Incidental Mutation 'R6147:Cntn5'
ID 488955
Institutional Source Beutler Lab
Gene Symbol Cntn5
Ensembl Gene ENSMUSG00000039488
Gene Name contactin 5
Synonyms A830025P08Rik, 6720426O10Rik, NB-2, LOC244683
MMRRC Submission 044294-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R6147 (G1)
Quality Score 225.009
Status Not validated
Chromosome 9
Chromosomal Location 9660896-10904780 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 10012894 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Phenylalanine at position 297 (Y297F)
Ref Sequence ENSEMBL: ENSMUSP00000124327 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000074133] [ENSMUST00000160216] [ENSMUST00000162484] [ENSMUST00000179049]
AlphaFold P68500
Predicted Effect probably damaging
Transcript: ENSMUST00000074133
AA Change: Y297F

PolyPhen 2 Score 0.978 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000073769
Gene: ENSMUSG00000039488
AA Change: Y297F

DomainStartEndE-ValueType
signal peptide 1 23 N/A INTRINSIC
IGc2 113 179 1.11e-10 SMART
IG 201 289 4.82e-6 SMART
IGc2 312 375 1.4e-16 SMART
IGc2 401 464 8.97e-15 SMART
IGc2 493 557 4.96e-8 SMART
IG 577 667 2.13e-7 SMART
FN3 670 756 1.01e-11 SMART
FN3 773 859 9.19e-1 SMART
FN3 875 958 3.99e-10 SMART
FN3 974 1053 1.68e-3 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000160216
AA Change: Y297F

PolyPhen 2 Score 0.978 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000124327
Gene: ENSMUSG00000039488
AA Change: Y297F

DomainStartEndE-ValueType
signal peptide 1 23 N/A INTRINSIC
IGc2 113 179 1.11e-10 SMART
IG 201 289 4.82e-6 SMART
IGc2 312 375 1.4e-16 SMART
IGc2 401 464 8.97e-15 SMART
IGc2 493 557 4.96e-8 SMART
IG 577 667 2.13e-7 SMART
FN3 670 756 1.01e-11 SMART
FN3 773 859 9.19e-1 SMART
FN3 875 958 3.99e-10 SMART
FN3 974 1053 1.68e-3 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000162484
AA Change: Y92F

PolyPhen 2 Score 0.976 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000124214
Gene: ENSMUSG00000039488
AA Change: Y92F

DomainStartEndE-ValueType
IG_like 10 84 1.12e2 SMART
IGc2 107 170 1.4e-16 SMART
IGc2 196 259 8.97e-15 SMART
IGc2 288 352 4.96e-8 SMART
IG 372 462 2.13e-7 SMART
FN3 465 551 1.01e-11 SMART
FN3 568 654 9.19e-1 SMART
FN3 670 753 3.99e-10 SMART
FN3 769 848 1.68e-3 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000179049
AA Change: Y92F

PolyPhen 2 Score 0.976 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000135903
Gene: ENSMUSG00000039488
AA Change: Y92F

