Incidental Mutation 'IGL02111:Cntnap5a'
ID280168
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Cntnap5a
Ensembl Gene ENSMUSG00000070695
Gene Namecontactin associated protein-like 5A
SynonymsCaspr5-1
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL02111
Quality Score
Status
Chromosome1
Chromosomal Location115684756-116587323 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to A at 116089352 bp
ZygosityHeterozygous
Amino Acid Change Arginine to Histidine at position 225 (R225H)
Ref Sequence ENSEMBL: ENSMUSP00000035732 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000043725]
Predicted Effect probably benign
Transcript: ENSMUST00000043725
AA Change: R225H

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000035732
Gene: ENSMUSG00000070695
AA Change: R225H

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: 60 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9530077C05Rik T C 9: 22,424,179 I31T probably benign Het
Adgrg3 G A 8: 95,034,999 R130Q probably damaging Het
Adipor2 A T 6: 119,370,196 L42* probably null Het
Ankrd45 A G 1: 161,163,351 K259E probably damaging Het
Apoc3 T C 9: 46,234,474 K79R possibly damaging Het
Arhgap40 T C 2: 158,539,844 Y416H probably damaging Het
Armc5 A G 7: 128,244,083 T683A probably benign Het
Bora T C 14: 99,047,377 V21A probably damaging Het
Cacna1b C T 2: 24,606,991 S2189N probably damaging Het
Cct2 G A 10: 117,053,112 T57I probably damaging Het
Cd200r1 A T 16: 44,788,781 N34Y probably damaging Het
Cd300ld2 T A 11: 115,012,393 probably benign Het
Cntnap5c A T 17: 58,102,108 D447V probably damaging Het
Cpne7 T C 8: 123,125,653 probably benign Het
Dap3 G A 3: 88,929,418 T92I probably benign Het
Dnmbp A G 19: 43,867,555 L254P probably damaging Het
Egfem1 G A 3: 29,650,896 probably null Het
Fam120b T C 17: 15,402,585 L275P possibly damaging Het
Fam161a A T 11: 23,020,026 H68L probably benign Het
Fam193a A G 5: 34,410,657 E100G possibly damaging Het
Ftmt A T 18: 52,332,053 D147V possibly damaging Het
Gm10136 T C 19: 29,003,722 K41E probably benign Het
Gm10797 C T 10: 67,572,567 noncoding transcript Het
Hsf1 A G 15: 76,496,081 probably benign Het
Ipo8 A G 6: 148,799,780 V514A probably damaging Het
Itfg2 T C 6: 128,410,381 H422R probably benign Het
Lrp4 G T 2: 91,506,059 L1738F probably damaging Het
Mettl17 A G 14: 51,891,386 E371G probably damaging Het
Mfsd6 A T 1: 52,708,344 L454Q probably damaging Het
Myh10 A T 11: 68,790,112 E956V probably damaging Het
Ncoa1 A T 12: 4,274,944 M1K probably null Het
Olfr1163 T A 2: 88,071,227 N52Y probably benign Het
Olfr677 A G 7: 105,056,945 D233G probably benign Het
Olfr709-ps1 A C 7: 106,926,616 V281G probably damaging Het
Otop1 T A 5: 38,277,701 C89S probably benign Het
Pitrm1 G T 13: 6,573,145 R775L probably benign Het
Prpf19 A G 19: 10,905,094 T512A probably benign Het
Prpf4b T A 13: 34,883,961 S258T probably benign Het
Rhbdl2 T C 4: 123,822,837 Y196H probably damaging Het
Rnf187 T C 11: 58,937,180 D148G probably damaging Het
Sbds A G 5: 130,250,941 I74T probably damaging Het
Sec63 T C 10: 42,810,888 V468A probably damaging Het
Slc35b3 A T 13: 38,955,782 M23K probably damaging Het
Slc6a9 A T 4: 117,864,013 Y208F probably benign Het
Slfn8 A T 11: 83,004,498 L494Q probably damaging Het
Sorcs1 T G 19: 50,230,245 M600L probably benign Het
Supt7l T C 5: 31,515,678 probably null Het
