Incidental Mutation 'R9689:Cntnap1'
ID 729061
Institutional Source Beutler Lab
Gene Symbol Cntnap1
Ensembl Gene ENSMUSG00000017167
Gene Name contactin associated protein-like 1
Synonyms Nrxn4, NCP1, Caspr, paranodin, p190, shm
MMRRC Submission
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.496) question?
Stock # R9689 (G1)
Quality Score 225.009
Status Not validated
Chromosome 11
Chromosomal Location 101065429-101081550 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 101072178 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Threonine at position 477 (I477T)
Ref Sequence ENSEMBL: ENSMUSP00000099398 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000103109]
AlphaFold O54991
Predicted Effect probably damaging
Transcript: ENSMUST00000103109
AA Change: I477T

PolyPhen 2 Score 0.977 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000099398
Gene: ENSMUSG00000017167
AA Change: I477T

DomainStartEndE-ValueType
signal peptide 1 20 N/A INTRINSIC
FA58C 25 169 7.49e-36 SMART
LamG 196 333 2.86e-32 SMART
LamG 382 516 3.49e-27 SMART
EGF 544 578 2.28e0 SMART
Blast:FBG 580 777 1e-133 BLAST
LamG 806 940 1.95e-25 SMART
EGF_like 961 997 6.03e1 SMART
low complexity region 1032 1044 N/A INTRINSIC
low complexity region 1047 1058 N/A INTRINSIC
low complexity region 1063 1078 N/A INTRINSIC
LamG 1081 1219 2.59e-30 SMART
4.1m 1305 1323 7.85e-7 SMART
low complexity region 1333 1370 N/A INTRINSIC
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.5%
  • 20x: 98.6%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The gene product was initially identified as a 190-kD protein associated with the contactin-PTPRZ1 complex. The 1,384-amino acid protein, also designated p190 or CASPR for 'contactin-associated protein,' includes an extracellular domain with several putative protein-protein interaction domains, a putative transmembrane domain, and a 74-amino acid cytoplasmic domain. Northern blot analysis showed that the gene is transcribed predominantly in brain as a transcript of 6.2 kb, with weak expression in several other tissues tested. The architecture of its extracellular domain is similar to that of neurexins, and this protein may be the signaling subunit of contactin, enabling recruitment and activation of intracellular signaling pathways in neurons. [provided by RefSeq, Jan 2009]
PHENOTYPE: Homozygous mutant mice exhibit reduced body size and nervous system defects, including impaired balance, hypoactivity, and ataxia. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 65 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrl3 T A 5: 81,942,780 (GRCm39) V1538E probably damaging Het
Ank1 T C 8: 23,631,253 (GRCm39) V1833A probably benign Het
Apc2 G A 10: 80,150,733 (GRCm39) R1929Q probably damaging Het
Asb1 A G 1: 91,474,708 (GRCm39) I85V probably damaging Het
Bco2 A T 9: 50,445,938 (GRCm39) I486K probably damaging Het
Braf T A 6: 39,591,084 (GRCm39) I792F probably damaging Het
Cacng2 T C 15: 77,879,399 (GRCm39) K308E possibly damaging Het
Ccr6 G T 17: 8,475,821 (GRCm39) R342L possibly damaging Het
Cdh16 T A 8: 105,341,108 (GRCm39) I802F probably benign Het
Cftr T C 6: 18,313,649 (GRCm39) I1291T probably damaging Het
CN725425 T A 15: 91,120,030 (GRCm39) D50E possibly damaging Het
Cnga1 T C 5: 72,762,170 (GRCm39) Y448C probably benign Het
Col18a1 G A 10: 76,916,578 (GRCm39) Q366* probably null Het
Csf3 C A 11: 98,592,949 (GRCm39) A104D probably benign Het
Dmbt1 A G 7: 130,660,015 (GRCm39) H422R unknown Het
