Incidental Mutation 'R8852:Cnppd1'
ID 675039
Institutional Source Beutler Lab
Gene Symbol Cnppd1
Ensembl Gene ENSMUSG00000033159
Gene Name cyclin Pas1/PHO80 domain containing 1
Synonyms 1810031K17Rik
MMRRC Submission 068674-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R8852 (G1)
Quality Score 225.009
Status Validated
Chromosome 1
Chromosomal Location 75112406-75119374 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 75113063 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 402 (S402P)
Ref Sequence ENSEMBL: ENSMUSP00000044799 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000027405] [ENSMUST00000041213] [ENSMUST00000168720] [ENSMUST00000189403] [ENSMUST00000189809] [ENSMUST00000190679]
AlphaFold Q8K158
Predicted Effect probably benign
Transcript: ENSMUST00000027405
SMART Domains Protein: ENSMUSP00000027405
Gene: ENSMUSG00000026205

DomainStartEndE-ValueType
low complexity region 20 30 N/A INTRINSIC
Pfam:Xan_ur_permease 50 122 4.6e-12 PFAM
Pfam:Xan_ur_permease 115 476 2.3e-100 PFAM
transmembrane domain 490 512 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000041213
AA Change: S402P

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000044799
Gene: ENSMUSG00000033159
AA Change: S402P

DomainStartEndE-ValueType
Pfam:Cyclin 72 174 7.5e-10 PFAM
low complexity region 231 252 N/A INTRINSIC
low complexity region 256 268 N/A INTRINSIC
low complexity region 310 331 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000168720
AA Change: S402P

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000132688
Gene: ENSMUSG00000033159
AA Change: S402P

DomainStartEndE-ValueType
Pfam:Cyclin 49 174 5.2e-13 PFAM
Pfam:Cyclin_N 55 175 4.4e-6 PFAM
low complexity region 231 252 N/A INTRINSIC
low complexity region 256 268 N/A INTRINSIC
low complexity region 310 331 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000189403
SMART Domains Protein: ENSMUSP00000141062
Gene: ENSMUSG00000033159

DomainStartEndE-ValueType
Pfam:Cyclin 44 170 1.2e-9 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000189809
SMART Domains Protein: ENSMUSP00000140262
Gene: ENSMUSG00000033159

DomainStartEndE-ValueType
Blast:CYCLIN 81 114 1e-10 BLAST
Predicted Effect probably damaging
Transcript: ENSMUST00000190679
AA Change: S402P

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000140289
Gene: ENSMUSG00000033159
AA Change: S402P

