Incidental Mutation 'BB019:Cttnbp2'
ID 643055
Institutional Source Beutler Lab
Gene Symbol Cttnbp2
Ensembl Gene ENSMUSG00000000416
Gene Name cortactin binding protein 2
Synonyms ORF4, Cortbp2, 4732477G22Rik, 9130022E09Rik, 3010022N24Rik
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # BB019
Quality Score 225.009
Status Not validated
Chromosome 6
Chromosomal Location 18366477-18514842 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 18427532 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Phenylalanine at position 716 (L716F)
Ref Sequence ENSEMBL: ENSMUSP00000088089 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000090601] [ENSMUST00000148602]
AlphaFold B9EJA2
Predicted Effect probably damaging
Transcript: ENSMUST00000090601
AA Change: L716F

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000088089
Gene: ENSMUSG00000000416
AA Change: L716F

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 probably damaging
Transcript: ENSMUST00000146775
AA Change: L206F

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000119383
Gene: ENSMUSG00000000416
AA Change: L206F

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: 99.9%
  • 10x: 99.7%
  • 20x: 98.9%
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: 68 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acss2 A G 2: 155,415,100 (GRCm39) R666G unknown Het
Adam21 T A 12: 81,606,938 (GRCm39) N275Y probably damaging Het
Arhgap24 A T 5: 102,993,835 (GRCm39) probably benign Het
Arhgef1 C T 7: 24,619,135 (GRCm39) L459F probably damaging Het
Bbx A T 16: 50,030,806 (GRCm39) probably null Het
Blk C T 14: 63,611,008 (GRCm39) G445S possibly damaging Het
Brca1 T C 11: 101,430,843 (GRCm39) E33G possibly damaging Het
Cacna1s T G 1: 136,012,097 (GRCm39) L513R probably damaging Het
Cnn3 T A 3: 121,245,078 (GRCm39) M98K probably benign Het
Dlgap1 A T 17: 70,823,233 (GRCm39) R73W probably damaging Het
Dnajc4 A G 19: 6,965,638 (GRCm39) L182P probably damaging Het
Dock2 T C 11: 34,217,998 (GRCm39) M1191V probably benign Het
Fam13a C T 6: 58,960,873 (GRCm39) probably null Het
Fbn2 C T 18: 58,153,555 (GRCm39) G2569E possibly damaging Het
Fes T C 7: 80,029,620 (GRCm39) I623V probably damaging Het
Fyco1 A C 9: 123,658,055 (GRCm39) L707R possibly damaging Het
Gadd45b T A 10: 80,766,169 (GRCm39) V7E possibly damaging Het
Gm19410 T A 8: 36,262,753 (GRCm39) C897S probably damaging Het
Hk1 A G 10: 62,151,299 (GRCm39) L31P probably damaging Het
Hoxa4 T G 6: 52,167,397 (GRCm39) K261N probably damaging Het
Hrh4 T A 18: 13,148,869 (GRCm39) L77* probably null Het
Igf1r A T 7: 67,861,802 (GRCm39) I1121F possibly damaging Het
Igkv16-104 A T 6: 68,402,778 (GRCm39) I24L probably benign Het
Itk A T 11: 46,231,519 (GRCm39) W346R probably benign Het
Kdm2a A G 19: 4,369,184 (GRCm39) S1144P probably damaging Het
Krt86 A T 15: 101,374,473 (GRCm39) S289C probably damaging Het
Lonrf1 T C 8: 36,690,070 (GRCm39) I663V probably benign Het
Lrp2 T G 2: 69,256,371 (GRCm39) I4590L probably benign Het
Lrrc8d C T 5: 105,960,891 (GRCm39) R434C probably damaging Het
Maneal T C 4: 124,755,638 (GRCm39) Y108C probably damaging Het
Myh8 G A 11: 67,185,430 (GRCm39) V894I probably benign Het
Ncam2 T G 16: 81,412,708 (GRCm39) L732R probably damaging Het
Nsun4 A T 4: 115,901,997 (GRCm39) D156E probably damaging Het
Or10z1 T C 1: 174,078,260 (GRCm39) I78V probably benign Het
Or1e23 A C 11: 73,407,983 (GRCm39) L14R probably damaging Het
Or2n1d A T 17: 38,646,146 (GRCm39) I33L probably benign Het
Or5b106 A T 19: 13,123,345 (GRCm39) M226K probably benign Het
Or5v1b T C 17: 37,841,075 (GRCm39) I69T probably benign Het
Or6c66 C A 10: 129,461,094 (GRCm39) V279F probably damaging Het
P2rx7 G A 5: 122,782,245 (GRCm39) V37I probably benign Het
Pcdh15 A G 10: 74,481,359 (GRCm39) R235G probably benign Het
Pcdhga1 T C 18: 37,796,513 (GRCm39) S506P probably damaging Het
Pira2 A T 7: 3,845,435 (GRCm39) probably null Het
Plch1 A G 3: 63,609,402 (GRCm39) V935A probably benign Het
Plscr4 C T 9: 92,372,843 (GRCm39) R322* probably null Het
Prpf8 A G 11: 75,383,423 (GRCm39) D607G possibly damaging Het
Ptdss1 T C 13: 67,114,496 (GRCm39) W215R probably damaging Het
Ptpn9 C A 9: 56,943,900 (GRCm39) P258Q possibly damaging Het
Rfpl4b A G 10: 38,697,346 (GRCm39) V85A possibly damaging Het
Sacs C A 14: 61,442,327 (GRCm39) Q1458K probably damaging Het
Scfd2 A T 5: 74,692,211 (GRCm39) S24T probably benign Het
Siae A G 9: 37,544,980 (GRCm39) D325G probably benign Het
Slc22a23 C A 13: 34,366,960 (GRCm39) A683S probably damaging Het
Slc44a3 A T 3: 121,306,009 (GRCm39) I244N possibly damaging Het
Srrm2 T A 17: 24,037,501 (GRCm39) S1382T probably benign Het
Tfap2c A G 2: 172,393,706 (GRCm39) Y207C probably damaging Het
Timd5 C A 11: 46,426,366 (GRCm39) P158T probably benign Het
Tnc T C 4: 63,926,857 (GRCm39) I890V probably benign Het
Trim30a A T 7: 104,078,545 (GRCm39) I177N probably benign Het
Tshz2 T A 2: 169,728,251 (GRCm39) M949K possibly damaging Het
Ttn T G 2: 76,555,530 (GRCm39) T30492P probably damaging Het
Ubb C T 11: 62,443,611 (GRCm39) Q214* probably null Het
Ulk2 A G 11: 61,698,916 (GRCm39) S423P probably benign Het
Vmn1r237 C A 17: 21,534,725 (GRCm39) D149E probably benign Het
Zbtb24 A G 10: 41,327,504 (GRCm39) D130G probably benign Het
Zfp689 C A 7: 127,043,523 (GRCm39) G369V probably damaging Het
Zg16 A G 7: 126,649,577 (GRCm39) F128S probably damaging Het
Zmym1 T G 4: 126,944,578 (GRCm39) N203T possibly damaging 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
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
R7353:Cttnbp2 UTSW 6 18,375,943 (GRCm39) missense possibly damaging 0.94
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'- CAAGAGGACCCTTTGCTCACAG -3'
(R):5'- AGGGATACATGTTCATGTCTCTGTG -3'

Sequencing Primer
(F):5'- TGATTTAAATCACCTTTGGTCATCC -3'
(R):5'- CTGTGTGTGTGATTCAAAAAGGAATG -3'
Posted On 2020-08-01