Incidental Mutation 'R8117:Cntn5'
ID 631274
Institutional Source Beutler Lab
Gene Symbol Cntn5
Ensembl Gene ENSMUSG00000039488
Gene Name contactin 5
Synonyms A830025P08Rik, 6720426O10Rik, NB-2, LOC244683
MMRRC Submission 067546-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R8117 (G1)
Quality Score 225.009
Status Validated
Chromosome 9
Chromosomal Location 9660896-10904780 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 9673955 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 716 (S716P)
Ref Sequence ENSEMBL: ENSMUSP00000124214 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000074133] [ENSMUST00000160216] [ENSMUST00000162484] [ENSMUST00000179049]
AlphaFold P68500
Predicted Effect probably benign
Transcript: ENSMUST00000074133
AA Change: S921P

PolyPhen 2 Score 0.328 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000073769
Gene: ENSMUSG00000039488
AA Change: S921P

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 benign
Transcript: ENSMUST00000160216
AA Change: S921P

PolyPhen 2 Score 0.328 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000124327
Gene: ENSMUSG00000039488
AA Change: S921P

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 benign
Transcript: ENSMUST00000162484
AA Change: S716P

PolyPhen 2 Score 0.328 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000124214
Gene: ENSMUSG00000039488
AA Change: S716P

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 benign
Transcript: ENSMUST00000179049
AA Change: S716P

PolyPhen 2 Score 0.328 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000135903
Gene: ENSMUSG00000039488
AA Change: S716P

