Incidental Mutation 'IGL02696:Cttnbp2'
ID 303950
Institutional Source Australian Phenomics Network (link to record)
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 # IGL02696
Quality Score
Status
Chromosome 6
Chromosomal Location 18366477-18514842 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 18434128 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Proline to Serine at position 577 (P577S)
Ref Sequence ENSEMBL: ENSMUSP00000118432 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000090601] [ENSMUST00000129669] [ENSMUST00000148602]
AlphaFold B9EJA2
Predicted Effect probably benign
Transcript: ENSMUST00000090601
AA Change: P577S

PolyPhen 2 Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)
SMART Domains Protein: ENSMUSP00000088089
Gene: ENSMUSG00000000416
AA Change: P577S

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 benign
Transcript: ENSMUST00000129669
SMART Domains Protein: ENSMUSP00000116878
Gene: ENSMUSG00000000416

DomainStartEndE-ValueType
Pfam:CortBP2 1 100 4.6e-44 PFAM
Pfam:CortBP2 92 138 3.2e-13 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000139557
Predicted Effect probably benign
Transcript: ENSMUST00000146775
AA Change: P108S

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
SMART Domains Protein: ENSMUSP00000119383
Gene: ENSMUSG00000000416
AA Change: P108S

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
AA Change: P577S

PolyPhen 2 Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)
SMART Domains Protein: ENSMUSP00000118432
Gene: ENSMUSG00000000416
AA Change: P577S

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: ENSMUST00000202396
Coding Region Coverage
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: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Actr8 A G 14: 29,704,628 (GRCm39) T43A probably benign Het
Adgrd1 T C 5: 129,217,918 (GRCm39) probably benign Het
Asxl1 T A 2: 153,242,115 (GRCm39) Y888* probably null Het
Atp8b5 T C 4: 43,369,634 (GRCm39) V924A possibly damaging Het
AU040320 T C 4: 126,736,380 (GRCm39) L821P probably damaging Het
Capn11 T C 17: 45,943,635 (GRCm39) N596S probably damaging Het
Cnot1 C A 8: 96,471,645 (GRCm39) V1219F probably benign Het
Cope T C 8: 70,763,143 (GRCm39) probably null Het
Crim1 A G 17: 78,587,402 (GRCm39) E169G probably damaging Het
Csmd3 A T 15: 47,533,065 (GRCm39) F2395I probably benign Het
Ctso A C 3: 81,858,691 (GRCm39) D220A possibly damaging Het
D930048N14Rik T A 11: 51,544,821 (GRCm39) probably benign Het
Dck T A 5: 88,920,666 (GRCm39) S129T probably damaging Het
Dlc1 A G 8: 37,041,326 (GRCm39) V1301A possibly damaging Het
Dusp16 G A 6: 134,695,398 (GRCm39) R478C probably damaging Het
Ermap C T 4: 119,044,904 (GRCm39) R49K possibly damaging Het
Flnc A G 6: 29,446,697 (GRCm39) K969R probably damaging Het
Gjb2 A T 14: 57,337,769 (GRCm39) F146L probably damaging Het
Hdc A T 2: 126,436,220 (GRCm39) D550E probably damaging Het
Hs6st3 A T 14: 120,106,731 (GRCm39) I380F probably damaging Het
Htr1d T C 4: 136,170,722 (GRCm39) V317A probably benign Het
Kalrn A T 16: 34,040,484 (GRCm39) M963K probably damaging Het
Kl T A 5: 150,904,450 (GRCm39) S401T probably benign Het
Lair1 A G 7: 4,013,848 (GRCm39) probably benign Het
Lrp5 C T 19: 3,652,253 (GRCm39) V1206I probably benign Het
Matn4 A G 2: 164,238,758 (GRCm39) F343S probably benign Het
Mrgpra4 G T 7: 47,631,251 (GRCm39) R117S possibly damaging Het
Myh14 T C 7: 44,314,530 (GRCm39) Y131C probably damaging Het
Nap1l4 A T 7: 143,077,898 (GRCm39) N345K possibly damaging Het
Oas1c T C 5: 120,943,528 (GRCm39) R204G probably benign Het
Or52e4 A G 7: 104,705,569 (GRCm39) T39A probably benign Het
Or8k25 T A 2: 86,243,959 (GRCm39) T146S probably benign Het
Pakap T A 4: 57,854,663 (GRCm39) D58E probably damaging Het
Pin1 G A 9: 20,574,531 (GRCm39) G150E probably benign Het
R3hdm2 T C 10: 127,300,888 (GRCm39) probably null Het
Rai1 C A 11: 60,084,782 (GRCm39) H1843Q probably benign Het
Siae G T 9: 37,542,680 (GRCm39) A194S probably damaging Het
Slc6a12 G T 6: 121,340,211 (GRCm39) V485L probably benign Het
Stil T G 4: 114,898,692 (GRCm39) S1107R probably damaging Het
Syt16 T C 12: 74,176,185 (GRCm39) V18A possibly damaging Het
Trpm8 A G 1: 88,275,773 (GRCm39) D457G probably damaging Het
Tshr A T 12: 91,460,103 (GRCm39) T66S possibly damaging Het
Ttn T A 2: 76,537,639 (GRCm39) Q34763L probably benign Het
Ubr2 T A 17: 47,274,691 (GRCm39) M830L probably benign Het
Ulk1 A G 5: 110,940,918 (GRCm39) F337S probably 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
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
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
Posted On 2015-04-16