Incidental Mutation 'R7165:Cntnap5b'
ID 557836
Institutional Source Beutler Lab
Gene Symbol Cntnap5b
Ensembl Gene ENSMUSG00000067028
Gene Name contactin associated protein-like 5B
Synonyms C230078M14Rik, Caspr5-2
MMRRC Submission 045262-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.158) question?
Stock # R7165 (G1)
Quality Score 225.009
Status Validated
Chromosome 1
Chromosomal Location 99700490-100413667 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 100003887 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Asparagine at position 289 (T289N)
Ref Sequence ENSEMBL: ENSMUSP00000083944 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000086738]
AlphaFold Q0V8T8
Predicted Effect possibly damaging
Transcript: ENSMUST00000086738
AA Change: T289N

PolyPhen 2 Score 0.935 (Sensitivity: 0.80; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000083944
Gene: ENSMUSG00000067028
AA Change: T289N

DomainStartEndE-ValueType
signal peptide 1 24 N/A INTRINSIC
FA58C 39 174 2.76e-16 SMART
LamG 201 338 2.84e-27 SMART
LamG 387 521 9.22e-27 SMART
EGF 549 583 1.14e0 SMART
Blast:FBG 586 758 3e-66 BLAST
LamG 798 925 2.12e-26 SMART
EGF 946 982 1.51e0 SMART
LamG 1023 1159 2.14e-13 SMART
transmembrane domain 1227 1249 N/A INTRINSIC
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 98.8%
Validation Efficiency 98% (79/81)
Allele List at MGI
Other mutations in this stock
Total: 81 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acoxl C A 2: 127,965,028 (GRCm39) A624E probably benign Het
Adnp A G 2: 168,024,287 (GRCm39) S1003P probably benign Het
Akap8l T C 17: 32,557,386 (GRCm39) D75G probably damaging Het
Ap4e1 A T 2: 126,905,238 (GRCm39) T970S possibly damaging Het
Asb3 T A 11: 30,979,029 (GRCm39) N106K probably damaging Het
Atp1a3 T C 7: 24,678,390 (GRCm39) I988V probably benign Het
Camta1 A G 4: 151,169,157 (GRCm39) L198S possibly damaging Het
Ccdc77 A G 6: 120,327,193 (GRCm39) L84P probably damaging Het
Ccne1 C T 7: 37,798,726 (GRCm39) A298T probably damaging Het
Cdc42bpb T A 12: 111,287,951 (GRCm39) E532V probably damaging Het
Clasp2 G A 9: 113,615,467 (GRCm39) probably null Het
Dcun1d4 A G 5: 73,648,538 (GRCm39) probably null Het
Dnah14 A G 1: 181,532,100 (GRCm39) T2296A probably benign Het
Dnaja4 A T 9: 54,616,516 (GRCm39) Q173L probably damaging Het
Dync2h1 G A 9: 7,050,479 (GRCm39) A3190V probably benign Het
Frrs1 T A 3: 116,671,920 (GRCm39) I6N probably benign Het
Fscn1 T C 5: 142,957,801 (GRCm39) V477A probably benign Het
Fsip2 G A 2: 82,811,541 (GRCm39) G2620E possibly damaging Het
Glp1r C T 17: 31,128,297 (GRCm39) A92V probably benign Het
Gpr137b A T 13: 13,542,205 (GRCm39) M204K probably damaging Het
Gstm1 A G 3: 107,923,693 (GRCm39) V104A probably benign Het
Gtf2e1 A T 16: 37,356,228 (GRCm39) N101K probably damaging Het
Igsf9b T C 9: 27,245,536 (GRCm39) F1168L probably benign Het
Itpr2 A T 6: 146,195,589 (GRCm39) V1629E probably damaging Het
Kat14 A G 2: 144,235,918 (GRCm39) T428A probably benign Het
Kif21b T C 1: 136,077,186 (GRCm39) Y403H probably damaging Het
Lpcat1 G C 13: 73,662,649 (GRCm39) A533P probably benign Het
Lrp2 A T 2: 69,336,917 (GRCm39) I1285N probably damaging Het
Mboat1 A T 13: 30,408,398 (GRCm39) Y187F probably damaging Het
