Incidental Mutation 'IGL02127:Cntnap3'
ID280935
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Cntnap3
Ensembl Gene ENSMUSG00000033063
Gene Namecontactin associated protein-like 3
Synonyms
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.052) question?
Stock #IGL02127
Quality Score
Status
Chromosome13
Chromosomal Location64736182-64903955 bp(-) (GRCm38)
Type of Mutationsplice site
DNA Base Change (assembly) T to C at 64799064 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000089140 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000091554]
Predicted Effect probably benign
Transcript: ENSMUST00000091554
SMART Domains Protein: ENSMUSP00000089140
Gene: ENSMUSG00000033063

DomainStartEndE-ValueType
signal peptide 1 28 N/A INTRINSIC
FA58C 33 180 4.88e-17 SMART
LamG 207 345 1.47e-11 SMART
LamG 394 525 1.43e-23 SMART
EGF 553 587 1.33e-1 SMART
FBG 590 775 6.76e-1 SMART
LamG 815 942 1.89e-32 SMART
EGF_like 963 999 6.28e1 SMART
LamG 1040 1178 9.46e-15 SMART
transmembrane domain 1245 1267 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.] The protein encoded by this gene belongs to the NCP family of cell-recognition molecules. This family represents a distinct subgroup of the neurexins. NCP proteins mediate neuron-glial interactions in vertebrates and glial-glial contact in invertebrates. The protein encoded by this gene may play a role in cell recognition within the nervous system. Alternatively spliced transcript variants encoding different isoforms have been described but their biological nature has not been determined. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Actn4 A T 7: 28,897,880 M661K probably benign Het
Arpin G A 7: 79,928,193 R163W probably benign Het
Atm C A 9: 53,487,983 D1573Y probably damaging Het
Avil A G 10: 127,011,826 N540S probably benign Het
Btnl6 T C 17: 34,514,043 Q282R probably benign Het
Cacna2d3 T C 14: 29,063,875 probably benign Het
Cd300ld4 T C 11: 115,022,719 N170S probably benign Het
Cgnl1 T A 9: 71,725,853 N72I probably damaging Het
Col27a1 A T 4: 63,225,142 T356S possibly damaging Het
Csgalnact1 C A 8: 68,401,492 G219V probably damaging Het
Cyp2c69 G T 19: 39,851,057 T374N probably damaging Het
Cyp2d26 T C 15: 82,791,106 E349G probably benign Het
Dnah1 T C 14: 31,304,928 E713G probably benign Het
Dnah7b A T 1: 46,139,875 T903S probably benign Het
Enthd1 T C 15: 80,452,742 D497G probably damaging Het
Grk4 C T 5: 34,710,186 T165I probably benign Het
Hmcn1 G A 1: 150,722,607 S1648L probably benign Het
Ints11 A G 4: 155,886,863 Y278C probably damaging Het
Kcnu1 T C 8: 25,892,062 L480P probably damaging Het
Kif1bp C T 10: 62,578,349 R10H probably benign Het
Kif5c G A 2: 49,701,110 probably null Het
Klhl35 T C 7: 99,471,681 probably benign Het
Lemd3 A T 10: 120,926,028 D807E possibly damaging Het
Lrrc37a G A 11: 103,504,539 T20I probably benign Het
Mab21l1 C T 3: 55,783,595 A201V probably benign Het
Mab21l2 T C 3: 86,546,817 D292G possibly damaging Het
Map3k21 T C 8: 125,942,147 L824P probably benign Het
Myo5a T C 9: 75,212,981 V1687A probably benign Het
Myo5c G T 9: 75,300,902 W1639C probably damaging Het
Nfya G T 17: 48,393,255 probably benign Het
Olfr1249 A G 2: 89,630,754 I48T probably damaging Het
Papolg A G 11: 23,870,870 probably benign Het
Pcdh8 G A 14: 79,769,246 R626C probably damaging Het
Pclo T C 5: 14,765,145 probably benign Het
Pogz T C 3: 94,874,703 probably benign Het
Polg G A 7: 79,458,167 probably benign Het
Scn9a A T 2: 66,494,826 I1317K probably damaging Het
Scn9a A G 2: 66,547,135 V401A probably damaging Het
St7 T A 6: 17,844,969 probably benign Het
Tdo2 C T 3: 81,958,925 V344M probably damaging Het
Trmt1 T C 8: 84,697,471 V400A probably damaging Het
Trrap A G 5: 144,816,433 N1856S probably benign Het
Ube3a G A 7: 59,276,041 G210D probably benign Het
Ubqln5 A G 7: 104,129,482 V45A probably damaging Het
Wdpcp T A 11: 21,711,958 M410K possibly damaging Het
Xpa G A 4: 46,185,606 T124M probably damaging Het
Zpbp2 A G 11: 98,555,541 E172G probably damaging Het
Other mutations in Cntnap3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00433:Cntnap3 APN 13 64772731 missense probably damaging 1.00
