Incidental Mutation 'R7353:Cttnbp2'
ID 570732
Institutional Source Beutler Lab
Gene Symbol Cttnbp2
Ensembl Gene ENSMUSG00000000416
Gene Name cortactin binding protein 2
Synonyms ORF4, Cortbp2, 4732477G22Rik, 9130022E09Rik, 3010022N24Rik
MMRRC Submission 045439-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R7353 (G1)
Quality Score 225.009
Status Not validated
Chromosome 6
Chromosomal Location 18366477-18514842 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 18375943 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Lysine at position 1532 (I1532K)
Ref Sequence ENSEMBL: ENSMUSP00000088089 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000090601] [ENSMUST00000148602]
AlphaFold B9EJA2
Predicted Effect possibly damaging
Transcript: ENSMUST00000090601
AA Change: I1532K

PolyPhen 2 Score 0.945 (Sensitivity: 0.80; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000088089
Gene: ENSMUSG00000000416
AA Change: I1532K

DomainStartEndE-ValueType
low complexity region 19 30 N/A INTRINSIC
Pfam:CortBP2 32 138 3.1e-34 PFAM
low complexity region 197 213 N/A INTRINSIC
low complexity region 255 270 N/A INTRINSIC
low complexity region 393 415 N/A INTRINSIC
low complexity region 539 547 N/A INTRINSIC
low complexity region 594 606 N/A INTRINSIC
low complexity region 662 673 N/A INTRINSIC
ANK 699 729 5.21e1 SMART
ANK 733 762 7.02e-5 SMART
ANK 766 795 6.55e-5 SMART
ANK 799 828 4.1e-6 SMART
ANK 832 861 1.09e-1 SMART
ANK 901 931 4.43e-2 SMART
Blast:AAA 1108 1285 1e-18 BLAST
low complexity region 1609 1623 N/A INTRINSIC
Predicted Effect
SMART Domains Protein: ENSMUSP00000119383
Gene: ENSMUSG00000000416
AA Change: I1022K

DomainStartEndE-ValueType
low complexity region 71 79 N/A INTRINSIC
low complexity region 126 138 N/A INTRINSIC
ANK 190 220 5.21e1 SMART
ANK 224 253 7.02e-5 SMART
ANK 257 286 6.55e-5 SMART
ANK 290 319 4.1e-6 SMART
ANK 323 352 1.09e-1 SMART
ANK 392 422 4.43e-2 SMART
Blast:AAA 599 776 1e-18 BLAST
low complexity region 1100 1114 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000148602
SMART Domains Protein: ENSMUSP00000118432
Gene: ENSMUSG00000000416

DomainStartEndE-ValueType
Pfam:CortBP2 26 138 4.3e-50 PFAM
Pfam:CortBP2 134 180 1.3e-12 PFAM
low complexity region 197 213 N/A INTRINSIC
low complexity region 255 270 N/A INTRINSIC
low complexity region 393 415 N/A INTRINSIC
low complexity region 539 547 N/A INTRINSIC
low complexity region 594 606 N/A INTRINSIC
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.9%
  • 20x: 99.6%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein with six ankyrin repeats and several proline-rich regions. A similar gene in rat interacts with a central regulator of the actin cytoskeleton. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 67 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
3110070M22Rik C A 13: 119,624,714 (GRCm39) A11S unknown Het
Aadacl4 G A 4: 144,344,490 (GRCm39) V89I probably damaging Het
Abcc9 T A 6: 142,546,731 (GRCm39) I1369F probably damaging Het
Adgrf3 T A 5: 30,403,495 (GRCm39) I427F probably damaging Het