Mkx T C 18: 7,002,525 (GRCm39) N7S probably damaging Het
Mrps27 A T 13: 99,551,307 (GRCm39) T357S possibly damaging Het
Muc21 A G 17: 35,932,870 (GRCm39) S439P unknown Het
Naa35 A G 13: 59,733,997 (GRCm39) D9G probably benign Het
Ncoa4 T A 14: 31,897,940 (GRCm39) N253K probably damaging Het
Neb A G 2: 52,160,318 (GRCm39) Y2232H probably damaging Het
Nlk G A 11: 78,481,793 (GRCm39) Q223* probably null Het
Npas2 T A 1: 39,331,798 (GRCm39) I71N possibly damaging Het
Nup107 T A 10: 117,609,267 (GRCm39) Q364L probably damaging Het
Or8g17 T A 9: 38,934,566 (GRCm39) probably benign Het
Otof C T 5: 30,532,964 (GRCm39) G1593S probably damaging Het
Panx3 G T 9: 37,575,381 (GRCm39) H160Q probably damaging Het
Pappa T A 4: 65,180,110 (GRCm39) H990Q probably damaging Het
Pax4 G A 6: 28,446,136 (GRCm39) P119L probably damaging Het
Pcdhb20 T A 18: 37,638,123 (GRCm39) D216E probably damaging Het
Pcdhgb8 T A 18: 37,896,231 (GRCm39) S434T possibly damaging Het
Pf4 T C 5: 90,920,448 (GRCm39) V3A probably benign Het
Phf24 T C 4: 42,938,325 (GRCm39) S229P probably benign Het
Plcd3 A G 11: 102,970,439 (GRCm39) F200S probably damaging Het
Ppp1r16a A G 15: 76,575,104 (GRCm39) H4R probably damaging Het
Pramel15 A G 4: 144,099,389 (GRCm39) C459R probably damaging Het
Prdm10 A G 9: 31,227,738 (GRCm39) probably null Het
Prim2 A G 1: 33,667,474 (GRCm39) probably null Het
Prkg1 T A 19: 30,562,599 (GRCm39) H550L probably damaging Het
Prrc2c G T 1: 162,501,086 (GRCm39) T2809N possibly damaging Het
Ptx3 A G 3: 66,132,391 (GRCm39) E304G probably benign Het
Ralgps2 A G 1: 156,655,818 (GRCm39) F369L probably benign Het
Rasgrp1 G A 2: 117,168,885 (GRCm39) T31I probably benign Het
Rbsn A T 6: 92,168,315 (GRCm39) M373K probably benign Het
Rnf168 C G 16: 32,101,179 (GRCm39) R120G probably benign Het
Rp1 A G 1: 4,420,140 (GRCm39) I324T probably damaging Het
Samd11 T C 4: 156,336,747 (GRCm39) S31G probably benign Het
Sart3 A T 5: 113,884,056 (GRCm39) L652Q probably benign Het
Scrn2 A G 11: 96,924,634 (GRCm39) E421G probably benign Het
Sik2 A T 9: 50,828,397 (GRCm39) L215Q probably damaging Het
Speer4a3 AACT A 5: 26,155,849 (GRCm39) probably benign Het
Stard9 A T 2: 120,534,639 (GRCm39) K3632M probably damaging Het
Swt1 A T 1: 151,264,428 (GRCm39) D695E probably damaging Het
Tead3 T A 17: 28,552,228 (GRCm39) M357L probably benign Het
Tgfbi A T 13: 56,775,829 (GRCm39) T292S probably damaging Het
Tmc7 T C 7: 118,155,157 (GRCm39) H247R probably benign Het
Trmt10b T A 4: 45,308,549 (GRCm39) D236E probably damaging Het
Tshz1 C A 18: 84,034,052 (GRCm39) V119L probably damaging Het
Ttn A C 2: 76,658,258 (GRCm39) V12374G unknown Het
Tubgcp2 A G 7: 139,585,274 (GRCm39) Y484H probably damaging Het
Ubr4 G C 4: 139,177,824 (GRCm39) A1947P Het
Uggt1 A C 1: 36,194,188 (GRCm39) V1350G probably benign Het
Vmn1r173 A T 7: 23,402,076 (GRCm39) M104L probably benign Het
Xirp1 A T 9: 119,848,113 (GRCm39) C257S probably damaging Het
Zfyve26 A G 12: 79,327,179 (GRCm39) S724P probably damaging Het
Zmpste24 A T 4: 120,940,091 (GRCm39) L185Q probably null Het
Zpld1 G A 16: 55,052,594 (GRCm39) A340V probably benign Het
Other mutations in Cntnap5b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00417:Cntnap5b APN 1 99,978,479 (GRCm39) missense probably damaging 1.00
