Incidental Mutation 'R5399:Cntnap1'
ID 429892
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 042970-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.496) question?
Stock # R5399 (G1)
Quality Score 225
Status Not validated
Chromosome 11
Chromosomal Location 101065429-101081550 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 101074142 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamine to Arginine at position 722 (Q722R)
Ref Sequence ENSEMBL: ENSMUSP00000099398 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000103109]
AlphaFold O54991
Predicted Effect probably benign
Transcript: ENSMUST00000103109
AA Change: Q722R

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000099398
Gene: ENSMUSG00000017167
AA Change: Q722R

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: 99.3%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 95.3%
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: 70 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
6820408C15Rik G T 2: 152,282,788 (GRCm39) L214F probably damaging Het
Abcb1b T C 5: 8,877,410 (GRCm39) S657P probably benign Het
Abcb5 T A 12: 118,875,234 (GRCm39) Y646F probably benign Het
Agl A T 3: 116,575,277 (GRCm39) L620Q probably damaging Het
Anapc15 C T 7: 101,547,810 (GRCm39) P68L probably damaging Het
Arhgap23 A G 11: 97,391,743 (GRCm39) N1420S probably damaging Het
Barx2 A G 9: 31,765,407 (GRCm39) probably null Het
Birc6 C A 17: 74,911,573 (GRCm39) S28R possibly damaging Het
Bmal2 T G 6: 146,724,159 (GRCm39) D350E probably damaging Het
Btbd19 G A 4: 116,980,957 (GRCm39) A104V probably damaging Het
Casp4 A T 9: 5,324,928 (GRCm39) K247* probably null Het
Ccdc196 A C 12: 78,244,227 (GRCm39) N60T probably damaging Het
Clk4 T C 11: 51,166,084 (GRCm39) Y17H probably damaging Het
Col6a6 A G 9: 105,586,306 (GRCm39) V1905A possibly damaging Het
Csmd1 C A 8: 16,760,613 (GRCm39) G174V probably damaging Het
Cul1 T A 6: 47,462,018 (GRCm39) probably null Het
Cux1 T C 5: 136,281,458 (GRCm39) E568G possibly damaging Het
Dnaaf2 A G 12: 69,243,516 (GRCm39) I515T probably damaging Het
Fbn1 T C 2: 125,174,253 (GRCm39) I1868V possibly damaging Het
Fcgbp G T 7: 27,804,480 (GRCm39) V1863L probably benign Het
G2e3 T C 12: 51,403,977 (GRCm39) probably null Het
Gabrr2 T C 4: 33,071,458 (GRCm39) probably null Het
Gad1-ps G A 10: 99,281,009 (GRCm39) noncoding transcript Het
Gbgt1 C T 2: 28,393,230 (GRCm39) P106L probably damaging Het
Golga3 A G 5: 110,352,890 (GRCm39) E927G probably damaging Het
Hfm1 T A 5: 107,065,428 (GRCm39) I84F possibly damaging Het
Htt G T 5: 35,034,495 (GRCm39) D1989Y probably damaging Het
Ihh C T 1: 74,985,436 (GRCm39) A350T probably benign Het
Irx4 G C 13: 73,413,658 (GRCm39) A43P probably benign Het
Itk A G 11: 46,228,938 (GRCm39) V414A probably benign Het
Itsn2 A T 12: 4,703,535 (GRCm39) I744L probably benign Het
Kdm5b G A 1: 134,549,836 (GRCm39) probably null Het
Kif14 A G 1: 136,431,062 (GRCm39) D1153G probably benign Het
Morc3 A G 16: 93,659,427 (GRCm39) probably null Het
Mplkipl1 C T 19: 61,164,364 (GRCm39) G24R unknown Het
Msc A T 1: 14,825,780 (GRCm39) C65S probably benign Het
Mybpc1 A G 10: 88,358,876 (GRCm39) V343A probably damaging Het
Myo5c T C 9: 75,195,356 (GRCm39) I1218T possibly damaging Het
Mypn C T 10: 62,955,965 (GRCm39) V1163I probably benign Het
Obox3 A T 7: 15,360,213 (GRCm39) M152K probably benign Het
Or1e16 AGCGGTCGTAGGC AGC 11: 73,286,480 (GRCm39) probably null Het
Or2t47 A G 11: 58,442,969 (GRCm39) V32A probably benign Het
Or4c106 T A 2: 88,682,999 (GRCm39) L235H probably damaging Het
Or4c3 T A 2: 89,852,267 (GRCm39) T48S probably benign Het
Pcdhb21 G T 18: 37,648,772 (GRCm39) V634L probably benign Het
Ppp1r9b G A 11: 94,882,974 (GRCm39) A201T probably benign Het
Pramel25 T C 4: 143,521,602 (GRCm39) F406S probably benign Het
Prss23 A T 7: 89,159,174 (GRCm39) D298E probably benign Het
Rab4b A T 7: 26,875,587 (GRCm39) N31K probably benign Het
Ros1 A G 10: 51,967,040 (GRCm39) probably null Het
Rragb G A X: 151,923,550 (GRCm39) G24E probably damaging Het
Rtl1 A T 12: 109,556,736 (GRCm39) L1701Q probably damaging Het
Sbno1 T A 5: 124,530,804 (GRCm39) N831Y probably benign Het
Selp A G 1: 163,954,155 (GRCm39) K152E possibly damaging Het
Sema4b A G 7: 79,874,634 (GRCm39) T675A probably benign Het
Slc36a3 T C 11: 55,037,006 (GRCm39) I100V possibly damaging Het
Slco1a4 T A 6: 141,776,433 (GRCm39) I196F probably damaging Het
Spata13 G A 14: 60,984,990 (GRCm39) S828N probably benign Het
Stard13 A T 5: 150,971,266 (GRCm39) Y643* probably null Het
Tll1 T C 8: 64,538,522 (GRCm39) H374R probably damaging Het
Trmt10a T A 3: 137,853,265 (GRCm39) I42K probably damaging Het
Trmu A T 15: 85,780,609 (GRCm39) probably null Het
Trp53 T A 11: 69,479,372 (GRCm39) D183E probably benign Het
Ttc22 T G 4: 106,493,954 (GRCm39) F305V probably damaging Het
Unc13c A G 9: 73,656,970 (GRCm39) F1077S possibly damaging Het
Utrn T A 10: 12,516,727 (GRCm39) Q2289L probably damaging Het
Vmn1r65 C A 7: 6,011,809 (GRCm39) E142* probably null Het
Vmn2r63 A T 7: 42,577,701 (GRCm39) V279D probably benign Het
Zfp810 G A 9: 22,190,125 (GRCm39) T261I possibly damaging Het
Zkscan17 A G 11: 59,393,744 (GRCm39) probably null 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
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'- AAAGTCAGGGCTGCTTGAACC -3'
(R):5'- AGCGGTTTGTATCACCTACC -3'

Sequencing Primer
(F):5'- CTGCTTGAACCCAGGTATGAG -3'
(R):5'- CTGAGTGACAGGCAGATGGTCTAC -3'
Posted On 2016-09-06