Incidental Mutation 'R9616:Cntnap5a'
ID 724550
Institutional Source Beutler Lab
Gene Symbol Cntnap5a
Ensembl Gene ENSMUSG00000070695
Gene Name contactin associated protein-like 5A
Synonyms Caspr5-1
MMRRC Submission
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R9616 (G1)
Quality Score 225.009
Status Not validated
Chromosome 1
Chromosomal Location 115612486-116515053 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 116029323 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Threonine at position 259 (I259T)
Ref Sequence ENSEMBL: ENSMUSP00000035732 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000043725]
AlphaFold Q0V8T9
Predicted Effect probably benign
Transcript: ENSMUST00000043725
AA Change: I259T

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000035732
Gene: ENSMUSG00000070695
AA Change: I259T

DomainStartEndE-ValueType
signal peptide 1 24 N/A INTRINSIC
FA58C 33 174 1.63e-13 SMART
LamG 201 338 1.4e-26 SMART
LamG 388 522 1.5e-26 SMART
EGF 550 584 2.16e-1 SMART
Blast:FBG 587 772 2e-81 BLAST
LamG 812 939 1.54e-28 SMART
EGF 960 996 2.28e0 SMART
LamG 1037 1173 4.73e-15 SMART
transmembrane domain 1241 1263 N/A INTRINSIC
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 99.0%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene product belongs to the neurexin family, members of which function in the vertebrate nervous system as cell adhesion molecules and receptors. This protein, like other neurexin proteins, contains epidermal growth factor repeats and laminin G domains. In addition, it includes an F5/8 type C domain, discoidin/neuropilin- and fibrinogen-like domains, and thrombospondin N-terminal-like domains. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 91 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
3110040M04Rik T A 1: 151,080,480 (GRCm39) D189E probably benign Het
Abca13 A T 11: 9,240,501 (GRCm39) H788L probably benign Het
Abcb1b A G 5: 8,862,779 (GRCm39) I154V probably benign Het
Acsm4 A G 7: 119,293,872 (GRCm39) N81S probably benign Het
Adamts5 G A 16: 85,659,674 (GRCm39) H873Y probably benign Het
Aox4 C T 1: 58,268,020 (GRCm39) T200I possibly damaging Het
Arhgap33 A G 7: 30,229,367 (GRCm39) V336A probably damaging Het
Brca1 C T 11: 101,416,683 (GRCm39) E484K probably damaging Het
Capn13 T A 17: 73,672,964 (GRCm39) D113V probably benign Het
Catsper2 TAGGATGGCTTTTCTCAGGATAGCTTTTCTCAGGATGGCTTTTCTCAGGATAGCTTTTCTCAGGATGGCTTTTCTCAGGATAGCTTTTCT TAGGATGGCTTTTCTCAGGATAGCTTTTCTCAGGATGGCTTTTCTCAGGATAGCTTTTCT 2: 121,228,053 (GRCm39) probably benign Het
Ceacam3 G A 7: 16,892,078 (GRCm39) E274K Het
Cfh A T 1: 140,030,254 (GRCm39) I891K probably damaging Het
Cgn A G 3: 94,670,332 (GRCm39) S1041P probably damaging Het
Cldn18 T C 9: 99,580,915 (GRCm39) D111G probably benign Het
Cnp G A 11: 100,467,261 (GRCm39) R68Q probably benign Het
Cntn4 T A 6: 106,674,525 (GRCm39) C1008* probably null Het
Cubn A G 2: 13,319,529 (GRCm39) I2897T probably benign Het
Cyp2c39 T A 19: 39,501,648 (GRCm39) L67Q probably damaging Het
Dclk1 G A 3: 55,387,854 (GRCm39) C100Y probably damaging Het
