Incidental Mutation 'R1988:Cntnap3'
ID 222896
Institutional Source Beutler Lab
Gene Symbol Cntnap3
Ensembl Gene ENSMUSG00000033063
Gene Name contactin associated protein-like 3
Synonyms
MMRRC Submission 040000-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.057) question?
Stock # R1988 (G1)
Quality Score 225
Status Validated
Chromosome 13
Chromosomal Location 64736182-64903955 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) T to C at 64758390 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 801 (T801A)
Ref Sequence ENSEMBL: ENSMUSP00000089140 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000091554]
AlphaFold E9PY62
Predicted Effect probably damaging
Transcript: ENSMUST00000091554
AA Change: T801A

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000089140
Gene: ENSMUSG00000033063
AA Change: T801A

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
Meta Mutation Damage Score 0.1198 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.4%
  • 10x: 96.6%
  • 20x: 93.1%
Validation Efficiency 96% (79/82)
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: 77 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700034J05Rik T A 6: 146,952,896 (GRCm38) D216V possibly damaging Het
2610021A01Rik C T 7: 41,626,657 (GRCm38) R595* probably null Het
Adgrl3 A G 5: 81,688,567 (GRCm38) D724G probably damaging Het
Akap6 T C 12: 53,140,795 (GRCm38) F1664S possibly damaging Het
Akt1 T C 12: 112,655,151 (GRCm38) I404V probably benign Het
Anxa13 T A 15: 58,341,948 (GRCm38) noncoding transcript Het
Atoh1 T C 6: 64,729,633 (GRCm38) V104A probably benign Het
Brwd1 T C 16: 96,021,237 (GRCm38) D1256G probably damaging Het
C9 ATTTT ATTT 15: 6,483,138 (GRCm38) probably null Het
Cd164 A G 10: 41,523,181 (GRCm38) T89A probably benign Het
Cep350 G C 1: 155,933,104 (GRCm38) N575K possibly damaging Het
Chrm5 A G 2: 112,480,252 (GRCm38) V173A probably damaging Het
Cnot1 A G 8: 95,741,944 (GRCm38) V1417A possibly damaging Het
Cntnap5b A C 1: 100,072,140 (GRCm38) K208Q possibly damaging Het
Crx A T 7: 15,869,347 (GRCm38) V107D possibly damaging Het
Csrnp2 A G 15: 100,489,440 (GRCm38) F49S probably damaging Het
Ctbp1 A G 5: 33,250,904 (GRCm38) L228P possibly damaging Het
Ctdp1 A T 18: 80,449,401 (GRCm38) D626E possibly damaging Het
Cyp1a2 T C 9: 57,682,286 (GRCm38) T82A possibly damaging Het
Dnah3 T G 7: 119,967,959 (GRCm38) D2348A probably damaging Het
Dnah3 T A 7: 119,967,570 (GRCm38) T2478S possibly damaging Het
Dnah5 T C 15: 28,343,591 (GRCm38) I2379T probably damaging Het
Dnah6 A G 6: 73,092,192 (GRCm38) I2504T probably damaging Het
Dnase1l2 A C 17: 24,441,651 (GRCm38) W138G probably damaging Het
Dop1b T A 16: 93,766,173 (GRCm38) I855N probably damaging Het
Dsc3 T A 18: 19,965,846 (GRCm38) N759Y possibly damaging Het
Dtx2 C T 5: 136,032,293 (GRCm38) R510* probably null Het
Fat4 G T 3: 38,887,115 (GRCm38) M52I probably benign Het
