Incidental Mutation 'R1964:Cntnap1'
ID 217135
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 039977-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.496) question?
Stock # R1964 (G1)
Quality Score 225
Status Not validated
Chromosome 11
Chromosomal Location 101065429-101081550 bp(+) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) C to A at 101068850 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Stop codon at position 131 (S131*)
Ref Sequence ENSEMBL: ENSMUSP00000099398 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000062759] [ENSMUST00000103109]
AlphaFold O54991
Predicted Effect probably benign
Transcript: ENSMUST00000062759
SMART Domains Protein: ENSMUSP00000062588
Gene: ENSMUSG00000044052

DomainStartEndE-ValueType
Pfam:7tm_1 58 310 4.8e-43 PFAM
low complexity region 313 329 N/A INTRINSIC
low complexity region 336 349 N/A INTRINSIC
Predicted Effect probably null
Transcript: ENSMUST00000103109
AA Change: S131*
SMART Domains Protein: ENSMUSP00000099398
Gene: ENSMUSG00000017167
AA Change: S131*

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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000138942
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.5%
  • 10x: 96.8%
  • 20x: 94.1%
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: 96 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700010I14Rik C T 17: 9,211,324 (GRCm39) H158Y probably damaging Het
1810009J06Rik T A 6: 40,945,141 (GRCm39) C207S probably damaging Het
Aadac T A 3: 59,944,759 (GRCm39) probably null Het
Abca6 T A 11: 110,075,502 (GRCm39) I1330F probably damaging Het
Adar A T 3: 89,653,202 (GRCm39) S263C probably benign Het
Adra2b T C 2: 127,205,734 (GRCm39) Y84H probably damaging Het
Arnt2 A T 7: 83,992,997 (GRCm39) V181E possibly damaging Het
Atg7 T C 6: 114,683,191 (GRCm39) L418P probably damaging Het
Atp2c1 A G 9: 105,323,322 (GRCm39) L181P probably damaging Het
Awat2 G A X: 99,448,165 (GRCm39) P148S probably damaging Het
Birc6 A G 17: 74,941,880 (GRCm39) M2737V possibly damaging Het
Ccdc81 A G 7: 89,535,361 (GRCm39) C292R probably benign Het
Cd14 T A 18: 36,859,392 (GRCm39) E21V probably damaging Het
Cdc14b A C 13: 64,363,351 (GRCm39) C303W probably damaging Het
Cdh23 T C 10: 60,221,001 (GRCm39) I1248V probably benign Het
Ceacam1 T C 7: 25,174,133 (GRCm39) D174G probably benign Het
Cgas T G 9: 78,344,737 (GRCm39) Y228S probably damaging Het
Chd7 A G 4: 8,865,978 (GRCm39) M717V probably damaging Het
Cib1 T C 7: 79,882,120 (GRCm39) T20A possibly damaging Het
Clec4d A G 6: 123,239,319 (GRCm39) K9R probably benign Het
Crybg1 T C 10: 43,834,326 (GRCm39) K1581R probably damaging Het
Csf2 T G 11: 54,139,284 (GRCm39) T100P probably benign Het
Csrp2 T A 10: 110,767,894 (GRCm39) D26E probably benign Het
Cul1 T C 6: 47,479,505 (GRCm39) V257A probably damaging Het
Cul4a G A 8: 13,186,406 (GRCm39) M505I possibly damaging Het
Cul4a T C 8: 13,186,854 (GRCm39) M530T probably benign Het
Dcp2 T C 18: 44,529,038 (GRCm39) M51T possibly damaging Het
Ddx60 T A 8: 62,401,903 (GRCm39) C260S probably benign Het
Dennd2c G A 3: 103,073,807 (GRCm39) R851H probably damaging Het
Dnah11 T C 12: 118,106,027 (GRCm39) E625G possibly damaging Het
Edem1 T C 6: 108,821,908 (GRCm39) W322R probably benign Het
Egflam T C 15: 7,276,586 (GRCm39) T527A probably damaging Het
Ephb1 T A 9: 101,848,322 (GRCm39) M659L possibly damaging Het
Fbxl2 A G 9: 113,818,237 (GRCm39) I203T probably benign Het
Gabbr1 G A 17: 37,359,351 (GRCm39) G109R probably damaging Het
Gabra2 T C 5: 71,171,793 (GRCm39) I148V possibly damaging Het
Golga1 A G 2: 38,937,099 (GRCm39) V161A probably benign Het
Gps2 T G 11: 69,807,246 (GRCm39) S301A probably benign Het
H2-D1 T C 17: 35,482,595 (GRCm39) L105P probably benign Het