Ddc C T 11: 11,772,288 (GRCm39) W349* probably null Het
Dennd3 A G 15: 73,440,563 (GRCm39) E1198G probably benign Het
Dnah1 T C 14: 31,026,400 (GRCm39) D826G probably null Het
Dpp4 T C 2: 62,217,429 (GRCm39) Y56C probably damaging Het
Etv6 A G 6: 134,243,295 (GRCm39) D350G possibly damaging Het
Fat1 C A 8: 45,406,075 (GRCm39) P942Q probably damaging Het
Fbxl5 A G 5: 43,916,159 (GRCm39) F418L probably benign Het
Fbxo11 T A 17: 88,316,098 (GRCm39) H368L Het
Fhl2 G T 1: 43,167,546 (GRCm39) H182Q probably damaging Het
Gabpa T A 16: 84,649,461 (GRCm39) C223S probably damaging Het
Gigyf2 T C 1: 87,356,326 (GRCm39) I803T unknown Het
Greb1 A T 12: 16,790,038 (GRCm39) N3K probably damaging Het
Hmcn1 T G 1: 150,684,473 (GRCm39) S366R probably benign Het
Il17b A G 18: 61,825,363 (GRCm39) Q133R probably benign Het
Inha T A 1: 75,486,211 (GRCm39) S169T probably benign Het
Itsn1 G A 16: 91,650,055 (GRCm39) R243H probably benign Het
Kcnu1 G GA 8: 26,403,675 (GRCm39) probably null Het
Kdm1b A G 13: 47,234,030 (GRCm39) E788G probably damaging Het
Kdm2a A T 19: 4,370,308 (GRCm39) I1059N probably damaging Het
Klk1b9 G T 7: 43,628,795 (GRCm39) G100C probably benign Het
Knl1 T C 2: 118,899,994 (GRCm39) V565A probably benign Het
Knl1 A T 2: 118,907,425 (GRCm39) N1650Y probably damaging Het
Lpp T C 16: 24,580,719 (GRCm39) V270A probably benign Het
Lrrc15 A G 16: 30,092,517 (GRCm39) L274P probably damaging Het
Mertk C T 2: 128,643,255 (GRCm39) L885F probably benign Het
Mpst T A 15: 78,294,361 (GRCm39) L31* probably null Het
Ms4a10 T C 19: 10,944,440 (GRCm39) T115A possibly damaging Het
Myof A G 19: 37,923,263 (GRCm39) I1330T possibly damaging Het
Ncam2 T C 16: 81,240,142 (GRCm39) I201T probably damaging Het
Nefh T A 11: 4,889,443 (GRCm39) K1059* probably null Het
Nek1 T C 8: 61,473,107 (GRCm39) Y168H probably damaging Het
Nek11 T A 9: 105,082,011 (GRCm39) T531S probably damaging Het
Nelfa G A 5: 34,059,127 (GRCm39) P243S possibly damaging Het
Niban1 T C 1: 151,512,193 (GRCm39) Y32H probably damaging Het
Notum G T 11: 120,550,974 (GRCm39) T64K Het
Or13c7d T A 4: 43,770,193 (GRCm39) K273* probably null Het
Or52b2 A C 7: 104,986,520 (GRCm39) Y134* probably null Het
Or9i16 A G 19: 13,864,861 (GRCm39) S238P probably damaging Het
Otof A G 5: 30,539,708 (GRCm39) I1035T possibly damaging Het
Otud3 A G 4: 138,624,925 (GRCm39) Y259H probably benign Het
Per1 G T 11: 68,993,554 (GRCm39) C368F probably damaging Het
Pitrm1 G T 13: 6,605,602 (GRCm39) R183L probably damaging Het
Prl3a1 C T 13: 27,459,118 (GRCm39) A119V Het
Pycard C T 7: 127,592,776 (GRCm39) G17E probably benign Het
Rnf13 A G 3: 57,740,430 (GRCm39) D249G possibly damaging Het
Sdhaf2 T C 19: 10,494,689 (GRCm39) Y33C probably damaging Het
Sdk2 A G 11: 113,691,061 (GRCm39) V1838A probably benign Het
Sgo2b C T 8: 64,380,274 (GRCm39) V853I probably benign Het
Slc1a4 T C 11: 20,282,403 (GRCm39) T24A probably benign Het
Slc8a1 T C 17: 81,955,407 (GRCm39) T544A probably benign Het
Sntg2 T C 12: 30,326,732 (GRCm39) N143S probably benign Het
Sphkap T C 1: 83,254,989 (GRCm39) E920G probably damaging Het
