Incidental Mutation 'R4609:Cntnap5b'
ID 344487
Institutional Source Beutler Lab
Gene Symbol Cntnap5b
Ensembl Gene ENSMUSG00000067028
Gene Name contactin associated protein-like 5B
Synonyms C230078M14Rik, Caspr5-2
MMRRC Submission 041820-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.158) question?
Stock # R4609 (G1)
Quality Score 225
Status Validated
Chromosome 1
Chromosomal Location 99700490-100413667 bp(+) (GRCm39)
Type of Mutation critical splice donor site (1 bp from exon)
DNA Base Change (assembly) G to A at 99700572 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000083944 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000086738]
AlphaFold Q0V8T8
Predicted Effect probably null
Transcript: ENSMUST00000086738
SMART Domains Protein: ENSMUSP00000083944
Gene: ENSMUSG00000067028

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
Meta Mutation Damage Score 0.9489 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 94.9%
Validation Efficiency 99% (78/79)
Allele List at MGI
Other mutations in this stock
Total: 77 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
7530416G11Rik T C 15: 85,378,370 (GRCm39) D91G unknown Het
Adam10 T C 9: 70,647,425 (GRCm39) Y42H probably damaging Het
Baiap3 A T 17: 25,469,235 (GRCm39) C183S probably damaging Het
Bbs10 A G 10: 111,136,995 (GRCm39) K703E probably benign Het
Bmp1 C T 14: 70,715,406 (GRCm39) V910M probably benign Het
Brdt G A 5: 107,507,802 (GRCm39) A677T probably benign Het
Cadps2 A T 6: 23,587,578 (GRCm39) M304K probably damaging Het
Car9 A T 4: 43,507,267 (GRCm39) D71V possibly damaging Het
Chml A T 1: 175,514,723 (GRCm39) Y399* probably null Het
Cilk1 T A 9: 78,075,071 (GRCm39) probably benign Het
Clasp1 A G 1: 118,430,765 (GRCm39) probably benign Het
Cpvl A T 6: 53,951,605 (GRCm39) probably null Het
Crocc2 G A 1: 93,096,516 (GRCm39) V24M possibly damaging Het
Cxcl16 T C 11: 70,346,255 (GRCm39) Y226C probably damaging Het
Dio3 G T 12: 110,246,444 (GRCm39) R260L probably damaging Het
Dmxl2 A G 9: 54,353,796 (GRCm39) L724P probably damaging Het
Dnah7a A C 1: 53,495,816 (GRCm39) F3214V possibly damaging Het
Dpy19l4 A T 4: 11,295,999 (GRCm39) Y223* probably null Het
Dpysl4 T C 7: 138,678,537 (GRCm39) V499A probably damaging Het
Ets2 A T 16: 95,512,818 (GRCm39) K101N probably benign Het
Fbn2 A T 18: 58,323,341 (GRCm39) Y200* probably null Het
Fem1c A T 18: 46,639,015 (GRCm39) I329N probably damaging Het
Fhip1b A G 7: 105,037,431 (GRCm39) I384T probably damaging Het
Gm8919 T C 3: 11,724,530 (GRCm39) noncoding transcript Het
H2-Q5 A T 17: 35,616,056 (GRCm39) H206L probably benign Het
Hexa T C 9: 59,464,602 (GRCm39) F164S probably benign Het
Hk1 G T 10: 62,194,194 (GRCm39) probably benign Het
Itih4 G A 14: 30,623,626 (GRCm39) G915R probably damaging Het
Kcnq5 A T 1: 21,475,292 (GRCm39) probably null Het
Krtap10-4 A T 10: 77,662,630 (GRCm39) probably benign Het
Maml3 G T 3: 51,763,013 (GRCm39) H650Q probably damaging Het
Mief1 C A 15: 80,132,454 (GRCm39) P112Q probably benign Het
Morc3 A G 16: 93,661,856 (GRCm39) E472G probably benign Het
Nap1l1 T A 10: 111,328,741 (GRCm39) Y223* probably null Het
Nfix A T 8: 85,453,119 (GRCm39) W312R probably damaging Het
