 122,379,903 (GRCm39) probably null Het
Tenm1 T C X: 41,916,078 (GRCm39) D402G probably benign Het
Tfcp2l1 T C 1: 118,597,119 (GRCm39) V400A probably benign Het
Tm9sf2 T A 14: 122,363,576 (GRCm39) L99I probably benign Het
Top2a T C 11: 98,886,803 (GRCm39) probably null Het
Traf7 C A 17: 24,732,255 (GRCm39) G191C probably damaging Het
Trpm1 T A 7: 63,879,978 (GRCm39) L661Q probably damaging Het
Ttn T C 2: 76,580,967 (GRCm39) I23309V probably benign Het
Usp50 T C 2: 126,619,881 (GRCm39) K199E possibly damaging Het
Vmn1r218 T C 13: 23,320,683 (GRCm39) F10S probably damaging Het
Vmn2r89 C A 14: 51,694,897 (GRCm39) T459K probably benign Het
Vps13a T G 19: 16,655,302 (GRCm39) S1909R possibly damaging Het
Vwa5b2 T C 16: 20,420,941 (GRCm39) probably null Het
Vwa8 A G 14: 79,219,800 (GRCm39) H516R possibly damaging Het
Wnk1 T C 6: 119,946,208 (GRCm39) I648M probably damaging Het
Zfat G C 15: 68,018,392 (GRCm39) P974R probably benign Het
Zfc3h1 T A 10: 115,259,158 (GRCm39) I1601K probably benign Het
Zfp239 A G 6: 117,848,778 (GRCm39) K172R probably benign Het
Zfp335 C T 2: 164,736,722 (GRCm39) G971D probably damaging Het
Zfp532 A T 18: 65,757,563 (GRCm39) I499F probably damaging Het
Zfp647 T C 15: 76,795,314 (GRCm39) T449A possibly damaging Het
Zfp938 C T 10: 82,061,465 (GRCm39) G385D probably damaging Het
Zfp959 T G 17: 56,204,404 (GRCm39) V147G probably damaging Het
Znfx1 A T 2: 166,892,270 (GRCm39) C649S probably damaging Het
Other mutations in Cabin1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01434:Cabin1 APN 10 75,561,420 (GRCm39) missense possibly damaging 0.58
IGL01457:Cabin1 APN 10 75,578,263 (GRCm39) missense probably damaging 0.96
IGL02217:Cabin1 APN 10 75,535,881 (GRCm39) missense possibly damaging 0.95
IGL02649:Cabin1 APN 10 75,573,252 (GRCm39) missense probably damaging 1.00
IGL02737:Cabin1 APN 10 75,549,419 (GRCm39) missense probably benign 0.09
IGL02792:Cabin1 APN 10 75,582,573 (GRCm39) missense probably damaging 1.00
IGL03047:Cabin1 APN 10 75,535,934 (GRCm39) splice site probably benign
IGL03106:Cabin1 APN 10 75,569,462 (GRCm39) missense probably benign 0.01
IGL03276:Cabin1 APN 10 75,568,247 (GRCm39) missense probably damaging 1.00
bison UTSW 10 75,520,157 (GRCm39) missense probably damaging 1.00
range UTSW 10 75,494,481 (GRCm39) missense probably damaging 1.00
R0335:Cabin1 UTSW 10 75,492,883 (GRCm39) missense probably damaging 1.00
R0557:Cabin1 UTSW 10 75,562,751 (GRCm39) missense probably damaging 1.00
R0578:Cabin1 UTSW 10 75,549,444 (GRCm39) missense probably damaging 0.96
R0588:Cabin1 UTSW 10 75,581,171 (GRCm39) missense possibly damaging 0.71
R1115:Cabin1 UTSW 10 75,553,511 (GRCm39) missense possibly damaging 0.70
R1120:Cabin1 UTSW 10 75,561,550 (GRCm39) missense probably damaging 1.00
R1439:Cabin1 UTSW 10 75,492,640 (GRCm39) missense probably damaging 1.00
R1471:Cabin1 UTSW 10 75,530,626 (GRCm39) missense probably damaging 1.00
R1794:Cabin1 UTSW 10 75,561,579 (GRCm39) missense possibly damaging 0.52
R1844:Cabin1 UTSW 10 75,579,184 (GRCm39) splice site probably null
R2008:Cabin1 UTSW 10 75,570,810 (GRCm39) splice site probably null
R2279:Cabin1 UTSW 10 75,589,295 (GRCm39) missense probably benign
R3150:Cabin1 UTSW 10 75,492,745 (GRCm39) missense probably damaging 1.00
R3929:Cabin1 UTSW 10 75,587,452 (GRCm39) critical splice acceptor site probably null
R3945:Cabin1 UTSW 10 75,581,093 (GRCm39) missense probably damaging 1.00
R3946:Cabin1 UTSW 10 75,581,093 (GRCm39) missense probably damaging 1.00
R4206:Cabin1 UTSW 10 75,590,675 (GRCm39) missense possibly damaging 0.69
R4812:Cabin1 UTSW 10 75,482,428 (GRCm39) missense possibly damaging 0.93
R4944:Cabin1 UTSW 10 75,575,255 (GRCm39) missense probably damaging 0.99
R4944:Cabin1 UTSW 10 75,557,197 (GRCm39) missense probably damaging 1.00
