Incidental Mutation 'R8985:Cntn5'
ID 683972
Institutional Source Beutler Lab
Gene Symbol Cntn5
Ensembl Gene ENSMUSG00000039488
Gene Name contactin 5
Synonyms A830025P08Rik, 6720426O10Rik, NB-2, LOC244683
MMRRC Submission 068818-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R8985 (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 10171960 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Histidine at position 75 (Y75H)
Ref Sequence ENSEMBL: ENSMUSP00000124327 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000074133] [ENSMUST00000160216] [ENSMUST00000162484] [ENSMUST00000179049]
AlphaFold P68500
Predicted Effect possibly damaging
Transcript: ENSMUST00000074133
AA Change: Y75H

PolyPhen 2 Score 0.909 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000073769
Gene: ENSMUSG00000039488
AA Change: Y75H

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 possibly damaging
Transcript: ENSMUST00000160216
AA Change: Y75H

PolyPhen 2 Score 0.909 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000124327
Gene: ENSMUSG00000039488
AA Change: Y75H

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
SMART Domains Protein: ENSMUSP00000124214
Gene: ENSMUSG00000039488

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
SMART Domains Protein: ENSMUSP00000135903
Gene: ENSMUSG00000039488

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: 100.0%
  • 3x: 99.9%
  • 10x: 99.5%
  • 20x: 98.4%
Validation Efficiency 100% (74/74)
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: 72 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acad9 T A 3: 36,141,860 (GRCm39) probably benign Het
Agbl1 C A 7: 75,969,904 (GRCm39) S53R Het
Ahr T C 12: 35,576,736 (GRCm39) K65R possibly damaging Het
AI429214 A T 8: 37,460,820 (GRCm39) probably benign Het
Ankrd52 T C 10: 128,222,978 (GRCm39) S643P probably damaging Het
Asz1 T C 6: 18,051,336 (GRCm39) T448A probably benign Het
Atp10a A G 7: 58,438,092 (GRCm39) I425V probably benign Het
Casd1 T A 6: 4,624,399 (GRCm39) Y397* probably null Het
Ccdc162 A G 10: 41,432,102 (GRCm39) I1797T probably damaging Het
Cdc20b A T 13: 113,196,330 (GRCm39) R152* probably null Het
Cdc25b T C 2: 131,035,180 (GRCm39) C313R probably damaging Het
Cfap73 T A 5: 120,768,123 (GRCm39) T212S probably benign Het
Chd9 G T 8: 91,721,101 (GRCm39) R963L unknown Het
Clip4 G T 17: 72,113,527 (GRCm39) V226F probably damaging Het
Cmya5 A G 13: 93,233,664 (GRCm39) S475P possibly damaging Het
Crtc1 T G 8: 70,855,092 (GRCm39) H176P probably damaging Het
Cspg5 T C 9: 110,085,502 (GRCm39) W558R unknown Het
Cyp2c39 A G 19: 39,552,419 (GRCm39) T371A probably benign Het
Dcaf8 G A 1: 172,000,199 (GRCm39) R119H probably benign Het
Drosha G T 15: 12,924,187 (GRCm39) A1190S possibly damaging Het
Dst T C 1: 34,288,886 (GRCm39) V5655A probably benign Het
Etnk1 C G 6: 143,140,953 (GRCm39) probably benign Het
Flnc T A 6: 29,440,499 (GRCm39) V269D probably benign Het
Foxs1 T A 2: 152,775,058 (GRCm39) probably benign Het
Ftsj3 T C 11: 106,141,595 (GRCm39) Y551C possibly damaging Het
Fzd6 A T 15: 38,895,019 (GRCm39) H395L probably damaging Het
