Incidental Mutation 'IGL02850:Cntnap3'
ID361850
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 #IGL02850
Quality Score
Status
Chromosome13
Chromosomal Location64736182-64903955 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 64757409 bp
ZygosityHeterozygous
Amino Acid Change Threonine to Alanine at position 853 (T853A)
Ref Sequence ENSEMBL: ENSMUSP00000089140 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000091554]
Predicted Effect probably damaging
Transcript: ENSMUST00000091554
AA Change: T853A

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000089140
Gene: ENSMUSG00000033063
AA Change: T853A

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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000222618
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: 58 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrd1 A G 5: 129,115,055 D63G probably damaging Het
Ahnak A G 19: 9,002,596 T415A probably benign Het
Antxr2 A G 5: 98,004,078 V178A probably damaging Het
Ap1s1 A G 5: 137,041,780 Y127H possibly damaging Het
Bbs2 A T 8: 94,077,082 M510K probably benign Het
C130079G13Rik A G 3: 59,936,572 Y229C probably damaging Het
Cbfa2t2 A G 2: 154,535,170 N591S probably damaging Het
Chd6 T A 2: 161,019,616 R504* probably null Het
Cnpy3 A G 17: 46,743,291 probably benign Het
Cntn2 T G 1: 132,518,376 K824T probably benign Het
Cog4 G A 8: 110,866,589 G444D possibly damaging Het
Col18a1 A T 10: 77,096,466 I510N probably damaging Het
Cxcr5 G A 9: 44,514,106 R85W probably damaging Het
Cyth3 C A 5: 143,686,504 T58K probably damaging Het
Dio3 T C 12: 110,279,536 V102A probably damaging Het
Dmbx1 G A 4: 115,918,007 R359C probably damaging Het
Fras1 C A 5: 96,778,175 P3746Q probably damaging Het
Glt1d1 T A 5: 127,644,345 M32K probably benign Het
Hunk A G 16: 90,432,572 N31S probably damaging Het
Ints11 T C 4: 155,875,304 S123P probably benign Het
Izumo2 T C 7: 44,708,915 L58S probably damaging Het
Izumo4 A G 10: 80,704,198 probably benign Het
Kcnh7 T A 2: 62,787,685 K487* probably null Het
Lrp12 T C 15: 39,878,575 Y248C probably damaging Het
Map3k4 T C 17: 12,271,914 D210G probably damaging Het
Mast4 T C 13: 102,754,232 D1038G probably damaging Het
Noa1 T C 5: 77,294,491 T651A probably benign Het
Nop2 A C 6: 125,144,085 K610T possibly damaging Het
Nop2 G T 6: 125,144,070 G605V probably benign Het
Npvf G A 6: 50,652,690 R107W probably benign Het
Oit1 C T 14: 8,361,475 probably null Het
Olfr286 A G 15: 98,227,351 V98A probably benign Het
Olfr92 T C 17: 37,111,973 N3S probably benign Het
Oxr1 A G 15: 41,854,933 T775A probably damaging Het
P2ry13 C T 3: 59,209,608 A250T probably damaging Het
Pcsk9 A T 4: 106,458,865 V127E probably damaging Het
Piezo2 G A 18: 63,020,633 S2547F probably benign Het
Pinx1 A G 14: 63,919,160 T179A probably damaging Het
Pjvk T C 2: 76,658,451 V322A possibly damaging Het
Pla2r1 T A 2: 60,502,069 R476S probably benign Het
Polb A G 8: 22,648,261 probably benign Het
Polg2 C T 11: 106,768,467 D407N probably damaging Het
Pou5f2 G A 13: 78,025,059 R40Q probably benign Het
Sctr T C 1: 120,044,663 M193T possibly damaging Het
Sctr T A 1: 120,022,179 C33S probably damaging Het
Sema5b T C 16: 35,660,515 S819P probably benign Het
Setd1b C T 5: 123,148,589 T566I unknown Het
Sptbn4 G A 7: 27,426,833 R222C possibly damaging Het
Taf5l A G 8: 124,003,458 V129A possibly damaging Het
Tmem163 C T 1: 127,500,247 V201I probably benign Het
Tmem57 T C 4: 134,828,386 K259E probably benign Het
Ube3b T C 5: 114,406,249 L569P probably damaging Het
Vwa3a A G 7: 120,773,292 E301G probably benign Het
Wnk1 T C 6: 119,937,862 I1660V probably benign Het
Zbtb22 T A 17: 33,917,013 L44Q probably damaging Het
Zfp691 T C 4: 119,170,192 D281G probably damaging Het
Zfy2 C T Y: 2,106,894 G580D probably benign Het
Zfy2 T A Y: 2,117,188 H213L probably benign 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
IGL02127:Cntnap3 APN 13 64799064 splice site probably benign
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
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 On2015-12-18