DomainStartEndE-ValueType
IG_like 10 84 1.12e2 SMART
IGc2 107 170 1.4e-16 SMART
IGc2 196 259 8.97e-15 SMART
IGc2 288 352 4.96e-8 SMART
IG 372 462 2.13e-7 SMART
FN3 465 551 1.01e-11 SMART
FN3 568 654 9.19e-1 SMART
FN3 670 753 3.99e-10 SMART
FN3 769 848 1.68e-3 SMART
Coding Region Coverage
  • 1x: 99.8%
  • 3x: 99.3%
  • 10x: 97.1%
  • 20x: 92.3%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a member of the immunoglobulin superfamily, and contactin family, which mediate cell surface interactions during nervous system development. This protein is a glycosylphosphatidylinositol (GPI)-anchored neuronal membrane protein that functions as a cell adhesion molecule. It may play a role in the formation of axon connections in the developing nervous system. Alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Aug 2011]
PHENOTYPE: Homozygous null mice are viable, fertile, and less susceptible to audiogenic seizures. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 69 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acmsd C T 1: 127,657,157 (GRCm39) probably benign Het
Acsf3 T A 8: 123,508,213 (GRCm39) D236E probably damaging Het
Aqp1 G T 6: 55,313,595 (GRCm39) E40D probably benign Het
Arfgef2 A G 2: 166,713,415 (GRCm39) D1272G probably damaging Het
Arfip1 A G 3: 84,436,485 (GRCm39) V97A probably benign Het
Atp6v1b2 T A 8: 69,555,134 (GRCm39) Y165* probably null Het
Bclaf1 T A 10: 20,199,171 (GRCm39) D189E possibly damaging Het
Camsap2 G A 1: 136,273,138 (GRCm39) T13M probably damaging Het
Cblif G A 19: 11,724,936 (GRCm39) probably benign Het
Cntnap5b G A 1: 99,978,506 (GRCm39) C174Y probably damaging Het
Cntrl A C 2: 35,055,745 (GRCm39) D1213A possibly damaging Het
Comtd1 C A 14: 21,898,883 (GRCm39) A20S probably damaging Het
Cspg4 A T 9: 56,796,056 (GRCm39) R1264W probably damaging Het
Cybb C G X: 9,316,989 (GRCm39) D246H probably benign Het
Dlgap2 T A 8: 14,777,294 (GRCm39) C180S probably benign Het
Ednra C T 8: 78,393,951 (GRCm39) probably benign Het
Efcab3 T C 11: 104,858,566 (GRCm39) V3875A unknown Het
Ephb6 A T 6: 41,593,715 (GRCm39) S533C probably damaging Het
Fndc1 A T 17: 7,972,594 (GRCm39) probably null Het
Gm12185 A G 11: 48,806,717 (GRCm39) I158T probably benign Het
Gm14325 A T 2: 177,474,600 (GRCm39) C161S probably damaging Het
Ighv9-1 T A 12: 114,057,840 (GRCm39) Q20L probably damaging Het
Khnyn G C 14: 56,125,060 (GRCm39) S438T probably damaging Het
Krt9 T C 11: 100,079,665 (GRCm39) S576G unknown Het
Lrriq4 A T 3: 30,713,228 (GRCm39) N443I probably damaging Het
Luzp1 A G 4: 136,268,374 (GRCm39) Y199C probably damaging Het
Map2k3 T A 11: 60,840,776 (GRCm39) Y268* probably null Het
Men1 T A 19: 6,387,272 (GRCm39) D248E probably damaging Het
Mfsd4b2 A T 10: 39,797,573 (GRCm39) C261S probably benign Het
Mpeg1 T G 19: 12,440,258 (GRCm39) I572S probably damaging Het
