Incidental Mutation 'IGL02948:Cntn1'
ID 364835
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Cntn1
Ensembl Gene ENSMUSG00000055022
Gene Name contactin 1
Synonyms F3cam, usl, CNTN
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL02948
Quality Score
Status
Chromosome 15
Chromosomal Location 91949034-92239834 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 92143891 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 285 (T285A)
Ref Sequence ENSEMBL: ENSMUSP00000133063 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000000109] [ENSMUST00000068378] [ENSMUST00000169825]
AlphaFold P12960
Predicted Effect probably benign
Transcript: ENSMUST00000000109
AA Change: T285A

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
SMART Domains Protein: ENSMUSP00000000109
Gene: ENSMUSG00000055022
AA Change: T285A

DomainStartEndE-ValueType
signal peptide 1 20 N/A INTRINSIC
IGc2 56 121 4.07e-4 SMART
IG 143 232 1.25e-4 SMART
IGc2 254 317 1.24e-17 SMART
IGc2 343 398 4.22e-11 SMART
IGc2 427 491 2.52e-9 SMART
IG 511 603 3.51e-8 SMART
FN3 606 692 6.69e-12 SMART
FN3 709 795 1.17e-2 SMART
FN3 811 892 1.16e-6 SMART
FN3 907 987 2.46e-1 SMART
low complexity region 995 1018 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000068378
AA Change: T285A

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
SMART Domains Protein: ENSMUSP00000067842
Gene: ENSMUSG00000055022
AA Change: T285A

DomainStartEndE-ValueType
signal peptide 1 20 N/A INTRINSIC
IGc2 56 121 4.07e-4 SMART
IG 143 232 1.25e-4 SMART
IGc2 254 317 1.24e-17 SMART
IGc2 343 398 4.22e-11 SMART
IGc2 427 491 2.52e-9 SMART
IG 511 603 3.51e-8 SMART
FN3 606 692 6.69e-12 SMART
FN3 709 795 1.17e-2 SMART
FN3 811 892 1.16e-6 SMART
FN3 907 987 2.46e-1 SMART
low complexity region 995 1018 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000141187
Predicted Effect probably benign
Transcript: ENSMUST00000169825
AA Change: T285A

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
SMART Domains Protein: ENSMUSP00000133063
Gene: ENSMUSG00000055022
AA Change: T285A