Tecrl T A 5: 83,354,792 Q70L probably damaging Het
Tedc2 A T 17: 24,218,166 probably benign Het
Tespa1 A G 10: 130,355,484 D99G probably damaging Het
Tmem126b G T 7: 90,469,061 Q204K probably damaging Het
Tmem181c-ps A T 17: 6,620,367 noncoding transcript Het
Tmem184a G T 5: 139,813,101 T31K possibly damaging Het
Tmprss11e T A 5: 86,719,801 I137F possibly damaging Het
Tmprss13 C T 9: 45,336,105 T255I probably damaging Het
Top1mt G A 15: 75,665,706 probably benign Het
Treh C T 9: 44,682,961 T168I probably benign Het
Ttn A T 2: 76,767,328 I11420N probably benign Het
Zp2 T C 7: 120,132,418 K705E possibly damaging Het
Zw10 T C 9: 49,068,754 I395T probably damaging Het
Other mutations in Cntnap5a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00763:Cntnap5a APN 1 116117677 missense possibly damaging 0.48
IGL00929:Cntnap5a APN 1 116060274 splice site probably null
IGL00959:Cntnap5a APN 1 116184327 missense probably benign 0.00
IGL01721:Cntnap5a APN 1 116157637 missense probably benign
IGL02009:Cntnap5a APN 1 116157494 missense probably benign 0.15
IGL02198:Cntnap5a APN 1 116580532 missense probably benign
IGL02751:Cntnap5a APN 1 116184457 critical splice donor site probably null
IGL02752:Cntnap5a APN 1 116580531 missense probably benign 0.00
IGL02989:Cntnap5a APN 1 116412083 splice site probably benign
IGL03195:Cntnap5a APN 1 116157448 missense probably benign 0.00
PIT4142001:Cntnap5a UTSW 1 115684956 start gained probably benign
R0294:Cntnap5a UTSW 1 115915316 missense probably benign
R0377:Cntnap5a UTSW 1 116292529 missense probably benign 0.04
R0597:Cntnap5a UTSW 1 116184461 splice site probably benign
R0616:Cntnap5a UTSW 1 116580549 missense possibly damaging 0.80
R0725:Cntnap5a UTSW 1 116292476 missense probably benign 0.25
R0842:Cntnap5a UTSW 1 116442223 missense probably damaging 0.96
R1103:Cntnap5a UTSW 1 116580669 missense possibly damaging 0.81
R1265:Cntnap5a UTSW 1 116428518 missense possibly damaging 0.49
R1467:Cntnap5a UTSW 1 115685168 nonsense probably null
R1467:Cntnap5a UTSW 1 115685168 nonsense probably null
R1470:Cntnap5a UTSW 1 116259519 missense probably damaging 1.00
R1470:Cntnap5a UTSW 1 116259519 missense probably damaging 1.00
R1474:Cntnap5a UTSW 1 116442373 nonsense probably null
R1476:Cntnap5a UTSW 1 115901020 missense probably damaging 1.00
R1481:Cntnap5a UTSW 1 116117663 missense probably damaging 1.00
R1512:Cntnap5a UTSW 1 115900950 missense probably benign
R1526:Cntnap5a UTSW 1 116428477 missense probably benign
R1589:Cntnap5a UTSW 1 116060200 missense possibly damaging 0.77
R1603:Cntnap5a UTSW 1 116412101 missense possibly damaging 0.80
R1728:Cntnap5a UTSW 1 116455004 missense probably benign 0.00
R1728:Cntnap5a UTSW 1 116455101 missense probably benign 0.00
R1728:Cntnap5a UTSW 1 116455143 missense probably benign 0.01
R1729:Cntnap5a UTSW 1 116455004 missense probably benign 0.00
R1729:Cntnap5a UTSW 1 116455101 missense probably benign 0.00
R1729:Cntnap5a UTSW 1 116455143 missense probably benign 0.01
R1730:Cntnap5a UTSW 1 116455004 missense probably benign 0.00
R1730:Cntnap5a UTSW 1 116455101 missense probably benign 0.00
R1730:Cntnap5a UTSW 1 116455143 missense probably benign 0.01
R1739:Cntnap5a UTSW 1 116455004 missense probably benign 0.00
R1739:Cntnap5a UTSW 1 116455101 missense probably benign 0.00
R1739:Cntnap5a UTSW 1 116455143 missense probably benign 0.01
