Incidental Mutation 'IGL02752:Cntnap5a'
ID 304216
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Cntnap5a
Ensembl Gene ENSMUSG00000070695
Gene Name contactin associated protein-like 5A
Synonyms Caspr5-1
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL02752
Quality Score
Status
Chromosome 1
Chromosomal Location 115612486-116515053 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 116508261 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 1258 (T1258A)
Ref Sequence ENSEMBL: ENSMUSP00000035732 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000043725]
AlphaFold Q0V8T9
Predicted Effect probably benign
Transcript: ENSMUST00000043725
AA Change: T1258A

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000035732
Gene: ENSMUSG00000070695
AA Change: T1258A

DomainStartEndE-ValueType
signal peptide 1 24 N/A INTRINSIC
FA58C 33 174 1.63e-13 SMART
LamG 201 338 1.4e-26 SMART
LamG 388 522 1.5e-26 SMART
EGF 550 584 2.16e-1 SMART
Blast:FBG 587 772 2e-81 BLAST
LamG 812 939 1.54e-28 SMART
EGF 960 996 2.28e0 SMART
LamG 1037 1173 4.73e-15 SMART
transmembrane domain 1241 1263 N/A INTRINSIC
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 product belongs to the neurexin family, members of which function in the vertebrate nervous system as cell adhesion molecules and receptors. This protein, like other neurexin proteins, contains epidermal growth factor repeats and laminin G domains. In addition, it includes an F5/8 type C domain, discoidin/neuropilin- and fibrinogen-like domains, and thrombospondin N-terminal-like domains. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
5031439G07Rik C A 15: 84,840,042 (GRCm39) E145* probably null Het
Abca9 A G 11: 110,018,194 (GRCm39) F1142S probably damaging Het
Bod1l T C 5: 41,973,806 (GRCm39) T2503A possibly damaging Het
Bpi A G 2: 158,104,344 (GRCm39) D149G probably damaging Het
Col4a3 A G 1: 82,637,946 (GRCm39) D256G unknown Het
Cul5 T C 9: 53,546,278 (GRCm39) T338A probably damaging Het
Efs A G 14: 55,154,880 (GRCm39) V453A probably damaging Het
Fbxw19 T A 9: 109,323,709 (GRCm39) N89Y probably benign Het
Fbxw8 A G 5: 118,280,815 (GRCm39) F114S probably damaging Het
Flnb A G 14: 7,917,338 (GRCm38) I1606V probably benign Het
Gpr158 A G 2: 21,831,638 (GRCm39) T913A possibly damaging Het
Gtf2f1 A T 17: 57,316,682 (GRCm39) probably benign Het
Gtf2ird1 T A 5: 134,387,678 (GRCm39) *1059L probably null Het
Hmgb4 T C 4: 128,154,134 (GRCm39) K145E probably damaging Het
Igf2bp2 T A 16: 21,898,860 (GRCm39) M250L probably benign Het
Igkv14-111 A G 6: 68,233,561 (GRCm39) K21E probably benign Het
Il6st C T 13: 112,616,729 (GRCm39) T92I probably damaging Het
Jak3 G T 8: 72,135,595 (GRCm39) V581L possibly damaging Het
Kank2 C T 9: 21,706,329 (GRCm39) V230M probably damaging Het
Kif1a G A 1: 92,967,569 (GRCm39) A1123V possibly damaging Het
Kpna4 T A 3: 69,002,863 (GRCm39) R125* probably null Het
Mybpc3 A T 2: 90,962,982 (GRCm39) probably null Het
Ntn4 T C 10: 93,546,421 (GRCm39) V358A possibly damaging Het