DomainStartEndE-ValueType
signal peptide 1 20 N/A INTRINSIC
IGc2 56 121 4.07e-4 SMART
IG 143 232 1.25e-4 SMART
IGc2 254 317 1.24e-17 SMART
IGc2 343 398 4.22e-11 SMART
IGc2 427 491 2.52e-9 SMART
IG 511 603 3.51e-8 SMART
FN3 606 692 6.69e-12 SMART
FN3 709 795 1.17e-2 SMART
FN3 811 892 1.16e-6 SMART
FN3 907 987 2.46e-1 SMART
low complexity region 995 1018 N/A INTRINSIC
Coding Region Coverage
Validation Efficiency
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. It 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. Multiple alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2011]
PHENOTYPE: Mutations of this gene result in growth retardation, progressive ataxia and death prior to weaning. A targeted null mutation, but not a spontaneous mutation, causes a small cerebellum with abnormalities of the molecular layer and abnormal Purkinje cellaxon morphology. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aass A T 6: 23,094,318 (GRCm39) probably benign Het
Ano3 A T 2: 110,527,363 (GRCm39) probably benign Het
Arpp21 T C 9: 112,005,268 (GRCm39) Y193C probably damaging Het
Atm G A 9: 53,364,740 (GRCm39) probably benign Het
Ceacam13 C T 7: 17,744,988 (GRCm39) probably benign Het
Cenpi T A X: 133,250,017 (GRCm39) C599S possibly damaging Het
Clec7a A C 6: 129,442,441 (GRCm39) D195E possibly damaging Het
Cnksr1 T C 4: 133,962,417 (GRCm39) probably null Het
Dusp4 G T 8: 35,285,726 (GRCm39) G329V probably damaging Het
Emb C A 13: 117,409,602 (GRCm39) probably benign Het
Esyt1 A T 10: 128,355,040 (GRCm39) S496T probably damaging Het
Evpl T C 11: 116,112,648 (GRCm39) T1681A probably damaging Het
Fam131b A C 6: 42,297,926 (GRCm39) probably benign Het
Fam162b T C 10: 51,463,392 (GRCm39) M92V probably damaging Het
Fbxw2 T C 2: 34,695,723 (GRCm39) *455W probably null Het
Gm12886 A G 4: 121,280,234 (GRCm39) L14P unknown Het
Gpc4 A T X: 51,163,178 (GRCm39) V235E probably damaging Het
Gss A G 2: 155,419,541 (GRCm39) L170P probably damaging Het
Hbs1l C T 10: 21,217,610 (GRCm39) probably benign Het
Hhatl T C 9: 121,618,857 (GRCm39) M92V probably benign Het
Hhla1 A T 15: 65,814,542 (GRCm39) L194H probably damaging Het
Hivep2 C A 10: 14,004,757 (GRCm39) R452S probably benign Het
Homer2 C A 7: 81,299,393 (GRCm39) W24L probably damaging Het
Lhcgr A T 17: 89,050,050 (GRCm39) L492H probably damaging Het
Lrba C A 3: 86,217,691 (GRCm39) probably null Het
Lrp2 G T 2: 69,318,181 (GRCm39) P2090Q probably damaging Het
Lyl1 C T 8: 85,429,300 (GRCm39) P3L possibly damaging Het
Madd T A 2: 90,973,172 (GRCm39) M1497L probably benign Het
Naprt C T 15: 75,764,206 (GRCm39) R336Q probably damaging Het
Nars1 A G 18: 64,638,266 (GRCm39) C266R possibly damaging Het
Or10v1 T A 19: 11,874,145 (GRCm39) Y253* probably null Het
Or5k8 T A 16: 58,644,451 (GRCm39) Q207L probably benign Het
Pard3 A T 8: 128,032,975 (GRCm39) T190S probably benign Het
Pstpip2 A G 18: 77,942,507 (GRCm39) N86S probably benign Het
Ptgfrn T C 3: 100,980,135 (GRCm39) T402A probably benign Het
Rnf130 T C 11: 49,943,598 (GRCm39) probably benign Het
Ropn1l T C 15: 31,451,325 (GRCm39) D53G possibly damaging Het
Rps6ka2 G A 17: 7,521,849 (GRCm39) probably null Het
Rtn2 T C 7: 19,027,036 (GRCm39) S17P probably damaging Het
Shank2 T C 7: 143,963,373 (GRCm39) V327A probably benign Het
Slc22a16 T G 10: 40,449,958 (GRCm39) Y131* probably null Het
Slc28a2 T A 2: 122,288,458 (GRCm39) M583K possibly damaging Het
Slco1a6 G T 6: 142,078,961 (GRCm39) probably null Het
Slfn8 T A 11: 82,894,078 (GRCm39) I854F probably damaging Het
Strip1 T C 3: 107,520,582 (GRCm39) R823G probably benign Het
Stxbp2 A T 8: 3,691,971 (GRCm39) I538F probably benign Het
Tcl1b5 C T 12: 105,145,273 (GRCm39) T79M probably benign Het
Tmem104 G T 11: 115,088,122 (GRCm39) A36S probably damaging Het
Trim55 T A 3: 19,725,116 (GRCm39) L211Q probably damaging Het
Trim80 T C 11: 115,332,419 (GRCm39) W204R possibly damaging Het
Ttbk1 G A 17: 46,757,256 (GRCm39) T1126I probably benign Het
Ubqln2 C T X: 152,282,692 (GRCm39) Q415* probably null Het
Unc13a C T 8: 72,103,193 (GRCm39) R931H possibly damaging Het
Utp4 T A 8: 107,621,273 (GRCm39) S17T probably benign Het
