Incidental Mutation 'IGL01623:Ccser2'
ID 278693
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ccser2
Ensembl Gene ENSMUSG00000058690
Gene Name coiled-coil serine rich 2
Synonyms 2900054P12Rik, 1700012P13Rik, Gcap14
Accession Numbers
Essential gene? Probably non essential (E-score: 0.172) question?
Stock # IGL01623
Quality Score
Status
Chromosome 14
Chromosomal Location 36596893-36690734 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 36662920 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Lysine at position 88 (T88K)
Ref Sequence ENSEMBL: ENSMUSP00000087478 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000067700] [ENSMUST00000090024]
AlphaFold Q3UHI0
Predicted Effect probably benign
Transcript: ENSMUST00000067700
AA Change: T88K

PolyPhen 2 Score 0.027 (Sensitivity: 0.95; Specificity: 0.81)
SMART Domains Protein: ENSMUSP00000068550
Gene: ENSMUSG00000058690
AA Change: T88K

DomainStartEndE-ValueType
low complexity region 50 63 N/A INTRINSIC
low complexity region 124 135 N/A INTRINSIC
coiled coil region 157 194 N/A INTRINSIC
low complexity region 221 234 N/A INTRINSIC
low complexity region 331 342 N/A INTRINSIC
low complexity region 365 385 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000090024
AA Change: T88K

PolyPhen 2 Score 0.027 (Sensitivity: 0.95; Specificity: 0.81)
SMART Domains Protein: ENSMUSP00000087478
Gene: ENSMUSG00000058690
AA Change: T88K

DomainStartEndE-ValueType
low complexity region 389 412 N/A INTRINSIC
low complexity region 496 506 N/A INTRINSIC
low complexity region 543 562 N/A INTRINSIC
low complexity region 603 616 N/A INTRINSIC
low complexity region 677 688 N/A INTRINSIC
coiled coil region 710 747 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000182635
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 53 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930596D02Rik G A 14: 35,532,024 (GRCm39) Q184* probably null Het
A1bg A C 15: 60,789,742 (GRCm39) I502S possibly damaging Het
Actl11 T C 9: 107,805,775 (GRCm39) S33P probably benign Het
Aftph G T 11: 20,659,632 (GRCm39) D730E probably damaging Het
Arhgap29 A G 3: 121,767,773 (GRCm39) probably benign Het
Brf1 T G 12: 112,924,795 (GRCm39) E643A probably benign Het
Caskin1 G T 17: 24,722,914 (GRCm39) probably null Het
Ccnjl T C 11: 43,476,154 (GRCm39) V259A probably benign Het
Cdk17 T C 10: 93,074,824 (GRCm39) probably benign Het
Clec16a G A 16: 10,395,774 (GRCm39) S309N possibly damaging Het
Cpxm1 C A 2: 130,233,191 (GRCm39) A633S probably benign Het
Ctnnbl1 A T 2: 157,661,468 (GRCm39) N326I probably damaging Het
Cyp46a1 T C 12: 108,318,234 (GRCm39) V215A possibly damaging Het
Dnah6 T C 6: 73,121,701 (GRCm39) Y1427C probably damaging Het
Dpy19l3 G A 7: 35,422,169 (GRCm39) T228I probably damaging Het
Fam131c C T 4: 141,109,761 (GRCm39) A131V possibly damaging Het
Fat1 A G 8: 45,482,592 (GRCm39) T3061A possibly damaging Het
Fgl2 T A 5: 21,578,175 (GRCm39) L154H possibly damaging Het
Fhod3 T A 18: 25,155,924 (GRCm39) I514K probably benign Het