Fat4 G A 3: 38,996,090 (GRCm38) E4034K probably damaging Het
Fezf2 T C 14: 12,344,350 (GRCm38) K279R probably damaging Het
Fsip2 G T 2: 82,976,517 (GRCm38) W1060L possibly damaging Het
G6pc1 T A 11: 101,367,942 (GRCm38) I49N probably damaging Het
Gars1 A G 6: 55,077,772 (GRCm38) E688G probably null Het
Gdf11 T C 10: 128,885,242 (GRCm38) N361S probably benign Het
Gli3 A C 13: 15,726,380 (GRCm38) M1451L probably benign Het
Heatr3 T C 8: 88,150,317 (GRCm38) I329T probably benign Het
Herc3 T G 6: 58,884,975 (GRCm38) probably null Het
Hrnr A G 3: 93,332,604 (GRCm38) N3383S unknown Het
Igsf3 A T 3: 101,431,296 (GRCm38) I309F probably benign Het
Kif21b C T 1: 136,152,264 (GRCm38) R513W probably damaging Het
Kif7 G T 7: 79,699,241 (GRCm38) H1195Q probably benign Het
Lpcat4 T C 2: 112,242,542 (GRCm38) V182A possibly damaging Het
Map3k21 T A 8: 125,927,555 (GRCm38) I371N probably benign Het
Mns1 G A 9: 72,448,759 (GRCm38) probably null Het
Myo3a A G 2: 22,578,128 (GRCm38) T465A possibly damaging Het
Nlrc4 A T 17: 74,426,943 (GRCm38) S992T probably benign Het
Notch4 G A 17: 34,587,588 (GRCm38) G1833E possibly damaging Het
Or52ad1 T A 7: 103,346,109 (GRCm38) Y273F possibly damaging Het
Or52n2 T C 7: 104,892,903 (GRCm38) T242A probably damaging Het
Or5g29 G A 2: 85,590,641 (GRCm38) V34I probably benign Het
Or5p5 A T 7: 107,814,700 (GRCm38) I39L probably benign Het
Or8a1b A T 9: 37,711,697 (GRCm38) I194K possibly damaging Het
Pcdh9 G A 14: 93,888,305 (GRCm38) P143L probably damaging Het
Pik3cd T A 4: 149,663,203 (GRCm38) T28S probably damaging Het
Pkd1 G T 17: 24,576,592 (GRCm38) probably null Het
Plk4 A T 3: 40,805,817 (GRCm38) S383C possibly damaging Het
Plxna2 T C 1: 194,643,989 (GRCm38) L77P probably damaging Het
Ppm1f T C 16: 16,923,666 (GRCm38) S335P probably damaging Het
Prr16 C T 18: 51,303,277 (GRCm38) P276L probably damaging Het
Rilp A G 11: 75,510,933 (GRCm38) probably null Het
Rspry1 A G 8: 94,632,054 (GRCm38) probably null Het
Serpinb9b T C 13: 33,029,559 (GRCm38) V33A probably benign Het
Slc4a10 C A 2: 62,268,204 (GRCm38) Q561K probably damaging Het
Smyd5 T C 6: 85,438,136 (GRCm38) I42T possibly damaging Het
Stk17b T C 1: 53,761,082 (GRCm38) N246D probably damaging Het
Suco T C 1: 161,818,811 (GRCm38) probably null Het
Tecpr1 C T 5: 144,204,697 (GRCm38) V785M possibly damaging Het
Telo2 C T 17: 25,101,668 (GRCm38) V756I probably benign Het
Tgm1 C T 14: 55,705,577 (GRCm38) R602H probably benign Het
Timeless A G 10: 128,244,187 (GRCm38) T402A probably damaging Het
Tnfaip2 T A 12: 111,449,891 (GRCm38) probably null Het
Trgc3 C A 13: 19,260,994 (GRCm38) F37L probably damaging Het
Trim5 A G 7: 104,265,621 (GRCm38) S414P probably damaging Het
Txnip A G 3: 96,559,750 (GRCm38) T247A possibly damaging Het
Vmn1r174 A T 7: 23,754,625 (GRCm38) T239S probably damaging Het
Vmn1r231 T A 17: 20,889,950 (GRCm38) E234D probably damaging Het