Dnah12 A G 14: 26,590,871 (GRCm39) D3325G probably null Het
Dnah17 T C 11: 117,963,731 (GRCm39) D2514G probably damaging Het
Fgf9 T A 14: 58,310,680 (GRCm39) H56Q probably damaging Het
Fgfr3 A T 5: 33,892,248 (GRCm39) Y689F probably damaging Het
Fhip2a G A 19: 57,369,710 (GRCm39) V418I probably benign Het
Gar1 A T 3: 129,624,269 (GRCm39) D74E probably damaging Het
Helq T C 5: 100,934,927 (GRCm39) K488E possibly damaging Het
Hmg20a A G 9: 56,381,823 (GRCm39) H33R possibly damaging Het
Igsf10 T C 3: 59,233,624 (GRCm39) D1703G probably damaging Het
Jph3 A T 8: 122,480,377 (GRCm39) I352F probably benign Het
Kng1 T C 16: 22,879,224 (GRCm39) F96S probably damaging Het
Krtap5-2 C A 7: 141,729,029 (GRCm39) S217I unknown Het
Lamp3 T C 16: 19,518,455 (GRCm39) S261G possibly damaging Het
Macf1 A G 4: 123,365,654 (GRCm39) F3036L probably benign Het
Map4k4 G A 1: 40,058,722 (GRCm39) R972H possibly damaging Het
Mccc1 C T 3: 36,030,903 (GRCm39) D388N probably benign Het
Mcoln1 T A 8: 3,557,436 (GRCm39) Y147* probably null Het
Mei1 T C 15: 81,997,129 (GRCm39) S622P Het
Ms4a5 T C 19: 11,254,058 (GRCm39) I136M possibly damaging Het
Nav3 A G 10: 109,605,034 (GRCm39) L1013P probably damaging Het
Ndrg2 T C 14: 52,146,071 (GRCm39) N170S probably damaging Het
Ndufa12 G A 10: 94,035,832 (GRCm39) G40D probably damaging Het
Ogdhl T A 14: 32,059,523 (GRCm39) V390E probably damaging Het
Or10ak12 A C 4: 118,666,999 (GRCm39) S21A probably benign Het
Or1e26 T C 11: 73,479,686 (GRCm39) R293G probably damaging Het
Or4d10 A T 19: 12,051,567 (GRCm39) I143K possibly damaging Het
Or4f6 T A 2: 111,839,124 (GRCm39) M136L probably benign Het
Or8g37 A T 9: 39,731,801 (GRCm39) I289F possibly damaging Het
Osgin1 A G 8: 120,172,247 (GRCm39) D347G possibly damaging Het
Oxct2a A T 4: 123,216,687 (GRCm39) N231K probably damaging Het
Pak6 C T 2: 118,520,243 (GRCm39) T78M probably benign Het
Pde4dip T C 3: 97,649,841 (GRCm39) Y1006C probably damaging Het
Psg18 A G 7: 18,084,880 (GRCm39) I193T probably benign Het
Psmd2 C A 16: 20,479,173 (GRCm39) H677Q probably benign Het
Resf1 T A 6: 149,229,766 (GRCm39) C937* probably null Het
Scaf11 C T 15: 96,316,195 (GRCm39) R1123H probably damaging Het
Setx A T 2: 29,051,555 (GRCm39) S2036C probably damaging Het
Skint6 A G 4: 113,093,546 (GRCm39) F199S probably damaging Het
Slc3a2 A T 19: 8,686,594 (GRCm39) S367R probably damaging Het
Spidr T C 16: 15,871,304 (GRCm39) D222G probably damaging Het
Styxl1 T C 5: 135,799,190 (GRCm39) E8G probably null Het
Sycp2l T A 13: 41,295,256 (GRCm39) F308I probably damaging Het
Syk A C 13: 52,778,808 (GRCm39) K298T probably benign Het
Tcp11 T A 17: 28,286,028 (GRCm39) Q529L possibly damaging Het
Tgfbi A G 13: 56,762,100 (GRCm39) Y61C probably damaging Het
Tlr9 G A 9: 106,100,721 (GRCm39) R4H probably benign Het
Top2a A C 11: 98,914,883 (GRCm39) S4A probably benign Het
Ttc4 G T 4: 106,528,919 (GRCm39) H166N probably benign Het
Ube2o C A 11: 116,435,639 (GRCm39) R383L possibly damaging Het
Umod A G 7: 119,076,517 (GRCm39) V83A possibly damaging Het
Other mutations in Cntnap1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00684:Cntnap1 APN 11 101,075,918 (GRCm39) missense possibly damaging 0.63
IGL00715:Cntnap1 APN 11 101,074,031 (GRCm39) splice site probably benign
IGL00792:Cntnap1 APN 11 101,069,792 (GRCm39) missense probably benign 0.19
IGL01063:Cntnap1 APN 11 101,072,614 (GRCm39) missense probably benign 0.00
IGL01141:Cntnap1 APN 11 101,069,633 (GRCm39) splice site probably benign
