Incidental Mutation 'R7072:Pde10a'
ID 548993
Institutional Source Beutler Lab
Gene Symbol Pde10a
Ensembl Gene ENSMUSG00000023868
Gene Name phosphodiesterase 10A
Synonyms
MMRRC Submission 045168-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R7072 (G1)
Quality Score 225.009
Status Validated
Chromosome 17
Chromosomal Location 8744204-9205480 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 9161858 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 231 (E231G)
Ref Sequence ENSEMBL: ENSMUSP00000086485 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000024647] [ENSMUST00000089085] [ENSMUST00000115708] [ENSMUST00000115715] [ENSMUST00000115717] [ENSMUST00000115720] [ENSMUST00000115724] [ENSMUST00000149440] [ENSMUST00000231430]
AlphaFold no structure available at present
Predicted Effect possibly damaging
Transcript: ENSMUST00000024647
AA Change: E151G

PolyPhen 2 Score 0.785 (Sensitivity: 0.85; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000024647
Gene: ENSMUSG00000023868
AA Change: E151G

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 probably benign
Transcript: ENSMUST00000089085
AA Change: E231G

PolyPhen 2 Score 0.403 (Sensitivity: 0.89; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000086485
Gene: ENSMUSG00000023868
AA Change: E231G

DomainStartEndE-ValueType
GAF 101 254 1.44e-3 SMART
GAF 276 432 6.56e-29 SMART
HDc 522 688 9.04e-7 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000115708
SMART Domains Protein: ENSMUSP00000111373
Gene: ENSMUSG00000023868

DomainStartEndE-ValueType
GAF 3 148 5.22e-23 SMART
HDc 238 404 9.04e-7 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000115715
AA Change: E151G

PolyPhen 2 Score 0.785 (Sensitivity: 0.85; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000111380
Gene: ENSMUSG00000023868
AA Change: E151G

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 probably benign
Transcript: ENSMUST00000115717
Predicted Effect probably damaging
Transcript: ENSMUST00000115720
AA Change: E214G

PolyPhen 2 Score 0.964 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000111385
Gene: ENSMUSG00000023868
AA Change: E214G

DomainStartEndE-ValueType
GAF 84 237 1.44e-3 SMART
GAF 259 415 6.56e-29 SMART
HDc 505 671 9.04e-7 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000115724
AA Change: E285G

PolyPhen 2 Score 0.845 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000111389
Gene: ENSMUSG00000023868
AA Change: E285G

DomainStartEndE-ValueType
GAF 95 248 1.44e-3 SMART
GAF 270 426 6.56e-29 SMART
HDc 516 682 9.04e-7 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000149440
AA Change: E162G

PolyPhen 2 Score 0.938 (Sensitivity: 0.80; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000123216
Gene: ENSMUSG00000023868
AA Change: E162G

DomainStartEndE-ValueType
GAF 32 185 1.44e-3 SMART
GAF 207 363 6.56e-29 SMART
HDc 453 619 9.04e-7 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000231430
AA Change: E513G