Pacsin1 A T 17: 27,921,672 (GRCm39) probably null Het
Pcsk2 A G 2: 143,615,865 (GRCm39) N221S probably benign Het
Pik3cg A G 12: 32,254,262 (GRCm39) L575P probably damaging Het
Pkhd1 A T 1: 20,623,815 (GRCm39) V760E possibly damaging Het
Plxnc1 T C 10: 94,630,542 (GRCm39) probably null Het
Ppfia1 T C 7: 144,073,341 (GRCm39) T217A probably benign Het
Rictor A G 15: 6,816,852 (GRCm39) T1375A probably benign Het
Scn1a A G 2: 66,161,756 (GRCm39) I264T probably damaging Het
Sez6l2 T C 7: 126,552,905 (GRCm39) S164P probably damaging Het
Slc31a1 C T 4: 62,303,869 (GRCm39) probably benign Het
Slc45a1 T C 4: 150,722,478 (GRCm39) N469D probably benign Het
Slco1a5 T C 6: 142,208,438 (GRCm39) T76A probably benign Het
Srrm1 G A 4: 135,052,415 (GRCm39) P658L unknown Het
Stfa3 G A 16: 36,270,999 (GRCm39) T95I probably damaging Het
Stk11ip A C 1: 75,501,325 (GRCm39) probably null Het
Tcn2 C A 11: 3,876,158 (GRCm39) S90I possibly damaging Het
Traf1 A G 2: 34,848,020 (GRCm39) S25P probably benign Het
Ttn G T 2: 76,622,125 (GRCm39) probably benign Het
Wdfy4 A T 14: 32,798,283 (GRCm39) I2041N probably damaging Het
Zfp512b A T 2: 181,229,864 (GRCm39) D556E possibly damaging Het
Zfpm2 T A 15: 40,965,415 (GRCm39) D633E probably benign Het
Other mutations in Cntnap5a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00763:Cntnap5a APN 1 116,045,407 (GRCm39) missense possibly damaging 0.48
IGL00929:Cntnap5a APN 1 115,988,004 (GRCm39) splice site probably null
IGL00959:Cntnap5a APN 1 116,112,057 (GRCm39) missense probably benign 0.00
IGL01721:Cntnap5a APN 1 116,085,367 (GRCm39) missense probably benign
IGL02009:Cntnap5a APN 1 116,085,224 (GRCm39) missense probably benign 0.15
IGL02111:Cntnap5a APN 1 116,017,082 (GRCm39) missense probably benign 0.00
IGL02198:Cntnap5a APN 1 116,508,262 (GRCm39) missense probably benign
IGL02751:Cntnap5a APN 1 116,112,187 (GRCm39) critical splice donor site probably null
IGL02989:Cntnap5a APN 1 116,339,813 (GRCm39) splice site probably benign
IGL03195:Cntnap5a APN 1 116,085,178 (GRCm39) missense probably benign 0.00
PIT4142001:Cntnap5a UTSW 1 115,612,686 (GRCm39) start gained probably benign
R0294:Cntnap5a UTSW 1 115,843,046 (GRCm39) missense probably benign
R0377:Cntnap5a UTSW 1 116,220,259 (GRCm39) missense probably benign 0.04
R0597:Cntnap5a UTSW 1 116,112,191 (GRCm39) splice site probably benign
R0616:Cntnap5a UTSW 1 116,508,279 (GRCm39) missense possibly damaging 0.80
R0725:Cntnap5a UTSW 1 116,220,206 (GRCm39) missense probably benign 0.25
R0842:Cntnap5a UTSW 1 116,369,953 (GRCm39) missense probably damaging 0.96
R1103:Cntnap5a UTSW 1 116,508,399 (GRCm39) missense possibly damaging 0.81
R1265:Cntnap5a UTSW 1 116,356,248 (GRCm39) missense possibly damaging 0.49
R1467:Cntnap5a UTSW 1 115,612,898 (GRCm39) nonsense probably null
R1467:Cntnap5a UTSW 1 115,612,898 (GRCm39) nonsense probably null
R1470:Cntnap5a UTSW 1 116,187,249 (GRCm39) missense probably damaging 1.00
R1470:Cntnap5a UTSW 1 116,187,249 (GRCm39) missense probably damaging 1.00
