Incidental Mutation 'R7395:Cntn3'
ID 573730
Institutional Source Beutler Lab
Gene Symbol Cntn3
Ensembl Gene ENSMUSG00000030075
Gene Name contactin 3
Synonyms Pang
MMRRC Submission 045477-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R7395 (G1)
Quality Score 191.009
Status Validated
Chromosome 6
Chromosomal Location 102140265-102541575 bp(-) (GRCm39)
Type of Mutation critical splice acceptor site
DNA Base Change (assembly) C to T at 102314355 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000145176 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000032159] [ENSMUST00000203619]
AlphaFold Q07409
Predicted Effect probably null
Transcript: ENSMUST00000032159
SMART Domains Protein: ENSMUSP00000032159
Gene: ENSMUSG00000030075

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 probably null
Transcript: ENSMUST00000203619
SMART Domains Protein: ENSMUSP00000145176
Gene: ENSMUSG00000030075

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
Meta Mutation Damage Score 0.9474 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.8%
Validation Efficiency 99% (92/93)
Allele List at MGI
Other mutations in this stock
Total: 94 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
3830403N18Rik G T X: 55,184,140 (GRCm39) probably null Het
4930433I11Rik A T 7: 40,639,102 (GRCm39) T13S probably damaging Het
Abca13 A G 11: 9,241,658 (GRCm39) I1174V probably benign Het
Acoxl G A 2: 127,726,336 (GRCm39) V237M probably damaging Het
Adam33 A C 2: 130,903,089 (GRCm39) W52G probably benign Het
Adgrv1 T C 13: 81,707,467 (GRCm39) H1313R probably damaging Het
Ap3d1 T C 10: 80,566,716 (GRCm39) T89A probably benign Het
Armc8 T C 9: 99,415,185 (GRCm39) E165G probably damaging Het
Atp6v1c1 T C 15: 38,691,949 (GRCm39) *383Q probably null Het
Atp8b4 A T 2: 126,217,614 (GRCm39) L634Q possibly damaging Het
B3glct A G 5: 149,649,069 (GRCm39) probably null Het
Bhlhe40 TG TGG 6: 108,641,818 (GRCm39) 254 probably null Het
Bicd2 A G 13: 49,531,706 (GRCm39) D316G possibly damaging Het
Bop1 A T 15: 76,338,041 (GRCm39) S610T probably damaging Het
Car11 T A 7: 45,350,745 (GRCm39) Y80* probably null Het
Ccdc121rt2 A T 5: 112,598,035 (GRCm39) E194V possibly damaging Het
Ccdc96 T C 5: 36,642,609 (GRCm39) I205T probably benign Het
Ces2a A G 8: 105,466,273 (GRCm39) E390G probably benign Het
Cfap54 C A 10: 92,720,565 (GRCm39) V2630L unknown Het
Chek2 G T 5: 111,019,974 (GRCm39) probably null Het
Cpne3 A T 4: 19,528,239 (GRCm39) D339E probably damaging Het
Crocc2 C T 1: 93,143,829 (GRCm39) Q1403* probably null Het
Crppa A T 12: 36,551,994 (GRCm39) I283F possibly damaging Het
Csnka2ip G A 16: 64,299,803 (GRCm39) T187I Het
Ctu1 A G 7: 43,326,019 (GRCm39) H226R possibly damaging Het
Cubn G T 2: 13,291,875 (GRCm39) Q3317K probably damaging Het
Cyp17a1 A G 19: 46,659,134 (GRCm39) L169P probably benign Het
Dcc T A 18: 71,507,640 (GRCm39) K911* probably null Het
Dcun1d2 G A 8: 13,328,675 (GRCm39) R75* probably null Het
Defb19 A T 2: 152,421,943 (GRCm39) probably null Het
Dffb A T 4: 154,053,570 (GRCm39) S257R probably damaging Het
Dip2c A C 13: 9,664,413 (GRCm39) N942T probably damaging Het
Dnah3 T A 7: 119,565,474 (GRCm39) I169F Het
Dnah3 T C 7: 119,660,183 (GRCm39) M830V probably benign Het
Dnajc5g G A 5: 31,269,009 (GRCm39) S130N possibly damaging Het
Dscaml1 C A 9: 45,613,703 (GRCm39) Q939K possibly damaging Het
Evpl G C 11: 116,117,905 (GRCm39) N761K possibly damaging Het
Fbxw8 A T 5: 118,206,280 (GRCm39) I556N probably damaging Het
Fry G T 5: 150,304,348 (GRCm39) M579I possibly damaging Het
Ggt7 A T 2: 155,337,800 (GRCm39) M488K probably benign Het
Gnpnat1 T A 14: 45,619,038 (GRCm39) H107L probably benign Het
