Incidental Mutation 'R9055:Cntn3'
ID 688623
Institutional Source Beutler Lab
Gene Symbol Cntn3
Ensembl Gene ENSMUSG00000030075
Gene Name contactin 3
Synonyms Pang
MMRRC Submission 068881-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R9055 (G1)
Quality Score 225.009
Status Validated
Chromosome 6
Chromosomal Location 102140265-102541575 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 102244398 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Leucine at position 384 (F384L)
Ref Sequence ENSEMBL: ENSMUSP00000145176 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000032159] [ENSMUST00000203619]
AlphaFold Q07409
Predicted Effect probably benign
Transcript: ENSMUST00000032159
AA Change: F384L

PolyPhen 2 Score 0.378 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000032159
Gene: ENSMUSG00000030075
AA Change: F384L

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 benign
Transcript: ENSMUST00000203619
AA Change: F384L

PolyPhen 2 Score 0.378 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000145176
Gene: ENSMUSG00000030075
AA Change: F384L

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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.4%
  • 20x: 97.9%
Validation Efficiency 97% (68/70)
Allele List at MGI
Other mutations in this stock
Total: 70 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ablim1 T A 19: 57,030,398 (GRCm39) T753S probably benign Het
Acy3 A G 19: 4,038,178 (GRCm39) E157G probably benign Het
Adamts20 A G 15: 94,181,867 (GRCm39) Y1609H probably damaging Het
Ahnak2 C T 12: 112,741,019 (GRCm39) A1018T possibly damaging Het
Ahsg T A 16: 22,711,069 (GRCm39) W69R possibly damaging Het
Alox12 T G 11: 70,143,903 (GRCm39) D159A probably damaging Het
Alox12b C G 11: 69,054,884 (GRCm39) P296A possibly damaging Het
Ankrd17 T C 5: 90,380,168 (GRCm39) I2507V probably benign Het
Apeh T C 9: 107,963,045 (GRCm39) M670V possibly damaging Het
Aqp12 C T 1: 92,934,627 (GRCm39) A168V probably benign Het
Ceacam1 A T 7: 25,171,299 (GRCm39) D388E probably damaging Het
Clp1 A T 2: 84,554,266 (GRCm39) I301N probably damaging Het
Dnpep A T 1: 75,291,805 (GRCm39) M238K possibly damaging Het
Dync2h1 A T 9: 6,996,641 (GRCm39) probably benign Het
Edc3 T A 9: 57,623,360 (GRCm39) N98K probably benign Het
Egr3 T A 14: 70,316,349 (GRCm39) N15K probably damaging Het
Fbxo25 T A 8: 13,965,023 (GRCm39) C25S possibly damaging Het
Fgd4 T A 16: 16,240,494 (GRCm39) D745V possibly damaging Het
Flnb T A 14: 7,908,553 (GRCm38) D1310E probably benign Het
Ggnbp2 A G 11: 84,732,448 (GRCm39) F215S probably damaging Het
Gm1979 C T 5: 26,207,032 (GRCm39) R107Q probably benign Het
Gm4847 T A 1: 166,467,677 (GRCm39) H173L probably damaging Het
Gmeb1 A T 4: 131,964,425 (GRCm39) L146H probably damaging Het
Gpr88 A G 3: 116,046,300 (GRCm39) S4P unknown Het
Gucy1a1 A G 3: 82,016,433 (GRCm39) L185P possibly damaging Het
Hsd3b6 G T 3: 98,713,984 (GRCm39) T105N probably damaging Het
