Incidental Mutation 'R6038:Cabin1'
ID 486682
Institutional Source Beutler Lab
Gene Symbol Cabin1
Ensembl Gene ENSMUSG00000020196
Gene Name calcineurin binding protein 1
Synonyms A330070M20Rik, Ppp3in, Cain
MMRRC Submission 044208-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R6038 (G1)
Quality Score 225.009
Status Validated
Chromosome 10
Chromosomal Location 75481946-75600175 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 75575200 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 615 (V615A)
Ref Sequence ENSEMBL: ENSMUSP00000001712 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000001712]
AlphaFold G3X8Q1
Predicted Effect probably benign
Transcript: ENSMUST00000001712
AA Change: V615A

PolyPhen 2 Score 0.021 (Sensitivity: 0.95; Specificity: 0.80)
SMART Domains Protein: ENSMUSP00000001712
Gene: ENSMUSG00000020196
AA Change: V615A

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
Meta Mutation Damage Score 0.0998 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 98.4%
  • 20x: 95.7%
Validation Efficiency 100% (65/65)
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: 62 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc10 A G 17: 46,615,286 (GRCm39) C1327R probably damaging Het
Adcy7 A G 8: 89,049,608 (GRCm39) T704A probably benign Het
Adgra3 A T 5: 50,156,487 (GRCm39) Y414* probably null Het
Adgrf1 T C 17: 43,606,100 (GRCm39) S75P probably benign Het
Akirin1 A G 4: 123,643,956 (GRCm39) M1T probably null Het
Antxr1 C A 6: 87,263,982 (GRCm39) probably null Het
Arid1b A T 17: 5,386,957 (GRCm39) Y1470F probably benign Het
Baiap3 T C 17: 25,465,308 (GRCm39) D649G probably damaging Het
Cntnap1 G A 11: 101,075,462 (GRCm39) R880Q probably benign Het
Col28a1 T C 6: 8,013,140 (GRCm39) T971A probably benign Het
Coro7 A T 16: 4,497,414 (GRCm39) probably null Het
Cspg4b G A 13: 113,455,153 (GRCm39) V400M possibly damaging Het
Defb19 T G 2: 152,418,187 (GRCm39) probably null Het
Dnah17 T C 11: 117,946,715 (GRCm39) D3045G probably benign Het
Dock4 A T 12: 40,783,350 (GRCm39) probably null Het
Egln3 A G 12: 54,228,476 (GRCm39) V210A probably damaging Het
Epb41l4a T C 18: 33,987,388 (GRCm39) S330G probably benign Het
Epha7 G A 4: 28,821,521 (GRCm39) E229K probably damaging Het
Fetub C T 16: 22,751,081 (GRCm39) R143C probably damaging Het
Garin4 C T 1: 190,894,919 (GRCm39) E575K probably damaging Het
Garin5a C T 7: 44,149,719 (GRCm39) R147W probably damaging Het
Garin5b T C 7: 4,756,594 (GRCm39) probably null Het
Gm29587 G A 12: 74,269,309 (GRCm39) probably null Het
Gxylt2 T A 6: 100,781,555 (GRCm39) L410Q probably damaging Het
H2-M10.3 C A 17: 36,679,287 (GRCm39) C6F probably benign Het
Hecw1 G T 13: 14,520,647 (GRCm39) Q197K probably benign Het
Hk3 T C 13: 55,154,373 (GRCm39) M778V probably benign Het
Hydin A G 8: 111,325,663 (GRCm39) T4691A probably benign Het
Larp1 A G 11: 57,932,431 (GRCm39) E204G possibly damaging Het
Lrp12 A C 15: 39,735,776 (GRCm39) W738G probably damaging Het
Mdga2 A T 12: 66,676,827 (GRCm39) D488E probably damaging Het
Mrc1 G C 2: 14,261,882 (GRCm39) W290C probably damaging Het
Mtrex A T 13: 113,027,824 (GRCm39) S679T probably benign Het
Nhp2 T C 11: 51,510,912 (GRCm39) V55A probably benign Het
Nrm T C 17: 36,172,397 (GRCm39) S41P possibly damaging Het
Or10ag54 T A 2: 87,099,611 (GRCm39) I141N possibly damaging Het
Or11g25 T C 14: 50,723,677 (GRCm39) L254P probably damaging Het
Or7e165 A G 9: 19,694,858 (GRCm39) Y143C probably benign Het
Osbpl7 C T 11: 96,941,542 (GRCm39) P22S probably benign Het
Pebp1 A T 5: 117,422,170 (GRCm39) L124Q probably benign Het
Pfkp G T 13: 6,648,005 (GRCm39) H524N probably benign Het
Pnmt G A 11: 98,278,594 (GRCm39) D187N probably damaging Het
Ppl A T 16: 4,920,445 (GRCm39) I355K possibly damaging Het
Prom1 A T 5: 44,159,135 (GRCm39) Y836N probably damaging Het
Rubcnl T C 14: 75,269,410 (GRCm39) S23P probably benign Het
Sap130 T A 18: 31,813,539 (GRCm39) I532N probably damaging Het
Serpina1e A T 12: 103,913,095 (GRCm39) probably null Het
Slc12a3 T G 8: 95,057,100 (GRCm39) S124R probably benign Het
Slc24a5 A G 2: 124,927,651 (GRCm39) T317A probably benign Het
Smarcad1 T C 6: 65,050,232 (GRCm39) S284P possibly damaging Het
Spag9 C G 11: 94,002,918 (GRCm39) R724G probably damaging Het
Speg T C 1: 75,395,103 (GRCm39) probably null Het
Steap3 A G 1: 120,169,371 (GRCm39) Y271H probably damaging Het
Syne2 C T 12: 75,925,158 (GRCm39) Q44* probably null Het
Tas2r114 A T 6: 131,666,444 (GRCm39) C195S possibly damaging Het
Tcl1b4 T C 12: 105,168,766 (GRCm39) M10T possibly damaging Het
Tln1 G C 4: 43,555,052 (GRCm39) F259L probably damaging Het
Vmn2r60 C A 7: 41,844,386 (GRCm39) A583D probably benign Het
Wdhd1 T C 14: 47,501,037 (GRCm39) Q455R possibly damaging Het
Wdr17 A G 8: 55,085,346 (GRCm39) probably null Het
Xbp1 T C 11: 5,474,798 (GRCm39) L233P probably benign Het
Zbtb17 A G 4: 141,191,752 (GRCm39) E288G probably benign 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
R1959:Cabin1 UTSW 10 75,570,924 (GRCm39) missense possibly damaging 0.92
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
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'- GTGGGCACTGAGGTACTTTC -3'
(R):5'- GGATGGTGTACATGAGAGGCTC -3'

Sequencing Primer
(F):5'- CTTTCCAGAAAGGCAGTCATG -3'
(R):5'- TACATGAGAGGCTCACAGTGCTC -3'
Posted On 2017-08-16