Incidental Mutation 'R0388:Cntn3'
ID 31410
Institutional Source Beutler Lab
Gene Symbol Cntn3
Ensembl Gene ENSMUSG00000030075
Gene Name contactin 3
Synonyms Pang
MMRRC Submission 038594-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R0388 (G1)
Quality Score 225
Status Validated
Chromosome 6
Chromosomal Location 102140265-102541575 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 102254277 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Valine at position 222 (M222V)
Ref Sequence ENSEMBL: ENSMUSP00000145176 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000032159] [ENSMUST00000203619]
AlphaFold Q07409
Predicted Effect probably damaging
Transcript: ENSMUST00000032159
AA Change: M222V

PolyPhen 2 Score 0.960 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000032159
Gene: ENSMUSG00000030075
AA Change: M222V

DomainStartEndE-ValueType
signal peptide 1 18 N/A INTRINSIC
IGc2 41 107 1.85e-7 SMART
IG 129 217 1.82e-6 SMART
IGc2 240 304 6.8e-15 SMART
IGc2 330 393 1.74e-12 SMART
IGc2 422 486 1.53e-8 SMART
IG 506 595 5.2e-11 SMART
FN3 598 684 3.4e-13 SMART
FN3 701 787 5.36e-2 SMART
FN3 803 888 4.63e-6 SMART
FN3 903 983 1.07e-1 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000203050
Predicted Effect probably damaging
Transcript: ENSMUST00000203619
AA Change: M222V

PolyPhen 2 Score 0.960 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000145176
Gene: ENSMUSG00000030075
AA Change: M222V

DomainStartEndE-ValueType
signal peptide 1 18 N/A INTRINSIC
IGc2 41 107 1.85e-7 SMART
IG 129 217 1.82e-6 SMART
IGc2 240 304 6.8e-15 SMART
IGc2 330 393 1.74e-12 SMART
IGc2 422 486 1.53e-8 SMART
IG 506 595 5.2e-11 SMART
FN3 598 684 3.4e-13 SMART
FN3 701 787 5.36e-2 SMART
FN3 803 888 4.63e-6 SMART
FN3 903 983 1.07e-1 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000204857
Meta Mutation Damage Score 0.0914 question?
Coding Region Coverage
  • 1x: 99.0%
  • 3x: 98.0%
  • 10x: 95.6%
  • 20x: 90.7%
Validation Efficiency 100% (67/67)
Allele List at MGI
Other mutations in this stock
Total: 66 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2010315B03Rik T C 9: 124,057,789 (GRCm39) probably benign Het
Acsbg1 T C 9: 54,516,347 (GRCm39) K678R probably damaging Het
Adgrg6 A G 10: 14,326,402 (GRCm39) I410T probably benign Het
Afap1l2 A C 19: 56,905,674 (GRCm39) probably benign Het
Aox1 T C 1: 58,393,565 (GRCm39) Y1242H probably damaging Het
Apoo-ps T C 13: 107,551,173 (GRCm39) noncoding transcript Het
Camta1 C A 4: 151,159,597 (GRCm39) R1614L probably damaging Het
Cdh3 C A 8: 107,265,761 (GRCm39) T268K probably damaging Het
Chd5 T A 4: 152,456,101 (GRCm39) H923Q probably damaging Het
Chd7 T C 4: 8,854,560 (GRCm39) V1967A probably benign Het
Dcaf17 A G 2: 70,908,915 (GRCm39) K277R probably benign Het
Dmbt1 T C 7: 130,697,779 (GRCm39) probably benign Het
Dmpk T A 7: 18,818,002 (GRCm39) probably benign Het
Dzank1 A T 2: 144,318,026 (GRCm39) L714Q possibly damaging Het
Efcab3 A G 11: 105,000,227 (GRCm39) D272G possibly damaging Het
