Incidental Mutation 'R9103:Cntnap1'
ID 691837
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 # R9103 (G1)
Quality Score 225.009
Status Validated
Chromosome 11
Chromosomal Location 101065429-101081550 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 101072094 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Serine at position 449 (N449S)
Ref Sequence ENSEMBL: ENSMUSP00000099398 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000103109]
AlphaFold O54991
Predicted Effect probably benign
Transcript: ENSMUST00000103109
AA Change: N449S

PolyPhen 2 Score 0.057 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000099398
Gene: ENSMUSG00000017167
AA Change: N449S

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: 98.3%
Validation Efficiency 100% (73/73)
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: 73 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam6b T A 12: 113,454,558 (GRCm39) C458* probably null Het
Adgra2 G A 8: 27,603,436 (GRCm39) G407D probably damaging Het
Aox4 G A 1: 58,296,441 (GRCm39) G1046E probably damaging Het
Arhgap27 A G 11: 103,251,540 (GRCm39) Y63H probably damaging Het
Ascl3 A T 7: 109,327,127 (GRCm39) M64K probably benign Het
Cacna2d3 G A 14: 29,068,971 (GRCm39) T252I probably damaging Het
Capn7 A G 14: 31,091,732 (GRCm39) T710A probably benign Het
Carmil1 A G 13: 24,295,836 (GRCm39) C393R probably benign Het
Chd5 A C 4: 152,461,444 (GRCm39) E1215A possibly damaging Het
Cpz G A 5: 35,675,054 (GRCm39) S65L probably benign Het
Cyp2c68 T A 19: 39,727,625 (GRCm39) N118I possibly damaging Het
Ddx25 A T 9: 35,458,085 (GRCm39) F345I probably benign Het
Dennd2d T C 3: 106,397,684 (GRCm39) Y161H Het
Egfl8 C T 17: 34,833,210 (GRCm39) D179N probably benign Het
Eif2a A G 3: 58,452,461 (GRCm39) N174S Het
Farp1 C T 14: 121,509,104 (GRCm39) H643Y possibly damaging Het
Fat1 G T 8: 45,404,850 (GRCm39) V534L probably benign Het
Fbxo48 A G 11: 16,903,556 (GRCm39) T61A probably benign Het
Fnbp4 A G 2: 90,608,187 (GRCm39) T970A probably benign Het
Foxd1 T A 13: 98,491,763 (GRCm39) D212E possibly damaging Het
Fstl4 C A 11: 52,664,696 (GRCm39) H9N probably benign Het
Fyb1 A G 15: 6,673,232 (GRCm39) D622G possibly damaging Het
Gm4787 T A 12: 81,425,489 (GRCm39) H223L probably benign Het
Grin3a A G 4: 49,771,179 (GRCm39) V531A probably damaging Het
Gzmb T C 14: 56,498,622 (GRCm39) D42G probably benign Het
Herc2 T A 7: 55,784,803 (GRCm39) Y1416N possibly damaging Het
Hps4 G A 5: 112,525,905 (GRCm39) S642N possibly damaging Het
Hsd17b6 A G 10: 127,833,876 (GRCm39) W2R probably damaging Het
Hspa4l T C 3: 40,715,349 (GRCm39) probably null Het
Igtp A G 11: 58,097,726 (GRCm39) E299G Het
Klhl28 T C 12: 64,990,300 (GRCm39) D547G possibly damaging Het
Leng8 G C 7: 4,146,897 (GRCm39) R473P probably damaging Het
Lin37 T A 7: 30,257,055 (GRCm39) N53Y possibly damaging Het
Lrp1 G A 10: 127,430,979 (GRCm39) Q357* probably null Het
Lrrfip2 A T 9: 111,034,840 (GRCm39) K176N probably damaging Het
Ltbp4 A G 7: 27,028,186 (GRCm39) S390P unknown Het
Map3k2 G A 18: 32,353,625 (GRCm39) R465H possibly damaging Het
Mthfd1 T A 12: 76,350,517 (GRCm39) V665E probably damaging Het
Myh3 A T 11: 66,989,451 (GRCm39) I1524F probably benign Het
Myo1g A G 11: 6,466,153 (GRCm39) S339P possibly damaging Het
Nf1 A G 11: 79,450,332 (GRCm39) K506R probably damaging Het
Nudt21 A G 8: 94,746,321 (GRCm39) I225T probably benign Het
Or4c31 A G 2: 88,291,942 (GRCm39) K105R probably benign Het
Or56b1b A T 7: 108,164,780 (GRCm39) L74Q probably benign Het
Or5g9 T A 2: 85,552,527 (GRCm39) Y259* probably null Het
Or8b3 A G 9: 38,314,518 (GRCm39) Y116C probably damaging Het
Or8c18 A T 9: 38,203,969 (GRCm39) I243F probably damaging Het
Pax2 C T 19: 44,806,968 (GRCm39) T299I probably benign Het
Pde4dip C T 3: 97,749,044 (GRCm39) S99N probably damaging Het
Pdlim5 T A 3: 142,010,174 (GRCm39) H147L possibly damaging Het
Pfkfb3 T A 2: 11,487,381 (GRCm39) Y343F probably damaging Het
Phf10 A G 17: 15,174,382 (GRCm39) I232T probably damaging Het
Plcb3 C T 19: 6,936,288 (GRCm39) G745D probably benign Het
Pramel11 G A 4: 143,624,381 (GRCm39) L39F probably damaging Het
Recql C A 6: 142,322,515 (GRCm39) C129F possibly damaging Het
Rrp1 C T 10: 78,240,876 (GRCm39) D288N unknown Het
Samd4 T C 14: 47,254,066 (GRCm39) Y177H probably benign Het
Sim1 T A 10: 50,785,525 (GRCm39) M198K possibly damaging Het
Six4 T C 12: 73,155,964 (GRCm39) I334M probably damaging Het
Slc27a6 T C 18: 58,705,268 (GRCm39) S217P probably damaging Het
Slc2a4 T A 11: 69,836,218 (GRCm39) K264N probably benign Het
Slc8b1 A T 5: 120,670,939 (GRCm39) I476F probably benign Het
Smcp T C 3: 92,491,838 (GRCm39) D3G unknown Het
Tagap A T 17: 8,152,335 (GRCm39) M507L probably benign Het
Thap11 A G 8: 106,582,780 (GRCm39) E263G probably damaging Het
Tmco1 C T 1: 167,136,132 (GRCm39) probably benign Het
Top3a T G 11: 60,654,253 (GRCm39) probably null Het
Ube2q2l T A 6: 136,378,011 (GRCm39) D273V probably benign Het
Vmn1r31 A G 6: 58,449,073 (GRCm39) V264A unknown Het
Vti1a A C 19: 55,316,865 (GRCm39) M81L probably benign Het
Wscd1 T C 11: 71,674,245 (GRCm39) probably null Het
Zfp595 T C 13: 67,464,676 (GRCm39) E532G probably damaging Het
Zranb1 T A 7: 132,584,167 (GRCm39) V539D probably 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
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
R9689:Cntnap1 UTSW 11 101,072,178 (GRCm39) missense probably damaging 0.98
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'- TGATTCCATGAGGATCCAGCG -3'
(R):5'- GCCCCATCAGAAGTGAAATAGG -3'

Sequencing Primer
(F):5'- TCCCAGGGTACTGCACTCATG -3'
(R):5'- TCAGAAGTGAAATAGGACCTTCC -3'
Posted On 2021-12-30