Alox12e T C 11: 70,212,261 (GRCm39) Y139C probably damaging Het
Arhgef2 T A 3: 88,542,993 (GRCm39) V397E possibly damaging Het
Arhgef28 T A 13: 98,211,710 (GRCm39) Y91F probably damaging Het
Bcar3 A G 3: 122,306,341 (GRCm39) T454A probably benign Het
Bicc1 G T 10: 70,783,730 (GRCm39) T469K probably benign Het
Boc C T 16: 44,306,100 (GRCm39) V1070M unknown Het
Ccdc88a T A 11: 29,413,368 (GRCm39) N635K probably benign Het
Ccr2 T C 9: 123,906,793 (GRCm39) S358P probably damaging Het
Ccser2 T C 14: 36,663,100 (GRCm39) Q28R possibly damaging Het
Cenpf T A 1: 189,386,335 (GRCm39) K1982* probably null Het
Csn1s2a A T 5: 87,933,161 (GRCm39) I137F possibly damaging Het
Dnajc13 C A 9: 104,107,230 (GRCm39) R304L possibly damaging Het
Dop1a T A 9: 86,394,912 (GRCm39) M664K probably damaging Het
Emilin3 T A 2: 160,750,741 (GRCm39) E336V probably damaging Het
Eml5 A G 12: 98,791,683 (GRCm39) Y63H Het
Fbxo41 G T 6: 85,456,958 (GRCm39) R404S possibly damaging Het
Gpr155 A T 2: 73,197,835 (GRCm39) Y456* probably null Het
Gpr156 T A 16: 37,812,523 (GRCm39) N286K probably damaging Het
Kcna5 A G 6: 126,511,808 (GRCm39) S107P probably benign Het
Kcne2 A T 16: 92,093,710 (GRCm39) H79L possibly damaging Het
Kcnh4 T A 11: 100,648,025 (GRCm39) M113L probably benign Het
Lad1 T A 1: 135,755,513 (GRCm39) L263Q probably damaging Het
Lctl G A 9: 64,034,249 (GRCm39) G296D probably damaging Het
Lmtk3 A T 7: 45,437,424 (GRCm39) I205F possibly damaging Het
Magel2 G T 7: 62,029,079 (GRCm39) R661L unknown Het
Mcm10 G A 2: 5,011,920 (GRCm39) P180S possibly damaging Het
Mia3 G T 1: 183,108,247 (GRCm39) A446D Het
N4bp2 G A 5: 65,963,714 (GRCm39) V588M probably benign Het
Naip6 C T 13: 100,436,259 (GRCm39) V755M probably benign Het
Neurl1a T C 19: 47,229,099 (GRCm39) V213A probably damaging Het
Nrdc A G 4: 108,896,946 (GRCm39) T522A probably damaging Het
Ntng1 T C 3: 110,042,763 (GRCm39) Q21R probably damaging Het
Nup160 T C 2: 90,534,296 (GRCm39) L707S probably damaging Het
Oas2 A T 5: 120,876,587 (GRCm39) V452D probably damaging Het
Or10a3n A G 7: 108,493,429 (GRCm39) F67L probably damaging Het
Or1j1 A G 2: 36,702,915 (GRCm39) L63P probably damaging Het
Or1j4 A T 2: 36,740,081 (GRCm39) M8L probably benign Het
Or1n1 G A 2: 36,749,680 (GRCm39) R227* probably null Het
Or52s1 A C 7: 102,861,516 (GRCm39) T150P probably damaging Het
Plekhg1 A T 10: 3,914,327 (GRCm39) T1405S Het
Pnrc1 G A 4: 33,248,300 (GRCm39) P33L probably damaging Het
Prkag2 A T 5: 25,085,684 (GRCm39) V312E possibly damaging Het
Rps17 T A 7: 80,994,093 (GRCm39) E76V possibly damaging Het
Rsph10b G A 5: 143,904,038 (GRCm39) G672S possibly damaging Het
Slc2a13 T C 15: 91,205,807 (GRCm39) N460S probably benign Het
Slco2b1 A T 7: 99,339,764 (GRCm39) C56S possibly damaging Het
Speer1f G A 5: 11,466,403 (GRCm39) D7N possibly damaging Het
Spn T C 7: 126,736,178 (GRCm39) T110A probably benign Het
Sult2a8 T C 7: 14,147,640 (GRCm39) N217S possibly damaging Het
Tbx2 C A 11: 85,724,315 (GRCm39) T128N probably damaging Het
Tecpr2 A T 12: 110,934,278 (GRCm39) M1313L probably benign Het
Tmc2 G A 2: 130,038,497 (GRCm39) probably null Het
