Incidental Mutation 'R2171:Cntnap5a'
ID 237454
Institutional Source Beutler Lab
Gene Symbol Cntnap5a
Ensembl Gene ENSMUSG00000070695
Gene Name contactin associated protein-like 5A
Synonyms Caspr5-1
MMRRC Submission 040173-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R2171 (G1)
Quality Score 225
Status Not validated
Chromosome 1
Chromosomal Location 115612486-116515053 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 116116132 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 538 (D538G)
Ref Sequence ENSEMBL: ENSMUSP00000035732 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000043725]
AlphaFold Q0V8T9
Predicted Effect possibly damaging
Transcript: ENSMUST00000043725
AA Change: D538G

PolyPhen 2 Score 0.946 (Sensitivity: 0.80; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000035732
Gene: ENSMUSG00000070695
AA Change: D538G

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: 99.2%
  • 3x: 98.7%
  • 10x: 97.5%
  • 20x: 95.7%
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: 56 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abt1 A G 13: 23,606,387 (GRCm39) L189P probably damaging Het
Adgrl3 C A 5: 81,660,362 (GRCm39) S377* probably null Het
Adgrv1 A G 13: 81,419,037 (GRCm39) V5986A probably damaging Het
Arv1 T G 8: 125,455,094 (GRCm39) C102W probably damaging Het
Asb18 T C 1: 89,896,419 (GRCm39) H207R probably benign Het
Bach2 T C 4: 32,501,662 (GRCm39) V13A probably damaging Het
Bccip T C 7: 133,320,843 (GRCm39) S206P probably benign Het
Cdhr4 T C 9: 107,870,117 (GRCm39) S41P probably benign Het
Chd7 A G 4: 8,752,424 (GRCm39) Y307C probably damaging Het
Clec4f A T 6: 83,629,846 (GRCm39) S237R possibly damaging Het
Col9a2 T A 4: 120,902,198 (GRCm39) C173* probably null Het
Ctr9 T A 7: 110,646,117 (GRCm39) M703K possibly damaging Het
Cyp2a12 A G 7: 26,729,057 (GRCm39) Y83C probably damaging Het
Eef1akmt3 A C 10: 126,868,843 (GRCm39) D210E probably benign Het
Erbin A G 13: 103,971,466 (GRCm39) F717L probably benign Het
Gtf3a A G 5: 146,892,272 (GRCm39) N341S probably benign Het
Hltf T C 3: 20,113,245 (GRCm39) V6A probably damaging Het
Itga6 T A 2: 71,650,358 (GRCm39) Y135N probably damaging Het
Krt73 T C 15: 101,709,345 (GRCm39) Q154R possibly damaging Het
Lce1a1 C T 3: 92,554,048 (GRCm39) C142Y unknown Het
Lcorl A T 5: 45,904,493 (GRCm39) I112N probably damaging Het
Ltbp1 C T 17: 75,598,312 (GRCm39) H916Y probably damaging Het
Lypla2 T C 4: 135,697,915 (GRCm39) probably null Het
Man1c1 G C 4: 134,430,749 (GRCm39) P11R probably damaging Het
Mmp1a T A 9: 7,475,357 (GRCm39) D375E probably damaging Het
Nlrp14 T G 7: 106,781,709 (GRCm39) L302R probably damaging Het
Npy2r T G 3: 82,447,708 (GRCm39) T243P possibly damaging Het
Or11h4 A T 14: 50,973,876 (GRCm39) S248T probably benign Het
Or51k2 T C 7: 103,595,992 (GRCm39) V73A probably damaging Het
Paqr9 A T 9: 95,442,931 (GRCm39) H307L probably damaging Het
Phc3 T C 3: 31,005,078 (GRCm39) T172A probably damaging Het
Pigs A G 11: 78,219,638 (GRCm39) T39A probably damaging Het
Pik3c2g C T 6: 139,801,012 (GRCm39) Q386* probably null Het
Pira2 T C 7: 3,847,417 (GRCm39) S91G probably benign Het
Plxna2 T A 1: 194,482,925 (GRCm39) N1539K probably damaging Het
Poc5 C T 13: 96,547,257 (GRCm39) H507Y probably damaging Het
Pou2f1 A T 1: 165,707,925 (GRCm39) probably benign Het
Pthlh T G 6: 147,158,694 (GRCm39) K89Q probably damaging Het
Rims4 A T 2: 163,706,046 (GRCm39) probably null Het
Rnf138 A G 18: 21,159,143 (GRCm39) N188D probably damaging Het
Rreb1 A G 13: 38,114,822 (GRCm39) D727G probably benign Het
Sc5d T G 9: 42,166,682 (GRCm39) K286Q probably benign Het
Slc10a5 C T 3: 10,400,342 (GRCm39) G106D possibly damaging Het
Smg6 A T 11: 74,929,472 (GRCm39) Q967L probably damaging Het
Spty2d1 C T 7: 46,644,361 (GRCm39) R636H probably damaging Het
Srms A T 2: 180,850,573 (GRCm39) Y195* probably null Het
Susd4 A G 1: 182,719,759 (GRCm39) D458G probably benign Het
Tecta T C 9: 42,270,220 (GRCm39) R1363G probably damaging Het
Thbs1 G A 2: 117,953,060 (GRCm39) G890D probably damaging Het
Tpp2 T C 1: 43,996,606 (GRCm39) V317A probably benign Het
Ttpa T C 4: 20,021,357 (GRCm39) V175A probably damaging Het
Vps13b G T 15: 35,887,343 (GRCm39) D3251Y probably benign Het
Vps54 A G 11: 21,248,810 (GRCm39) D441G probably benign Het
Zfp738 A T 13: 67,819,096 (GRCm39) Y298* probably null Het
Zfp804a G A 2: 82,087,527 (GRCm39) C452Y possibly damaging Het
Zxdc A G 6: 90,359,461 (GRCm39) K698E possibly damaging 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
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
R9616:Cntnap5a UTSW 1 116,029,323 (GRCm39) missense probably benign
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'- TAGGTTGCCAAATCAATGACCTATC -3'
(R):5'- TTTTCAATGGGCCTGAAATCC -3'

Sequencing Primer
(F):5'- ATGACCTATCATTTCAGTGCTTTTC -3'
(R):5'- TGTGGCTACTGTCTACAG -3'
Posted On 2014-10-02