DomainStartEndE-ValueType
Pfam:Cyclin 49 174 5.2e-13 PFAM
Pfam:Cyclin_N 55 175 4.4e-6 PFAM
low complexity region 231 252 N/A INTRINSIC
low complexity region 256 268 N/A INTRINSIC
low complexity region 310 331 N/A INTRINSIC
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.4%
Validation Efficiency 100% (53/53)
Allele List at MGI
Other mutations in this stock
Total: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2700049A03Rik T G 12: 71,231,197 (GRCm39) V985G possibly damaging Het
Acr T G 15: 89,458,057 (GRCm39) M246R probably damaging Het
Adgrf5 G T 17: 43,763,989 (GRCm39) V1304L possibly damaging Het
Ago4 A T 4: 126,387,043 (GRCm39) D853E probably benign Het
Arvcf C A 16: 18,222,203 (GRCm39) D790E probably benign Het
Atp8a2 A C 14: 60,162,545 (GRCm39) D725E probably damaging Het
C2cd5 A G 6: 143,028,946 (GRCm39) Y98H probably benign Het
Camkk2 T C 5: 122,891,820 (GRCm39) Y234C probably damaging Het
Ccdc106 A G 7: 5,062,570 (GRCm39) D192G probably benign Het
Ccm2l T C 2: 152,916,788 (GRCm39) Y340H probably damaging Het
Chd1l A G 3: 97,477,685 (GRCm39) F690S probably benign Het
Chuk A G 19: 44,076,407 (GRCm39) S435P possibly damaging Het
Cisd3 T A 11: 97,576,703 (GRCm39) S10T probably benign Het
Cped1 A G 6: 22,215,620 (GRCm39) D718G probably damaging Het
Crtc1 A G 8: 70,840,805 (GRCm39) S474P probably damaging Het
Dcpp3 G T 17: 24,138,123 (GRCm39) E94* probably null Het
Dhx38 A T 8: 110,289,361 (GRCm39) L13* probably null Het
Dmbt1 T C 7: 130,642,853 (GRCm39) Y120H unknown Het
Fntb T A 12: 76,934,826 (GRCm39) V201E possibly damaging Het
Gga3 T C 11: 115,481,244 (GRCm39) D242G probably benign Het
Gsx2 T C 5: 75,236,996 (GRCm39) M192T possibly damaging Het
Hif3a A T 7: 16,774,912 (GRCm39) M562K probably benign Het
Irf5 G A 6: 29,535,997 (GRCm39) R337H probably damaging Het
Kcnmb3 A G 3: 32,526,624 (GRCm39) V189A possibly damaging Het
Letmd1 A G 15: 100,373,247 (GRCm39) T241A probably benign Het
Lrrc14b T A 13: 74,509,408 (GRCm39) D333V probably damaging Het
Meaf6 T A 4: 124,979,990 (GRCm39) L48Q probably damaging Het
Miip T A 4: 147,950,839 (GRCm39) probably benign Het
Muc4 A G 16: 32,569,461 (GRCm39) T236A possibly damaging Het
Myh4 T A 11: 67,132,335 (GRCm39) I155N probably damaging Het
Obscn C T 11: 58,898,440 (GRCm39) R6607Q unknown Het
Or2ak7 C T 11: 58,574,966 (GRCm39) T89I probably benign Het
Or5v1 G A 17: 37,810,321 (GRCm39) V260M probably benign Het
Otof T C 5: 30,529,044 (GRCm39) N1788S possibly damaging Het
Psapl1 T C 5: 36,362,314 (GRCm39) L302S probably damaging Het
Rdh8 A C 9: 20,734,021 (GRCm39) N69T probably benign Het
Ryr3 T C 2: 112,624,844 (GRCm39) E2212G probably damaging Het
Septin7 A T 9: 25,163,980 (GRCm39) N16Y possibly damaging Het
Slc22a17 A T 14: 55,146,436 (GRCm39) L60Q probably damaging Het
Snrnp200 T C 2: 127,060,349 (GRCm39) I531T probably damaging Het
Ssh3 A T 19: 4,317,992 (GRCm39) V41E probably damaging Het
Tars1 G T 15: 11,393,348 (GRCm39) N115K probably benign Het
Tomm6 G C 17: 47,998,850 (GRCm39) F34L possibly damaging Het
Txnrd2 G A 16: 18,259,601 (GRCm39) V173M possibly damaging Het
Uba6 T A 5: 86,289,454 (GRCm39) I450F possibly damaging Het
Vmn2r95 G T 17: 18,664,113 (GRCm39) S516I possibly damaging Het
Vps4b A G 1: 106,710,414 (GRCm39) F156L possibly damaging Het
Zfp354c T A 11: 50,706,019 (GRCm39) H352L probably damaging Het
Zfp521 T C 18: 14,072,150 (GRCm39) D30G probably benign Het
Zic2 A T 14: 122,713,530 (GRCm39) H148L possibly damaging Het
Other mutations in Cnppd1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01820:Cnppd1 APN 1 75,116,236 (GRCm39) splice site probably null
R0279:Cnppd1 UTSW 1 75,113,573 (GRCm39) missense probably damaging 0.97
R4843:Cnppd1 UTSW 1 75,113,086 (GRCm39) missense probably benign
R5860:Cnppd1 UTSW 1 75,113,131 (GRCm39) missense probably benign
R6622:Cnppd1 UTSW 1 75,113,539 (GRCm39) missense probably damaging 1.00
R7301:Cnppd1 UTSW 1 75,113,068 (GRCm39) missense probably damaging 1.00
R8860:Cnppd1 UTSW 1 75,113,063 (GRCm39) missense probably damaging 1.00
R8967:Cnppd1 UTSW 1 75,113,265 (GRCm39) nonsense probably null
R9231:Cnppd1 UTSW 1 75,116,261 (GRCm39) missense possibly damaging 0.46
R9367:Cnppd1 UTSW 1 75,117,617 (GRCm39) missense probably benign 0.00
Z1176:Cnppd1 UTSW 1 75,117,595 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TCTAGGAGAGTGAACGACCTTG -3'
(R):5'- ACAAATGTCCCCTTTGCCAG -3'

Sequencing Primer
(F):5'- GTGAACGACCTTGTAATGCC -3'
(R):5'- TTTGCCAGAAGTTCCAGAGACTC -3'
Posted On 2021-07-15