Mrgprb2 A G 7: 48,202,113 (GRCm39) V204A possibly damaging Het
Mycbp2 A T 14: 103,392,945 (GRCm39) C805* probably null Het
Nphs2 A T 1: 156,146,296 (GRCm39) K91* probably null Het
Obox3 A G 7: 15,359,926 (GRCm39) S248P probably damaging Het
Or12d17 T C 17: 37,777,430 (GRCm39) I111T probably benign Het
Or5w19 C T 2: 87,699,061 (GRCm39) T242I probably benign Het
Or8k22 A T 2: 86,162,844 (GRCm39) N285K probably damaging Het
Otogl G A 10: 107,612,978 (GRCm39) silent Het
Pan3 T C 5: 147,485,093 (GRCm39) probably benign Het
Pate10 A G 9: 35,653,528 (GRCm39) T111A possibly damaging Het
Pate10 A T 9: 35,653,406 (GRCm39) Y70F possibly damaging Het
Pcdhb5 T A 18: 37,453,779 (GRCm39) L53Q probably damaging Het
Pcdhb9 G T 18: 37,535,494 (GRCm39) R496L possibly damaging Het
Peg10 C T 6: 4,754,499 (GRCm39) probably benign Het
Plce1 A G 19: 38,690,481 (GRCm39) K722E probably damaging Het
Plch1 A G 3: 63,630,302 (GRCm39) S489P probably damaging Het
Plekhg3 T C 12: 76,611,985 (GRCm39) V362A probably damaging Het
Prorp A G 12: 55,426,093 (GRCm39) Y168C probably damaging Het
Radil G A 5: 142,483,695 (GRCm39) H264Y probably benign Het
Ranbp2 C A 10: 58,315,250 (GRCm39) T1990K probably damaging Het
Rnf207 T C 4: 152,400,112 (GRCm39) D192G probably damaging Het
Ryr1 A T 7: 28,785,339 (GRCm39) F1784Y possibly damaging Het
Set T A 2: 29,956,836 (GRCm39) S2T probably benign Het
Slc26a2 T A 18: 61,334,757 (GRCm39) Y232F probably damaging Het
Sntb1 T A 15: 55,511,406 (GRCm39) M393L probably benign Het
Stx16 A G 2: 173,932,480 (GRCm39) T18A probably damaging Het
Stxbp5 A T 10: 9,684,216 (GRCm39) S585T possibly damaging Het
Sult2a7 T C 7: 14,199,088 (GRCm39) E313G probably damaging Het
Tbck A G 3: 132,400,207 (GRCm39) K86R probably benign Het
Tom1 A T 8: 75,781,320 (GRCm39) Q255L possibly damaging Het
Trbv4 A G 6: 41,036,637 (GRCm39) Y54C probably damaging Het
Trim34a A T 7: 103,910,398 (GRCm39) Q400L probably damaging Het
Trim42 G T 9: 97,245,382 (GRCm39) H473N probably benign Het
Tsbp1 T C 17: 34,637,897 (GRCm39) S31P possibly damaging Het
Tshr T A 12: 91,505,009 (GRCm39) M649K possibly damaging Het
Vmn2r11 C T 5: 109,202,700 (GRCm39) V126M probably benign Het
Vps13b T A 15: 35,930,177 (GRCm39) H3971Q probably benign Het
Wdr75 T A 1: 45,858,698 (GRCm39) N622K probably benign Het
Wdr93 A T 7: 79,408,245 (GRCm39) Q242L probably benign Het
Other mutations in Cntn5
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00742:Cntn5 APN 9 9,976,302 (GRCm39) missense probably damaging 0.99
IGL01118:Cntn5 APN 9 9,831,565 (GRCm39) missense possibly damaging 0.94
IGL01328:Cntn5 APN 9 9,781,773 (GRCm39) missense probably damaging 1.00
IGL01445:Cntn5 APN 9 9,693,489 (GRCm39) splice site probably benign
IGL01505:Cntn5 APN 9 9,706,092 (GRCm39) missense probably damaging 1.00
IGL01556:Cntn5 APN 9 9,673,913 (GRCm39) missense probably benign