IGL00477:Cntnap5b APN 1 100,141,468 (GRCm39) missense probably damaging 0.97
IGL00505:Cntnap5b APN 1 100,306,886 (GRCm39) missense possibly damaging 0.81
IGL00596:Cntnap5b APN 1 100,306,886 (GRCm39) missense possibly damaging 0.81
IGL00846:Cntnap5b APN 1 100,091,948 (GRCm39) missense probably damaging 1.00
IGL00895:Cntnap5b APN 1 100,311,310 (GRCm39) missense probably damaging 0.98
IGL00948:Cntnap5b APN 1 100,069,082 (GRCm39) missense probably benign 0.00
IGL01073:Cntnap5b APN 1 100,003,755 (GRCm39) missense probably benign 0.08
IGL01523:Cntnap5b APN 1 100,359,504 (GRCm39) missense probably benign 0.02
IGL01779:Cntnap5b APN 1 99,895,064 (GRCm39) missense probably damaging 1.00
IGL02253:Cntnap5b APN 1 100,091,936 (GRCm39) missense possibly damaging 0.75
IGL02628:Cntnap5b APN 1 99,999,794 (GRCm39) missense probably damaging 0.97
R0166:Cntnap5b UTSW 1 100,202,086 (GRCm39) missense probably benign 0.41
R0211:Cntnap5b UTSW 1 100,406,099 (GRCm39) missense possibly damaging 0.82
R0281:Cntnap5b UTSW 1 99,999,878 (GRCm39) missense probably benign 0.22
R0363:Cntnap5b UTSW 1 100,202,193 (GRCm39) missense probably benign 0.01
R0514:Cntnap5b UTSW 1 99,700,511 (GRCm39) missense probably benign
R0645:Cntnap5b UTSW 1 99,999,767 (GRCm39) splice site probably benign
R0848:Cntnap5b UTSW 1 100,182,888 (GRCm39) missense probably benign 0.22
R1006:Cntnap5b UTSW 1 100,311,342 (GRCm39) missense probably benign 0.00
R1349:Cntnap5b UTSW 1 100,091,813 (GRCm39) missense probably benign 0.09
R1372:Cntnap5b UTSW 1 100,091,813 (GRCm39) missense probably benign 0.09
R1474:Cntnap5b UTSW 1 99,999,814 (GRCm39) missense probably benign 0.25
R1681:Cntnap5b UTSW 1 100,003,832 (GRCm39) missense probably damaging 0.98
R1727:Cntnap5b UTSW 1 100,141,469 (GRCm39) missense possibly damaging 0.91
R1760:Cntnap5b UTSW 1 99,700,535 (GRCm39) missense probably benign 0.05
R1777:Cntnap5b UTSW 1 100,297,803 (GRCm39) missense probably benign 0.10
R1939:Cntnap5b UTSW 1 99,895,073 (GRCm39) missense probably benign
R1988:Cntnap5b UTSW 1 99,999,865 (GRCm39) missense possibly damaging 0.92
R2069:Cntnap5b UTSW 1 100,286,450 (GRCm39) missense probably benign 0.04
R2113:Cntnap5b UTSW 1 100,202,140 (GRCm39) missense probably benign
R2148:Cntnap5b UTSW 1 100,311,199 (GRCm39) missense probably benign 0.01
R2158:Cntnap5b UTSW 1 100,318,297 (GRCm39) missense probably damaging 1.00
R2223:Cntnap5b UTSW 1 100,141,412 (GRCm39) missense probably damaging 1.00
R2350:Cntnap5b UTSW 1 100,306,851 (GRCm39) missense probably damaging 1.00
R3840:Cntnap5b UTSW 1 100,311,202 (GRCm39) missense possibly damaging 0.50
R4329:Cntnap5b UTSW 1 99,999,888 (GRCm39) missense probably damaging 0.99
R4609:Cntnap5b UTSW 1 99,700,572 (GRCm39) critical splice donor site probably null
R4799:Cntnap5b UTSW 1 100,286,450 (GRCm39) missense probably benign 0.04
R5129:Cntnap5b UTSW 1 100,306,815 (GRCm39) missense probably damaging 1.00
R5323:Cntnap5b UTSW 1 100,311,275 (GRCm39) nonsense probably null
R5434:Cntnap5b UTSW 1 99,999,926 (GRCm39) missense probably benign 0.02
R5579:Cntnap5b UTSW 1 100,311,120 (GRCm39) nonsense probably null
R5579:Cntnap5b UTSW 1 100,311,124 (GRCm39) missense probably benign 0.27