Other mutations in Cntn1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00158:Cntn1 APN 15 92,148,758 (GRCm39) missense possibly damaging 0.92
IGL01109:Cntn1 APN 15 92,237,458 (GRCm39) nonsense probably null
IGL01399:Cntn1 APN 15 92,203,025 (GRCm39) missense probably damaging 1.00
IGL01714:Cntn1 APN 15 92,151,870 (GRCm39) nonsense probably null
IGL02052:Cntn1 APN 15 92,189,584 (GRCm39) missense possibly damaging 0.95
IGL02342:Cntn1 APN 15 92,143,898 (GRCm39) missense probably benign 0.01
IGL02507:Cntn1 APN 15 92,148,860 (GRCm39) missense possibly damaging 0.92
IGL02511:Cntn1 APN 15 92,114,266 (GRCm39) start gained probably benign
IGL02702:Cntn1 APN 15 92,189,482 (GRCm39) splice site probably benign
IGL02927:Cntn1 APN 15 92,189,561 (GRCm39) missense probably benign 0.12
R0035:Cntn1 UTSW 15 92,129,969 (GRCm39) splice site probably benign
R0084:Cntn1 UTSW 15 92,215,798 (GRCm39) missense probably benign 0.01
R0346:Cntn1 UTSW 15 92,129,968 (GRCm39) splice site probably benign
R0634:Cntn1 UTSW 15 92,212,444 (GRCm39) nonsense probably null
R1348:Cntn1 UTSW 15 92,212,544 (GRCm39) missense probably damaging 1.00
R1613:Cntn1 UTSW 15 92,143,871 (GRCm39) missense possibly damaging 0.60
R1793:Cntn1 UTSW 15 92,189,552 (GRCm39) missense possibly damaging 0.92
R1815:Cntn1 UTSW 15 92,148,829 (GRCm39) missense probably benign 0.00
R1851:Cntn1 UTSW 15 92,203,021 (GRCm39) missense probably damaging 1.00
R1852:Cntn1 UTSW 15 92,203,021 (GRCm39) missense probably damaging 1.00
R2068:Cntn1 UTSW 15 92,215,943 (GRCm39) missense possibly damaging 0.82
R2269:Cntn1 UTSW 15 92,192,863 (GRCm39) splice site probably benign
R4394:Cntn1 UTSW 15 92,189,645 (GRCm39) missense probably damaging 1.00
R4667:Cntn1 UTSW 15 92,192,960 (GRCm39) missense probably damaging 1.00
R4771:Cntn1 UTSW 15 92,202,972 (GRCm39) missense possibly damaging 0.82
R4944:Cntn1 UTSW 15 92,126,549 (GRCm39) missense probably damaging 1.00
R5044:Cntn1 UTSW 15 92,140,876 (GRCm39) missense probably damaging 1.00
R5218:Cntn1 UTSW 15 92,237,430 (GRCm39) missense unknown
R5314:Cntn1 UTSW 15 92,192,892 (GRCm39) missense probably benign 0.01
R5445:Cntn1 UTSW 15 92,192,958 (GRCm39) missense probably damaging 1.00
R5518:Cntn1 UTSW 15 92,212,534 (GRCm39) missense probably benign 0.00
R6849:Cntn1 UTSW 15 92,203,127 (GRCm39) missense probably damaging 0.99
R6885:Cntn1 UTSW 15 92,140,980 (GRCm39) critical splice donor site probably null
R7035:Cntn1 UTSW 15 92,212,392 (GRCm39) missense probably benign 0.04
R7070:Cntn1 UTSW 15 92,151,917 (GRCm39) missense probably damaging 1.00
R7287:Cntn1 UTSW 15 92,143,833 (GRCm39) splice site probably null
R7311:Cntn1 UTSW 15 92,130,156 (GRCm39) critical splice donor site probably null
R7401:Cntn1 UTSW 15 92,215,870 (GRCm39) missense probably benign
R7484:Cntn1 UTSW 15 92,151,922 (GRCm39) missense probably benign 0.00
R7492:Cntn1 UTSW 15 92,212,423 (GRCm39) missense probably benign
R7617:Cntn1 UTSW 15 92,143,970 (GRCm39) missense probably damaging 1.00
R7644:Cntn1 UTSW 15 92,207,890 (GRCm39) missense probably benign 0.14
R7878:Cntn1 UTSW 15 92,192,934 (GRCm39) missense probably damaging 1.00
R8354:Cntn1 UTSW 15 92,130,130 (GRCm39) missense probably benign
R8454:Cntn1 UTSW 15 92,130,130 (GRCm39) missense probably benign
R8465:Cntn1 UTSW 15 92,237,404 (GRCm39) frame shift probably null
R8757:Cntn1 UTSW 15 92,153,801 (GRCm39) missense possibly damaging 0.90
R8759:Cntn1 UTSW 15 92,153,801 (GRCm39) missense possibly damaging 0.90
R8767:Cntn1 UTSW 15 92,132,347 (GRCm39) missense probably damaging 1.00
R8768:Cntn1 UTSW 15 92,132,347 (GRCm39) missense probably damaging 1.00
R8885:Cntn1 UTSW 15 92,159,380 (GRCm39) missense probably benign 0.00
R8972:Cntn1 UTSW 15 92,150,278 (GRCm39) missense probably benign 0.18
R8993:Cntn1 UTSW 15 92,132,347 (GRCm39) missense probably damaging 1.00
R8995:Cntn1 UTSW 15 92,132,347 (GRCm39) missense probably damaging 1.00
R8997:Cntn1 UTSW 15 92,132,347 (GRCm39) missense probably damaging 1.00
R9151:Cntn1 UTSW 15 92,140,864 (GRCm39) missense probably damaging 1.00
R9438:Cntn1 UTSW 15 92,144,024 (GRCm39) critical splice donor site probably null
R9493:Cntn1 UTSW 15 92,189,644 (GRCm39) missense probably damaging 1.00
Z1177:Cntn1 UTSW 15 92,207,851 (GRCm39) missense probably damaging 1.00
Posted On 2015-12-18