Incidental Mutation 'R4829:Cntn5'
ID 372675
Institutional Source Beutler Lab
Gene Symbol Cntn5
Ensembl Gene ENSMUSG00000039488
Gene Name contactin 5
Synonyms A830025P08Rik, 6720426O10Rik, NB-2, LOC244683
MMRRC Submission 042445-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R4829 (G1)
Quality Score 225
Status Validated
Chromosome 9
Chromosomal Location 9660896-10904780 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to G at 9976288 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Lysine to Glutamine at position 219 (K219Q)
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: K424Q

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000073769
Gene: ENSMUSG00000039488
AA Change: K424Q

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: K424Q

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000124327
Gene: ENSMUSG00000039488
AA Change: K424Q

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: K219Q

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000124214
Gene: ENSMUSG00000039488
AA Change: K219Q

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: K219Q

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000135903
Gene: ENSMUSG00000039488
AA Change: K219Q

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 0.6187 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.4%
  • 10x: 96.4%
  • 20x: 92.8%
Validation Efficiency 98% (109/111)
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: 95 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1110002E22Rik T C 3: 137,774,780 (GRCm39) V1323A probably damaging Het
Abcb1a T C 5: 8,773,214 (GRCm39) L814P probably damaging Het
Acat1 C A 9: 53,502,756 (GRCm39) G191V probably damaging Het
Acsbg3 A G 17: 57,190,500 (GRCm39) probably null Het
Adamts20 A T 15: 94,224,277 (GRCm39) D1184E probably benign Het
Adss1 T C 12: 112,601,147 (GRCm39) L283P probably damaging Het
Arid4a A G 12: 71,070,272 (GRCm39) probably null Het
Arid4b T A 13: 14,359,023 (GRCm39) D599E probably benign Het
AW146154 T C 7: 41,130,057 (GRCm39) K353R possibly damaging Het
Axdnd1 G T 1: 156,204,216 (GRCm39) R547S possibly damaging Het
Bcat1 A T 6: 144,961,201 (GRCm39) F134Y probably damaging Het
Camk2d C A 3: 126,573,646 (GRCm39) probably benign Het
Catsperg2 T G 7: 29,400,550 (GRCm39) K268T probably damaging Het
Ccar1 A C 10: 62,581,114 (GRCm39) F1103L unknown Het
Ccdc141 T A 2: 76,905,260 (GRCm39) E395D probably damaging Het
Cdc37l1 A G 19: 28,967,983 (GRCm39) T16A probably benign Het
Cdca2 T A 14: 67,931,202 (GRCm39) probably null Het
Cfap96 T C 8: 46,420,952 (GRCm39) I159V probably damaging Het
Col23a1 C A 11: 51,448,413 (GRCm39) A202E unknown Het
Csmd1 G A 8: 16,177,310 (GRCm39) L1318F probably damaging Het
Csnk1g3 C T 18: 54,028,895 (GRCm39) A16V possibly damaging Het
Cspg4b A G 13: 113,504,696 (GRCm39) I1942V probably benign Het
Dab2 A G 15: 6,454,162 (GRCm39) D224G probably damaging Het
Ddr1 A T 17: 35,996,005 (GRCm39) C625S probably damaging Het
Dennd4a T C 9: 64,796,338 (GRCm39) V788A probably damaging Het
Dgcr2 T C 16: 17,660,617 (GRCm39) E402G possibly damaging Het
Dhcr7 T G 7: 143,391,654 (GRCm39) I81S probably damaging Het
Exd1 C T 2: 119,350,807 (GRCm39) A485T probably benign Het
Fat1 C T 8: 45,489,199 (GRCm39) T3467I probably damaging Het
Fblim1 T C 4: 141,312,020 (GRCm39) E235G probably damaging Het
Fbxo38 T A 18: 62,651,662 (GRCm39) M548L probably benign Het
Fstl5 T C 3: 76,229,489 (GRCm39) Y97H probably damaging Het
Glb1l A T 1: 75,176,994 (GRCm39) S481T probably damaging Het
Gp2 A T 7: 119,056,407 (GRCm39) V22E possibly damaging Het
Grin1 A G 2: 25,208,736 (GRCm39) S55P possibly damaging Het
Herc2 A G 7: 55,756,240 (GRCm39) D760G probably benign Het
Hpn A G 7: 30,798,300 (GRCm39) probably benign Het
