Incidental Mutation 'R6336:Cntnap5b'
ID 510737
Institutional Source Beutler Lab
Gene Symbol Cntnap5b
Ensembl Gene ENSMUSG00000067028
Gene Name contactin associated protein-like 5B
Synonyms C230078M14Rik, Caspr5-2
MMRRC Submission 044490-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.158) question?
Stock # R6336 (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 T at 100286394 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Alanine to Valine at position 383 (A383V)
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: A697V

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000083944
Gene: ENSMUSG00000067028
AA Change: A697V

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 noncoding transcript
Transcript: ENSMUST00000185484
Predicted Effect probably benign
Transcript: ENSMUST00000188735
AA Change: A383V

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000139877
Gene: ENSMUSG00000067028
AA Change: A383V

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
Meta Mutation Damage Score 0.0846 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.4%
  • 20x: 98.0%
Validation Efficiency 98% (45/46)
Allele List at MGI
Other mutations in this stock
Total: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2900026A02Rik G T 5: 113,331,349 (GRCm39) P955Q possibly damaging Het
Adgrv1 T C 13: 81,534,100 (GRCm39) N5827S probably benign Het
Akt3 T C 1: 176,859,278 (GRCm39) D431G probably damaging Het
Anapc16 A T 10: 59,824,651 (GRCm39) V76D possibly damaging Het
Ankib1 A T 5: 3,750,377 (GRCm39) Y755* probably null Het
Ankrd6 A G 4: 32,860,411 (GRCm39) S11P probably damaging Het
Card6 T A 15: 5,128,646 (GRCm39) K917* probably null Het
Ccdc152 T C 15: 3,330,611 (GRCm39) I21M probably damaging Het
Ccdc40 A G 11: 119,122,819 (GRCm39) E207G possibly damaging Het
Clca3a2 G T 3: 144,512,239 (GRCm39) A499E probably benign Het
Ddo T C 10: 40,509,027 (GRCm39) V89A probably damaging Het
Depdc5 T C 5: 33,121,851 (GRCm39) 176 probably null Het
Dlgap1 T A 17: 71,122,284 (GRCm39) D904E probably damaging Het
Ephb4 T A 5: 137,370,347 (GRCm39) L849H probably damaging Het
Fbxl13 A G 5: 21,728,545 (GRCm39) probably null Het
Fer1l6 C A 15: 58,431,081 (GRCm39) Y245* probably null Het
Foxred2 A G 15: 77,839,964 (GRCm39) Y109H probably damaging Het
Gabarapl1 A G 6: 129,514,491 (GRCm39) D43G probably benign Het
Gabrb1 A C 5: 72,187,241 (GRCm39) E178A possibly damaging Het
Gbp11 A G 5: 105,473,355 (GRCm39) Het
Grin3b C A 10: 79,812,295 (GRCm39) A845E probably damaging Het
Hoxd4 A G 2: 74,557,705 (GRCm39) Y28C probably damaging Het
Igsf10 G A 3: 59,237,760 (GRCm39) T807M probably benign Het
Kcnt1 A G 2: 25,778,767 (GRCm39) probably null Het
Kdm5a C A 6: 120,375,939 (GRCm39) T565K probably damaging Het
Map7d1 A G 4: 126,130,475 (GRCm39) S412P probably damaging Het
Mok A G 12: 110,800,558 (GRCm39) probably null Het
Mto1 A T 9: 78,381,117 (GRCm39) I73F probably damaging Het
Mtss2 G A 8: 111,458,796 (GRCm39) D310N probably damaging Het
Ncf2 T C 1: 152,709,821 (GRCm39) Y393H probably damaging Het
Or13c25 A T 4: 52,911,459 (GRCm39) C112S probably damaging Het
Or2f1b T C 6: 42,739,591 (GRCm39) S202P probably damaging Het
Or2y14 G T 11: 49,405,369 (GRCm39) K301N probably damaging Het
Or4f47 A C 2: 111,972,751 (GRCm39) I154L probably benign Het
Or4k49 A G 2: 111,494,964 (GRCm39) H131R possibly damaging Het
Or52z1 T C 7: 103,437,452 (GRCm39) T11A possibly damaging Het
Phxr2 T A 10: 98,961,952 (GRCm39) probably benign Het
Potefam3f A G 8: 20,499,951 (GRCm39) K242E unknown Het
Rnf17 A G 14: 56,658,626 (GRCm39) probably null Het
Serpinb9d T C 13: 33,378,677 (GRCm39) M41T probably damaging Het
Slc12a5 T A 2: 164,834,384 (GRCm39) probably null Het
Slc22a6 G A 19: 8,599,494 (GRCm39) R331H probably benign Het
Spg11 G C 2: 121,943,440 (GRCm39) probably null Het
Src T A 2: 157,299,075 (GRCm39) V24E probably benign Het
Srgap1 A T 10: 121,761,846 (GRCm39) Y101N probably benign Het
Vmn2r30 T A 7: 7,337,307 (GRCm39) T110S probably benign Het
Vwa3a A G 7: 120,361,646 (GRCm39) E119G possibly damaging Het
Whamm T A 7: 81,241,512 (GRCm39) D274E 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
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
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'- ATCAAGTTGAGTGTCTGTCTTTGAC -3'
(R):5'- TTACTAACTGGTGGTCAAGGCAC -3'

Sequencing Primer
(F):5'- ACTCTTAATGGTTTCATTTATCAGCC -3'
(R):5'- CTGGTGGTCAAGGCACAGAAC -3'
Posted On 2018-04-02