Incidental Mutation 'R3872:Pde10a'
ID 474305
Institutional Source Beutler Lab
Gene Symbol Pde10a
Ensembl Gene ENSMUSG00000023868
Gene Name phosphodiesterase 10A
Synonyms
MMRRC Submission 040790-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R3872 (G1)
Quality Score 99
Status Not validated
Chromosome 17
Chromosomal Location 8744204-9205480 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 8975923 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Lysine at position 16 (T16K)
Ref Sequence ENSEMBL: ENSMUSP00000111387 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000115715] [ENSMUST00000115722] [ENSMUST00000115724]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000115715
SMART Domains Protein: ENSMUSP00000111380
Gene: ENSMUSG00000023868

DomainStartEndE-ValueType
GAF 21 174 1.44e-3 SMART
GAF 196 352 6.56e-29 SMART
HDc 442 608 9.04e-7 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000115722
AA Change: T16K

PolyPhen 2 Score 0.915 (Sensitivity: 0.81; Specificity: 0.94)
Predicted Effect probably benign
Transcript: ENSMUST00000115724
AA Change: T76K

PolyPhen 2 Score 0.044 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000111389
Gene: ENSMUSG00000023868
AA Change: T76K

DomainStartEndE-ValueType
GAF 95 248 1.44e-3 SMART
GAF 270 426 6.56e-29 SMART
HDc 516 682 9.04e-7 SMART
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.5%
  • 20x: 95.7%
Validation Efficiency 98% (61/62)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene belongs to the cyclic nucleotide phosphodiesterase family. It plays a role in signal transduction by regulating the intracellular concentration of cyclic nucleotides. This protein can hydrolyze both cAMP and cGMP to the corresponding nucleoside 5' monophosphate, but has higher affinity for cAMP, and is more efficient with cAMP as substrate. Alternatively spliced transcript variants have been described for this gene. [provided by RefSeq, Dec 2011]
PHENOTYPE: Homozygous mutation of this gene results in decreased exploratory behavior, hypoactivity, and a delay in the acquisition of conditioned avoidance behavior. A hypomorphic allele results in increased social behavior. Mice homozygous for a knock-out allele exhibit resistance to diet-induced obesity. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 60 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aatk T C 11: 119,901,045 (GRCm39) E1117G possibly damaging Het
Abca5 T A 11: 110,201,059 (GRCm39) Y447F probably damaging Het
Akap12 G A 10: 4,307,590 (GRCm39) V1467I probably benign Het
Baz2a T A 10: 127,959,979 (GRCm39) M1419K probably damaging Het
Bhmt-ps1 T C 4: 26,369,201 (GRCm39) noncoding transcript Het
Cabcoco1 T C 10: 68,352,108 (GRCm39) Y68C probably damaging Het
Car12 C A 9: 66,624,834 (GRCm39) probably benign Het
Cic T C 7: 24,971,124 (GRCm39) V285A possibly damaging Het
Col19a1 A G 1: 24,614,408 (GRCm39) probably benign Het
Col6a4 T C 9: 105,890,858 (GRCm39) N1812S possibly damaging Het
Cry1 T C 10: 84,969,024 (GRCm39) probably null Het
Dlgap4 T C 2: 156,591,267 (GRCm39) S818P probably benign Het
Dlx5 G T 6: 6,878,209 (GRCm39) P274T probably benign Het
Dnah2 A G 11: 69,320,174 (GRCm39) I3965T probably damaging Het
Dnah5 A G 15: 28,411,656 (GRCm39) K3675R possibly damaging Het
Dpp6 A G 5: 27,926,056 (GRCm39) Y710C probably damaging Het
Dsc3 C A 18: 20,104,565 (GRCm39) K587N probably damaging Het
Eif1ad10 T C 12: 88,216,476 (GRCm39) D132G unknown Het
Epcam C A 17: 87,947,354 (GRCm39) T36K possibly damaging Het
Epha2 T C 4: 141,035,716 (GRCm39) W51R probably damaging Het
Eya4 A T 10: 23,031,870 (GRCm39) I251N probably damaging Het