IGL01804:Cntn5 APN 9 9,831,542 (GRCm39) missense probably damaging 0.99
IGL02173:Cntn5 APN 9 9,748,401 (GRCm39) missense probably damaging 1.00
IGL02250:Cntn5 APN 9 10,145,336 (GRCm39) missense probably damaging 1.00
IGL02366:Cntn5 APN 9 9,984,060 (GRCm39) splice site probably benign
IGL02565:Cntn5 APN 9 10,145,343 (GRCm39) nonsense probably null
IGL02593:Cntn5 APN 9 9,833,504 (GRCm39) missense probably damaging 1.00
IGL02743:Cntn5 APN 9 9,984,115 (GRCm39) missense probably damaging 1.00
IGL02976:Cntn5 APN 9 10,419,104 (GRCm39) unclassified probably benign
IGL03103:Cntn5 APN 9 9,972,817 (GRCm39) splice site probably benign
IGL03114:Cntn5 APN 9 9,748,457 (GRCm39) missense probably damaging 1.00
IGL03156:Cntn5 APN 9 9,673,882 (GRCm39) missense probably damaging 1.00
IGL02802:Cntn5 UTSW 9 10,048,683 (GRCm39) splice site probably null
R0243:Cntn5 UTSW 9 9,781,780 (GRCm39) missense probably damaging 1.00
R0385:Cntn5 UTSW 9 9,972,875 (GRCm39) missense probably damaging 1.00
R0541:Cntn5 UTSW 9 9,673,407 (GRCm39) splice site probably benign
R0827:Cntn5 UTSW 9 9,666,943 (GRCm39) missense possibly damaging 0.88
R1029:Cntn5 UTSW 9 9,831,577 (GRCm39) missense probably damaging 1.00
R1440:Cntn5 UTSW 9 10,145,344 (GRCm39) missense probably damaging 1.00
R1463:Cntn5 UTSW 9 9,673,801 (GRCm39) critical splice donor site probably null
R1536:Cntn5 UTSW 9 9,976,321 (GRCm39) missense possibly damaging 0.78
R1746:Cntn5 UTSW 9 9,831,577 (GRCm39) missense probably damaging 1.00
R1761:Cntn5 UTSW 9 10,172,059 (GRCm39) missense probably benign 0.01
R1764:Cntn5 UTSW 9 9,673,988 (GRCm39) missense probably benign
R1859:Cntn5 UTSW 9 9,972,839 (GRCm39) missense probably damaging 1.00
R1888:Cntn5 UTSW 9 9,984,082 (GRCm39) missense possibly damaging 0.95
R1888:Cntn5 UTSW 9 9,984,082 (GRCm39) missense possibly damaging 0.95
R1950:Cntn5 UTSW 9 9,781,774 (GRCm39) missense probably damaging 1.00
R2143:Cntn5 UTSW 9 9,748,420 (GRCm39) missense probably damaging 0.98
R2145:Cntn5 UTSW 9 9,748,420 (GRCm39) missense probably damaging 0.98
R2437:Cntn5 UTSW 9 10,048,758 (GRCm39) nonsense probably null
R2440:Cntn5 UTSW 9 10,171,960 (GRCm39) missense possibly damaging 0.91
R2504:Cntn5 UTSW 9 10,172,126 (GRCm39) missense probably benign
R3054:Cntn5 UTSW 9 10,419,076 (GRCm39) missense probably benign 0.30
R3056:Cntn5 UTSW 9 10,419,076 (GRCm39) missense probably benign 0.30
R3804:Cntn5 UTSW 9 9,781,668 (GRCm39) splice site probably benign
R4164:Cntn5 UTSW 9 9,781,681 (GRCm39) missense probably damaging 1.00
R4444:Cntn5 UTSW 9 9,704,947 (GRCm39) missense probably damaging 1.00
R4472:Cntn5 UTSW 9 10,048,776 (GRCm39) missense probably damaging 1.00
R4576:Cntn5 UTSW 9 9,673,297 (GRCm39) missense probably benign 0.10
R4624:Cntn5 UTSW 9 9,704,809 (GRCm39) nonsense probably null
R4652:Cntn5 UTSW 9 9,704,917 (GRCm39) missense possibly damaging 0.68