R1474:Cntnap5a UTSW 1 116,370,103 (GRCm39) nonsense probably null
R1476:Cntnap5a UTSW 1 115,828,750 (GRCm39) missense probably damaging 1.00
R1481:Cntnap5a UTSW 1 116,045,393 (GRCm39) missense probably damaging 1.00
R1512:Cntnap5a UTSW 1 115,828,680 (GRCm39) missense probably benign
R1526:Cntnap5a UTSW 1 116,356,207 (GRCm39) missense probably benign
R1589:Cntnap5a UTSW 1 115,987,930 (GRCm39) missense possibly damaging 0.77
R1603:Cntnap5a UTSW 1 116,339,831 (GRCm39) missense possibly damaging 0.80
R1728:Cntnap5a UTSW 1 116,382,873 (GRCm39) missense probably benign 0.01
R1728:Cntnap5a UTSW 1 116,382,734 (GRCm39) missense probably benign 0.00
R1728:Cntnap5a UTSW 1 116,382,831 (GRCm39) missense probably benign 0.00
R1729:Cntnap5a UTSW 1 116,382,873 (GRCm39) missense probably benign 0.01
R1729:Cntnap5a UTSW 1 116,382,734 (GRCm39) missense probably benign 0.00
R1729:Cntnap5a UTSW 1 116,382,831 (GRCm39) missense probably benign 0.00
R1730:Cntnap5a UTSW 1 116,382,873 (GRCm39) missense probably benign 0.01
R1730:Cntnap5a UTSW 1 116,382,734 (GRCm39) missense probably benign 0.00
R1730:Cntnap5a UTSW 1 116,382,831 (GRCm39) missense probably benign 0.00
R1739:Cntnap5a UTSW 1 116,382,873 (GRCm39) missense probably benign 0.01
R1739:Cntnap5a UTSW 1 116,382,734 (GRCm39) missense probably benign 0.00
R1739:Cntnap5a UTSW 1 116,382,831 (GRCm39) missense probably benign 0.00
R1762:Cntnap5a UTSW 1 116,382,831 (GRCm39) missense probably benign 0.00
R1762:Cntnap5a UTSW 1 116,382,873 (GRCm39) missense probably benign 0.01
R1762:Cntnap5a UTSW 1 116,382,734 (GRCm39) missense probably benign 0.00
R1783:Cntnap5a UTSW 1 116,382,873 (GRCm39) missense probably benign 0.01
R1783:Cntnap5a UTSW 1 116,382,734 (GRCm39) missense probably benign 0.00
R1783:Cntnap5a UTSW 1 116,382,831 (GRCm39) missense probably benign 0.00
R1785:Cntnap5a UTSW 1 116,382,734 (GRCm39) missense probably benign 0.00
R1785:Cntnap5a UTSW 1 116,382,831 (GRCm39) missense probably benign 0.00
R1785:Cntnap5a UTSW 1 116,382,873 (GRCm39) missense probably benign 0.01
R1816:Cntnap5a UTSW 1 116,356,618 (GRCm39) missense probably benign 0.19
R1872:Cntnap5a UTSW 1 116,016,940 (GRCm39) missense probably benign 0.02
R2095:Cntnap5a UTSW 1 116,369,990 (GRCm39) missense probably damaging 1.00
R2113:Cntnap5a UTSW 1 116,116,095 (GRCm39) missense probably damaging 0.98
R2144:Cntnap5a UTSW 1 116,029,440 (GRCm39) missense probably benign 0.14
R2171:Cntnap5a UTSW 1 116,116,132 (GRCm39) missense possibly damaging 0.95
R2219:Cntnap5a UTSW 1 116,508,369 (GRCm39) missense possibly damaging 0.83
R2220:Cntnap5a UTSW 1 116,508,369 (GRCm39) missense possibly damaging 0.83
R2571:Cntnap5a UTSW 1 116,112,092 (GRCm39) missense probably damaging 1.00
R3019:Cntnap5a UTSW 1 116,029,299 (GRCm39) missense probably benign
R3827:Cntnap5a UTSW 1 116,045,409 (GRCm39) missense probably benign 0.14
R3870:Cntnap5a UTSW 1 115,987,979 (GRCm39) missense probably damaging 1.00
R3871:Cntnap5a UTSW 1 115,987,979 (GRCm39) missense probably damaging 1.00