R5078:Cabin1 UTSW 10 75,557,312 (GRCm39) missense probably damaging 1.00
R5082:Cabin1 UTSW 10 75,574,164 (GRCm39) missense probably damaging 0.99
R5319:Cabin1 UTSW 10 75,561,549 (GRCm39) missense probably damaging 1.00
R5481:Cabin1 UTSW 10 75,570,900 (GRCm39) missense probably benign 0.29
R5504:Cabin1 UTSW 10 75,488,843 (GRCm39) missense probably benign 0.00
R5710:Cabin1 UTSW 10 75,482,852 (GRCm39) missense probably benign 0.00
R5908:Cabin1 UTSW 10 75,557,366 (GRCm39) missense probably damaging 1.00
R5975:Cabin1 UTSW 10 75,493,673 (GRCm39) missense probably damaging 1.00
R5982:Cabin1 UTSW 10 75,561,394 (GRCm39) missense probably benign 0.00
R6038:Cabin1 UTSW 10 75,575,200 (GRCm39) missense probably benign 0.02
R6038:Cabin1 UTSW 10 75,575,200 (GRCm39) missense probably benign 0.02
R6114:Cabin1 UTSW 10 75,583,805 (GRCm39) missense probably benign 0.00
R6285:Cabin1 UTSW 10 75,520,157 (GRCm39) missense probably damaging 1.00
R6341:Cabin1 UTSW 10 75,494,573 (GRCm39) missense probably damaging 0.98
R6361:Cabin1 UTSW 10 75,562,699 (GRCm39) missense possibly damaging 0.91
R6395:Cabin1 UTSW 10 75,582,576 (GRCm39) missense probably benign 0.10
R6422:Cabin1 UTSW 10 75,492,626 (GRCm39) missense probably damaging 1.00
R6575:Cabin1 UTSW 10 75,561,535 (GRCm39) missense possibly damaging 0.90
R6763:Cabin1 UTSW 10 75,582,564 (GRCm39) missense probably damaging 0.99
R6845:Cabin1 UTSW 10 75,557,342 (GRCm39) missense probably damaging 1.00
R6936:Cabin1 UTSW 10 75,551,592 (GRCm39) splice site probably null
R7050:Cabin1 UTSW 10 75,549,376 (GRCm39) missense probably damaging 1.00
R7055:Cabin1 UTSW 10 75,579,117 (GRCm39) missense probably benign 0.04
R7101:Cabin1 UTSW 10 75,587,401 (GRCm39) missense probably benign
R7138:Cabin1 UTSW 10 75,581,187 (GRCm39) missense probably damaging 0.98
R7173:Cabin1 UTSW 10 75,582,396 (GRCm39) missense probably benign 0.00
R7265:Cabin1 UTSW 10 75,557,257 (GRCm39) missense
R7284:Cabin1 UTSW 10 75,530,668 (GRCm39) missense
R7472:Cabin1 UTSW 10 75,494,481 (GRCm39) missense probably damaging 1.00
R7571:Cabin1 UTSW 10 75,482,500 (GRCm39) missense probably damaging 1.00
R7617:Cabin1 UTSW 10 75,568,277 (GRCm39) missense possibly damaging 0.85
R7739:Cabin1 UTSW 10 75,494,492 (GRCm39) missense probably damaging 1.00
R7997:Cabin1 UTSW 10 75,569,609 (GRCm39) missense probably benign 0.01
R8347:Cabin1 UTSW 10 75,578,201 (GRCm39) missense probably damaging 0.98
R8544:Cabin1 UTSW 10 75,585,890 (GRCm39) missense probably benign 0.17
R8546:Cabin1 UTSW 10 75,578,101 (GRCm39) missense probably damaging 1.00
R8692:Cabin1 UTSW 10 75,587,410 (GRCm39) missense probably benign 0.28
R8839:Cabin1 UTSW 10 75,492,650 (GRCm39) missense probably benign 0.00
R9010:Cabin1 UTSW 10 75,570,892 (GRCm39) nonsense probably null
R9108:Cabin1 UTSW 10 75,492,973 (GRCm39) missense possibly damaging 0.94
R9204:Cabin1 UTSW 10 75,530,550 (GRCm39) missense probably benign 0.01
R9259:Cabin1 UTSW 10 75,582,576 (GRCm39) missense probably benign
R9312:Cabin1 UTSW 10 75,561,569 (GRCm39) missense probably benign 0.07
R9421:Cabin1 UTSW 10 75,493,658 (GRCm39) missense probably damaging 1.00
R9439:Cabin1 UTSW 10 75,581,069 (GRCm39) missense probably damaging 1.00
R9578:Cabin1 UTSW 10 75,590,185 (GRCm39) missense probably damaging 0.99
R9645:Cabin1 UTSW 10 75,494,543 (GRCm39) missense probably benign 0.36
R9649:Cabin1 UTSW 10 75,575,239 (GRCm39) missense probably damaging 0.98
R9711:Cabin1 UTSW 10 75,579,090 (GRCm39) missense probably benign 0.02
Z1177:Cabin1 UTSW 10 75,483,957 (GRCm39) missense probably benign 0.03
Predicted Primers PCR Primer
(F):5'- TATCAGAGACACGCCTGCTG -3'
(R):5'- GTTCCCAAGTCAGTGTGCTC -3'

Sequencing Primer
(F):5'- AGACACGCCTGCTGAGACAG -3'
(R):5'- AAGTCAGTGTGCTCGTGCC -3'
Posted On 2014-08-01