R4664:Cntn5 UTSW 9 10,144,214 (GRCm39) missense possibly damaging 0.71
R4679:Cntn5 UTSW 9 9,970,536 (GRCm39) missense probably benign 0.09
R4829:Cntn5 UTSW 9 9,976,288 (GRCm39) missense probably damaging 1.00
R4929:Cntn5 UTSW 9 9,976,400 (GRCm39) critical splice acceptor site probably null
R5211:Cntn5 UTSW 9 9,704,894 (GRCm39) missense possibly damaging 0.88
R5406:Cntn5 UTSW 9 9,833,465 (GRCm39) missense probably damaging 1.00
R5468:Cntn5 UTSW 9 9,743,633 (GRCm39) missense probably damaging 1.00
R5584:Cntn5 UTSW 9 9,661,457 (GRCm39) missense possibly damaging 0.91
R5688:Cntn5 UTSW 9 9,748,427 (GRCm39) missense probably damaging 1.00
R5762:Cntn5 UTSW 9 9,748,394 (GRCm39) missense possibly damaging 0.95
R6141:Cntn5 UTSW 9 10,144,162 (GRCm39) missense probably benign
R6325:Cntn5 UTSW 9 10,144,328 (GRCm39) splice site probably null
R6377:Cntn5 UTSW 9 9,743,657 (GRCm39) missense probably damaging 1.00
R6774:Cntn5 UTSW 9 10,144,222 (GRCm39) missense probably damaging 1.00
R7117:Cntn5 UTSW 9 10,904,704 (GRCm39) start gained probably benign
R7252:Cntn5 UTSW 9 9,831,640 (GRCm39) missense probably benign 0.00
R7363:Cntn5 UTSW 9 10,172,021 (GRCm39) missense probably benign 0.00
R7401:Cntn5 UTSW 9 9,833,466 (GRCm39) missense probably benign 0.13
R7488:Cntn5 UTSW 9 9,970,570 (GRCm39) missense probably damaging 0.99
R7548:Cntn5 UTSW 9 9,673,415 (GRCm39) splice site probably null
R7662:Cntn5 UTSW 9 9,661,390 (GRCm39) missense probably benign 0.17
R7718:Cntn5 UTSW 9 9,984,133 (GRCm39) missense probably benign
R7719:Cntn5 UTSW 9 9,704,903 (GRCm39) missense probably damaging 1.00
R7788:Cntn5 UTSW 9 9,704,934 (GRCm39) missense probably benign 0.01
R7864:Cntn5 UTSW 9 9,984,182 (GRCm39) missense probably damaging 0.98
R7937:Cntn5 UTSW 9 9,748,450 (GRCm39) missense probably damaging 1.00
R8117:Cntn5 UTSW 9 9,673,955 (GRCm39) missense probably benign 0.33
R8159:Cntn5 UTSW 9 10,145,386 (GRCm39) missense possibly damaging 0.91
R8349:Cntn5 UTSW 9 9,666,840 (GRCm39) critical splice donor site probably null
R8449:Cntn5 UTSW 9 9,666,840 (GRCm39) critical splice donor site probably null
R8779:Cntn5 UTSW 9 10,171,920 (GRCm39) missense probably benign
R8789:Cntn5 UTSW 9 9,673,292 (GRCm39) missense probably damaging 1.00
R8985:Cntn5 UTSW 9 10,171,960 (GRCm39) missense possibly damaging 0.91
R9370:Cntn5 UTSW 9 9,833,520 (GRCm39) missense probably benign 0.19
R9382:Cntn5 UTSW 9 9,673,817 (GRCm39) missense probably benign
R9781:Cntn5 UTSW 9 10,048,686 (GRCm39) critical splice donor site probably null
Z1177:Cntn5 UTSW 9 10,090,241 (GRCm39) missense probably damaging 1.00
Z1177:Cntn5 UTSW 9 9,673,967 (GRCm39) nonsense probably null
Predicted Primers PCR Primer
(F):5'- GCACCTTGAAAGTTCTCAGC -3'
(R):5'- GAGTGACCCTAAGTGTGCTC -3'

Sequencing Primer
(F):5'- TGTAGTCACCACAGGACTTCTAG -3'
(R):5'- GTGACCCTAAGTGTGCTCTTTATTTC -3'
Posted On 2017-10-10