R1762:Cntnap5a UTSW 1 116455004 missense probably benign 0.00
R1762:Cntnap5a UTSW 1 116455101 missense probably benign 0.00
R1762:Cntnap5a UTSW 1 116455143 missense probably benign 0.01
R1783:Cntnap5a UTSW 1 116455004 missense probably benign 0.00
R1783:Cntnap5a UTSW 1 116455101 missense probably benign 0.00
R1783:Cntnap5a UTSW 1 116455143 missense probably benign 0.01
R1785:Cntnap5a UTSW 1 116455004 missense probably benign 0.00
R1785:Cntnap5a UTSW 1 116455101 missense probably benign 0.00
R1785:Cntnap5a UTSW 1 116455143 missense probably benign 0.01
R1816:Cntnap5a UTSW 1 116428888 missense probably benign 0.19
R1872:Cntnap5a UTSW 1 116089210 missense probably benign 0.02
R2095:Cntnap5a UTSW 1 116442260 missense probably damaging 1.00
R2113:Cntnap5a UTSW 1 116188365 missense probably damaging 0.98
R2144:Cntnap5a UTSW 1 116101710 missense probably benign 0.14
R2171:Cntnap5a UTSW 1 116188402 missense possibly damaging 0.95
R2219:Cntnap5a UTSW 1 116580639 missense possibly damaging 0.83
R2220:Cntnap5a UTSW 1 116580639 missense possibly damaging 0.83
R2571:Cntnap5a UTSW 1 116184362 missense probably damaging 1.00
R3019:Cntnap5a UTSW 1 116101569 missense probably benign
R3827:Cntnap5a UTSW 1 116117679 missense probably benign 0.14
R3870:Cntnap5a UTSW 1 116060249 missense probably damaging 1.00
R3871:Cntnap5a UTSW 1 116060249 missense probably damaging 1.00
R4041:Cntnap5a UTSW 1 116184399 missense probably benign 0.00
R4080:Cntnap5a UTSW 1 116101574 missense probably benign 0.01
R4260:Cntnap5a UTSW 1 116446595 missense probably benign 0.31
R4685:Cntnap5a UTSW 1 116446680 missense possibly damaging 0.69
R4781:Cntnap5a UTSW 1 116412201 missense possibly damaging 0.88
R4785:Cntnap5a UTSW 1 116101565 missense probably benign 0.00
R5057:Cntnap5a UTSW 1 115685213 missense probably benign 0.10
R5059:Cntnap5a UTSW 1 116428494 missense probably benign 0.44
R5101:Cntnap5a UTSW 1 116442296 missense probably benign 0.00
R5302:Cntnap5a UTSW 1 116157570 missense probably benign 0.15
R5451:Cntnap5a UTSW 1 115685143 missense probably benign
R5473:Cntnap5a UTSW 1 116089256 missense probably benign 0.12
R5886:Cntnap5a UTSW 1 116571672 critical splice donor site probably null
R6311:Cntnap5a UTSW 1 116412106 nonsense probably null
R6464:Cntnap5a UTSW 1 116184408 missense probably benign
R6497:Cntnap5a UTSW 1 116577897 missense probably damaging 1.00
R6781:Cntnap5a UTSW 1 116292397 missense probably benign 0.05
R7137:Cntnap5a UTSW 1 116089376 missense probably damaging 1.00
R7290:Cntnap5a UTSW 1 116221889 missense probably damaging 1.00
R7342:Cntnap5a UTSW 1 116060122 missense probably benign 0.00
R7367:Cntnap5a UTSW 1 116442295 missense probably benign 0.00
R7373:Cntnap5a UTSW 1 116580637 missense probably benign 0.20
R7426:Cntnap5a UTSW 1 116442380 missense probably benign 0.03
R7444:Cntnap5a UTSW 1 116292349 missense probably benign
R7582:Cntnap5a UTSW 1 116446632 missense probably damaging 1.00
R7745:Cntnap5a UTSW 1 116442283 missense probably benign
R7948:Cntnap5a UTSW 1 116580528 missense probably benign 0.01
R7995:Cntnap5a UTSW 1 116571547 missense probably damaging 0.99
R8041:Cntnap5a UTSW 1 116259479 missense probably damaging 0.99
Z1088:Cntnap5a UTSW 1 116060251 missense probably benign 0.08
Z1176:Cntnap5a UTSW 1 116428516 missense probably damaging 1.00
Z1177:Cntnap5a UTSW 1 116412168 missense probably benign 0.03
Posted On2015-04-16