Incidental Mutation 'R6957:Cntnap5b'
ID 541484
Institutional Source Beutler Lab
Gene Symbol Cntnap5b
Ensembl Gene ENSMUSG00000067028
Gene Name contactin associated protein-like 5B
Synonyms C230078M14Rik, Caspr5-2
MMRRC Submission 045068-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.158) question?
Stock # R6957 (G1)
Quality Score 225.009
Status Not validated
Chromosome 1
Chromosomal Location 99700490-100413667 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 100202197 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 348 (E348G)
Ref Sequence ENSEMBL: ENSMUSP00000139877 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000086738] [ENSMUST00000188735]
AlphaFold Q0V8T8
Predicted Effect probably benign
Transcript: ENSMUST00000086738
AA Change: E662G

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000083944
Gene: ENSMUSG00000067028
AA Change: E662G

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
Predicted Effect probably benign
Transcript: ENSMUST00000188735
AA Change: E348G

PolyPhen 2 Score 0.080 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000139877
Gene: ENSMUSG00000067028
AA Change: E348G

DomainStartEndE-ValueType
LamG 73 207 5.9e-29 SMART
EGF 235 269 5.6e-3 SMART
Blast:FBG 272 402 2e-42 BLAST
LamG 415 554 2.5e-11 SMART
EGF 575 611 7.1e-3 SMART
LamG 652 788 1.4e-15 SMART
transmembrane domain 856 878 N/A INTRINSIC
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.4%
  • 20x: 98.0%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 77 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2310009B15Rik A G 1: 138,779,857 (GRCm39) S132P probably damaging Het
Abcb5 A G 12: 118,871,270 (GRCm39) F710L probably damaging Het
Acsm4 T G 7: 119,310,622 (GRCm39) V503G probably damaging Het
Adam26a T A 8: 44,021,940 (GRCm39) M517L probably benign Het
Adcy10 C A 1: 165,391,854 (GRCm39) L1345I probably damaging Het
Adgrv1 T C 13: 81,715,609 (GRCm39) I860V probably benign Het
Alcam T C 16: 52,097,257 (GRCm39) D333G probably damaging Het
Amt C A 9: 108,177,032 (GRCm39) F213L possibly damaging Het
Ascc3 A G 10: 50,604,278 (GRCm39) T1333A probably damaging Het
Asxl3 C A 18: 22,655,148 (GRCm39) L1053I probably damaging Het
Atxn10 T C 15: 85,220,699 (GRCm39) S12P probably damaging Het
AU021092 T C 16: 5,030,017 (GRCm39) I333V probably benign Het
Birc6 A G 17: 74,886,486 (GRCm39) I577V probably benign Het
Cadm2 A T 16: 66,609,726 (GRCm39) F132I probably benign Het
Casp3 T A 8: 47,087,308 (GRCm39) V85D probably damaging Het
Ccdc168 C T 1: 44,096,367 (GRCm39) C1577Y probably benign Het
Ccdc85a A T 11: 28,342,944 (GRCm39) probably benign Het
Cd22 T C 7: 30,566,999 (GRCm39) R760G possibly damaging Het
Cela3a A T 4: 137,135,441 (GRCm39) W41R probably damaging Het
Cep164 A G 9: 45,683,578 (GRCm39) probably null Het
Ddx20 C A 3: 105,591,626 (GRCm39) K181N probably benign Het
Dnah14 G C 1: 181,612,740 (GRCm39) A3846P possibly damaging Het
Ern1 A C 11: 106,294,365 (GRCm39) I813S probably damaging Het
Fam181a G A 12: 103,282,773 (GRCm39) G226D probably damaging Het
Fam186a T A 15: 99,844,357 (GRCm39) D629V unknown Het
Gipr T A 7: 18,898,529 (GRCm39) T26S probably benign Het
Gm3159 A G 14: 4,398,530 (GRCm38) R74G possibly damaging Het
Greb1l G A 18: 10,558,786 (GRCm39) V1814I probably benign Het
