Incidental Mutation 'IGL02216:Cped1'
ID 284885
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Cped1
Ensembl Gene ENSMUSG00000062980
Gene Name cadherin-like and PC-esterase domain containing 1
Synonyms A430107O13Rik
Accession Numbers
Essential gene? Probably non essential (E-score: 0.059) question?
Stock # IGL02216
Quality Score
Status
Chromosome 6
Chromosomal Location 21985915-22256403 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 22059944 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Serine at position 203 (R203S)
Ref Sequence ENSEMBL: ENSMUSP00000111040 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000115382] [ENSMUST00000115383] [ENSMUST00000153922]
AlphaFold B2RX70
Predicted Effect probably damaging
Transcript: ENSMUST00000115382
AA Change: R203S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000111040
Gene: ENSMUSG00000062980
AA Change: R203S

DomainStartEndE-ValueType
transmembrane domain 13 35 N/A INTRINSIC
low complexity region 110 122 N/A INTRINSIC
low complexity region 133 147 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000115383
AA Change: R203S

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000111041
Gene: ENSMUSG00000062980
AA Change: R203S

DomainStartEndE-ValueType
transmembrane domain 13 35 N/A INTRINSIC
low complexity region 110 122 N/A INTRINSIC
low complexity region 133 147 N/A INTRINSIC
Pfam:Cadherin-like 574 663 1e-9 PFAM
Pfam:PC-Esterase 753 1018 2e-26 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000137437
AA Change: R65S

PolyPhen 2 Score 0.316 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000119808
Gene: ENSMUSG00000062980
AA Change: R65S

DomainStartEndE-ValueType
transmembrane domain 13 35 N/A INTRINSIC
low complexity region 110 122 N/A INTRINSIC
low complexity region 133 147 N/A INTRINSIC
Pfam:Cadherin-like 570 663 6.2e-12 PFAM
Pfam:PC-Esterase 753 963 1.6e-33 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000151315
SMART Domains Protein: ENSMUSP00000116822
Gene: ENSMUSG00000062980

DomainStartEndE-ValueType
low complexity region 83 95 N/A INTRINSIC
low complexity region 106 120 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000153922
SMART Domains Protein: ENSMUSP00000138562
Gene: ENSMUSG00000062980