Srgap2 T A 1: 131,252,828 (GRCm39) H132L Het
Srgap3 A T 6: 112,748,524 (GRCm39) V376D probably damaging Het
Stxbp5l T C 16: 37,036,314 (GRCm39) K434E probably damaging Het
Tab2 A T 10: 7,795,005 (GRCm39) N492K possibly damaging Het
Tbc1d32 T C 10: 56,037,246 (GRCm39) Q666R possibly damaging Het
Tekt4 T C 17: 25,692,782 (GRCm39) probably null Het
Tnni3k G A 3: 154,667,724 (GRCm39) Q230* probably null Het
Trp53bp1 A C 2: 121,066,657 (GRCm39) S690A probably benign Het
Trpa1 C A 1: 14,989,077 (GRCm39) probably benign Het
Trpm1 T G 7: 63,858,132 (GRCm39) V324G probably damaging Het
Usp29 A G 7: 6,966,179 (GRCm39) E674G possibly damaging Het
Vmn2r59 T C 7: 41,661,299 (GRCm39) R839G probably damaging Het
Vmn2r6 A G 3: 64,445,724 (GRCm39) L667P probably damaging Het
Vmn2r91 T A 17: 18,356,305 (GRCm39) F657L possibly damaging Het
Vps13d A G 4: 144,824,701 (GRCm39) V2923A Het
Xylb T A 9: 119,201,022 (GRCm39) L220Q probably damaging Het
Zbtb10 C T 3: 9,316,473 (GRCm39) T95M probably benign Het
Zfp263 C T 16: 3,567,482 (GRCm39) P599L probably damaging Het
Zfp532 A G 18: 65,789,639 (GRCm39) E1026G probably benign Het
Zfp78 A G 7: 6,382,078 (GRCm39) N376S probably benign Het
Other mutations in Cntnap5a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00763:Cntnap5a APN 1 116,045,407 (GRCm39) missense possibly damaging 0.48
IGL00929:Cntnap5a APN 1 115,988,004 (GRCm39) splice site probably null
IGL00959:Cntnap5a APN 1 116,112,057 (GRCm39) missense probably benign 0.00
IGL01721:Cntnap5a APN 1 116,085,367 (GRCm39) missense probably benign
IGL02009:Cntnap5a APN 1 116,085,224 (GRCm39) missense probably benign 0.15
IGL02111:Cntnap5a APN 1 116,017,082 (GRCm39) missense probably benign 0.00
IGL02198:Cntnap5a APN 1 116,508,262 (GRCm39) missense probably benign
IGL02751:Cntnap5a APN 1 116,112,187 (GRCm39) critical splice donor site probably null
IGL02752:Cntnap5a APN 1 116,508,261 (GRCm39) missense probably benign 0.00
IGL02989:Cntnap5a APN 1 116,339,813 (GRCm39) splice site probably benign
IGL03195:Cntnap5a APN 1 116,085,178 (GRCm39) missense probably benign 0.00
PIT4142001:Cntnap5a UTSW 1 115,612,686 (GRCm39) start gained probably benign
R0294:Cntnap5a UTSW 1 115,843,046 (GRCm39) missense probably benign
R0377:Cntnap5a UTSW 1 116,220,259 (GRCm39) missense probably benign 0.04
R0597:Cntnap5a UTSW 1 116,112,191 (GRCm39) splice site probably benign
R0616:Cntnap5a UTSW 1 116,508,279 (GRCm39) missense possibly damaging 0.80
R0725:Cntnap5a UTSW 1 116,220,206 (GRCm39) missense probably benign 0.25
R0842:Cntnap5a UTSW 1 116,369,953 (GRCm39) missense probably damaging 0.96
R1103:Cntnap5a UTSW 1 116,508,399 (GRCm39) missense possibly damaging 0.81
R1265:Cntnap5a UTSW 1 116,356,248 (GRCm39) missense possibly damaging 0.49
R1467:Cntnap5a UTSW 1 115,612,898 (GRCm39) nonsense probably null
R1467:Cntnap5a UTSW 1 115,612,898 (GRCm39) nonsense probably null
R1470:Cntnap5a UTSW 1 116,187,249 (GRCm39) missense probably damaging 1.00
R1470:Cntnap5a UTSW 1 116,187,249 (GRCm39) missense probably damaging 1.00