Tstd1 G T 1: 171,247,523 (GRCm39) A69S probably damaging Het
Txnrd3 A G 6: 89,638,567 (GRCm39) D252G probably benign Het
Ulk2 T C 11: 61,710,174 (GRCm39) N345D probably damaging Het
Unc13c T C 9: 73,481,355 (GRCm39) D1694G probably benign Het
Vill T C 9: 118,894,561 (GRCm39) V406A probably damaging Het
Vmn2r115 T C 17: 23,564,887 (GRCm39) V258A possibly damaging Het
Vmn2r82 T A 10: 79,232,452 (GRCm39) M817K probably benign Het
Xpnpep3 T C 15: 81,315,088 (GRCm39) S263P probably benign Het
Zfp980 A G 4: 145,428,714 (GRCm39) D481G probably benign Het
Zmpste24 A G 4: 120,952,778 (GRCm39) S81P probably damaging Het
Znrf4 A G 17: 56,819,169 (GRCm39) V46A probably benign Het
Other mutations in Cttnbp2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00954:Cttnbp2 APN 6 18,381,061 (GRCm39) missense possibly damaging 0.71
IGL01014:Cttnbp2 APN 6 18,423,894 (GRCm39) missense probably damaging 0.98
IGL01148:Cttnbp2 APN 6 18,382,817 (GRCm39) missense probably damaging 1.00
IGL01903:Cttnbp2 APN 6 18,501,964 (GRCm39) missense probably damaging 1.00
IGL01906:Cttnbp2 APN 6 18,378,375 (GRCm39) nonsense probably null
IGL01994:Cttnbp2 APN 6 18,420,814 (GRCm39) missense possibly damaging 0.77
IGL02212:Cttnbp2 APN 6 18,382,748 (GRCm39) missense possibly damaging 0.78
IGL02696:Cttnbp2 APN 6 18,434,128 (GRCm39) missense probably benign 0.01
IGL02813:Cttnbp2 APN 6 18,367,537 (GRCm39) missense possibly damaging 0.94
IGL02864:Cttnbp2 APN 6 18,374,548 (GRCm39) missense probably benign 0.21
IGL03309:Cttnbp2 APN 6 18,381,035 (GRCm39) missense probably damaging 0.98
Feelers UTSW 6 18,405,278 (GRCm39) splice site probably null
warning UTSW 6 18,375,952 (GRCm39) missense probably damaging 1.00
BB009:Cttnbp2 UTSW 6 18,427,532 (GRCm39) missense probably damaging 1.00
BB019:Cttnbp2 UTSW 6 18,427,532 (GRCm39) missense probably damaging 1.00
FR4304:Cttnbp2 UTSW 6 18,367,457 (GRCm39) utr 3 prime probably benign
FR4449:Cttnbp2 UTSW 6 18,367,461 (GRCm39) utr 3 prime probably benign
FR4548:Cttnbp2 UTSW 6 18,367,462 (GRCm39) utr 3 prime probably benign
FR4589:Cttnbp2 UTSW 6 18,367,457 (GRCm39) utr 3 prime probably benign
FR4976:Cttnbp2 UTSW 6 18,367,466 (GRCm39) utr 3 prime probably benign
FR4976:Cttnbp2 UTSW 6 18,367,460 (GRCm39) utr 3 prime probably benign
R0165:Cttnbp2 UTSW 6 18,435,409 (GRCm39) nonsense probably null
R0382:Cttnbp2 UTSW 6 18,435,342 (GRCm39) missense probably benign 0.39
R0464:Cttnbp2 UTSW 6 18,408,690 (GRCm39) missense possibly damaging 0.81
R0550:Cttnbp2 UTSW 6 18,435,308 (GRCm39) missense possibly damaging 0.89
R0571:Cttnbp2 UTSW 6 18,381,102 (GRCm39) missense probably benign
R0627:Cttnbp2 UTSW 6 18,367,372 (GRCm39) makesense probably null
R0788:Cttnbp2 UTSW 6 18,423,834 (GRCm39) missense probably damaging 1.00
R0826:Cttnbp2 UTSW 6 18,405,177 (GRCm39) splice site probably benign
R1319:Cttnbp2 UTSW 6 18,434,629 (GRCm39) missense probably benign 0.00
R1476:Cttnbp2 UTSW 6 18,434,220 (GRCm39) missense probably damaging 1.00
R1572:Cttnbp2 UTSW 6 18,375,974 (GRCm39) missense possibly damaging 0.68
R1596:Cttnbp2 UTSW 6 18,408,591 (GRCm39) missense probably damaging 1.00