Fbxo21 G A 5: 118,138,394 (GRCm39) V447I possibly damaging Het
Firrm A T 1: 163,814,533 (GRCm39) S137T probably damaging Het
Frg2f1 T A 4: 119,388,155 (GRCm39) T115S possibly damaging Het
Hecw2 A T 1: 53,871,916 (GRCm39) probably benign Het
Igfals G A 17: 25,100,579 (GRCm39) V557I possibly damaging Het
Iqca1 A T 1: 90,017,203 (GRCm39) Y411N probably damaging Het
Itpa T G 2: 130,522,930 (GRCm39) S176A probably damaging Het
Klhl1 A G 14: 96,755,615 (GRCm39) F47L probably benign Het
Krt26 T C 11: 99,225,570 (GRCm39) K304E probably damaging Het
Krt34 T C 11: 99,932,243 (GRCm39) H27R probably benign Het
Mia3 T C 1: 183,138,342 (GRCm39) E791G probably benign Het
Mroh2b A T 15: 4,954,543 (GRCm39) K669* probably null Het
Msmo1 C T 8: 65,175,497 (GRCm39) probably null Het
Muc6 T C 7: 141,226,867 (GRCm39) T1387A probably benign Het
Myo1g C T 11: 6,464,886 (GRCm39) V463I possibly damaging Het
Or12d12 T A 17: 37,610,870 (GRCm39) T148S probably benign Het
Or4f6 T C 2: 111,838,668 (GRCm39) T288A possibly damaging Het
Or5h24 G A 16: 58,919,124 (GRCm39) T77I unknown Het
Or5l13 T A 2: 87,779,874 (GRCm39) R234S probably damaging Het
Pfas T C 11: 68,891,089 (GRCm39) T310A probably damaging Het
Phb2 G A 6: 124,693,394 (GRCm39) probably null Het
Plin3 A G 17: 56,591,181 (GRCm39) S200P probably damaging Het
Plxna1 C A 6: 89,309,674 (GRCm39) E1087* probably null Het
Rnf17 G T 14: 56,712,870 (GRCm39) R779L possibly damaging Het
Sacs C T 14: 61,385,517 (GRCm39) T6M probably benign Het
Scfd1 A G 12: 51,438,979 (GRCm39) Y147C probably damaging Het
Septin1 T C 7: 126,814,447 (GRCm39) probably benign Het
Septin5 A G 16: 18,441,723 (GRCm39) L344P probably damaging Het
Sgsh A G 11: 119,241,773 (GRCm39) L111P probably damaging Het
Slc35f1 A G 10: 52,898,006 (GRCm39) D139G possibly damaging Het
Sod3 A G 5: 52,525,631 (GRCm39) Y110C probably damaging Het
Stk35 T C 2: 129,652,495 (GRCm39) V332A possibly damaging Het
Tacc2 C T 7: 130,224,152 (GRCm39) T279M probably benign Het
Tdo2 T C 3: 81,875,393 (GRCm39) E187G probably benign Het
Tmem150b A T 7: 4,727,360 (GRCm39) Y48* probably null Het
Usp34 C T 11: 23,439,033 (GRCm39) P3532S possibly damaging Het
Vmn2r60 C T 7: 41,785,878 (GRCm39) S227L probably benign Het
Vps33a C T 5: 123,669,255 (GRCm39) V549I probably benign Het
Zfp788 T A 7: 41,298,868 (GRCm39) Y449* probably null Het
Other mutations in Pde10a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01534:Pde10a APN 17 9,163,802 (GRCm39) missense probably damaging 1.00
IGL01762:Pde10a APN 17 9,161,750 (GRCm39) missense possibly damaging 0.74
IGL01814:Pde10a APN 17 9,147,939 (GRCm39) start codon destroyed probably null 0.00
IGL02053:Pde10a APN 17 9,193,601 (GRCm39) missense probably damaging 1.00
IGL02386:Pde10a APN 17 9,172,636 (GRCm39) missense possibly damaging 0.93
IGL02573:Pde10a APN 17 9,180,722 (GRCm39) missense probably benign 0.38
IGL02583:Pde10a APN 17 9,200,462 (GRCm39) missense probably benign 0.23
IGL02649:Pde10a APN 17 9,172,604 (GRCm39) missense probably damaging 1.00
IGL02992:Pde10a APN 17 9,168,293 (GRCm39) missense probably damaging 0.97
IGL03109:Pde10a APN 17 9,148,046 (GRCm39) critical splice donor site probably null
brautigam UTSW 17 9,183,509 (GRCm39) missense possibly damaging 0.78
Bride UTSW 17 9,168,262 (GRCm39) missense possibly damaging 0.60
buzzed UTSW 17 9,149,369 (GRCm39) missense probably damaging 1.00
Gracile UTSW 17 9,180,752 (GRCm39) missense possibly damaging 0.63
Nubile UTSW 17 9,186,294 (GRCm39) missense probably damaging 1.00
thunderball UTSW 17 9,188,421 (GRCm39) missense probably damaging 1.00
R0004:Pde10a UTSW 17 9,200,408 (GRCm39) missense probably benign 0.00