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: 99.5%
  • 10x: 98.5%
  • 20x: 94.4%
Validation Efficiency 99% (73/74)
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: 71 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2010315B03Rik T C 9: 124,058,078 (GRCm39) T14A Het
2610008E11Rik T C 10: 78,930,289 (GRCm39) N42D probably benign Het
Ajm1 A G 2: 25,469,246 (GRCm39) F222L probably benign Het
Ankrd54 T A 15: 78,939,641 (GRCm39) M183L Het
Apob G A 12: 8,056,435 (GRCm39) G1639D probably damaging Het
B3gat2 A G 1: 23,884,061 (GRCm39) T283A probably benign Het
Bmpr2 T G 1: 59,886,252 (GRCm39) S296R probably damaging Het
Cand1 G A 10: 119,042,721 (GRCm39) T1123I probably damaging Het
Cc2d2a T C 5: 43,869,781 (GRCm39) F943S probably damaging Het
Ccdc40 T C 11: 119,144,211 (GRCm39) I912T probably benign Het
Cdkn2d G A 9: 21,200,447 (GRCm39) S108L probably benign Het
Cep295 G A 9: 15,245,660 (GRCm39) T932I probably damaging Het
Col18a1 T C 10: 76,895,808 (GRCm39) E903G probably benign Het
Ctrc T A 4: 141,565,972 (GRCm39) I229F probably damaging Het
Cyb561d2 C T 9: 107,418,771 (GRCm39) A18T probably benign Het
Dnajb4 T A 3: 151,899,089 (GRCm39) K46* probably null Het
Dsc2 C T 18: 20,165,331 (GRCm39) G881R possibly damaging Het
Dsg1c C T 18: 20,410,016 (GRCm39) H495Y probably benign Het
Eif2b3 A G 4: 116,879,414 (GRCm39) D18G probably damaging Het
Enam A T 5: 88,651,385 (GRCm39) I965L probably benign Het
Fhod3 T A 18: 25,248,910 (GRCm39) I1363K probably damaging Het
Fras1 A G 5: 96,855,245 (GRCm39) Y1918C probably damaging Het
Fsip2 T A 2: 82,823,296 (GRCm39) I6343N possibly damaging Het
Gpr45 G C 1: 43,072,475 (GRCm39) V373L probably damaging Het
Hdac2 G T 10: 36,873,966 (GRCm39) Q365H probably damaging Het
Hspa12b A G 2: 130,980,389 (GRCm39) T103A possibly damaging Het
Ifrd1 A T 12: 40,262,350 (GRCm39) S287T probably benign Het
Igkv6-15 G A 6: 70,383,622 (GRCm39) P60S possibly damaging Het
Ippk C T 13: 49,599,818 (GRCm39) P226S Het
Kctd19 T A 8: 106,122,069 (GRCm39) D109V unknown Het
Matn4 G A 2: 164,234,851 (GRCm39) S540L probably damaging Het
Matn4 T C 2: 164,241,682 (GRCm39) K248E probably benign Het
Muc16 G A 9: 18,420,206 (GRCm39) Q97* probably null Het
Mup18 A G 4: 61,592,238 (GRCm39) C9R unknown Het
Myh1 A G 11: 67,113,031 (GRCm39) K1845R probably damaging Het
Mysm1 G A 4: 94,848,627 (GRCm39) R469* probably null Het
Naip1 T C 13: 100,563,509 (GRCm39) D552G possibly damaging Het
Nrcam A G 12: 44,618,371 (GRCm39) D787G probably benign Het
Nrcam G A 12: 44,645,365 (GRCm39) V1256I probably damaging Het
Obscn G T 11: 58,932,980 (GRCm39) H4799N possibly damaging Het
Or1f12 T C 13: 21,722,122 (GRCm39) K3E probably benign Het
Or4p4 A G 2: 88,482,729 (GRCm39) K78E probably damaging Het
Or52e18 T C 7: 104,609,356 (GRCm39) I194M probably damaging Het
Or7g22 A G 9: 19,048,353 (GRCm39) I21M probably benign Het
Pcdhgb5 T C 18: 37,866,302 (GRCm39) F699S probably damaging Het
Phtf2 T C 5: 21,007,038 (GRCm39) E175G probably benign Het
Pira1 G A 7: 3,740,075 (GRCm39) T340I probably damaging Het
Ppp2r5c A G 12: 110,517,519 (GRCm39) H218R possibly damaging Het
Ptgs2 A G 1: 149,979,785 (GRCm39) R297G probably damaging Het
Rapgef3 A T 15: 97,648,747 (GRCm39) D619E probably benign Het
Ric1 G A 19: 29,552,191 (GRCm39) V321I probably benign Het
Ripor1 T C 8: 106,344,105 (GRCm39) V413A probably damaging Het
Rsf1 G T 7: 97,288,464 (GRCm39) probably null Het
Sccpdh A G 1: 179,504,017 (GRCm39) D122G probably damaging Het
Sec16a A T 2: 26,331,441 (GRCm39) H191Q probably benign Het
Slco1a5 G T 6: 142,208,418 (GRCm39) N124K probably damaging Het
Snrnp200 A G 2: 127,071,051 (GRCm39) T1111A probably benign Het
Stard9 G A 2: 120,534,911 (GRCm39) G3723S probably benign Het
Tanc2 T A 11: 105,725,988 (GRCm39) V384E probably damaging Het
Tbrg1 A G 9: 37,568,296 (GRCm39) F49L possibly damaging Het
Tecta A G 9: 42,288,927 (GRCm39) F546S probably damaging Het
Tmem132c A G 5: 127,437,176 (GRCm39) R222G probably benign Het
Trub2 C T 2: 29,668,739 (GRCm39) probably null Het
Tti1 G T 2: 157,849,418 (GRCm39) P607Q probably damaging Het
Vmn1r62 T A 7: 5,678,726 (GRCm39) F136I possibly damaging Het
Vmn2r111 T A 17: 22,790,469 (GRCm39) H179L probably benign Het
Wdfy4 A T 14: 32,699,063 (GRCm39) C2703* probably null Het
Wdfy4 G A 14: 32,826,072 (GRCm39) P1193L Het
Wipf3 A G 6: 54,460,816 (GRCm39) K88R probably benign Het
Zfp641 C T 15: 98,186,856 (GRCm39) G256R probably damaging Het
Zfp993 T A 4: 146,741,972 (GRCm39) C99S 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
R6147:Cntn5 UTSW 9 10,012,894 (GRCm39) missense probably damaging 0.98
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
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'- AATCCCAGGTCACTTACGGTG -3'
(R):5'- GAAATCAAGGCAGTTTGGGC -3'

Sequencing Primer
(F):5'- AGGTCACTTACGGTGCCTCTTTG -3'
(R):5'- CAGAGGCAATTTCTTTCAGGG -3'
Posted On 2020-06-30