Nfkbie A T 17: 45,869,510 (GRCm39) N155I probably damaging Het
Nlgn2 A T 11: 69,724,912 (GRCm39) M118K probably damaging Het
Nlrp5 A T 7: 23,117,173 (GRCm39) Y299F probably benign Het
Nnt T C 13: 119,494,072 (GRCm39) I556V possibly damaging Het
Oasl2 A T 5: 115,037,857 (GRCm39) I85F possibly damaging Het
Ogg1 A C 6: 113,305,393 (GRCm39) T69P probably damaging Het
Olfml2a G T 2: 38,847,733 (GRCm39) V431L probably damaging Het
Or4d5 T C 9: 40,012,102 (GRCm39) H228R possibly damaging Het
Or5p79 A T 7: 108,221,711 (GRCm39) M231L probably benign Het
Palb2 G T 7: 121,723,946 (GRCm39) A601E probably benign Het
Pcdhb20 G A 18: 37,638,849 (GRCm39) M458I probably benign Het
Pde11a T C 2: 76,121,585 (GRCm39) D332G possibly damaging Het
Pkd1l1 C T 11: 8,908,964 (GRCm39) E347K unknown Het
Pou2af1 G A 9: 51,149,525 (GRCm39) V206I possibly damaging Het
Prr16 A G 18: 51,251,139 (GRCm39) D46G possibly damaging Het
Pus1 A G 5: 110,928,184 (GRCm39) M1T probably null Het
Pygm T A 19: 6,441,439 (GRCm39) V566D possibly damaging Het
Rb1 T A 14: 73,499,954 (GRCm39) probably benign Het
Rhoj A T 12: 75,446,980 (GRCm39) K200* probably null Het
Rnf213 A G 11: 119,328,521 (GRCm39) I1985V possibly damaging Het
Septin11 G T 5: 93,310,113 (GRCm39) M305I possibly damaging Het
Setdb2 T C 14: 59,653,153 (GRCm39) Y383C probably damaging Het
Sfpq G C 4: 126,915,404 (GRCm39) Q65H unknown Het
Skic8 A G 9: 54,635,463 (GRCm39) V46A probably benign Het
Stard3nl G T 13: 19,554,434 (GRCm39) A180E probably damaging Het
Tanc2 A G 11: 105,801,066 (GRCm39) N1094S probably benign Het
Trf C T 9: 103,089,184 (GRCm39) A554T possibly damaging Het
Trmt13 T C 3: 116,388,476 (GRCm39) probably benign Het
Tubb3 A G 8: 124,147,658 (GRCm39) D197G probably damaging Het
Ube2e3 A G 2: 78,749,056 (GRCm39) H135R probably damaging Het
Ugt1a10 A T 1: 87,983,204 (GRCm39) M1L possibly damaging Het
Vmn1r233 A T 17: 21,214,677 (GRCm39) I91N possibly damaging Het
Vmn2r88 A T 14: 51,655,531 (GRCm39) D580V probably damaging Het
Vps33b A G 7: 79,940,866 (GRCm39) Y593C probably benign Het
Wdr19 A G 5: 65,385,885 (GRCm39) T622A possibly damaging Het
Wdr3 C T 3: 100,047,516 (GRCm39) R853Q probably damaging Het
Xirp1 T C 9: 119,845,572 (GRCm39) T1104A probably benign Het
Yipf1 G A 4: 107,201,880 (GRCm39) probably null Het
Zbtb17 A G 4: 141,193,809 (GRCm39) D651G probably damaging Het
Zbtb42 C T 12: 112,646,976 (GRCm39) R384W probably damaging Het
Zbtb43 A T 2: 33,344,055 (GRCm39) M390K probably benign Het
Zfp462 C T 4: 55,011,889 (GRCm39) T1285M probably damaging 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
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 1 100,311,124 (GRCm39) missense probably benign 0.27
R5579:Cntnap5b UTSW 1 100,311,120 (GRCm39) nonsense probably null
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
R7165:Cntnap5b UTSW 1 100,003,887 (GRCm39) missense possibly damaging 0.94
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'- TTTCAGTGGAGGATCTGAGAAGC -3'
(R):5'- AGCAGAGCAAGCTCCTTACAG -3'

Sequencing Primer
(F):5'- TGAAGGAGAAGAGTGTCTGTTTAAG -3'
(R):5'- AGAGCAAGCTCCTTACAGTTCTG -3'
Posted On 2015-09-25