Grm6 C T 11: 50,746,537 (GRCm39) A289V possibly damaging Het
Hook1 A G 4: 95,910,468 (GRCm39) D694G probably benign Het
Idh2 TCCCAGG T 7: 79,748,079 (GRCm39) probably benign Het
Igha T C 12: 113,222,611 (GRCm39) E270G Het
Itga2b C A 11: 102,356,288 (GRCm39) probably benign Het
Jade1 A C 3: 41,568,148 (GRCm39) S739R probably benign Het
Lpin3 T C 2: 160,738,674 (GRCm39) S209P probably benign Het
Ly6i A C 15: 74,851,806 (GRCm39) L121R probably damaging Het
Ms4a1 C T 19: 11,232,055 (GRCm39) V107I probably benign Het
Mycbpap T A 11: 94,404,722 (GRCm39) T74S probably benign Het
Nlrp14 A G 7: 106,796,436 (GRCm39) N921D probably benign Het
Nmur1 C T 1: 86,314,103 (GRCm39) E388K probably benign Het
Nol4 T C 18: 23,085,294 (GRCm39) Y40C probably damaging Het
Or1e1c T C 11: 73,266,252 (GRCm39) S229P possibly damaging Het
Or51k1 A T 7: 103,661,367 (GRCm39) C181S probably damaging Het
Or8b51 A T 9: 38,569,621 (GRCm39) Y22* probably null Het
Pawr G A 10: 108,247,861 (GRCm39) V283M possibly damaging Het
Pde6b T C 5: 108,578,503 (GRCm39) Y814H probably benign Het
Pds5b T A 5: 150,724,239 (GRCm39) L1272H probably benign Het
Pkd1l2 T C 8: 117,764,849 (GRCm39) T1350A probably benign Het
Plcz1 T A 6: 139,961,903 (GRCm39) Q216L possibly damaging Het
Prodh A T 16: 17,890,362 (GRCm39) C522S probably null Het
Rasef G T 4: 73,708,960 (GRCm39) P91Q possibly damaging Het
Rgs14 G A 13: 55,531,234 (GRCm39) probably benign Het
Rnase6 A T 14: 51,367,632 (GRCm39) Y8F unknown Het
Rnf216 T A 5: 143,076,180 (GRCm39) T235S probably benign Het
Slco2a1 G A 9: 102,949,834 (GRCm39) probably null Het
Smoc1 A G 12: 81,226,261 (GRCm39) E362G probably damaging Het
Sncaip T C 18: 53,002,169 (GRCm39) L230P probably benign Het
Tdrd3 A G 14: 87,743,597 (GRCm39) E515G possibly damaging Het
Tipin T A 9: 64,195,385 (GRCm39) probably null Het
Tmem9 T A 1: 135,955,145 (GRCm39) V93D possibly damaging Het
Tpm3-rs7 A C 14: 113,552,756 (GRCm39) I217L probably benign Het
Ttc41 A T 10: 86,566,956 (GRCm39) I541F possibly damaging Het
Uck2 T C 1: 167,070,681 (GRCm39) D16G probably benign Het
Vmn1r50 A G 6: 90,085,017 (GRCm39) D254G probably benign Het
Vmn2r50 A C 7: 9,779,974 (GRCm39) F469C probably damaging Het
Vmn2r57 A G 7: 41,049,259 (GRCm39) V830A probably benign Het
Wwc2 T A 8: 48,331,919 (GRCm39) R299S probably benign Het
Xdh C T 17: 74,228,346 (GRCm39) G352R probably damaging Het
Xkr9 A T 1: 13,770,990 (GRCm39) M169L probably benign Het
Zbtb10 A G 3: 9,345,807 (GRCm39) D767G probably damaging Het
Zfp106 T C 2: 120,366,077 (GRCm39) Y65C Het
Zfp536 A G 7: 37,268,228 (GRCm39) L396P probably damaging Het
Znhit1 C A 5: 137,011,408 (GRCm39) C135F probably damaging Het
Zscan5b A G 7: 6,241,834 (GRCm39) E351G probably damaging 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
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
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'- TCAAAACTCTCCCTATAGTACAGTG -3'
(R):5'- GTAGCATGAATTCAGTTGTAGCAG -3'

Sequencing Primer
(F):5'- GAACTTTAACTTTCTGGCTGCAG -3'
(R):5'- TTCAGTTGTAGCAGATTTCCAAC -3'
Posted On 2021-10-11