Zranb3 A T 1: 127,959,743 (GRCm38) N982K probably benign Het
Other mutations in Cntnap3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00433:Cntnap3 APN 13 64,772,731 (GRCm38) missense probably damaging 1.00
IGL00782:Cntnap3 APN 13 64,745,805 (GRCm38) splice site probably benign
IGL00976:Cntnap3 APN 13 64,794,352 (GRCm38) missense probably damaging 1.00
IGL01319:Cntnap3 APN 13 64,787,837 (GRCm38) missense probably damaging 1.00
IGL01610:Cntnap3 APN 13 64,757,301 (GRCm38) missense probably damaging 0.98
IGL01861:Cntnap3 APN 13 64,799,108 (GRCm38) missense probably damaging 1.00
IGL02127:Cntnap3 APN 13 64,799,064 (GRCm38) splice site probably benign
IGL02133:Cntnap3 APN 13 64,751,673 (GRCm38) splice site probably benign
IGL02251:Cntnap3 APN 13 64,762,036 (GRCm38) missense probably damaging 1.00
IGL02272:Cntnap3 APN 13 64,757,411 (GRCm38) missense probably damaging 1.00
IGL02370:Cntnap3 APN 13 64,751,751 (GRCm38) missense probably benign
IGL02456:Cntnap3 APN 13 64,799,058 (GRCm38) splice site probably benign
IGL02589:Cntnap3 APN 13 64,792,430 (GRCm38) missense probably benign 0.08
IGL02695:Cntnap3 APN 13 64,772,132 (GRCm38) missense probably benign 0.01
IGL02850:Cntnap3 APN 13 64,757,409 (GRCm38) missense probably damaging 1.00
IGL03038:Cntnap3 APN 13 64,741,025 (GRCm38) missense possibly damaging 0.50
IGL03188:Cntnap3 APN 13 64,781,745 (GRCm38) missense probably damaging 0.97
IGL03327:Cntnap3 APN 13 64,887,768 (GRCm38) nonsense probably null
PIT4480001:Cntnap3 UTSW 13 64,757,210 (GRCm38) missense probably damaging 1.00
R0309:Cntnap3 UTSW 13 64,757,436 (GRCm38) splice site probably benign
R0422:Cntnap3 UTSW 13 64,757,285 (GRCm38) missense probably damaging 0.96
R0463:Cntnap3 UTSW 13 64,778,876 (GRCm38) missense probably damaging 1.00
R0491:Cntnap3 UTSW 13 64,762,045 (GRCm38) missense probably benign 0.01
R0499:Cntnap3 UTSW 13 64,858,678 (GRCm38) missense probably benign 0.33
R0550:Cntnap3 UTSW 13 64,762,000 (GRCm38) missense possibly damaging 0.86
R0613:Cntnap3 UTSW 13 64,758,414 (GRCm38) missense probably damaging 1.00
R0666:Cntnap3 UTSW 13 64,757,397 (GRCm38) missense probably damaging 1.00
R0840:Cntnap3 UTSW 13 64,787,910 (GRCm38) missense possibly damaging 0.94
R1577:Cntnap3 UTSW 13 64,758,290 (GRCm38) missense probably damaging 1.00
R1716:Cntnap3 UTSW 13 64,762,002 (GRCm38) missense probably damaging 1.00
R1732:Cntnap3 UTSW 13 64,740,812 (GRCm38) critical splice donor site probably null
R1739:Cntnap3 UTSW 13 64,740,592 (GRCm38) missense probably benign 0.17
R1905:Cntnap3 UTSW 13 64,903,764 (GRCm38) missense probably benign 0.04
R2086:Cntnap3 UTSW 13 64,794,262 (GRCm38) missense possibly damaging 0.76
R3732:Cntnap3 UTSW 13 64,740,999 (GRCm38) missense possibly damaging 0.73
R3808:Cntnap3 UTSW 13 64,781,804 (GRCm38) missense probably damaging 0.96
R3809:Cntnap3 UTSW 13 64,781,804 (GRCm38) missense probably damaging 0.96
R4384:Cntnap3 UTSW 13 64,748,460 (GRCm38) missense probably damaging 1.00