PolyPhen 2 Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.1%
Validation Efficiency 100% (73/73)
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: 75 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca4 T A 3: 121,967,592 (GRCm39) L2214Q probably damaging Het
Acbd3 T C 1: 180,553,934 (GRCm39) F90L probably benign Het
Ahnak2 T A 12: 112,751,786 (GRCm39) Q23L Het
Anpep A T 7: 79,485,127 (GRCm39) L620I possibly damaging Het
Bpi T C 2: 158,113,998 (GRCm39) S299P probably damaging Het
Bpifa2 A G 2: 153,853,293 (GRCm39) D132G probably damaging Het
Brd7 T A 8: 89,073,615 (GRCm39) E258D probably benign Het
Btc T C 5: 91,550,796 (GRCm39) probably benign Het
Cacna1c A G 6: 118,573,067 (GRCm39) V2039A Het
Calm4 T A 13: 3,888,275 (GRCm39) V127E probably benign Het
Casp8ap2 T A 4: 32,644,766 (GRCm39) S1280T probably damaging Het
Cc2d2b T C 19: 40,748,803 (GRCm39) V80A unknown Het
Ccdc33 A G 9: 58,019,267 (GRCm39) *279R probably null Het
Cercam T A 2: 29,771,936 (GRCm39) H585Q probably benign Het
Cnnm1 A G 19: 43,429,296 (GRCm39) D138G probably benign Het
Cox4i2 T C 2: 152,602,573 (GRCm39) F89S probably damaging Het
Crb1 G A 1: 139,165,013 (GRCm39) T1098I probably damaging Het
Csnk1e C T 15: 79,322,967 (GRCm39) probably null Het
Ctsj C A 13: 61,150,897 (GRCm39) E187* probably null Het
Dagla A T 19: 10,233,659 (GRCm39) probably null Het
Dnah7a G A 1: 53,458,912 (GRCm39) T3742I probably benign Het
Dnajc6 A C 4: 101,472,812 (GRCm39) H381P probably damaging Het
Dyrk3 A T 1: 131,057,465 (GRCm39) L236Q probably damaging Het
Edc4 T A 8: 106,614,634 (GRCm39) D105E probably damaging Het
Frmd5 A T 2: 121,388,351 (GRCm39) L241Q probably damaging Het
Gcc2 A G 10: 58,106,749 (GRCm39) T662A probably benign Het
Gins1 C T 2: 150,751,671 (GRCm39) probably null Het
Gli3 T A 13: 15,900,280 (GRCm39) N1222K possibly damaging Het
Gm4302 G T 10: 100,177,521 (GRCm39) Q268H unknown Het
Grin2d A T 7: 45,506,922 (GRCm39) W518R probably damaging Het
Grm5 A T 7: 87,723,512 (GRCm39) I601F probably damaging Het
Gtpbp10 A T 5: 5,596,365 (GRCm39) N193K probably benign Het
Igdcc4 T G 9: 65,038,013 (GRCm39) V798G probably damaging Het
Igkv8-19 A T 6: 70,318,396 (GRCm39) F13I probably benign Het
Kctd11 T A 11: 69,770,621 (GRCm39) N139I probably benign Het
Lmo7 G A 14: 102,136,136 (GRCm39) probably null Het
Lrrk2 A T 15: 91,686,123 (GRCm39) M2155L probably benign Het
Ly6g6g C T 15: 74,644,119 (GRCm39) V66M Het
Mettl24 A C 10: 40,559,509 (GRCm39) H53P probably benign Het
Mier2 A G 10: 79,376,133 (GRCm39) M264T unknown Het
Mplkip T C 13: 17,870,122 (GRCm39) I18T unknown Het
Mtmr2 T C 9: 13,699,916 (GRCm39) V101A probably benign Het
Nbeal2 G T 9: 110,455,119 (GRCm39) T2593K probably benign Het
Neu3 A T 7: 99,463,404 (GRCm39) C106* probably null Het
Nutm1 T C 2: 112,082,192 (GRCm39) T295A probably benign Het
Or2h2b-ps1 A G 17: 37,481,269 (GRCm39) I90T probably benign Het
Pcdhga7 G T 18: 37,850,329 (GRCm39) V779L probably benign Het
Pira1 C G 7: 3,740,319 (GRCm39) A301P probably damaging Het
Plcg2 T A 8: 118,316,574 (GRCm39) probably null Het
Pofut2 T C 10: 77,095,263 (GRCm39) L36P probably benign Het
Pou6f2 T C 13: 18,299,754 (GRCm39) N635S Het
Pramel14 A C 4: 143,720,698 (GRCm39) I81R probably damaging Het
Ptpra T C 2: 130,395,350 (GRCm39) Y818H probably damaging Het
Rad18 T C 6: 112,658,401 (GRCm39) E168G probably benign Het
Rev1 C A 1: 38,106,626 (GRCm39) E634* probably null Het
Sec24d A G 3: 123,124,000 (GRCm39) D403G probably damaging Het
Sema5a C A 15: 32,575,105 (GRCm39) H404Q possibly damaging Het
Shank1 A G 7: 43,994,370 (GRCm39) S844G unknown Het
Slc32a1 T A 2: 158,453,416 (GRCm39) Y85* probably null Het
Slc39a4 T C 15: 76,497,458 (GRCm39) T485A probably damaging Het
Sp5 A C 2: 70,307,074 (GRCm39) Q253P probably benign Het
Sspo A T 6: 48,431,913 (GRCm39) D709V probably damaging Het
Sucnr1 A G 3: 59,993,604 (GRCm39) Y44C probably damaging Het
Taar8b A G 10: 23,967,876 (GRCm39) L106P possibly damaging Het
Tbc1d9 A G 8: 83,991,494 (GRCm39) D922G probably damaging Het
Tbx6 A T 7: 126,383,912 (GRCm39) D322V probably benign Het
Tex15 T A 8: 34,065,459 (GRCm39) S1630T possibly damaging Het
Ube2o G A 11: 116,432,327 (GRCm39) P880S probably benign Het
Uck1 C T 2: 32,148,178 (GRCm39) R182Q probably damaging Het
Utrn T A 10: 12,340,957 (GRCm39) H2840L probably damaging Het
Vps8 A G 16: 21,400,329 (GRCm39) T1266A probably benign Het
Wnk1 A T 6: 119,914,822 (GRCm39) I1909N unknown Het
Zfp352 C T 4: 90,112,661 (GRCm39) T267I probably benign Het
Zfp773 A T 7: 7,135,874 (GRCm39) C241S probably benign Het
Zfp934 T C 13: 62,668,339 (GRCm39) D8G probably damaging 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
R3872:Pde10a UTSW 17 8,975,923 (GRCm39) missense possibly damaging 0.92
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
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 PCR Primer
(F):5'- TGACACTGGCATCCACTGAG -3'
(R):5'- ACAGCTGCTCAAGAGAACAG -3'

Sequencing Primer
(F):5'- CTGGCATCCACTGAGTATGCATG -3'
(R):5'- GCTGCTCAAGAGAACAGGTTTTTAAG -3'
Posted On 2019-05-15