R1474:Cntnap5a UTSW 1 116,370,103 (GRCm39) nonsense probably null
R1476:Cntnap5a UTSW 1 115,828,750 (GRCm39) missense probably damaging 1.00
R1481:Cntnap5a UTSW 1 116,045,393 (GRCm39) missense probably damaging 1.00
R1512:Cntnap5a UTSW 1 115,828,680 (GRCm39) missense probably benign
R1526:Cntnap5a UTSW 1 116,356,207 (GRCm39) missense probably benign
R1589:Cntnap5a UTSW 1 115,987,930 (GRCm39) missense possibly damaging 0.77
R1603:Cntnap5a UTSW 1 116,339,831 (GRCm39) missense possibly damaging 0.80
R1728:Cntnap5a UTSW 1 116,382,873 (GRCm39) missense probably benign 0.01
R1728:Cntnap5a UTSW 1 116,382,734 (GRCm39) missense probably benign 0.00
R1728:Cntnap5a UTSW 1 116,382,831 (GRCm39) missense probably benign 0.00
R1729:Cntnap5a UTSW 1 116,382,873 (GRCm39) missense probably benign 0.01
R1729:Cntnap5a UTSW 1 116,382,734 (GRCm39) missense probably benign 0.00
R1729:Cntnap5a UTSW 1 116,382,831 (GRCm39) missense probably benign 0.00
R1730:Cntnap5a UTSW 1 116,382,873 (GRCm39) missense probably benign 0.01
R1730:Cntnap5a UTSW 1 116,382,734 (GRCm39) missense probably benign 0.00
R1730:Cntnap5a UTSW 1 116,382,831 (GRCm39) missense probably benign 0.00
R1739:Cntnap5a UTSW 1 116,382,873 (GRCm39) missense probably benign 0.01
R1739:Cntnap5a UTSW 1 116,382,734 (GRCm39) missense probably benign 0.00
R1739:Cntnap5a UTSW 1 116,382,831 (GRCm39) missense probably benign 0.00
R1762:Cntnap5a UTSW 1 116,382,831 (GRCm39) missense probably benign 0.00
R1762:Cntnap5a UTSW 1 116,382,873 (GRCm39) missense probably benign 0.01
R1762:Cntnap5a UTSW 1 116,382,734 (GRCm39) missense probably benign 0.00
R1783:Cntnap5a UTSW 1 116,382,873 (GRCm39) missense probably benign 0.01
R1783:Cntnap5a UTSW 1 116,382,734 (GRCm39) missense probably benign 0.00
R1783:Cntnap5a UTSW 1 116,382,831 (GRCm39) missense probably benign 0.00
R1785:Cntnap5a UTSW 1 116,382,734 (GRCm39) missense probably benign 0.00
R1785:Cntnap5a UTSW 1 116,382,831 (GRCm39) missense probably benign 0.00
R1785:Cntnap5a UTSW 1 116,382,873 (GRCm39) missense probably benign 0.01
R1816:Cntnap5a UTSW 1 116,356,618 (GRCm39) missense probably benign 0.19
R1872:Cntnap5a UTSW 1 116,016,940 (GRCm39) missense probably benign 0.02
R2095:Cntnap5a UTSW 1 116,369,990 (GRCm39) missense probably damaging 1.00
R2113:Cntnap5a UTSW 1 116,116,095 (GRCm39) missense probably damaging 0.98
R2144:Cntnap5a UTSW 1 116,029,440 (GRCm39) missense probably benign 0.14
R2171:Cntnap5a UTSW 1 116,116,132 (GRCm39) missense possibly damaging 0.95
R2219:Cntnap5a UTSW 1 116,508,369 (GRCm39) missense possibly damaging 0.83
R2220:Cntnap5a UTSW 1 116,508,369 (GRCm39) missense possibly damaging 0.83
R2571:Cntnap5a UTSW 1 116,112,092 (GRCm39) missense probably damaging 1.00
R3019:Cntnap5a UTSW 1 116,029,299 (GRCm39) missense probably benign
R3827:Cntnap5a UTSW 1 116,045,409 (GRCm39) missense probably benign 0.14
R3870:Cntnap5a UTSW 1 115,987,979 (GRCm39) missense probably damaging 1.00
R3871:Cntnap5a UTSW 1 115,987,979 (GRCm39) missense probably damaging 1.00
R4041:Cntnap5a UTSW 1 116,112,129 (GRCm39) missense probably benign 0.00