Frem3 A G 8: 81,340,544 (GRCm39) T946A probably benign Het
Gan T A 8: 117,913,917 (GRCm39) V105D probably damaging Het
Garin5b A G 7: 4,761,722 (GRCm39) V330A probably benign Het
Gm28043 T C 17: 29,895,222 (GRCm39) F134L probably benign Het
Gramd1c A G 16: 43,811,061 (GRCm39) V221A probably damaging Het
Hacd1 A G 2: 14,040,667 (GRCm39) V196A probably benign Het
Kcna6 C A 6: 126,715,576 (GRCm39) V438L probably damaging Het
Klhl41 T C 2: 69,508,582 (GRCm39) V512A probably benign Het
Lrfn1 A G 7: 28,166,111 (GRCm39) T502A probably damaging Het
Notch3 A T 17: 32,377,844 (GRCm39) F105I possibly damaging Het
Or4b13 T G 2: 90,082,953 (GRCm39) K126N probably damaging Het
Or5m10 A T 2: 85,717,306 (GRCm39) H54L probably benign Het
P3h1 C T 4: 119,092,480 (GRCm39) T171I probably damaging Het
Pcdhb1 A G 18: 37,399,366 (GRCm39) E439G possibly damaging Het
Pik3c3 A T 18: 30,423,578 (GRCm39) K225* probably null Het
Pik3c3 A G 18: 30,426,102 (GRCm39) probably benign Het
Pik3r5 T A 11: 68,377,452 (GRCm39) probably null Het
Pnpt1 A C 11: 29,098,272 (GRCm39) probably benign Het
Ppp2r1b T A 9: 50,789,422 (GRCm39) V495D probably damaging Het
Rbfox3 C A 11: 118,396,440 (GRCm39) probably benign Het
Sec14l2 G A 11: 4,053,966 (GRCm39) P234S possibly damaging Het
Sec16a A C 2: 26,328,915 (GRCm39) D1033E probably benign Het
Septin14 A G 5: 129,763,019 (GRCm39) V357A probably damaging Het
Setx T C 2: 29,053,021 (GRCm39) V2095A possibly damaging Het
Sf3a3 C T 4: 124,612,136 (GRCm39) T131I possibly damaging Het
Snrpa A T 7: 26,892,395 (GRCm39) M55K probably benign Het
Swt1 G T 1: 151,286,760 (GRCm39) T244N probably benign Het
Tbl1xr1 A G 3: 22,246,238 (GRCm39) T253A probably benign Het
Tst G T 15: 78,283,964 (GRCm39) R288S probably benign Het
Vmn2r60 A G 7: 41,785,910 (GRCm39) I238V probably benign Het
Zbtb14 A G 17: 69,695,184 (GRCm39) K294R probably benign Het
Zfp710 T A 7: 79,730,871 (GRCm39) V16E probably damaging Het
Zfpm2 A G 15: 40,965,320 (GRCm39) T602A probably benign Het
Zfr2 G A 10: 81,087,193 (GRCm39) M850I probably benign Het
Other mutations in Ccser2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00486:Ccser2 APN 14 36,662,021 (GRCm39) missense probably damaging 1.00
IGL01285:Ccser2 APN 14 36,660,626 (GRCm39) missense probably damaging 1.00
IGL01622:Ccser2 APN 14 36,662,920 (GRCm39) missense probably benign 0.03
IGL02322:Ccser2 APN 14 36,631,086 (GRCm39) missense probably damaging 1.00
IGL02342:Ccser2 APN 14 36,640,562 (GRCm39) splice site probably benign
IGL02899:Ccser2 APN 14 36,662,716 (GRCm39) missense probably benign 0.39
R0433:Ccser2 UTSW 14 36,640,486 (GRCm39) missense probably damaging 1.00
R0543:Ccser2 UTSW 14 36,662,149 (GRCm39) missense probably benign
R0674:Ccser2 UTSW 14 36,640,548 (GRCm39) missense possibly damaging 0.94
R0853:Ccser2 UTSW 14 36,662,367 (GRCm39) missense probably benign 0.18
R0964:Ccser2 UTSW 14 36,630,965 (GRCm39) splice site probably benign
R1748:Ccser2 UTSW 14 36,618,271 (GRCm39) nonsense probably null