DomainStartEndE-ValueType
transmembrane domain 13 35 N/A INTRINSIC
low complexity region 110 122 N/A INTRINSIC
low complexity region 130 142 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000156621
Predicted Effect noncoding transcript
Transcript: ENSMUST00000180395
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 53 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930544D05Rik T C 11: 70,507,005 (GRCm39) F48L possibly damaging Het
Adamts12 A G 15: 11,241,571 (GRCm39) N381S possibly damaging Het
Akp3 A T 1: 87,055,372 (GRCm39) Q473L probably damaging Het
Albfm1 T C 5: 90,727,438 (GRCm39) probably benign Het
Ap5s1 T A 2: 131,054,887 (GRCm39) probably benign Het
Atp10b T A 11: 43,150,616 (GRCm39) L1438Q probably damaging Het
B3galt4 G A 17: 34,169,539 (GRCm39) P233L probably damaging Het
Brd8 C T 18: 34,735,780 (GRCm39) S899N probably damaging Het
Cc2d1a C A 8: 84,865,942 (GRCm39) E393* probably null Het
Cd209a G T 8: 3,795,576 (GRCm39) T165N probably damaging Het
Chid1 T C 7: 141,076,506 (GRCm39) probably benign Het
Cln3 A T 7: 126,174,514 (GRCm39) probably null Het
Dele1 A T 18: 38,385,913 (GRCm39) I102F probably damaging Het
Dnttip2 G T 3: 122,069,910 (GRCm39) W375L probably benign Het
Dync1h1 T C 12: 110,629,436 (GRCm39) F4280S probably damaging Het
Ephb4 A G 5: 137,370,332 (GRCm39) D844G possibly damaging Het
Fhl2 T A 1: 43,170,879 (GRCm39) E145V probably null Het
Gne T C 4: 44,044,761 (GRCm39) K458E probably benign Het
Grid2 G T 6: 64,322,650 (GRCm39) R550L probably damaging Het
Klhl1 T A 14: 96,360,658 (GRCm39) T731S probably benign Het
Kng1 T A 16: 22,877,283 (GRCm39) D30E probably damaging Het
Kyat1 A G 2: 30,077,264 (GRCm39) V158A probably benign Het
Mcm8 G T 2: 132,681,449 (GRCm39) V642F probably damaging Het
Mdn1 C T 4: 32,739,092 (GRCm39) H3638Y probably benign Het
Neb T G 2: 52,116,502 (GRCm39) T4158P probably benign Het
Neo1 T C 9: 58,824,336 (GRCm39) I697M probably damaging Het
Nfkb1 A T 3: 135,300,724 (GRCm39) V614D probably damaging Het
Or7e169 G A 9: 19,757,861 (GRCm39) S18L probably damaging Het
Otog T C 7: 45,950,892 (GRCm39) S2555P probably damaging Het
Pkd1l1 T A 11: 8,784,897 (GRCm39) R1962S probably damaging Het
Plxnb1 A G 9: 108,929,918 (GRCm39) Y258C probably damaging Het
Pramel12 T A 4: 143,144,298 (GRCm39) probably null Het
Prl3a1 A G 13: 27,454,127 (GRCm39) D35G probably benign Het
Rag1 A T 2: 101,473,726 (GRCm39) V472D possibly damaging Het
Rbpj-ps3 G A 6: 46,506,641 (GRCm39) probably benign Het
Rnf112 C T 11: 61,340,804 (GRCm39) V472M probably damaging Het
Rps18 A G 17: 34,171,015 (GRCm39) probably benign Het
Rptn T C 3: 93,303,080 (GRCm39) S138P possibly damaging Het
Sbpl A C 17: 24,172,690 (GRCm39) N76K probably benign Het
Sh3bp1 A T 15: 78,789,364 (GRCm39) M241L probably benign Het
Slc22a17 T C 14: 55,145,433 (GRCm39) *198W probably null Het
Smc3 C T 19: 53,610,275 (GRCm39) R221C probably damaging Het
Snai1 A G 2: 167,380,768 (GRCm39) E87G probably benign Het
Snx22 C A 9: 65,976,470 (GRCm39) A49S probably benign Het
Tas2r143 A T 6: 42,377,268 (GRCm39) R33* probably null Het
Try4 A G 6: 41,281,965 (GRCm39) I184V probably benign Het
Ttn T A 2: 76,584,896 (GRCm39) K20355* probably null Het
Ttn A G 2: 76,622,069 (GRCm39) V15491A probably benign Het
Tut7 T C 13: 59,948,237 (GRCm39) T293A probably benign Het
Vmn1r170 A G 7: 23,305,915 (GRCm39) T106A probably damaging Het
Vmn2r59 A T 7: 41,661,817 (GRCm39) V666E probably damaging Het
Vsx1 T C 2: 150,526,495 (GRCm39) N221S possibly damaging Het
Zfp846 A G 9: 20,499,905 (GRCm39) E45G probably damaging Het
Other mutations in Cped1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00509:Cped1 APN 6 22,215,522 (GRCm39) missense probably damaging 1.00
IGL00909:Cped1 APN 6 22,122,426 (GRCm39) splice site probably benign
IGL01434:Cped1 APN 6 22,017,004 (GRCm39) missense probably damaging 0.99
IGL01572:Cped1 APN 6 22,051,300 (GRCm39) missense probably benign 0.00
IGL02063:Cped1 APN 6 22,138,701 (GRCm39) missense probably damaging 0.98
IGL02257:Cped1 APN 6 22,145,606 (GRCm39) missense possibly damaging 0.86
IGL02541:Cped1 APN 6 22,120,988 (GRCm39) missense probably benign 0.00
IGL03008:Cped1 APN 6 22,233,601 (GRCm39) missense probably benign 0.01