Erbb2 G C 11: 98,318,177 (GRCm39) R471P possibly damaging Het
Esf1 T A 2: 139,962,791 (GRCm39) Y760F possibly damaging Het
Fanci C A 7: 79,089,378 (GRCm39) T938K probably benign Het
Gnai3 A G 3: 108,023,073 (GRCm39) probably benign Het
Hspg2 T A 4: 137,238,469 (GRCm39) C319S probably damaging Het
Il12a T A 3: 68,602,520 (GRCm39) probably null Het
Inpp4a A G 1: 37,435,241 (GRCm39) D837G probably damaging Het
Kcnj5 T A 9: 32,229,159 (GRCm39) E13V probably damaging Het
Kcnq3 T A 15: 65,871,887 (GRCm39) Y594F probably benign Het
Kif16b T C 2: 142,582,857 (GRCm39) E556G probably damaging Het
Kif28 T C 1: 179,567,654 (GRCm39) I39V possibly damaging Het
Lgi2 T C 5: 52,711,891 (GRCm39) E143G probably damaging Het
Mast1 T G 8: 85,642,166 (GRCm39) I1063L probably benign Het
Med12l T C 3: 59,000,925 (GRCm39) probably benign Het
Mmp19 G T 10: 128,634,752 (GRCm39) R456L probably benign Het
Mon1b T A 8: 114,365,710 (GRCm39) V346E probably damaging Het
Mpv17l A T 16: 13,758,863 (GRCm39) I96L probably benign Het
Mrgpra9 A T 7: 46,902,542 (GRCm39) M1K probably null Het
Mycbp2 A T 14: 103,394,103 (GRCm39) H2819Q probably benign Het
Nav1 A C 1: 135,376,655 (GRCm39) probably benign Het
Neurl4 T C 11: 69,802,559 (GRCm39) probably benign Het
Ntng2 G C 2: 29,097,438 (GRCm39) P341R probably damaging Het
Oas1d A T 5: 121,055,091 (GRCm39) Y221F probably damaging Het
Or1j19 C A 2: 36,676,874 (GRCm39) D112E probably benign Het
Or1l4 A C 2: 37,092,196 (GRCm39) probably null Het
Or5al6 A G 2: 85,976,974 (GRCm39) Y35H probably damaging Het
Osbpl8 A G 10: 111,108,143 (GRCm39) M380V probably benign Het
Pank1 T C 19: 34,799,106 (GRCm39) probably benign Het
Parn T C 16: 13,472,340 (GRCm39) D169G possibly damaging Het
Pknox1 T A 17: 31,822,166 (GRCm39) I311N probably damaging Het
Pprc1 T C 19: 46,051,214 (GRCm39) V248A possibly damaging Het
Prkcq T C 2: 11,259,045 (GRCm39) C322R probably benign Het
Ptpn13 T A 5: 103,702,928 (GRCm39) I1298N probably benign Het
Rab11fip3 A G 17: 26,288,046 (GRCm39) S36P probably benign Het
Rif1 GCCACCA GCCA 2: 52,000,336 (GRCm39) probably benign Het
Sass6 C A 3: 116,400,957 (GRCm39) probably benign Het
Shroom3 G A 5: 93,099,152 (GRCm39) G1463D probably benign Het
Slc35d1 A T 4: 103,042,084 (GRCm39) Y249* probably null Het
Slc9a3 C T 13: 74,269,655 (GRCm39) P8S unknown Het
Slc9a9 T A 9: 94,821,616 (GRCm39) probably null Het
Sting1 A G 18: 35,868,164 (GRCm39) probably null Het
Syne2 T A 12: 76,033,749 (GRCm39) M3666K probably benign Het
Synpo2 A G 3: 122,873,546 (GRCm39) V1140A probably benign Het
Thada A G 17: 84,538,524 (GRCm39) F1495L probably benign Het
Timeless A G 10: 128,077,294 (GRCm39) probably null Het
Tlr6 G T 5: 65,112,548 (GRCm39) H120N possibly damaging Het
Tns3 T C 11: 8,395,703 (GRCm39) I1234V probably benign Het
Ttll9 A G 2: 152,842,099 (GRCm39) S318G probably benign Het
Vps13c T C 9: 67,830,197 (GRCm39) probably benign Het
Zfp933 T C 4: 147,910,899 (GRCm39) I232M probably benign Het
Zfyve27 T C 19: 42,178,024 (GRCm39) S382P probably damaging Het
