Incidental Mutation 'IGL02198:Cntnap5a'
ID 284118
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 # IGL02198
Quality Score
Status
Chromosome 1
Chromosomal Location 115612486-116515053 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 116508262 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Isoleucine at position 1258 (T1258I)
Ref Sequence ENSEMBL: ENSMUSP00000035732 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000043725]
AlphaFold Q0V8T9
Predicted Effect probably benign
Transcript: ENSMUST00000043725
AA Change: T1258I

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000035732
Gene: ENSMUSG00000070695
AA Change: T1258I

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: 31 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adra1d A G 2: 131,388,412 (GRCm39) I381T probably damaging Het
Armt1 T A 10: 4,404,064 (GRCm39) F383Y possibly damaging Het
Cdca2 A G 14: 67,932,445 (GRCm39) V486A probably benign Het
Cep78 A G 19: 15,933,733 (GRCm39) L615S probably damaging Het
Clec2h C A 6: 128,650,979 (GRCm39) C86* probably null Het
Dhrs7c T A 11: 67,706,628 (GRCm39) M262K possibly damaging Het
Dmpk C A 7: 18,822,117 (GRCm39) F332L probably damaging Het
Dnaaf4 G A 9: 72,876,348 (GRCm39) V308I probably benign Het
Fap A G 2: 62,385,142 (GRCm39) F73L probably benign Het
Igsf10 A T 3: 59,233,399 (GRCm39) I1778N possibly damaging Het
Il6ra T C 3: 89,797,655 (GRCm39) T71A probably benign Het
Itpr2 C A 6: 146,224,725 (GRCm39) A1389S probably damaging Het
Mob3b T C 4: 35,083,983 (GRCm39) N69D probably damaging Het
Nr1h3 A G 2: 91,023,070 (GRCm39) W21R probably damaging Het
Or4f56 A T 2: 111,703,593 (GRCm39) N202K probably damaging Het
Ovca2 A G 11: 75,069,596 (GRCm39) V9A possibly damaging Het
Ovch2 T A 7: 107,394,041 (GRCm39) K137N probably damaging Het
Pabpc1l A G 2: 163,869,536 (GRCm39) N112S probably damaging Het
Plekho1 T A 3: 95,899,496 (GRCm39) N99I probably damaging Het
Recql5 A C 11: 115,785,499 (GRCm39) S666A probably benign Het
Scn3a G T 2: 65,338,833 (GRCm39) H615Q probably benign Het
Sel1l3 A G 5: 53,297,141 (GRCm39) probably benign Het
Slc38a2 A T 15: 96,590,258 (GRCm39) S328T probably damaging Het
Taok1 T C 11: 77,466,503 (GRCm39) probably benign Het
Tsnax T A 8: 125,759,451 (GRCm39) Y237* probably null Het
Ttn T A 2: 76,544,974 (GRCm39) K24382N probably damaging Het
Ugt1a9 T A 1: 87,999,165 (GRCm39) V205E possibly damaging Het
Unc80 C A 1: 66,569,145 (GRCm39) D933E possibly damaging Het
Vnn1 A T 10: 23,779,323 (GRCm39) T411S probably benign Het
Wdr27 C A 17: 15,128,860 (GRCm39) G531V possibly damaging Het
Zfp760 G T 17: 21,941,193 (GRCm39) V123L 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
IGL02751:Cntnap5a APN 1 116,112,187 (GRCm39) critical splice donor site probably null
IGL02752:Cntnap5a APN 1 116,508,261 (GRCm39) missense probably benign 0.00
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