R5630:Cntnap5b UTSW 1 99,999,794 (GRCm39) missense probably damaging 0.99
R5644:Cntnap5b UTSW 1 100,311,326 (GRCm39) missense probably benign 0.00
R5761:Cntnap5b UTSW 1 100,374,619 (GRCm39) missense probably damaging 1.00
R6042:Cntnap5b UTSW 1 100,318,317 (GRCm39) missense probably benign
R6147:Cntnap5b UTSW 1 99,978,506 (GRCm39) missense probably damaging 1.00
R6190:Cntnap5b UTSW 1 100,306,800 (GRCm39) missense possibly damaging 0.80
R6248:Cntnap5b UTSW 1 99,999,827 (GRCm39) missense probably benign 0.30
R6286:Cntnap5b UTSW 1 100,182,798 (GRCm39) missense possibly damaging 0.82
R6306:Cntnap5b UTSW 1 100,091,871 (GRCm39) missense probably damaging 1.00
R6336:Cntnap5b UTSW 1 100,286,394 (GRCm39) missense probably benign 0.00
R6360:Cntnap5b UTSW 1 100,359,461 (GRCm39) nonsense probably null
R6722:Cntnap5b UTSW 1 100,406,211 (GRCm39) missense probably damaging 0.98
R6750:Cntnap5b UTSW 1 100,202,224 (GRCm39) missense probably damaging 1.00
R6806:Cntnap5b UTSW 1 99,868,374 (GRCm39) missense probably damaging 1.00
R6933:Cntnap5b UTSW 1 100,311,175 (GRCm39) missense probably benign 0.01
R6957:Cntnap5b UTSW 1 100,202,197 (GRCm39) missense probably benign 0.08
R6958:Cntnap5b UTSW 1 100,202,197 (GRCm39) missense probably benign 0.08
R6959:Cntnap5b UTSW 1 100,202,197 (GRCm39) missense probably benign 0.08
R6961:Cntnap5b UTSW 1 100,202,197 (GRCm39) missense probably benign 0.08
R6962:Cntnap5b UTSW 1 100,202,197 (GRCm39) missense probably benign 0.08
R7088:Cntnap5b UTSW 1 100,087,802 (GRCm39) missense probably damaging 0.99
R7146:Cntnap5b UTSW 1 99,978,519 (GRCm39) splice site probably null
R7190:Cntnap5b UTSW 1 100,359,574 (GRCm39) splice site probably null
R7376:Cntnap5b UTSW 1 99,894,994 (GRCm39) missense possibly damaging 0.92
R7385:Cntnap5b UTSW 1 100,306,815 (GRCm39) missense probably damaging 1.00
R8053:Cntnap5b UTSW 1 100,318,402 (GRCm39) missense probably damaging 0.98
R8080:Cntnap5b UTSW 1 99,999,928 (GRCm39) missense probably benign 0.16
R8082:Cntnap5b UTSW 1 100,306,941 (GRCm39) missense probably benign 0.00
R8271:Cntnap5b UTSW 1 99,999,832 (GRCm39) missense probably benign 0.00
R8303:Cntnap5b UTSW 1 100,069,022 (GRCm39) missense probably damaging 1.00
R8428:Cntnap5b UTSW 1 100,311,310 (GRCm39) missense probably damaging 0.98
R9131:Cntnap5b UTSW 1 99,978,368 (GRCm39) missense probably benign 0.22
R9144:Cntnap5b UTSW 1 99,978,512 (GRCm39) missense probably damaging 1.00
R9522:Cntnap5b UTSW 1 100,412,347 (GRCm39) missense probably benign 0.00
R9611:Cntnap5b UTSW 1 99,894,935 (GRCm39) missense probably damaging 1.00
RF007:Cntnap5b UTSW 1 100,091,795 (GRCm39) missense probably damaging 1.00
X0020:Cntnap5b UTSW 1 100,359,573 (GRCm39) critical splice donor site probably null
Z1176:Cntnap5b UTSW 1 100,374,565 (GRCm39) missense probably benign 0.01
Z1176:Cntnap5b UTSW 1 100,091,953 (GRCm39) missense possibly damaging 0.86
Z1176:Cntnap5b UTSW 1 99,894,995 (GRCm39) missense probably damaging 0.99
Z1177:Cntnap5b UTSW 1 99,978,431 (GRCm39) missense probably damaging 0.96
Predicted Primers PCR Primer
(F):5'- TCAGGTTCCTGGTACTCAGTG -3'
(R):5'- GACATTTCTTGACCTTGGTGC -3'

Sequencing Primer
(F):5'- GTACTCAGTGCTGCAGATAATTAGG -3'
(R):5'- ACCTTGGTGCAGTTCTTCATCAGAG -3'
Posted On 2019-06-26