Other mutations in Cntn3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00538:Cntn3 APN 6 102,397,223 (GRCm39) nonsense probably null
IGL00706:Cntn3 APN 6 102,180,910 (GRCm39) missense probably benign 0.11
IGL01071:Cntn3 APN 6 102,397,212 (GRCm39) critical splice donor site probably null
IGL01769:Cntn3 APN 6 102,185,145 (GRCm39) missense probably damaging 1.00
IGL01995:Cntn3 APN 6 102,180,846 (GRCm39) missense probably damaging 1.00
IGL02058:Cntn3 APN 6 102,176,321 (GRCm39) splice site probably benign
IGL02736:Cntn3 APN 6 102,180,900 (GRCm39) missense probably damaging 1.00
IGL02955:Cntn3 APN 6 102,255,262 (GRCm39) missense probably damaging 1.00
IGL02971:Cntn3 APN 6 102,145,894 (GRCm39) missense probably damaging 1.00
IGL03208:Cntn3 APN 6 102,164,060 (GRCm39) missense probably damaging 0.99
P0037:Cntn3 UTSW 6 102,186,235 (GRCm39) missense probably damaging 1.00
PIT4431001:Cntn3 UTSW 6 102,441,527 (GRCm39) missense probably benign 0.22
R0314:Cntn3 UTSW 6 102,397,342 (GRCm39) missense probably damaging 1.00
R0483:Cntn3 UTSW 6 102,180,927 (GRCm39) missense probably damaging 1.00
R0539:Cntn3 UTSW 6 102,254,178 (GRCm39) critical splice donor site probably null
R0543:Cntn3 UTSW 6 102,246,051 (GRCm39) splice site probably benign
R0629:Cntn3 UTSW 6 102,180,937 (GRCm39) missense probably damaging 1.00
R0691:Cntn3 UTSW 6 102,145,908 (GRCm39) missense possibly damaging 0.48
R0693:Cntn3 UTSW 6 102,145,908 (GRCm39) missense possibly damaging 0.48
R0781:Cntn3 UTSW 6 102,222,119 (GRCm39) missense probably benign 0.22
R1110:Cntn3 UTSW 6 102,222,119 (GRCm39) missense probably benign 0.22
R1144:Cntn3 UTSW 6 102,219,087 (GRCm39) missense possibly damaging 0.65
R1503:Cntn3 UTSW 6 102,441,526 (GRCm39) nonsense probably null
R1640:Cntn3 UTSW 6 102,218,974 (GRCm39) missense possibly damaging 0.82
R1681:Cntn3 UTSW 6 102,147,629 (GRCm39) missense probably damaging 1.00
R1770:Cntn3 UTSW 6 102,246,166 (GRCm39) missense possibly damaging 0.49
R1782:Cntn3 UTSW 6 102,250,772 (GRCm39) missense probably damaging 0.97
R1861:Cntn3 UTSW 6 102,222,032 (GRCm39) missense probably benign 0.11
R1930:Cntn3 UTSW 6 102,219,014 (GRCm39) nonsense probably null
R2026:Cntn3 UTSW 6 102,397,388 (GRCm39) missense probably damaging 1.00
R2152:Cntn3 UTSW 6 102,183,498 (GRCm39) missense probably damaging 1.00
R2313:Cntn3 UTSW 6 102,180,889 (GRCm39) missense probably benign
R2351:Cntn3 UTSW 6 102,314,344 (GRCm39) missense possibly damaging 0.55
R3611:Cntn3 UTSW 6 102,185,038 (GRCm39) missense possibly damaging 0.77
R4349:Cntn3 UTSW 6 102,176,312 (GRCm39) missense probably damaging 1.00
R4421:Cntn3 UTSW 6 102,441,508 (GRCm39) missense probably damaging 0.97
R4513:Cntn3 UTSW 6 102,145,943 (GRCm39) missense probably benign 0.37
R4678:Cntn3 UTSW 6 102,180,981 (GRCm39) missense probably damaging 1.00
R4702:Cntn3 UTSW 6 102,142,292 (GRCm39) missense probably benign 0.37
R4720:Cntn3 UTSW 6 102,218,983 (GRCm39) missense possibly damaging 0.65