R1748:Ccser2 UTSW 14 36,618,270 (GRCm39) missense probably damaging 1.00
R1854:Ccser2 UTSW 14 36,640,548 (GRCm39) missense possibly damaging 0.94
R2405:Ccser2 UTSW 14 36,660,626 (GRCm39) missense probably damaging 1.00
R2926:Ccser2 UTSW 14 36,601,518 (GRCm39) missense possibly damaging 0.91
R3846:Ccser2 UTSW 14 36,662,245 (GRCm39) missense probably benign
R4298:Ccser2 UTSW 14 36,612,337 (GRCm39) missense possibly damaging 0.63
R4701:Ccser2 UTSW 14 36,660,654 (GRCm39) missense probably damaging 1.00
R4746:Ccser2 UTSW 14 36,631,082 (GRCm39) missense probably damaging 1.00
R4888:Ccser2 UTSW 14 36,662,343 (GRCm39) missense probably damaging 0.98
R4959:Ccser2 UTSW 14 36,662,753 (GRCm39) missense probably benign 0.00
R5020:Ccser2 UTSW 14 36,662,134 (GRCm39) missense probably benign 0.00
R5179:Ccser2 UTSW 14 36,601,308 (GRCm39) missense possibly damaging 0.79
R5378:Ccser2 UTSW 14 36,601,391 (GRCm39) missense possibly damaging 0.65
R6011:Ccser2 UTSW 14 36,601,532 (GRCm39) missense probably benign 0.17
R6057:Ccser2 UTSW 14 36,663,122 (GRCm39) missense probably damaging 0.98
R6180:Ccser2 UTSW 14 36,662,276 (GRCm39) missense probably benign
R6216:Ccser2 UTSW 14 36,662,465 (GRCm39) missense probably damaging 1.00
R6244:Ccser2 UTSW 14 36,662,675 (GRCm39) missense probably benign 0.00
R6266:Ccser2 UTSW 14 36,601,632 (GRCm39) missense probably damaging 1.00
R6730:Ccser2 UTSW 14 36,601,043 (GRCm39) missense probably damaging 1.00
R6862:Ccser2 UTSW 14 36,662,038 (GRCm39) missense probably benign
R7025:Ccser2 UTSW 14 36,661,964 (GRCm39) missense probably damaging 1.00
R7076:Ccser2 UTSW 14 36,661,786 (GRCm39) missense probably benign 0.14
R7092:Ccser2 UTSW 14 36,662,612 (GRCm39) missense probably benign 0.03
R7353:Ccser2 UTSW 14 36,663,100 (GRCm39) missense possibly damaging 0.91
R7440:Ccser2 UTSW 14 36,620,174 (GRCm39) missense possibly damaging 0.92
R7509:Ccser2 UTSW 14 36,660,602 (GRCm39) missense probably damaging 1.00
R7555:Ccser2 UTSW 14 36,601,457 (GRCm39) missense possibly damaging 0.65
R7770:Ccser2 UTSW 14 36,648,831 (GRCm39) missense probably damaging 1.00
R8103:Ccser2 UTSW 14 36,618,240 (GRCm39) missense probably damaging 1.00
R8194:Ccser2 UTSW 14 36,618,220 (GRCm39) missense probably damaging 1.00
R8356:Ccser2 UTSW 14 36,612,331 (GRCm39) missense probably benign 0.00
R8456:Ccser2 UTSW 14 36,612,331 (GRCm39) missense probably benign 0.00
R8805:Ccser2 UTSW 14 36,601,712 (GRCm39) missense probably damaging 1.00
R8890:Ccser2 UTSW 14 36,601,352 (GRCm39) missense probably damaging 0.98
R8994:Ccser2 UTSW 14 36,662,076 (GRCm39) missense probably benign 0.06
R9274:Ccser2 UTSW 14 36,660,737 (GRCm39) missense possibly damaging 0.54
R9425:Ccser2 UTSW 14 36,601,163 (GRCm39) missense probably benign 0.01
R9502:Ccser2 UTSW 14 36,631,090 (GRCm39) missense probably benign 0.01
R9644:Ccser2 UTSW 14 36,601,150 (GRCm39) missense possibly damaging 0.90
X0066:Ccser2 UTSW 14 36,662,956 (GRCm39) nonsense probably null
Posted On 2015-04-16