Incidental Mutation 'R6803:Cntnap1'
ID 533455
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 044916-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.496) question?
Stock # R6803 (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 101068060 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Cysteine at position 24 (Y24C)
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 possibly damaging
Transcript: ENSMUST00000103109
AA Change: Y24C

PolyPhen 2 Score 0.806 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000099398
Gene: ENSMUSG00000017167
AA Change: Y24C

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
Meta Mutation Damage Score 0.1725 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.5%
  • 10x: 98.0%
  • 20x: 94.7%
Validation Efficiency 100% (52/52)
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: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Alg9 A C 9: 50,700,860 (GRCm39) D210A probably benign Het
As3mt T G 19: 46,698,020 (GRCm39) M120R probably benign Het
Baz1a T A 12: 54,988,340 (GRCm39) S270C probably null Het
Car5a A C 8: 122,650,504 (GRCm39) probably null Het
Ccdc187 T A 2: 26,179,791 (GRCm39) T223S probably benign Het
Cel T C 2: 28,448,060 (GRCm39) N322S probably benign Het
Chd6 T C 2: 160,802,279 (GRCm39) E2185G possibly damaging Het
Clcnkb T C 4: 141,132,639 (GRCm39) T597A probably benign Het
Cog3 A G 14: 75,941,479 (GRCm39) S817P probably benign Het
Col8a2 A G 4: 126,205,793 (GRCm39) Y601C probably damaging Het
Cpm G T 10: 117,512,002 (GRCm39) probably null Het
Cpt2 T C 4: 107,769,861 (GRCm39) N79S probably damaging Het
Dnah17 T C 11: 118,016,198 (GRCm39) T314A probably benign Het
Dnm1 C A 2: 32,202,766 (GRCm39) V46F probably damaging Het
Fat3 C T 9: 15,908,083 (GRCm39) V2640M probably damaging Het
Fbxl2 A T 9: 113,813,617 (GRCm39) C296S probably damaging Het
Fcgbp A G 7: 27,802,637 (GRCm39) T1522A probably benign Het
Foxl2 A C 9: 98,837,985 (GRCm39) K91T probably damaging Het
Hdac11 G T 6: 91,143,247 (GRCm39) R131L probably damaging Het
Ipo11 T C 13: 106,993,766 (GRCm39) I723V probably benign Het
Klhl33 A G 14: 51,134,192 (GRCm39) L150P probably damaging Het
Klk1b11 A G 7: 43,647,261 (GRCm39) H65R probably damaging Het
Larp7 T C 3: 127,330,685 (GRCm39) probably null Het
Ldlrad3 T C 2: 101,943,892 (GRCm39) D60G possibly damaging Het
Mlip A T 9: 77,097,663 (GRCm39) H177Q probably damaging Het
Mrnip A G 11: 50,090,730 (GRCm39) D298G probably benign Het
Npas2 A C 1: 39,375,130 (GRCm39) S483R probably benign Het
Nrg3 C A 14: 38,733,957 (GRCm39) E310* probably null Het
Omg T A 11: 79,393,094 (GRCm39) T255S possibly damaging Het
Or2y12 T A 11: 49,426,432 (GRCm39) L140H probably damaging Het
Or56b1b G T 7: 108,164,620 (GRCm39) D127E probably damaging Het
Plekhg6 T C 6: 125,340,626 (GRCm39) D578G probably damaging Het
Pygo1 A G 9: 72,850,267 (GRCm39) K39E probably damaging Het
Rell2 A G 18: 38,089,994 (GRCm39) D66G probably damaging Het
Samd9l A T 6: 3,375,446 (GRCm39) I605K probably damaging Het
Sema6d T C 2: 124,505,970 (GRCm39) S593P probably damaging Het
Sf3b3 A G 8: 111,552,210 (GRCm39) V545A probably benign Het
Speer4f1 T A 5: 17,684,388 (GRCm39) probably null Het
Spem1 T C 11: 69,711,974 (GRCm39) E230G possibly damaging Het
Sphkap A G 1: 83,258,231 (GRCm39) F171L probably damaging Het
Tbc1d13 T C 2: 30,025,522 (GRCm39) probably benign Het
Tmem222 A T 4: 132,994,154 (GRCm39) N206K probably benign Het
Trnau1ap C T 4: 132,049,081 (GRCm39) V41M probably damaging Het
Ttn C T 2: 76,769,387 (GRCm39) probably null Het
Ubr3 T C 2: 69,766,368 (GRCm39) probably null Het
Uox T G 3: 146,318,264 (GRCm39) V55G possibly damaging Het
Vmn2r24 A T 6: 123,755,960 (GRCm39) I11F possibly damaging Het
Wasf2 T C 4: 132,922,220 (GRCm39) probably null Het
Wdr97 A G 15: 76,240,776 (GRCm39) Y488C probably damaging Het
Zbtb4 T C 11: 69,669,454 (GRCm39) S726P possibly damaging Het
Zfp534 C T 4: 147,758,926 (GRCm39) C581Y probably damaging Het
Zfp551 A T 7: 12,151,108 (GRCm39) C100* 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
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
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'- TAGATGGAGGCATAGCGTTACC -3'
(R):5'- CATCCACTGATGCCTACAGAAG -3'

Sequencing Primer
(F):5'- TGGAGGCATAGCGTTACCCTAAG -3'
(R):5'- AGGGGCAAGGGCTTTTACCAC -3'
Posted On 2018-09-12