R1607:Cttnbp2 UTSW 6 18,435,432 (GRCm39) missense probably damaging 1.00
R1633:Cttnbp2 UTSW 6 18,435,166 (GRCm39) missense probably damaging 1.00
R1634:Cttnbp2 UTSW 6 18,408,656 (GRCm39) missense probably benign 0.39
R1661:Cttnbp2 UTSW 6 18,434,982 (GRCm39) missense probably benign 0.20
R1665:Cttnbp2 UTSW 6 18,434,982 (GRCm39) missense probably benign 0.20
R1834:Cttnbp2 UTSW 6 18,501,965 (GRCm39) missense probably damaging 1.00
R1853:Cttnbp2 UTSW 6 18,408,601 (GRCm39) missense probably benign 0.00
R1855:Cttnbp2 UTSW 6 18,378,412 (GRCm39) missense probably benign
R2018:Cttnbp2 UTSW 6 18,434,517 (GRCm39) missense probably damaging 1.00
R2169:Cttnbp2 UTSW 6 18,426,096 (GRCm39) missense probably benign 0.00
R2175:Cttnbp2 UTSW 6 18,434,828 (GRCm39) splice site probably null
R2202:Cttnbp2 UTSW 6 18,408,693 (GRCm39) missense probably benign 0.12
R2203:Cttnbp2 UTSW 6 18,408,693 (GRCm39) missense probably benign 0.12
R2204:Cttnbp2 UTSW 6 18,408,693 (GRCm39) missense probably benign 0.12
R2205:Cttnbp2 UTSW 6 18,408,693 (GRCm39) missense probably benign 0.12
R2371:Cttnbp2 UTSW 6 18,380,603 (GRCm39) missense possibly damaging 0.69
R2416:Cttnbp2 UTSW 6 18,448,285 (GRCm39) missense probably damaging 0.99
R3414:Cttnbp2 UTSW 6 18,389,204 (GRCm39) missense probably benign
R3617:Cttnbp2 UTSW 6 18,414,189 (GRCm39) missense probably damaging 1.00
R3861:Cttnbp2 UTSW 6 18,423,832 (GRCm39) missense probably benign 0.11
R3862:Cttnbp2 UTSW 6 18,434,905 (GRCm39) missense probably benign 0.02
R3940:Cttnbp2 UTSW 6 18,420,974 (GRCm39) missense probably benign 0.34
R3941:Cttnbp2 UTSW 6 18,427,452 (GRCm39) missense probably benign 0.11
R4097:Cttnbp2 UTSW 6 18,420,871 (GRCm39) missense probably benign
R4211:Cttnbp2 UTSW 6 18,427,542 (GRCm39) missense probably damaging 1.00
R4353:Cttnbp2 UTSW 6 18,514,703 (GRCm39) missense probably benign 0.00
R4367:Cttnbp2 UTSW 6 18,405,248 (GRCm39) missense probably damaging 1.00
R4651:Cttnbp2 UTSW 6 18,434,037 (GRCm39) missense possibly damaging 0.81
R4652:Cttnbp2 UTSW 6 18,434,037 (GRCm39) missense possibly damaging 0.81
R4660:Cttnbp2 UTSW 6 18,406,536 (GRCm39) missense probably benign 0.05
R4975:Cttnbp2 UTSW 6 18,406,525 (GRCm39) missense possibly damaging 0.91
R5064:Cttnbp2 UTSW 6 18,448,278 (GRCm39) missense probably damaging 1.00
R5205:Cttnbp2 UTSW 6 18,427,432 (GRCm39) splice site probably benign
R5305:Cttnbp2 UTSW 6 18,381,097 (GRCm39) missense probably benign
R5484:Cttnbp2 UTSW 6 18,427,689 (GRCm39) intron probably benign
R5629:Cttnbp2 UTSW 6 18,405,217 (GRCm39) missense probably damaging 1.00
R5763:Cttnbp2 UTSW 6 18,414,298 (GRCm39) missense probably benign 0.00
R5766:Cttnbp2 UTSW 6 18,381,032 (GRCm39) missense possibly damaging 0.87
R5942:Cttnbp2 UTSW 6 18,448,439 (GRCm39) missense probably damaging 1.00
R6073:Cttnbp2 UTSW 6 18,448,368 (GRCm39) missense probably benign 0.01
R6073:Cttnbp2 UTSW 6 18,434,232 (GRCm39) missense probably damaging 1.00
R6163:Cttnbp2 UTSW 6 18,434,950 (GRCm39) missense possibly damaging 0.91
R6545:Cttnbp2 UTSW 6 18,405,278 (GRCm39) splice site probably null
