Incidental Mutation 'R9790:Cttnbp2'
ID 735870
Institutional Source Beutler Lab
Gene Symbol Cttnbp2
Ensembl Gene ENSMUSG00000000416
Gene Name cortactin binding protein 2
Synonyms ORF4, Cortbp2, 4732477G22Rik, 9130022E09Rik, 3010022N24Rik
MMRRC Submission
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R9790 (G1)
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 18376027 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Leucine at position 1504 (H1504L)
Ref Sequence ENSEMBL: ENSMUSP00000088089 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000090601] [ENSMUST00000148602]
AlphaFold B9EJA2
Predicted Effect probably benign
Transcript: ENSMUST00000090601
AA Change: H1504L

PolyPhen 2 Score 0.029 (Sensitivity: 0.95; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000088089
Gene: ENSMUSG00000000416
AA Change: H1504L

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: H994L

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: 99.9%
  • 3x: 99.8%
  • 10x: 99.3%
  • 20x: 98.4%
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: 72 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb1a T C 5: 8,748,604 (GRCm39) Y312H probably damaging Het
Abcc10 A T 17: 46,633,185 (GRCm39) I549N probably damaging Het
Agpat2 A G 2: 26,486,395 (GRCm39) Y134H probably damaging Het
Alms1 A G 6: 85,596,425 (GRCm39) D417G probably benign Het
Apol11b T A 15: 77,519,475 (GRCm39) I202F probably benign Het
Arap1 C A 7: 101,037,376 (GRCm39) Q468K probably benign Het
Arhgef4 T C 1: 34,832,445 (GRCm39) probably null Het
Asap3 A T 4: 135,961,914 (GRCm39) N285I probably damaging Het
Aspm A T 1: 139,408,375 (GRCm39) I2421F probably damaging Het
Banp C A 8: 122,701,285 (GRCm39) D17E probably benign Het
Bsx T G 9: 40,788,905 (GRCm39) V154G probably damaging Het
Cacnb1 T C 11: 97,900,186 (GRCm39) D324G probably damaging Het
Ccdc170 A T 10: 4,483,957 (GRCm39) probably null Het
Ccdc187 T C 2: 26,171,227 (GRCm39) H417R probably benign Het
Cct4 T A 11: 22,949,070 (GRCm39) M272K probably damaging Het
Chd9 A G 8: 91,760,417 (GRCm39) E2054G possibly damaging Het
Ctnnal1 A T 4: 56,844,584 (GRCm39) S127T possibly damaging Het
Cyp4a29 T A 4: 115,108,380 (GRCm39) M368K probably damaging Het
Dhx32 A G 7: 133,326,267 (GRCm39) F527L probably benign Het
Foxk1 T C 5: 142,387,739 (GRCm39) V154A probably damaging Het
Frem3 G A 8: 81,339,890 (GRCm39) E728K probably benign Het
Garem2 C A 5: 30,319,747 (GRCm39) A403E probably benign Het
Gemin5 G A 11: 58,020,846 (GRCm39) Q1114* probably null Het
Gm11567 C T 11: 99,770,274 (GRCm39) R71C unknown Het
Gm13272 T C 4: 88,698,442 (GRCm39) V119A probably benign Het
Gpc6 T A 14: 117,163,435 (GRCm39) C30S probably damaging Het
Gprc6a A C 10: 51,491,395 (GRCm39) F785V probably damaging Het
Hormad1 T C 3: 95,494,693 (GRCm39) V368A probably benign Het
Hsd17b4 G A 18: 50,324,907 (GRCm39) probably null Het
Idh2 TCCCAGG T 7: 79,748,079 (GRCm39) probably benign Het
Il17ra C T 6: 120,459,240 (GRCm39) S797F probably damaging Het
Jmjd6 A G 11: 116,733,438 (GRCm39) S80P probably benign Het
Klhdc2 T A 12: 69,346,995 (GRCm39) N53K probably benign Het
Klhl30 C T 1: 91,282,089 (GRCm39) P230L probably benign Het
Marchf1 C A 8: 66,729,339 (GRCm39) A46E probably benign Het
Mast4 T C 13: 102,890,705 (GRCm39) T1050A probably benign Het
Mpp7 T C 18: 7,355,049 (GRCm39) N459S probably benign Het
Mtfr1l A G 4: 134,258,063 (GRCm39) V53A probably benign Het
Myh11 T A 16: 14,025,992 (GRCm39) E1326V Het
Myh3 A G 11: 66,992,005 (GRCm39) E1850G probably damaging Het
Myo16 A G 8: 10,619,925 (GRCm39) D1492G unknown Het
Myo3b C A 2: 70,180,287 (GRCm39) H1219Q probably benign Het
Nphp4 A T 4: 152,646,605 (GRCm39) Q1379L probably null Het
Or8g30 C T 9: 39,230,815 (GRCm39) V32I probably benign Het
Or9q1 A G 19: 13,804,914 (GRCm39) I282T probably benign Het
Osbpl6 T G 2: 76,385,361 (GRCm39) L265R probably damaging Het
Pld4 A G 12: 112,734,862 (GRCm39) T440A probably damaging Het
Prr14 T C 7: 127,071,128 (GRCm39) M1T probably null Het
Ptger4 A T 15: 5,273,178 (GRCm39) M1K probably null Het
Ptpn22 A T 3: 103,795,842 (GRCm39) T608S possibly damaging Het
S1pr2 A G 9: 20,879,319 (GRCm39) W170R probably damaging Het
Specc1l A G 10: 75,066,603 (GRCm39) I17M probably benign Het
Spmap1 T A 11: 97,666,594 (GRCm39) I31F probably benign Het
Sptbn4 C G 7: 27,071,662 (GRCm39) G1601R probably damaging Het
Sqor C T 2: 122,626,912 (GRCm39) P11L probably benign Het
Stac2 T C 11: 97,934,449 (GRCm39) D85G probably benign Het
Svs5 G A 2: 164,078,918 (GRCm39) Q330* probably null Het
Taar7e A G 10: 23,913,554 (GRCm39) I15V probably benign Het
Tcf4 A T 18: 69,770,007 (GRCm39) Y275F probably damaging Het
Tenm4 A G 7: 96,538,046 (GRCm39) N1873S probably damaging Het
Tert T A 13: 73,775,648 (GRCm39) V133D probably benign Het
Tfap2a T A 13: 40,870,658 (GRCm39) N410I probably damaging Het
Tjp3 A T 10: 81,109,694 (GRCm39) D836E probably benign Het
Tox3 A T 8: 90,975,206 (GRCm39) M475K unknown Het
Traf4 A T 11: 78,050,979 (GRCm39) D392E probably damaging Het
Vav2 A G 2: 27,181,825 (GRCm39) L338P probably damaging Het
Vmn1r81 T C 7: 11,994,113 (GRCm39) N165S probably benign Het
Vmn2r9 A T 5: 108,995,409 (GRCm39) V413E probably damaging Het
Wdr7 A T 18: 63,911,059 (GRCm39) D817V probably damaging Het
Zbtb38 G A 9: 96,570,700 (GRCm39) S128L probably damaging Het
Zfhx4 T A 3: 5,464,922 (GRCm39) H1718Q probably damaging Het
Zfp945 G A 17: 23,071,228 (GRCm39) H245Y 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
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
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'- TGAATTTTAGGATGTGGCTCCC -3'
(R):5'- TATTCACATCTCTTGGTATAGGGCTG -3'

Sequencing Primer
(F):5'- CAGCATCCTGTTGTAAAGTCAC -3'
(R):5'- GCACTGGATGACTTTATGAGTTAC -3'
Posted On 2022-11-14