IGL00782:Cntnap3 APN 13 64745805 splice site probably benign
IGL00976:Cntnap3 APN 13 64794352 missense probably damaging 1.00
IGL01319:Cntnap3 APN 13 64787837 missense probably damaging 1.00
IGL01610:Cntnap3 APN 13 64757301 missense probably damaging 0.98
IGL01861:Cntnap3 APN 13 64799108 missense probably damaging 1.00
IGL02133:Cntnap3 APN 13 64751673 splice site probably benign
IGL02251:Cntnap3 APN 13 64762036 missense probably damaging 1.00
IGL02272:Cntnap3 APN 13 64757411 missense probably damaging 1.00
IGL02370:Cntnap3 APN 13 64751751 missense probably benign
IGL02456:Cntnap3 APN 13 64799058 splice site probably benign
IGL02589:Cntnap3 APN 13 64792430 missense probably benign 0.08
IGL02695:Cntnap3 APN 13 64772132 missense probably benign 0.01
IGL02850:Cntnap3 APN 13 64757409 missense probably damaging 1.00
IGL03038:Cntnap3 APN 13 64741025 missense possibly damaging 0.50
IGL03188:Cntnap3 APN 13 64781745 missense probably damaging 0.97
IGL03327:Cntnap3 APN 13 64887768 nonsense probably null
PIT4480001:Cntnap3 UTSW 13 64757210 missense probably damaging 1.00
R0309:Cntnap3 UTSW 13 64757436 splice site probably benign
R0422:Cntnap3 UTSW 13 64757285 missense probably damaging 0.96
R0463:Cntnap3 UTSW 13 64778876 missense probably damaging 1.00
R0491:Cntnap3 UTSW 13 64762045 missense probably benign 0.01
R0499:Cntnap3 UTSW 13 64858678 missense probably benign 0.33
R0550:Cntnap3 UTSW 13 64762000 missense possibly damaging 0.86
R0613:Cntnap3 UTSW 13 64758414 missense probably damaging 1.00
R0666:Cntnap3 UTSW 13 64757397 missense probably damaging 1.00
R0840:Cntnap3 UTSW 13 64787910 missense possibly damaging 0.94
R1577:Cntnap3 UTSW 13 64758290 missense probably damaging 1.00
R1716:Cntnap3 UTSW 13 64762002 missense probably damaging 1.00
R1732:Cntnap3 UTSW 13 64740812 critical splice donor site probably null
R1739:Cntnap3 UTSW 13 64740592 missense probably benign 0.17
R1905:Cntnap3 UTSW 13 64903764 missense probably benign 0.04
R1988:Cntnap3 UTSW 13 64758390 missense probably damaging 1.00
R2086:Cntnap3 UTSW 13 64794262 missense possibly damaging 0.76
R3732:Cntnap3 UTSW 13 64740999 missense possibly damaging 0.73
R3808:Cntnap3 UTSW 13 64781804 missense probably damaging 0.96
R3809:Cntnap3 UTSW 13 64781804 missense probably damaging 0.96
R4384:Cntnap3 UTSW 13 64748460 missense probably damaging 1.00
R4433:Cntnap3 UTSW 13 64778853 missense possibly damaging 0.92
R4631:Cntnap3 UTSW 13 64778883 missense probably benign 0.04
R4645:Cntnap3 UTSW 13 64778788 critical splice donor site probably null
R4702:Cntnap3 UTSW 13 64778862 missense probably benign 0.17
R4876:Cntnap3 UTSW 13 64787706 missense probably benign 0.00
R4994:Cntnap3 UTSW 13 64761984 missense possibly damaging 0.55
R5043:Cntnap3 UTSW 13 64794348 missense probably damaging 1.00
R5214:Cntnap3 UTSW 13 64762010 missense probably damaging 1.00
R5403:Cntnap3 UTSW 13 64761978 missense possibly damaging 0.90
R5571:Cntnap3 UTSW 13 64903758 missense probably damaging 0.98
R5587:Cntnap3 UTSW 13 64746738 missense probably damaging 1.00
R5695:Cntnap3 UTSW 13 64787955 missense probably damaging 0.99
R5834:Cntnap3 UTSW 13 64748577 missense probably benign 0.07
R5892:Cntnap3 UTSW 13 64799180 missense probably damaging 1.00
R5950:Cntnap3 UTSW 13 64787769 missense probably damaging 1.00
R6526:Cntnap3 UTSW 13 64781888 missense possibly damaging 0.96
R6954:Cntnap3 UTSW 13 64748559 missense probably benign 0.00
R7138:Cntnap3 UTSW 13 64781725 critical splice donor site probably null
R7355:Cntnap3 UTSW 13 64771962 missense probably benign
R7425:Cntnap3 UTSW 13 64758252 missense probably damaging 1.00
R7521:Cntnap3 UTSW 13 64772001 missense probably benign 0.22
R7719:Cntnap3 UTSW 13 64772777 nonsense probably null
R7810:Cntnap3 UTSW 13 64793308 missense possibly damaging 0.73
R7871:Cntnap3 UTSW 13 64903773 missense probably benign 0.00
R8259:Cntnap3 UTSW 13 64787867 missense probably damaging 0.99
R8415:Cntnap3 UTSW 13 64738665 missense probably benign 0.31
Z1176:Cntnap3 UTSW 13 64740872 frame shift probably null
Z1176:Cntnap3 UTSW 13 64792388 missense probably damaging 0.98
Z1177:Cntnap3 UTSW 13 64781892 missense probably damaging 0.99
Posted On2015-04-16