Incidental Mutation 'R6545:Cttnbp2'
ID 521096
Institutional Source Beutler Lab
Gene Symbol Cttnbp2
Ensembl Gene ENSMUSG00000000416
Gene Name cortactin binding protein 2
Synonyms ORF4, Cortbp2, 4732477G22Rik, 9130022E09Rik, 3010022N24Rik
MMRRC Submission 044671-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R6545 (G1)
Quality Score 225.009
Status Validated
Chromosome 6
Chromosomal Location 18366477-18514842 bp(-) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) A to T at 18405278 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Gene Model predicted gene model for transcript(s): [ENSMUST00000090601] [ENSMUST00000148602]
AlphaFold B9EJA2
Predicted Effect probably null
Transcript: ENSMUST00000090601
SMART Domains Protein: ENSMUSP00000088089
Gene: ENSMUSG00000000416

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 null
Transcript: ENSMUST00000141581
SMART Domains Protein: ENSMUSP00000123162
Gene: ENSMUSG00000000416

DomainStartEndE-ValueType
low complexity region 182 193 N/A INTRINSIC
Predicted Effect probably null
Transcript: ENSMUST00000146775
SMART Domains Protein: ENSMUSP00000119383
Gene: ENSMUSG00000000416

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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000152499
Meta Mutation Damage Score 0.9755 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.3%
  • 20x: 97.6%
Validation Efficiency 95% (42/44)
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: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ago1 C T 4: 126,348,145 (GRCm39) A58T possibly damaging Het
Ago4 T A 4: 126,405,811 (GRCm39) Q366L probably benign Het
Card10 C A 15: 78,661,010 (GRCm39) G950V probably damaging Het
Ceacam1 A T 7: 25,173,279 (GRCm39) V303D probably damaging Het
Cfap54 C T 10: 92,672,319 (GRCm39) R2917H probably benign Het
Cit A G 5: 115,984,493 (GRCm39) S22G probably null Het
Cog4 A G 8: 111,607,577 (GRCm39) E666G probably damaging Het
Crocc2 A G 1: 93,140,659 (GRCm39) D1103G probably benign Het
Dctn3 T C 4: 41,723,084 (GRCm39) E16G probably damaging Het
Dnah6 A G 6: 73,021,715 (GRCm39) S3536P probably damaging Het
Eef2 T A 10: 81,016,948 (GRCm39) I675N probably damaging Het
Gga3 A G 11: 115,477,995 (GRCm39) F531S possibly damaging Het
Gm19410 A G 8: 36,257,652 (GRCm39) R697G possibly damaging Het
Gm3173 T A 14: 15,728,395 (GRCm39) M18K possibly damaging Het
Gm5800 A T 14: 51,949,419 (GRCm39) S175R possibly damaging Het
Gria2 T C 3: 80,648,451 (GRCm39) K95R probably damaging Het
Gstm6 A G 3: 107,849,681 (GRCm39) I76T probably damaging Het
Harbi1 T G 2: 91,542,640 (GRCm39) Y34D probably damaging Het
Hectd2 C A 19: 36,564,778 (GRCm39) Q20K probably benign Het
Inpp5f C A 7: 128,296,280 (GRCm39) A250D possibly damaging Het
Irf9 T C 14: 55,842,684 (GRCm39) F59L probably damaging Het
Itgam T A 7: 127,707,044 (GRCm39) M625K probably damaging Het
Kcnh5 C T 12: 75,054,432 (GRCm39) R504Q probably damaging Het
Lama2 T C 10: 27,052,793 (GRCm39) T1389A probably benign Het
Lin54 T A 5: 100,632,996 (GRCm39) probably null Het
Mettl23 A G 11: 116,740,042 (GRCm39) D171G possibly damaging Het
Mgll A G 6: 88,802,685 (GRCm39) N296S probably benign Het
Mpv17 T A 5: 31,302,041 (GRCm39) probably benign Het
Myof A T 19: 37,930,745 (GRCm39) M1001K possibly damaging Het
Myom1 A T 17: 71,389,300 (GRCm39) Q850L probably benign Het
Or10ab5 A T 7: 108,245,662 (GRCm39) N40K probably damaging Het
Pias2 A G 18: 77,217,781 (GRCm39) I328V possibly damaging Het
Polh G A 17: 46,493,685 (GRCm39) P311S possibly damaging Het
Prss34 A T 17: 25,517,809 (GRCm39) R61S probably benign Het
Rassf2 A T 2: 131,840,237 (GRCm39) M280K probably damaging Het
Rpsa A G 9: 119,959,323 (GRCm39) H47R probably benign Het
Rtp3 A G 9: 110,815,894 (GRCm39) V219A possibly damaging Het
Smarcc2 T C 10: 128,319,997 (GRCm39) I790T probably benign Het
Stag3 A G 5: 138,296,614 (GRCm39) T491A possibly damaging Het
Svil C T 18: 5,108,621 (GRCm39) H2007Y probably benign Het
Togaram1 T G 12: 65,024,981 (GRCm39) C750G possibly damaging Het
Vmn2r13 A T 5: 109,304,806 (GRCm39) probably null Het
Vmn2r4 A T 3: 64,313,777 (GRCm39) D401E possibly damaging Het
Wdr97 C T 15: 76,247,578 (GRCm39) R1585C probably damaging Het
Wsb1 A T 11: 79,141,881 (GRCm39) D45E probably damaging Het
Zfp808 T A 13: 62,319,709 (GRCm39) Y313N 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
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'- GGCTCCCACACTTGTCTACATG -3'
(R):5'- CTGGCTGTAGTTGCTAAAATGGTC -3'

Sequencing Primer
(F):5'- GTCTACATGGACCACCTGATG -3'
(R):5'- GTAGTTGCTAAAATGGTCCTAGGAC -3'
Posted On 2018-06-06