R4879:Cntn3 UTSW 6 102,244,389 (GRCm39) missense possibly damaging 0.47
R4951:Cntn3 UTSW 6 102,145,986 (GRCm39) missense possibly damaging 0.90
R5410:Cntn3 UTSW 6 102,255,314 (GRCm39) missense probably benign 0.01
R5502:Cntn3 UTSW 6 102,242,295 (GRCm39) missense possibly damaging 0.58
R5852:Cntn3 UTSW 6 102,397,377 (GRCm39) missense probably damaging 1.00
R5903:Cntn3 UTSW 6 102,219,094 (GRCm39) missense probably benign 0.00
R6193:Cntn3 UTSW 6 102,185,092 (GRCm39) missense probably benign 0.31
R6258:Cntn3 UTSW 6 102,254,178 (GRCm39) critical splice donor site probably null
R6260:Cntn3 UTSW 6 102,254,178 (GRCm39) critical splice donor site probably null
R6350:Cntn3 UTSW 6 102,147,579 (GRCm39) missense probably damaging 1.00
R6490:Cntn3 UTSW 6 102,255,301 (GRCm39) missense probably damaging 0.99
R6993:Cntn3 UTSW 6 102,255,365 (GRCm39) missense probably damaging 0.98
R7064:Cntn3 UTSW 6 102,250,772 (GRCm39) missense probably damaging 0.97
R7085:Cntn3 UTSW 6 102,142,362 (GRCm39) missense possibly damaging 0.85
R7174:Cntn3 UTSW 6 102,142,305 (GRCm39) missense probably benign
R7208:Cntn3 UTSW 6 102,255,383 (GRCm39) nonsense probably null
R7395:Cntn3 UTSW 6 102,314,355 (GRCm39) critical splice acceptor site probably null
R7447:Cntn3 UTSW 6 102,255,416 (GRCm39) nonsense probably null
R7571:Cntn3 UTSW 6 102,255,364 (GRCm39) missense probably damaging 1.00
R7586:Cntn3 UTSW 6 102,397,388 (GRCm39) missense probably damaging 1.00
R7614:Cntn3 UTSW 6 102,142,337 (GRCm39) missense probably benign 0.17
R7697:Cntn3 UTSW 6 102,185,128 (GRCm39) missense probably damaging 1.00
R7697:Cntn3 UTSW 6 102,185,127 (GRCm39) missense probably damaging 1.00
R7849:Cntn3 UTSW 6 102,242,392 (GRCm39) missense probably benign 0.00
R8011:Cntn3 UTSW 6 102,414,860 (GRCm39) missense possibly damaging 0.93
R8013:Cntn3 UTSW 6 102,176,278 (GRCm39) missense probably benign 0.00
R8377:Cntn3 UTSW 6 102,186,254 (GRCm39) missense probably benign 0.00
R8726:Cntn3 UTSW 6 102,146,014 (GRCm39) nonsense probably null
R8770:Cntn3 UTSW 6 102,254,277 (GRCm39) missense possibly damaging 0.67
R8827:Cntn3 UTSW 6 102,246,094 (GRCm39) missense probably benign 0.01
R8947:Cntn3 UTSW 6 102,414,864 (GRCm39) missense probably damaging 1.00
R8997:Cntn3 UTSW 6 102,181,023 (GRCm39) missense probably damaging 0.98
R9055:Cntn3 UTSW 6 102,244,398 (GRCm39) missense probably benign 0.38
R9061:Cntn3 UTSW 6 102,314,288 (GRCm39) missense probably damaging 1.00
R9758:Cntn3 UTSW 6 102,183,511 (GRCm39) missense probably damaging 1.00
R9762:Cntn3 UTSW 6 102,254,196 (GRCm39) missense probably damaging 1.00
Z1088:Cntn3 UTSW 6 102,397,255 (GRCm39) missense possibly damaging 0.74
Z1176:Cntn3 UTSW 6 102,414,892 (GRCm39) critical splice acceptor site probably null
Z1177:Cntn3 UTSW 6 102,314,292 (GRCm39) missense probably benign 0.17
Predicted Primers PCR Primer
(F):5'- CATATGACGTGCAAGTGCAAAAGACTG -3'
(R):5'- TGTGACTGGGCTACCATTTAGCAAAAC -3'

Sequencing Primer
(F):5'- TCAAGTCAGGATTAAGGGTTGC -3'
(R):5'- GCATATTGCAGCACTTTTGAC -3'
Posted On 2013-04-24