IGL02184:Cntnap1 APN 11 101,069,191 (GRCm39) missense probably damaging 0.98
IGL02272:Cntnap1 APN 11 101,069,142 (GRCm39) missense probably damaging 0.99
IGL02281:Cntnap1 APN 11 101,073,080 (GRCm39) missense possibly damaging 0.86
IGL02437:Cntnap1 APN 11 101,077,677 (GRCm39) missense probably damaging 1.00
IGL02456:Cntnap1 APN 11 101,068,955 (GRCm39) missense probably benign 0.31
IGL02966:Cntnap1 APN 11 101,075,575 (GRCm39) missense probably damaging 1.00
IGL03126:Cntnap1 APN 11 101,067,127 (GRCm39) missense probably benign 0.00
IGL03294:Cntnap1 APN 11 101,072,508 (GRCm39) missense possibly damaging 0.94
Penny UTSW 11 101,077,590 (GRCm39) missense probably damaging 0.99
FR4304:Cntnap1 UTSW 11 101,080,415 (GRCm39) unclassified probably benign
FR4304:Cntnap1 UTSW 11 101,080,407 (GRCm39) unclassified probably benign
FR4342:Cntnap1 UTSW 11 101,080,401 (GRCm39) unclassified probably benign
FR4449:Cntnap1 UTSW 11 101,080,419 (GRCm39) unclassified probably benign
FR4449:Cntnap1 UTSW 11 101,080,395 (GRCm39) unclassified probably benign
FR4548:Cntnap1 UTSW 11 101,080,419 (GRCm39) unclassified probably benign
FR4548:Cntnap1 UTSW 11 101,080,405 (GRCm39) unclassified probably benign
FR4548:Cntnap1 UTSW 11 101,080,398 (GRCm39) unclassified probably benign
FR4548:Cntnap1 UTSW 11 101,080,420 (GRCm39) unclassified probably benign
FR4589:Cntnap1 UTSW 11 101,080,401 (GRCm39) unclassified probably benign
FR4589:Cntnap1 UTSW 11 101,080,392 (GRCm39) unclassified probably benign
FR4589:Cntnap1 UTSW 11 101,080,407 (GRCm39) unclassified probably benign
FR4589:Cntnap1 UTSW 11 101,080,406 (GRCm39) unclassified probably benign
FR4737:Cntnap1 UTSW 11 101,080,416 (GRCm39) unclassified probably benign
FR4737:Cntnap1 UTSW 11 101,080,395 (GRCm39) unclassified probably benign
FR4737:Cntnap1 UTSW 11 101,080,402 (GRCm39) unclassified probably benign
FR4737:Cntnap1 UTSW 11 101,080,408 (GRCm39) unclassified probably benign
FR4976:Cntnap1 UTSW 11 101,080,414 (GRCm39) unclassified probably benign
FR4976:Cntnap1 UTSW 11 101,080,395 (GRCm39) unclassified probably benign
FR4976:Cntnap1 UTSW 11 101,080,398 (GRCm39) unclassified probably benign
FR4976:Cntnap1 UTSW 11 101,080,411 (GRCm39) unclassified probably benign
PIT4354001:Cntnap1 UTSW 11 101,072,123 (GRCm39) missense probably damaging 1.00
PIT4466001:Cntnap1 UTSW 11 101,068,131 (GRCm39) missense probably benign
R0329:Cntnap1 UTSW 11 101,079,135 (GRCm39) missense probably damaging 1.00
R0556:Cntnap1 UTSW 11 101,074,822 (GRCm39) missense probably benign
R0586:Cntnap1 UTSW 11 101,077,840 (GRCm39) missense probably damaging 0.97
R0635:Cntnap1 UTSW 11 101,074,285 (GRCm39) missense probably benign 0.05
R0789:Cntnap1 UTSW 11 101,072,210 (GRCm39) splice site probably benign
R1016:Cntnap1 UTSW 11 101,068,333 (GRCm39) missense probably damaging 0.99
R1085:Cntnap1 UTSW 11 101,069,662 (GRCm39) missense probably benign 0.02
R1211:Cntnap1 UTSW 11 101,075,536 (GRCm39) missense probably damaging 1.00
R1466:Cntnap1 UTSW 11 101,071,186 (GRCm39) missense probably damaging 1.00
R1466:Cntnap1 UTSW 11 101,071,186 (GRCm39) missense probably damaging 1.00
R1584:Cntnap1 UTSW 11 101,071,186 (GRCm39) missense probably damaging 1.00
R1689:Cntnap1 UTSW 11 101,079,699 (GRCm39) splice site probably null
R1758:Cntnap1 UTSW 11 101,075,449 (GRCm39) missense probably damaging 1.00
R1779:Cntnap1 UTSW 11 101,077,337 (GRCm39) missense probably damaging 0.99
R1964:Cntnap1 UTSW 11 101,068,850 (GRCm39) nonsense probably null