IGL03237:Cped1 APN 6 22,233,595 (GRCm39) missense probably damaging 1.00
PIT4382001:Cped1 UTSW 6 22,222,449 (GRCm39) nonsense probably null
PIT4812001:Cped1 UTSW 6 22,122,293 (GRCm39) missense probably benign 0.02
R0048:Cped1 UTSW 6 22,119,601 (GRCm39) missense probably benign 0.08
R0128:Cped1 UTSW 6 22,121,038 (GRCm39) missense probably benign 0.00
R0130:Cped1 UTSW 6 22,121,038 (GRCm39) missense probably benign 0.00
R0267:Cped1 UTSW 6 22,119,475 (GRCm39) missense probably damaging 0.99
R0374:Cped1 UTSW 6 22,222,545 (GRCm39) splice site probably benign
R0482:Cped1 UTSW 6 22,016,957 (GRCm39) missense probably benign 0.32
R0734:Cped1 UTSW 6 22,085,040 (GRCm39) missense probably damaging 1.00
R1033:Cped1 UTSW 6 22,016,950 (GRCm39) missense probably damaging 0.99
R1118:Cped1 UTSW 6 22,237,698 (GRCm39) missense probably benign 0.19
R1181:Cped1 UTSW 6 22,215,561 (GRCm39) missense probably damaging 0.99
R1300:Cped1 UTSW 6 22,119,552 (GRCm39) missense probably benign 0.00
R1485:Cped1 UTSW 6 22,132,387 (GRCm39) critical splice donor site probably null
R1507:Cped1 UTSW 6 22,122,260 (GRCm39) missense probably damaging 1.00
R1830:Cped1 UTSW 6 22,237,727 (GRCm39) missense probably damaging 1.00
R1879:Cped1 UTSW 6 22,085,014 (GRCm39) splice site probably null
R1902:Cped1 UTSW 6 22,120,980 (GRCm39) splice site probably null
R1991:Cped1 UTSW 6 22,233,926 (GRCm39) missense probably damaging 1.00
R2020:Cped1 UTSW 6 22,143,963 (GRCm39) missense probably benign 0.38
R2883:Cped1 UTSW 6 22,143,978 (GRCm39) missense probably damaging 1.00
R3011:Cped1 UTSW 6 22,088,695 (GRCm39) missense probably damaging 1.00
R4466:Cped1 UTSW 6 22,123,651 (GRCm39) missense probably benign 0.29
R4668:Cped1 UTSW 6 22,237,652 (GRCm39) missense probably benign 0.06
R4808:Cped1 UTSW 6 22,088,756 (GRCm39) missense probably damaging 1.00
R5402:Cped1 UTSW 6 22,143,951 (GRCm39) missense probably benign 0.05
R5417:Cped1 UTSW 6 22,233,579 (GRCm39) missense probably null 0.01
R5741:Cped1 UTSW 6 22,123,620 (GRCm39) missense probably benign 0.02
R5821:Cped1 UTSW 6 22,138,681 (GRCm39) missense probably benign 0.00
R5977:Cped1 UTSW 6 22,254,607 (GRCm39) missense probably damaging 1.00
R6255:Cped1 UTSW 6 22,138,714 (GRCm39) splice site probably null
R6304:Cped1 UTSW 6 22,016,922 (GRCm39) missense probably benign 0.14
R6416:Cped1 UTSW 6 22,123,648 (GRCm39) missense probably damaging 1.00
R6444:Cped1 UTSW 6 21,986,930 (GRCm39) missense probably benign 0.00
R6617:Cped1 UTSW 6 22,215,546 (GRCm39) nonsense probably null
R6650:Cped1 UTSW 6 22,233,975 (GRCm39) missense probably damaging 1.00
R7048:Cped1 UTSW 6 22,119,469 (GRCm39) missense probably benign 0.36
R7083:Cped1 UTSW 6 22,123,579 (GRCm39) missense probably benign 0.01
R7234:Cped1 UTSW 6 22,254,625 (GRCm39) missense probably damaging 0.99
R7387:Cped1 UTSW 6 22,059,933 (GRCm39) missense probably benign 0.01
R7493:Cped1 UTSW 6 22,215,512 (GRCm39) missense probably damaging 1.00
R7720:Cped1 UTSW 6 22,222,430 (GRCm39) missense probably damaging 1.00
R7747:Cped1 UTSW 6 22,143,973 (GRCm39) missense probably damaging 1.00
R7966:Cped1 UTSW 6 22,059,953 (GRCm39) critical splice donor site probably null
R8113:Cped1 UTSW 6 22,233,480 (GRCm39) missense possibly damaging 0.89
R8186:Cped1 UTSW 6 22,123,587 (GRCm39) missense probably benign 0.01
R8215:Cped1 UTSW 6 22,132,277 (GRCm39) missense probably damaging 1.00
R8265:Cped1 UTSW 6 22,222,426 (GRCm39) missense probably benign 0.04
R8280:Cped1 UTSW 6 21,986,820 (GRCm39) missense unknown
R8286:Cped1 UTSW 6 22,254,601 (GRCm39) missense probably benign 0.03
R8393:Cped1 UTSW 6 22,222,465 (GRCm39) missense possibly damaging 0.80
R8503:Cped1 UTSW 6 22,145,564 (GRCm39) missense probably benign 0.02
R8725:Cped1 UTSW 6 22,059,941 (GRCm39) missense possibly damaging 0.71
R8727:Cped1 UTSW 6 22,059,941 (GRCm39) missense possibly damaging 0.71
R8852:Cped1 UTSW 6 22,215,620 (GRCm39) missense probably damaging 1.00
R8881:Cped1 UTSW 6 22,119,578 (GRCm39) missense possibly damaging 0.58
R8888:Cped1 UTSW 6 22,016,962 (GRCm39) missense possibly damaging 0.51
R8983:Cped1 UTSW 6 22,138,686 (GRCm39) missense probably benign 0.00
R9135:Cped1 UTSW 6 21,987,012 (GRCm39) missense probably damaging 0.98
X0022:Cped1 UTSW 6 21,987,045 (GRCm39) missense probably benign 0.05
Posted On 2015-04-16