R4080:Cntnap5a UTSW 1 116,029,304 (GRCm39) missense probably benign 0.01
R4260:Cntnap5a UTSW 1 116,374,325 (GRCm39) missense probably benign 0.31
R4685:Cntnap5a UTSW 1 116,374,410 (GRCm39) missense possibly damaging 0.69
R4781:Cntnap5a UTSW 1 116,339,931 (GRCm39) missense possibly damaging 0.88
R4785:Cntnap5a UTSW 1 116,029,295 (GRCm39) missense probably benign 0.00
R5057:Cntnap5a UTSW 1 115,612,943 (GRCm39) missense probably benign 0.10
R5059:Cntnap5a UTSW 1 116,356,224 (GRCm39) missense probably benign 0.44
R5101:Cntnap5a UTSW 1 116,370,026 (GRCm39) missense probably benign 0.00
R5302:Cntnap5a UTSW 1 116,085,300 (GRCm39) missense probably benign 0.15
R5451:Cntnap5a UTSW 1 115,612,873 (GRCm39) missense probably benign
R5473:Cntnap5a UTSW 1 116,016,986 (GRCm39) missense probably benign 0.12
R5886:Cntnap5a UTSW 1 116,499,402 (GRCm39) critical splice donor site probably null
R6311:Cntnap5a UTSW 1 116,339,836 (GRCm39) nonsense probably null
R6464:Cntnap5a UTSW 1 116,112,138 (GRCm39) missense probably benign
R6497:Cntnap5a UTSW 1 116,505,627 (GRCm39) missense probably damaging 1.00
R6781:Cntnap5a UTSW 1 116,220,127 (GRCm39) missense probably benign 0.05
R7137:Cntnap5a UTSW 1 116,017,106 (GRCm39) missense probably damaging 1.00
R7290:Cntnap5a UTSW 1 116,149,619 (GRCm39) missense probably damaging 1.00
R7342:Cntnap5a UTSW 1 115,987,852 (GRCm39) missense probably benign 0.00
R7367:Cntnap5a UTSW 1 116,370,025 (GRCm39) missense probably benign 0.00
R7373:Cntnap5a UTSW 1 116,508,367 (GRCm39) missense probably benign 0.20
R7426:Cntnap5a UTSW 1 116,370,110 (GRCm39) missense probably benign 0.03
R7444:Cntnap5a UTSW 1 116,220,079 (GRCm39) missense probably benign
R7582:Cntnap5a UTSW 1 116,374,362 (GRCm39) missense probably damaging 1.00
R7745:Cntnap5a UTSW 1 116,370,013 (GRCm39) missense probably benign
R7948:Cntnap5a UTSW 1 116,508,258 (GRCm39) missense probably benign 0.01
R7995:Cntnap5a UTSW 1 116,499,277 (GRCm39) missense probably damaging 0.99
R8041:Cntnap5a UTSW 1 116,187,209 (GRCm39) missense probably damaging 0.99
R8262:Cntnap5a UTSW 1 116,116,140 (GRCm39) missense possibly damaging 0.66
R8273:Cntnap5a UTSW 1 116,499,271 (GRCm39) missense probably damaging 1.00
R8320:Cntnap5a UTSW 1 116,374,466 (GRCm39) missense possibly damaging 0.62
R9242:Cntnap5a UTSW 1 116,220,109 (GRCm39) missense probably benign 0.06
R9470:Cntnap5a UTSW 1 116,374,344 (GRCm39) missense probably damaging 1.00
R9601:Cntnap5a UTSW 1 116,508,217 (GRCm39) missense probably damaging 0.96
R9623:Cntnap5a UTSW 1 116,369,985 (GRCm39) nonsense probably null
Z1088:Cntnap5a UTSW 1 115,987,981 (GRCm39) missense probably benign 0.08
Z1176:Cntnap5a UTSW 1 116,356,246 (GRCm39) missense probably damaging 1.00
Z1177:Cntnap5a UTSW 1 116,339,898 (GRCm39) missense probably benign 0.03
Z1188:Cntnap5a UTSW 1 116,445,935 (GRCm39) missense possibly damaging 0.70
Predicted Primers PCR Primer
(F):5'- CCCAGTAGTCTGCAAGGTAG -3'
(R):5'- CACATGGAGGGGCTTAAACAC -3'

Sequencing Primer
(F):5'- TCTGCAAGGTAGAGAGACAGCTTG -3'
(R):5'- GGAGGGGCTTAAACACTCTATATAC -3'
Posted On 2022-09-12