Iqca1 T C 1: 89,998,335 (GRCm39) Y546C probably benign Het
Irf1 T A 11: 53,667,196 (GRCm39) I305N probably benign Het
Itgb3 G A 11: 104,556,451 (GRCm39) W764* probably null Het
Klra8 G T 6: 130,096,017 (GRCm39) R192S probably benign Het
Krt79 T A 15: 101,839,922 (GRCm39) I358F probably damaging Het
Mettl4 T C 17: 95,047,843 (GRCm39) D266G possibly damaging Het
Mfsd8 G A 3: 40,786,493 (GRCm39) A219V probably benign Het
Mgam G A 6: 40,691,663 (GRCm39) probably benign Het
Nek9 A T 12: 85,348,616 (GRCm39) C973S probably damaging Het
Or2k2 G T 4: 58,785,374 (GRCm39) A116E possibly damaging Het
Or4f15 A T 2: 111,814,049 (GRCm39) Y123* probably null Het
Or8c13 T C 9: 38,091,780 (GRCm39) Y113C probably damaging Het
Ostc T A 3: 130,503,020 (GRCm39) E2V probably damaging Het
Ostc C A 3: 130,503,021 (GRCm39) E2* probably null Het
Pcdhb8 T A 18: 37,490,585 (GRCm39) C754* probably null Het
Polr1a A G 6: 71,892,053 (GRCm39) T111A possibly damaging Het
Prep C T 10: 44,991,291 (GRCm39) T319M probably benign Het
Reg3b A C 6: 78,349,886 (GRCm39) D142A possibly damaging Het
Retsat A G 6: 72,583,936 (GRCm39) D537G probably benign Het
Rnf2 G A 1: 151,352,030 (GRCm39) L109F probably damaging Het
Rskr A G 11: 78,184,373 (GRCm39) D240G probably damaging Het
Runx3 G T 4: 134,902,656 (GRCm39) R262L probably damaging Het
Rwdd3 G T 3: 120,952,871 (GRCm39) T112K probably benign Het
Scfd2 T C 5: 74,691,931 (GRCm39) H117R possibly damaging Het
Scn10a C T 9: 119,451,958 (GRCm39) V1321M probably damaging Het
Sec31a T C 5: 100,534,040 (GRCm39) E119G possibly damaging Het
Skint6 C A 4: 113,095,347 (GRCm39) G104V probably damaging Het
Slc18a1 T A 8: 69,520,823 (GRCm39) I199F possibly damaging Het
St18 C T 1: 6,873,206 (GRCm39) R314* probably null Het
Sucla2 T G 14: 73,819,068 (GRCm39) probably benign Het
Sulf1 A T 1: 12,878,187 (GRCm39) H225L probably damaging Het
Tas2r140 A G 6: 133,032,380 (GRCm39) V126A possibly damaging Het
Tcp10b T C 17: 13,281,828 (GRCm39) I66T probably damaging Het
Tmem45a2 T C 16: 56,861,115 (GRCm39) I237M probably benign Het
Traf3ip1 C T 1: 91,428,733 (GRCm39) R167* probably null Het
Trav17 T G 14: 54,044,320 (GRCm39) V30G probably damaging Het
Vmn1r54 A G 6: 90,246,100 (GRCm39) N5D probably benign Het
Vmn2r81 A G 10: 79,110,441 (GRCm39) H518R probably benign Het
Washc3 A G 10: 88,051,916 (GRCm39) T102A probably benign Het
Xaf1 A G 11: 72,194,266 (GRCm39) H49R probably damaging Het
Zfp1001 G A 2: 150,165,753 (GRCm39) probably benign Het
Zfp276 T C 8: 123,985,109 (GRCm39) F356L probably damaging Het
Zfp398 G T 6: 47,843,319 (GRCm39) R457L possibly damaging Het
Zfp512 G T 5: 31,637,533 (GRCm39) E541* probably null 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
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
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'- GGTCACCATGGCTGTTTTCC -3'
(R):5'- ATTTCAGGTCAGACTACCGATTAG -3'

Sequencing Primer
(F):5'- GGCATGCCTATATAACTTAGCCTG -3'
(R):5'- TACCGATTAGTCAGATAAAAACAGC -3'
Posted On 2021-11-19