Hsf2 T C 10: 57,372,266 (GRCm39) V73A probably damaging Het
Ighv1-42 T C 12: 114,900,788 (GRCm39) Y80C probably benign Het
Ighv1-64 T C 12: 115,471,346 (GRCm39) K57R probably benign Het
Klc1 T C 12: 111,762,037 (GRCm39) I569T probably damaging Het
Klra3 T G 6: 130,300,579 (GRCm39) K263N probably benign Het
Lrcol1 C A 5: 110,502,393 (GRCm39) H90N probably benign Het
Mamdc4 T C 2: 25,455,368 (GRCm39) E921G possibly damaging Het
Mark1 G A 1: 184,637,724 (GRCm39) R622W possibly damaging Het
Mdga1 A G 17: 30,065,343 (GRCm39) S696P possibly damaging Het
Mmp1b C T 9: 7,370,729 (GRCm39) probably null Het
Mplkipl1 C T 19: 61,164,364 (GRCm39) G24R unknown Het
Mtnr1a T C 8: 45,538,652 (GRCm39) probably benign Het
Myo5a T C 9: 75,043,689 (GRCm39) I226T probably damaging Het
Ncoa6 G T 2: 155,257,147 (GRCm39) P799T probably damaging Het
Npc1l1 C T 11: 6,164,010 (GRCm39) probably null Het
Nxph3 T C 11: 95,402,321 (GRCm39) E31G probably benign Het
Obscn T C 11: 58,945,072 (GRCm39) I4649V probably null Het
Or10d4b A T 9: 39,534,734 (GRCm39) H103L probably damaging Het
Or8b12b G T 9: 37,684,243 (GRCm39) C96F probably damaging Het
Or8g35 A T 9: 39,381,663 (GRCm39) Y120N probably damaging Het
Or8h10 G A 2: 86,808,918 (GRCm39) S74L probably damaging Het
P3h3 G A 6: 124,818,601 (GRCm39) probably benign Het
Pcnx2 A T 8: 126,587,797 (GRCm39) probably null Het
Pirb C T 7: 3,720,602 (GRCm39) G299S probably benign Het
Pla2g4d A G 2: 120,097,224 (GRCm39) S792P probably damaging Het
Plppr4 A T 3: 117,129,240 (GRCm39) L76M possibly damaging Het
Ppp2r3d A T 9: 101,089,709 (GRCm39) S205T possibly damaging Het
Prkdc G A 16: 15,519,939 (GRCm39) D1126N possibly damaging Het
Prrt4 G A 6: 29,177,181 (GRCm39) S196L probably benign Het
Ptpn21 A C 12: 98,655,555 (GRCm39) S471A probably damaging Het
Ptprk C A 10: 28,456,480 (GRCm39) S9* probably null Het
Rassf4 A T 6: 116,622,103 (GRCm39) I163K possibly damaging Het
Rgs22 C A 15: 36,104,034 (GRCm39) R142S probably damaging Het
Rit2 C A 18: 31,345,726 (GRCm39) L73F probably damaging Het
Rrbp1 A C 2: 143,831,607 (GRCm39) S187A probably benign Het
Rspo2 A T 15: 42,956,583 (GRCm39) Y83* probably null Het
Scn5a C T 9: 119,363,773 (GRCm39) V456M probably benign Het
Scn9a T A 2: 66,382,057 (GRCm39) H290L probably benign Het
Smarca4 T C 9: 21,550,623 (GRCm39) I452T probably damaging Het
Smc2 T A 4: 52,449,612 (GRCm39) I198K probably damaging Het
Smim14 G A 5: 65,617,946 (GRCm39) probably benign Het
Spg11 A C 2: 121,938,936 (GRCm39) N339K probably benign Het
Spta1 A G 1: 174,065,493 (GRCm39) E2014G probably benign Het
Stk4 T C 2: 163,941,747 (GRCm39) probably null Het
Sypl1 C T 12: 33,017,645 (GRCm39) T121M probably damaging Het
Tas2r120 T A 6: 132,634,331 (GRCm39) F138I probably benign Het
Tcstv4 G A 13: 120,769,926 (GRCm39) C82Y possibly damaging Het
Tet2 A C 3: 133,182,381 (GRCm39) C1194W possibly damaging Het
Tex29 T C 8: 11,905,668 (GRCm39) probably benign Het
Tnfrsf22 T A 7: 143,197,067 (GRCm39) T91S possibly damaging Het
Tnik A T 3: 28,593,690 (GRCm39) probably benign Het
Tnr A T 1: 159,685,974 (GRCm39) I402F probably benign Het
Unc93b1 A T 19: 3,994,293 (GRCm39) S475C probably damaging Het
Utrn T A 10: 12,539,205 (GRCm39) E1937D probably benign Het
Vmn1r227 A T 17: 20,955,927 (GRCm39) noncoding transcript Het
Vmn2r101 G A 17: 19,832,229 (GRCm39) V742I probably benign Het
Vmn2r81 T C 10: 79,083,635 (GRCm39) L3P possibly damaging Het
Zfp882 T G 8: 72,668,233 (GRCm39) H353Q 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
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
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'- TGGTATTTTATCTCAGAAATAGTAGCC -3'
(R):5'- CCGCTGAAGGTTAAATGTGATAAATGG -3'

Sequencing Primer
(F):5'- AGCCTCTTTGTTCCCAGAAGAATG -3'
(R):5'- TAAATGGGGAAGTATTGAGCTTGC -3'
Posted On 2016-03-01