R1966:Cntnap1 UTSW 11 101,071,212 (GRCm39) missense possibly damaging 0.89
R2070:Cntnap1 UTSW 11 101,073,805 (GRCm39) missense probably damaging 1.00
R2088:Cntnap1 UTSW 11 101,073,373 (GRCm39) missense probably damaging 1.00
R2118:Cntnap1 UTSW 11 101,079,483 (GRCm39) missense probably benign
R3795:Cntnap1 UTSW 11 101,077,590 (GRCm39) missense probably damaging 0.99
R4375:Cntnap1 UTSW 11 101,073,079 (GRCm39) missense probably damaging 1.00
R4779:Cntnap1 UTSW 11 101,068,898 (GRCm39) missense possibly damaging 0.91
R4832:Cntnap1 UTSW 11 101,073,845 (GRCm39) missense probably damaging 1.00
R4965:Cntnap1 UTSW 11 101,068,251 (GRCm39) missense possibly damaging 0.52
R4981:Cntnap1 UTSW 11 101,067,159 (GRCm39) splice site probably null
R5008:Cntnap1 UTSW 11 101,079,567 (GRCm39) nonsense probably null
R5399:Cntnap1 UTSW 11 101,074,142 (GRCm39) missense probably benign
R5507:Cntnap1 UTSW 11 101,074,303 (GRCm39) missense probably benign 0.42
R5560:Cntnap1 UTSW 11 101,073,261 (GRCm39) missense probably damaging 1.00
R5589:Cntnap1 UTSW 11 101,075,944 (GRCm39) missense probably benign
R6038:Cntnap1 UTSW 11 101,075,462 (GRCm39) missense probably benign 0.12
R6038:Cntnap1 UTSW 11 101,075,462 (GRCm39) missense probably benign 0.12
R6242:Cntnap1 UTSW 11 101,073,364 (GRCm39) missense probably damaging 1.00
R6306:Cntnap1 UTSW 11 101,075,441 (GRCm39) missense probably damaging 1.00
R6392:Cntnap1 UTSW 11 101,077,472 (GRCm39) missense probably damaging 1.00
R6803:Cntnap1 UTSW 11 101,068,060 (GRCm39) missense possibly damaging 0.81
R6939:Cntnap1 UTSW 11 101,077,337 (GRCm39) missense probably damaging 0.99
R6944:Cntnap1 UTSW 11 101,073,730 (GRCm39) missense probably damaging 0.97
R7152:Cntnap1 UTSW 11 101,068,152 (GRCm39) missense probably damaging 1.00
R7297:Cntnap1 UTSW 11 101,079,460 (GRCm39) missense probably benign 0.01
R7347:Cntnap1 UTSW 11 101,076,094 (GRCm39) missense probably damaging 1.00
R7961:Cntnap1 UTSW 11 101,069,121 (GRCm39) missense probably benign
R7980:Cntnap1 UTSW 11 101,079,719 (GRCm39) missense probably benign
R8307:Cntnap1 UTSW 11 101,079,702 (GRCm39) missense possibly damaging 0.73
R8386:Cntnap1 UTSW 11 101,073,029 (GRCm39) missense probably damaging 1.00
R8403:Cntnap1 UTSW 11 101,068,416 (GRCm39) missense probably damaging 1.00
R8826:Cntnap1 UTSW 11 101,077,655 (GRCm39) missense probably damaging 0.99
R9103:Cntnap1 UTSW 11 101,072,094 (GRCm39) missense probably benign 0.06
R9279:Cntnap1 UTSW 11 101,072,121 (GRCm39) missense probably damaging 0.99
R9284:Cntnap1 UTSW 11 101,068,137 (GRCm39) missense probably benign
R9386:Cntnap1 UTSW 11 101,076,052 (GRCm39) missense probably damaging 1.00
R9697:Cntnap1 UTSW 11 101,068,828 (GRCm39) missense possibly damaging 0.51
RF042:Cntnap1 UTSW 11 101,071,131 (GRCm39) critical splice acceptor site probably benign
RF048:Cntnap1 UTSW 11 101,080,389 (GRCm39) unclassified probably benign
RF048:Cntnap1 UTSW 11 101,071,131 (GRCm39) critical splice acceptor site probably benign
RF049:Cntnap1 UTSW 11 101,080,422 (GRCm39) unclassified probably benign
RF049:Cntnap1 UTSW 11 101,080,418 (GRCm39) unclassified probably benign
RF050:Cntnap1 UTSW 11 101,080,418 (GRCm39) unclassified probably benign
Z1176:Cntnap1 UTSW 11 101,073,724 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TGGTTACTGGCTCTACCCAC -3'
(R):5'- GAGCAACCACACCTGTAAGG -3'

Sequencing Primer
(F):5'- GGTTACTGGCTCTACCCACTTAGC -3'
(R):5'- CCTGTAAGGTCCTTCCCAGG -3'
Posted On 2022-10-06