Incidental Mutation 'R6377:Cntn5'
ID 515058
Institutional Source Beutler Lab
Gene Symbol Cntn5
Ensembl Gene ENSMUSG00000039488
Gene Name contactin 5
Synonyms A830025P08Rik, 6720426O10Rik, NB-2, LOC244683
MMRRC Submission 044527-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R6377 (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 T at 9743657 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Tyrosine at position 540 (F540Y)
Ref Sequence ENSEMBL: ENSMUSP00000135903 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000074133] [ENSMUST00000160216] [ENSMUST00000162484] [ENSMUST00000179049]
AlphaFold P68500
Predicted Effect probably damaging
Transcript: ENSMUST00000074133
AA Change: F745Y

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000073769
Gene: ENSMUSG00000039488
AA Change: F745Y

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: F745Y

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000124327
Gene: ENSMUSG00000039488
AA Change: F745Y

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: F540Y

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000124214
Gene: ENSMUSG00000039488
AA Change: F540Y

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: F540Y

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000135903
Gene: ENSMUSG00000039488
AA Change: F540Y

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
Meta Mutation Damage Score 0.5296 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.4%
  • 20x: 97.8%
Validation Efficiency 94% (59/63)
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: 63 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ankib1 A G 5: 3,743,855 (GRCm39) S812P possibly damaging Het
Atp2c2 A G 8: 120,453,093 (GRCm39) E159G probably benign Het
Atrn A G 2: 130,821,889 (GRCm39) I861V probably damaging Het
Clip1 A G 5: 123,741,717 (GRCm39) V1053A possibly damaging Het
Cngb1 C A 8: 95,975,608 (GRCm39) G629C probably damaging Het
Cpb1 A C 3: 20,329,748 (GRCm39) probably null Het
Cyp4a14 A G 4: 115,353,280 (GRCm39) Y11H probably benign Het
Dact2 A G 17: 14,419,450 (GRCm39) S103P probably damaging Het
Dcstamp A T 15: 39,618,317 (GRCm39) Y242F probably benign Het
Drd3 G T 16: 43,641,670 (GRCm39) G329* probably null Het
Duxf1 T C 10: 58,059,494 (GRCm39) probably benign Het
Dysf T A 6: 83,985,945 (GRCm39) S17T probably benign Het
Eno1 A T 4: 150,333,009 (GRCm39) K366N possibly damaging Het
Ffar2 C T 7: 30,518,971 (GRCm39) V190I probably benign Het
Fkbp15 T C 4: 62,242,429 (GRCm39) T508A probably damaging Het
Fndc1 A G 17: 7,988,567 (GRCm39) V1165A unknown Het
Foxj3 A T 4: 119,430,945 (GRCm39) probably null Het
Gabarap T C 11: 69,882,630 (GRCm39) probably null Het
Gm19410 T A 8: 36,270,736 (GRCm39) L1221* probably null Het
Gpat2 G C 2: 127,273,838 (GRCm39) G294R possibly damaging Het
Igf1r A T 7: 67,850,998 (GRCm39) Y931F probably benign Het
Il23r A T 6: 67,400,636 (GRCm39) S565T probably damaging Het
Ipo8 A T 6: 148,717,995 (GRCm39) Y209* probably null Het
Jph2 C T 2: 163,181,632 (GRCm39) G511R probably benign Het
Khdrbs1 C A 4: 129,635,890 (GRCm39) D22Y probably damaging Het
Kif5b A T 18: 6,212,562 (GRCm39) L754Q probably damaging Het
Ksr1 C T 11: 78,927,320 (GRCm39) probably null Het
L3mbtl4 G T 17: 69,084,918 (GRCm39) V610F probably benign Het
Lars2 A G 9: 123,283,825 (GRCm39) T698A probably benign Het
Lonp1 A G 17: 56,928,961 (GRCm39) V267A possibly damaging Het
Loxhd1 T A 18: 77,468,128 (GRCm39) D925E probably damaging Het
Lsg1 A G 16: 30,393,386 (GRCm39) L187P possibly damaging Het
Mki67 A T 7: 135,298,050 (GRCm39) V2328E possibly damaging Het
Mlh3 A G 12: 85,315,271 (GRCm39) I305T probably damaging Het
Mtbp A G 15: 55,421,016 (GRCm39) M1V probably null Het
Myadml2 C A 11: 120,538,538 (GRCm39) C99F probably benign Het
Ncbp1 A G 4: 46,150,703 (GRCm39) Y185C probably damaging Het
Ndufaf7 A T 17: 79,250,739 (GRCm39) Q222L probably null Het
Nlrp4b A T 7: 10,449,339 (GRCm39) Y147F probably benign Het
Or4c11c C T 2: 88,661,613 (GRCm39) R51* probably null Het
Pet100 T C 8: 3,672,370 (GRCm39) V15A probably benign Het
Pot1a A G 6: 25,778,869 (GRCm39) V75A probably benign Het
Ptprs A T 17: 56,725,935 (GRCm39) M1043K probably damaging Het
Rnf31 A G 14: 55,832,984 (GRCm39) T413A probably damaging Het
Rsf1 ATGGCG ATGGCGACGGTGGCG 7: 97,229,111 (GRCm39) probably benign Homo
Rsf1 CG CGACGGCGGTG 7: 97,229,115 (GRCm39) probably benign Het
Rubcnl A T 14: 75,287,635 (GRCm39) probably null Het
Ryr3 A T 2: 112,462,530 (GRCm39) C4839S probably damaging Het
Scai A C 2: 38,992,340 (GRCm39) D379E probably benign Het
Scd2 G T 19: 44,288,198 (GRCm39) G197* probably null Het
Sdr39u1 A C 14: 56,135,166 (GRCm39) I259S probably benign Het
Slco1a5 A T 6: 142,187,906 (GRCm39) probably null Het
Sp1 A T 15: 102,339,318 (GRCm39) T733S probably benign Het
Tecta A G 9: 42,255,051 (GRCm39) S1711P probably damaging Het
Tedc1 G T 12: 113,124,975 (GRCm39) W240L probably damaging Het
Trarg1 T C 11: 76,571,355 (GRCm39) S124P probably damaging Het
Trim50 A G 5: 135,382,454 (GRCm39) K102R probably benign Het
Utrn A G 10: 12,619,827 (GRCm39) Y278H probably damaging Het
Vinac1 T A 2: 128,878,731 (GRCm39) D1065V unknown Het
Vmn2r109 A C 17: 20,784,796 (GRCm39) probably null Het
Zbed5 T C 5: 129,932,210 (GRCm39) S720P possibly damaging Het
Zc3h3 A G 15: 75,711,304 (GRCm39) S386P probably damaging Het
Zscan4-ps1 C T 7: 10,802,418 (GRCm39) probably null 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
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'- TTAAACACAGTTCAAGGGTGGG -3'
(R):5'- GTGATAGCTGAGGCACATAATCATG -3'

Sequencing Primer
(F):5'- AGCTTGTTTATAGAAGAAGTGACAC -3'
(R):5'- GCTGAGGCACATAATCATGTATTAC -3'
Posted On 2018-05-04