R4041:Cntnap5a UTSW 1 116,112,129 (GRCm39) missense probably benign 0.00
R4080:Cntnap5a UTSW 1 116,029,304 (GRCm39) missense probably benign 0.01
R4260:Cntnap5a UTSW 1 116,374,325 (GRCm39) missense probably benign 0.31
R4685:Cntnap5a UTSW 1 116,374,410 (GRCm39) missense possibly damaging 0.69
R4781:Cntnap5a UTSW 1 116,339,931 (GRCm39) missense possibly damaging 0.88
R4785:Cntnap5a UTSW 1 116,029,295 (GRCm39) missense probably benign 0.00
R5057:Cntnap5a UTSW 1 115,612,943 (GRCm39) missense probably benign 0.10
R5059:Cntnap5a UTSW 1 116,356,224 (GRCm39) missense probably benign 0.44
R5101:Cntnap5a UTSW 1 116,370,026 (GRCm39) missense probably benign 0.00
R5302:Cntnap5a UTSW 1 116,085,300 (GRCm39) missense probably benign 0.15
R5451:Cntnap5a UTSW 1 115,612,873 (GRCm39) missense probably benign
R5473:Cntnap5a UTSW 1 116,016,986 (GRCm39) missense probably benign 0.12
R5886:Cntnap5a UTSW 1 116,499,402 (GRCm39) critical splice donor site probably null
R6311:Cntnap5a UTSW 1 116,339,836 (GRCm39) nonsense probably null
R6464:Cntnap5a UTSW 1 116,112,138 (GRCm39) missense probably benign
R6497:Cntnap5a UTSW 1 116,505,627 (GRCm39) missense probably damaging 1.00
R6781:Cntnap5a UTSW 1 116,220,127 (GRCm39) missense probably benign 0.05
R7137:Cntnap5a UTSW 1 116,017,106 (GRCm39) missense probably damaging 1.00
R7290:Cntnap5a UTSW 1 116,149,619 (GRCm39) missense probably damaging 1.00
R7342:Cntnap5a UTSW 1 115,987,852 (GRCm39) missense probably benign 0.00
R7367:Cntnap5a UTSW 1 116,370,025 (GRCm39) missense probably benign 0.00
R7373:Cntnap5a UTSW 1 116,508,367 (GRCm39) missense probably benign 0.20
R7426:Cntnap5a UTSW 1 116,370,110 (GRCm39) missense probably benign 0.03
R7444:Cntnap5a UTSW 1 116,220,079 (GRCm39) missense probably benign
R7582:Cntnap5a UTSW 1 116,374,362 (GRCm39) missense probably damaging 1.00
R7745:Cntnap5a UTSW 1 116,370,013 (GRCm39) missense probably benign
R7948:Cntnap5a UTSW 1 116,508,258 (GRCm39) missense probably benign 0.01
R7995:Cntnap5a UTSW 1 116,499,277 (GRCm39) missense probably damaging 0.99
R8041:Cntnap5a UTSW 1 116,187,209 (GRCm39) missense probably damaging 0.99
R8262:Cntnap5a UTSW 1 116,116,140 (GRCm39) missense possibly damaging 0.66
R8273:Cntnap5a UTSW 1 116,499,271 (GRCm39) missense probably damaging 1.00
R8320:Cntnap5a UTSW 1 116,374,466 (GRCm39) missense possibly damaging 0.62
R9242:Cntnap5a UTSW 1 116,220,109 (GRCm39) missense probably benign 0.06
R9470:Cntnap5a UTSW 1 116,374,344 (GRCm39) missense probably damaging 1.00
R9601:Cntnap5a UTSW 1 116,508,217 (GRCm39) missense probably damaging 0.96
R9616:Cntnap5a UTSW 1 116,029,323 (GRCm39) missense probably benign
R9623:Cntnap5a UTSW 1 116,369,985 (GRCm39) nonsense probably null
Z1088:Cntnap5a UTSW 1 115,987,981 (GRCm39) missense probably benign 0.08
Z1176:Cntnap5a UTSW 1 116,356,246 (GRCm39) missense probably damaging 1.00
Z1177:Cntnap5a UTSW 1 116,339,898 (GRCm39) missense probably benign 0.03
Z1188:Cntnap5a UTSW 1 116,445,935 (GRCm39) missense possibly damaging 0.70
Posted On 2015-04-16