Igdcc4 T C 9: 65,030,051 (GRCm39) V367A probably benign Het
Igkv4-69 T G 6: 69,260,782 (GRCm39) Y115S probably benign Het
Itga5 A G 15: 103,262,741 (GRCm39) L309P probably damaging Het
Itih1 A G 14: 30,651,580 (GRCm39) Y871H probably damaging Het
Itpr2 T A 6: 146,013,191 (GRCm39) N2662I probably damaging Het
Kctd19 T A 8: 106,115,102 (GRCm39) E486D probably damaging Het
Kif5b C T 18: 6,209,059 (GRCm39) R901Q possibly damaging Het
Kmt2a G A 9: 44,731,941 (GRCm39) S2792F probably benign Het
Magi3 A G 3: 103,927,718 (GRCm39) V1023A probably damaging Het
Mapk9 C A 11: 49,745,160 (GRCm39) R25S probably null Het
Memo1 T C 17: 74,552,003 (GRCm39) T98A possibly damaging Het
Mill2 A G 7: 18,590,529 (GRCm39) K203R probably damaging Het
Mios T A 6: 8,215,798 (GRCm39) H331Q probably damaging Het
Muc6 G T 7: 141,226,329 (GRCm39) S1566* probably null Het
Muc6 A G 7: 141,226,330 (GRCm39) probably benign Het
Napsa T C 7: 44,231,109 (GRCm39) F113L probably benign Het
Or5ac16 T A 16: 59,022,271 (GRCm39) I173F possibly damaging Het
Or9m1 A G 2: 87,734,011 (GRCm39) V3A probably benign Het
Oscp1 T G 4: 125,977,415 (GRCm39) V226G possibly damaging Het
Osgin2 G T 4: 15,998,358 (GRCm39) S421R probably damaging Het
Pclaf A G 9: 65,800,677 (GRCm39) N50D probably damaging Het
Pdgfc A T 3: 81,082,292 (GRCm39) I162F probably benign Het
Plag1 T C 4: 3,903,956 (GRCm39) T412A probably benign Het
Pogz A T 3: 94,785,504 (GRCm39) T820S probably benign Het
Ptpn9 T A 9: 56,967,196 (GRCm39) V473D probably damaging Het
Qdpr A T 5: 45,596,660 (GRCm39) M66K possibly damaging Het
Qrich1 A G 9: 108,411,621 (GRCm39) N382S possibly damaging Het
Rbbp8 T C 18: 11,875,736 (GRCm39) V883A possibly damaging Het
Rgl1 T A 1: 152,424,855 (GRCm39) I375F probably damaging Het
Rif1 C T 2: 51,988,421 (GRCm39) T720I probably benign Het
Rilp A T 11: 75,401,328 (GRCm39) Q95L probably benign Het
Rnf169 T A 7: 99,574,732 (GRCm39) N621I probably damaging Het
Rps27a T C 11: 29,497,229 (GRCm39) K27R probably null Het
Sar1a T C 10: 61,520,947 (GRCm39) V54A probably benign Het
Sash1 T A 10: 8,605,477 (GRCm39) H971L probably benign Het
Sdk2 G A 11: 113,671,843 (GRCm39) Q2102* probably null Het
Serpina1e T A 12: 103,917,466 (GRCm39) I68F probably damaging Het
Serpinb9e A C 13: 33,437,474 (GRCm39) Q119P probably benign Het
Sh3tc2 A T 18: 62,124,226 (GRCm39) K965* probably null Het
Slc16a1 A T 3: 104,556,782 (GRCm39) S56C probably damaging Het
Slc26a11 T A 11: 119,271,020 (GRCm39) L563Q possibly damaging Het
Smarca2 G T 19: 26,650,124 (GRCm39) E24* probably null Het
Smgc G A 15: 91,744,468 (GRCm39) G239D probably damaging Het
Sos2 A T 12: 69,663,636 (GRCm39) M616K possibly damaging Het
Tet1 T A 10: 62,648,726 (GRCm39) D1902V possibly damaging Het
Thap2 C T 10: 115,220,152 (GRCm39) C10Y probably damaging Het
Tln2 T C 9: 67,249,417 (GRCm39) D890G probably benign Het
Tor2a G A 2: 32,648,716 (GRCm39) G62D probably damaging Het
Ubqln5 A T 7: 103,778,095 (GRCm39) V243E possibly damaging Het
Utrn A T 10: 12,560,181 (GRCm39) D1369E probably damaging Het
Vcan A G 13: 89,840,861 (GRCm39) V1561A probably benign Het
Vmn1r70 T C 7: 10,367,737 (GRCm39) F56S possibly damaging Het
Vmn2r25 A G 6: 123,800,254 (GRCm39) L696S possibly damaging Het
Washc2 A G 6: 116,185,948 (GRCm39) T53A probably damaging Het
Wnk1 T A 6: 119,911,343 (GRCm39) T2417S possibly damaging Het
Zbtb49 A T 5: 38,361,105 (GRCm39) C12* probably null Het
Zfp472 C A 17: 33,196,848 (GRCm39) P308T 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
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
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'- AGCTTCCTGAGTTCAGTGAC -3'
(R):5'- AAGATGGTCCCTCTCAGGATC -3'

Sequencing Primer
(F):5'- GCTTCCTGAGTTCAGTGACATTAGAC -3'
(R):5'- ATGGTCCCTCTCAGGATCCTCAC -3'
Posted On 2014-08-01