R6858:Cttnbp2 UTSW 6 18,448,452 (GRCm39) missense probably damaging 1.00
R7037:Cttnbp2 UTSW 6 18,435,117 (GRCm39) missense probably damaging 1.00
R7135:Cttnbp2 UTSW 6 18,448,446 (GRCm39) missense possibly damaging 0.95
R7141:Cttnbp2 UTSW 6 18,380,467 (GRCm39) missense probably benign 0.00
R7465:Cttnbp2 UTSW 6 18,501,991 (GRCm39) missense probably damaging 1.00
R7500:Cttnbp2 UTSW 6 18,378,419 (GRCm39) missense probably benign 0.00
R7534:Cttnbp2 UTSW 6 18,420,764 (GRCm39) critical splice donor site probably null
R7646:Cttnbp2 UTSW 6 18,375,939 (GRCm39) missense probably damaging 1.00
R7678:Cttnbp2 UTSW 6 18,382,809 (GRCm39) missense probably damaging 1.00
R7699:Cttnbp2 UTSW 6 18,514,734 (GRCm39) start codon destroyed possibly damaging 0.82
R7809:Cttnbp2 UTSW 6 18,434,289 (GRCm39) missense probably damaging 0.99
R7816:Cttnbp2 UTSW 6 18,448,413 (GRCm39) missense probably damaging 1.00
R7817:Cttnbp2 UTSW 6 18,426,092 (GRCm39) missense possibly damaging 0.58
R7932:Cttnbp2 UTSW 6 18,427,532 (GRCm39) missense probably damaging 1.00
R8010:Cttnbp2 UTSW 6 18,426,092 (GRCm39) missense possibly damaging 0.58
R8011:Cttnbp2 UTSW 6 18,426,092 (GRCm39) missense possibly damaging 0.58
R8014:Cttnbp2 UTSW 6 18,426,092 (GRCm39) missense possibly damaging 0.58
R8015:Cttnbp2 UTSW 6 18,426,092 (GRCm39) missense possibly damaging 0.58
R8095:Cttnbp2 UTSW 6 18,435,432 (GRCm39) missense probably damaging 1.00
R8754:Cttnbp2 UTSW 6 18,434,037 (GRCm39) missense possibly damaging 0.94
R8769:Cttnbp2 UTSW 6 18,376,003 (GRCm39) missense probably damaging 1.00
R8836:Cttnbp2 UTSW 6 18,375,952 (GRCm39) missense probably damaging 1.00
R8886:Cttnbp2 UTSW 6 18,414,298 (GRCm39) missense probably benign 0.00
R8921:Cttnbp2 UTSW 6 18,434,877 (GRCm39) missense probably benign 0.10
R8931:Cttnbp2 UTSW 6 18,434,808 (GRCm39) missense probably benign 0.00
R8956:Cttnbp2 UTSW 6 18,434,165 (GRCm39) missense possibly damaging 0.92
R9005:Cttnbp2 UTSW 6 18,434,430 (GRCm39) missense probably damaging 1.00
R9141:Cttnbp2 UTSW 6 18,429,138 (GRCm39) nonsense probably null
R9194:Cttnbp2 UTSW 6 18,434,850 (GRCm39) missense probably benign 0.00
R9425:Cttnbp2 UTSW 6 18,423,880 (GRCm39) missense probably damaging 1.00
R9563:Cttnbp2 UTSW 6 18,427,467 (GRCm39) nonsense probably null
R9563:Cttnbp2 UTSW 6 18,367,382 (GRCm39) missense probably benign 0.03
R9661:Cttnbp2 UTSW 6 18,429,151 (GRCm39) missense
R9763:Cttnbp2 UTSW 6 18,435,240 (GRCm39) missense probably benign
R9790:Cttnbp2 UTSW 6 18,376,027 (GRCm39) missense probably benign 0.03
R9791:Cttnbp2 UTSW 6 18,376,027 (GRCm39) missense probably benign 0.03
Z1176:Cttnbp2 UTSW 6 18,408,724 (GRCm39) missense possibly damaging 0.94
Z1176:Cttnbp2 UTSW 6 18,408,708 (GRCm39) missense probably benign 0.00
Z1176:Cttnbp2 UTSW 6 18,501,959 (GRCm39) nonsense probably null
Z1176:Cttnbp2 UTSW 6 18,420,835 (GRCm39) missense possibly damaging 0.83
Predicted Primers PCR Primer
(F):5'- TGGCTTGGGAGAAATGAATCC -3'
(R):5'- CAGAAGGTAGAGTGTCTAGAGTTC -3'

Sequencing Primer
(F):5'- CTTGGGAGAAATGAATCCAAGCAAAG -3'
(R):5'- TCTATTTGATAACTGGTTTGTTCCC -3'
Posted On 2019-09-13