Hacd1 A T 2: 14,049,664 (GRCm39) V98E probably damaging Het
Iars1 T G 13: 49,875,637 (GRCm39) F775V probably damaging Het
Il12rb2 G A 6: 67,269,636 (GRCm39) L726F possibly damaging Het
Itih4 T C 14: 30,614,560 (GRCm39) V474A probably damaging Het
Kmt2a A C 9: 44,731,319 (GRCm39) probably benign Het
Ktn1 T A 14: 47,904,810 (GRCm39) L196* probably null Het
Lipo4 A G 19: 33,476,767 (GRCm39) V327A probably benign Het
Lratd2 T C 15: 60,694,934 (GRCm39) T271A probably benign Het
Lrit1 G C 14: 36,782,052 (GRCm39) V242L probably damaging Het
Lrp4 C A 2: 91,317,387 (GRCm39) T837K probably damaging Het
Mad1l1 G T 5: 140,051,572 (GRCm39) F664L probably damaging Het
Mecr A G 4: 131,589,172 (GRCm39) T247A probably benign Het
Msi1 G A 5: 115,583,483 (GRCm39) A228T probably benign Het
Mup5 T A 4: 61,751,273 (GRCm39) N125I probably damaging Het
Mybl2 C T 2: 162,914,728 (GRCm39) S282F possibly damaging Het
Myom2 G A 8: 15,167,741 (GRCm39) A1109T probably null Het
Nalcn T C 14: 123,744,966 (GRCm39) D354G probably damaging Het
Nckap1l T C 15: 103,399,938 (GRCm39) V1040A possibly damaging Het
Nlrp12 T A 7: 3,271,160 (GRCm39) D1051V probably damaging Het
Nudt7 A G 8: 114,860,385 (GRCm39) K16R probably benign Het
Or4b1 G T 2: 89,979,494 (GRCm39) Y285* probably null Het
Or8g29-ps1 A G 9: 39,200,577 (GRCm39) V203A unknown Het
Paqr3 A T 5: 97,256,110 (GRCm39) I88K possibly damaging Het
Parp9 A G 16: 35,768,716 (GRCm39) M299V probably benign Het
Pde4dip A T 3: 97,731,649 (GRCm39) probably null Het
Pex13 T G 11: 23,605,628 (GRCm39) M201L probably benign Het
Pfas C A 11: 68,884,709 (GRCm39) V498L probably benign Het
Phka2 G A X: 159,316,044 (GRCm39) V230I probably damaging Het
Plec T A 15: 76,070,414 (GRCm39) D932V probably damaging Het
Qng1 C A 13: 58,529,775 (GRCm39) C279F probably damaging Het
Qsox2 C T 2: 26,107,654 (GRCm39) A445T probably benign Het
Rapgef1 C A 2: 29,623,710 (GRCm39) Q820K possibly damaging Het
Samd13 A G 3: 146,368,424 (GRCm39) probably null Het
Samm50 G T 15: 84,082,850 (GRCm39) D104Y probably damaging Het
Sbk3 A T 7: 4,970,522 (GRCm39) F282L probably benign Het
Sfmbt1 C T 14: 30,509,546 (GRCm39) H342Y probably benign Het
Sgo2b CCATCATCATCATCATCATCAT CCATCATCATCATCATCAT 8: 64,384,489 (GRCm39) probably benign Het
Slc12a2 T A 18: 58,043,344 (GRCm39) L596* probably null Het
Spata31h1 A T 10: 82,129,620 (GRCm39) I1130K probably benign Het
St8sia3 T C 18: 64,404,853 (GRCm39) S377P probably benign Het
Stmnd1 T G 13: 46,427,375 (GRCm39) S28A probably benign Het
Syne3 A T 12: 104,920,561 (GRCm39) L458Q probably damaging Het
Synm C T 7: 67,385,848 (GRCm39) V163I probably benign Het
Tbc1d23 A G 16: 57,028,686 (GRCm39) C161R probably damaging Het
Tnfrsf4 G A 4: 156,100,625 (GRCm39) V215I probably benign Het
Vars2 T G 17: 35,977,967 (GRCm39) K67Q probably benign Het
Vmn2r13 A T 5: 109,304,753 (GRCm39) Y559* probably null Het
Wdpcp T C 11: 21,671,154 (GRCm39) I465T possibly damaging Het
Zwilch A C 9: 64,069,844 (GRCm39) probably null 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
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'- ACTGCTTTGTCCTTTGAGTGAC -3'
(R):5'- GAAAGAGCATTGTGACCCAC -3'

Sequencing Primer
(F):5'- AGTGACTCATGTTTATGTACTCTTGC -3'
(R):5'- GAGCACTCCACATCAGTCTTGGAG -3'
Posted On 2018-11-28