R4433:Cntnap3 UTSW 13 64,778,853 (GRCm38) missense possibly damaging 0.92
R4631:Cntnap3 UTSW 13 64,778,883 (GRCm38) missense probably benign 0.04
R4645:Cntnap3 UTSW 13 64,778,788 (GRCm38) critical splice donor site probably null
R4702:Cntnap3 UTSW 13 64,778,862 (GRCm38) missense probably benign 0.17
R4876:Cntnap3 UTSW 13 64,787,706 (GRCm38) missense probably benign 0.00
R4994:Cntnap3 UTSW 13 64,761,984 (GRCm38) missense possibly damaging 0.55
R5043:Cntnap3 UTSW 13 64,794,348 (GRCm38) missense probably damaging 1.00
R5214:Cntnap3 UTSW 13 64,762,010 (GRCm38) missense probably damaging 1.00
R5403:Cntnap3 UTSW 13 64,761,978 (GRCm38) missense possibly damaging 0.90
R5571:Cntnap3 UTSW 13 64,903,758 (GRCm38) missense probably damaging 0.98
R5587:Cntnap3 UTSW 13 64,746,738 (GRCm38) missense probably damaging 1.00
R5695:Cntnap3 UTSW 13 64,787,955 (GRCm38) missense probably damaging 0.99
R5834:Cntnap3 UTSW 13 64,748,577 (GRCm38) missense probably benign 0.07
R5892:Cntnap3 UTSW 13 64,799,180 (GRCm38) missense probably damaging 1.00
R5950:Cntnap3 UTSW 13 64,787,769 (GRCm38) missense probably damaging 1.00
R6526:Cntnap3 UTSW 13 64,781,888 (GRCm38) missense possibly damaging 0.96
R6954:Cntnap3 UTSW 13 64,748,559 (GRCm38) missense probably benign 0.00
R7138:Cntnap3 UTSW 13 64,781,725 (GRCm38) critical splice donor site probably null
R7355:Cntnap3 UTSW 13 64,771,962 (GRCm38) missense probably benign
R7425:Cntnap3 UTSW 13 64,758,252 (GRCm38) missense probably damaging 1.00
R7521:Cntnap3 UTSW 13 64,772,001 (GRCm38) missense probably benign 0.22
R7719:Cntnap3 UTSW 13 64,772,777 (GRCm38) nonsense probably null
R7810:Cntnap3 UTSW 13 64,793,308 (GRCm38) missense possibly damaging 0.73
R7871:Cntnap3 UTSW 13 64,903,773 (GRCm38) missense probably benign 0.00
R8259:Cntnap3 UTSW 13 64,787,867 (GRCm38) missense probably damaging 0.99
R8415:Cntnap3 UTSW 13 64,738,665 (GRCm38) missense probably benign 0.31
R8491:Cntnap3 UTSW 13 64,785,343 (GRCm38) missense probably damaging 1.00
R9086:Cntnap3 UTSW 13 64,781,759 (GRCm38) missense probably damaging 1.00
R9087:Cntnap3 UTSW 13 64,751,718 (GRCm38) missense probably damaging 0.96
R9398:Cntnap3 UTSW 13 64,903,834 (GRCm38) missense probably benign 0.41
R9475:Cntnap3 UTSW 13 64,799,135 (GRCm38) missense probably damaging 1.00
R9625:Cntnap3 UTSW 13 64,858,765 (GRCm38) missense probably damaging 1.00
R9679:Cntnap3 UTSW 13 64,751,748 (GRCm38) missense probably damaging 1.00
Z1176:Cntnap3 UTSW 13 64,792,388 (GRCm38) missense probably damaging 0.98
Z1176:Cntnap3 UTSW 13 64,740,872 (GRCm38) frame shift probably null
Z1177:Cntnap3 UTSW 13 64,781,892 (GRCm38) missense probably damaging 0.99
Predicted Primers PCR Primer
(F):5'- GAGTATCTCAAGACTCGGGTC -3'
(R):5'- GTTTCTTCTGAAAATCAAGACACCC -3'

Sequencing Primer
(F):5'- TATCTCAAGACTCGGGTCAGGATC -3'
(R):5'- TAGGTAAGTAGCCATACCCTCTG -3'
Posted On 2014-08-25