R0015:Pde10a UTSW 17 9,196,029 (GRCm39) missense probably damaging 1.00
R0015:Pde10a UTSW 17 9,196,029 (GRCm39) missense probably damaging 1.00
R0650:Pde10a UTSW 17 9,161,797 (GRCm39) missense probably damaging 1.00
R1173:Pde10a UTSW 17 9,139,378 (GRCm39) splice site probably benign
R1386:Pde10a UTSW 17 9,172,574 (GRCm39) missense probably damaging 1.00
R1458:Pde10a UTSW 17 9,183,540 (GRCm39) missense probably damaging 0.98
R1598:Pde10a UTSW 17 9,147,976 (GRCm39) missense probably damaging 1.00
R1661:Pde10a UTSW 17 9,117,702 (GRCm39) missense probably damaging 1.00
R1665:Pde10a UTSW 17 9,117,702 (GRCm39) missense probably damaging 1.00
R1883:Pde10a UTSW 17 9,197,776 (GRCm39) missense possibly damaging 0.86
R1960:Pde10a UTSW 17 9,161,750 (GRCm39) missense possibly damaging 0.74
R2005:Pde10a UTSW 17 9,147,923 (GRCm39) critical splice acceptor site probably null
R2071:Pde10a UTSW 17 9,180,827 (GRCm39) missense probably benign 0.22
R2121:Pde10a UTSW 17 9,196,047 (GRCm39) missense probably damaging 1.00
R2376:Pde10a UTSW 17 9,149,369 (GRCm39) missense probably damaging 1.00
R3721:Pde10a UTSW 17 9,188,421 (GRCm39) missense probably damaging 1.00
R4627:Pde10a UTSW 17 9,200,484 (GRCm39) missense probably damaging 1.00
R4652:Pde10a UTSW 17 8,975,885 (GRCm39) missense possibly damaging 0.82
R5107:Pde10a UTSW 17 9,163,802 (GRCm39) missense probably damaging 1.00
R5184:Pde10a UTSW 17 9,195,987 (GRCm39) missense probably damaging 1.00
R5354:Pde10a UTSW 17 9,180,812 (GRCm39) missense probably damaging 0.97
R5735:Pde10a UTSW 17 9,160,024 (GRCm39) missense probably damaging 0.99
R5878:Pde10a UTSW 17 9,168,204 (GRCm39) missense possibly damaging 0.85
R5921:Pde10a UTSW 17 9,149,369 (GRCm39) missense probably damaging 1.00
R6027:Pde10a UTSW 17 9,183,509 (GRCm39) missense possibly damaging 0.78
R6145:Pde10a UTSW 17 9,147,949 (GRCm39) missense probably damaging 1.00
R6279:Pde10a UTSW 17 9,197,789 (GRCm39) missense probably damaging 0.99
R6409:Pde10a UTSW 17 9,168,270 (GRCm39) missense probably damaging 1.00
R6870:Pde10a UTSW 17 9,186,356 (GRCm39) missense possibly damaging 0.56
R6947:Pde10a UTSW 17 9,188,424 (GRCm39) missense probably damaging 1.00
R7072:Pde10a UTSW 17 9,161,858 (GRCm39) missense probably benign 0.40
R7084:Pde10a UTSW 17 9,159,994 (GRCm39) missense probably benign 0.25
R7294:Pde10a UTSW 17 8,975,853 (GRCm39) missense probably benign
R7339:Pde10a UTSW 17 8,975,860 (GRCm39) missense probably benign 0.01
R7347:Pde10a UTSW 17 9,186,294 (GRCm39) missense probably damaging 1.00
R7373:Pde10a UTSW 17 9,161,824 (GRCm39) missense probably benign 0.00
R7481:Pde10a UTSW 17 9,168,262 (GRCm39) missense possibly damaging 0.60
R7833:Pde10a UTSW 17 9,180,752 (GRCm39) missense possibly damaging 0.63
R7923:Pde10a UTSW 17 9,147,964 (GRCm39) missense probably benign 0.40
R8053:Pde10a UTSW 17 9,193,604 (GRCm39) missense probably benign 0.12
R8137:Pde10a UTSW 17 9,193,647 (GRCm39) missense possibly damaging 0.90
R8722:Pde10a UTSW 17 9,163,772 (GRCm39) missense probably benign 0.01
R8918:Pde10a UTSW 17 9,160,063 (GRCm39) missense possibly damaging 0.65
R8973:Pde10a UTSW 17 9,143,071 (GRCm39) missense probably benign
R9113:Pde10a UTSW 17 9,197,782 (GRCm39) missense probably benign
R9163:Pde10a UTSW 17 9,181,791 (GRCm39) missense possibly damaging 0.89
R9275:Pde10a UTSW 17 9,200,488 (GRCm39) makesense probably null
R9563:Pde10a UTSW 17 9,020,710 (GRCm39) missense unknown
R9641:Pde10a UTSW 17 9,197,816 (GRCm39) missense
R9660:Pde10a UTSW 17 9,170,370 (GRCm39) missense probably damaging 0.99
R9670:Pde10a UTSW 17 9,020,272 (GRCm39) missense unknown
Predicted Primers
Posted On 2017-04-14