Golga2 C A 2: 32,195,599 (GRCm39) P798Q possibly damaging Het
Gpr35 G A 1: 92,910,929 (GRCm39) A214T probably damaging Het
Greb1 A T 12: 16,759,431 (GRCm39) probably null Het
Hdac10 G A 15: 89,012,487 (GRCm39) T32I probably benign Het
Hkdc1 G A 10: 62,221,478 (GRCm39) T860I probably damaging Het
Icam5 C A 9: 20,946,738 (GRCm39) P422Q possibly damaging Het
Ist1 A C 8: 110,404,159 (GRCm39) S238A probably benign Het
Lrig2 T C 3: 104,404,836 (GRCm39) N91D probably benign Het
Mapt A C 11: 104,218,949 (GRCm39) D352A probably damaging Het
Micall2 G A 5: 139,702,124 (GRCm39) P373L possibly damaging Het
Mocs1 A G 17: 49,761,585 (GRCm39) S560G possibly damaging Het
Mpo A G 11: 87,691,950 (GRCm39) D461G probably damaging Het
Myo1a G T 10: 127,546,309 (GRCm39) V271L probably damaging Het
Ncoa1 G A 12: 4,345,188 (GRCm39) P720S not run Het
Ncr1 T A 7: 4,341,150 (GRCm39) I47N probably damaging Het
Ndufb6 G A 4: 40,277,730 (GRCm39) R66C probably damaging Het
Obox5 A T 7: 15,492,668 (GRCm39) S208C probably damaging Het
Or10q1 T C 19: 13,726,502 (GRCm39) S11P probably damaging Het
Or2n1d A T 17: 38,646,755 (GRCm39) K236* probably null Het
Or5p75-ps1 T A 7: 108,107,611 (GRCm39) F116Y unknown Het
Or7d9 T A 9: 20,197,826 (GRCm39) M285K probably damaging Het
Padi4 A C 4: 140,488,983 (GRCm39) V152G probably damaging Het
Pdzd7 A T 19: 45,025,450 (GRCm39) D348E probably damaging Het
Pdzph1 T A 17: 59,186,154 (GRCm39) K1212N possibly damaging Het
Piezo2 C T 18: 63,160,634 (GRCm39) G2341R probably damaging Het
Plb1 A G 5: 32,511,028 (GRCm39) K1298E probably benign Het
Prr14l A G 5: 32,985,982 (GRCm39) L1171P probably benign Het
Rab11fip5 T C 6: 85,318,850 (GRCm39) T680A probably benign Het
Rev1 A T 1: 38,127,146 (GRCm39) N371K possibly damaging Het
Rsf1 CGGCGGCGG CGGCGGCGGGGGCGGCGG 7: 97,229,133 (GRCm39) probably benign Het
Ryr2 A G 13: 11,799,997 (GRCm39) C917R probably damaging Het
Sall1 A T 8: 89,757,549 (GRCm39) S852T possibly damaging Het
Serpine2 A G 1: 79,779,272 (GRCm39) F296L probably damaging Het
Slc12a6 A T 2: 112,182,887 (GRCm39) N754I probably damaging Het
Slc39a6 A T 18: 24,718,332 (GRCm39) L575Q probably damaging Het
Smarcc2 T A 10: 128,321,475 (GRCm39) L890Q probably damaging Het
Smg5 T A 3: 88,268,378 (GRCm39) V1006D probably damaging Het
Ssh2 T C 11: 77,283,899 (GRCm39) V51A probably damaging Het
St14 T C 9: 31,008,195 (GRCm39) K547E probably benign Het
Stag1 T G 9: 100,678,781 (GRCm39) V234G probably damaging Het
Stag3 A T 5: 138,280,207 (GRCm39) Q24L probably benign Het
Stra6 T C 9: 58,048,380 (GRCm39) Y158H probably damaging Het
Tcstv1a A T 13: 120,355,666 (GRCm39) probably null Het
Tmem196 G A 12: 119,975,002 (GRCm39) C62Y probably damaging Het
Tmem265 T A 7: 127,164,039 (GRCm39) F84L Het
Tph1 C T 7: 46,306,627 (GRCm39) probably null Het
Ttn A G 2: 76,776,834 (GRCm39) I1522T unknown Het
Ulk4 T A 9: 121,084,178 (GRCm39) Q129L probably benign Het
Usp17la T A 7: 104,510,792 (GRCm39) S466T probably benign Het
Vmn2r31 A T 7: 7,387,744 (GRCm39) V609E probably damaging Het
Vmn2r52 C T 7: 9,904,744 (GRCm39) C365Y probably benign Het
Zbtb4 A T 11: 69,666,937 (GRCm39) T81S possibly damaging Het
Zfp605 A T 5: 110,259,885 (GRCm39) probably benign 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
R0388:Cntn3 UTSW 6 102,254,277 (GRCm39) missense probably damaging 0.96
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
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'- ACCTCAGAAATAGCCGTGGG -3'
(R):5'- ACAGCAACATGGGACTCGTG -3'

Sequencing Primer
(F):5'- CCTCAGAAATAGCCGTGGGTTATG -3'
(R):5'- TCGTATTTATACAGCTGATTTCCTTG -3'
Posted On 2019-09-13