Incidental Mutation 'R7347:Pde10a'
ID 570312
Institutional Source Beutler Lab
Gene Symbol Pde10a
Ensembl Gene ENSMUSG00000023868
Gene Name phosphodiesterase 10A
Synonyms
MMRRC Submission 045374-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R7347 (G1)
Quality Score 225.009
Status Validated
Chromosome 17
Chromosomal Location 8525372-8986648 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) A to G at 8967462 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Histidine to Arginine at position 567 (H567R)
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 probably damaging
Transcript: ENSMUST00000024647
AA Change: H487R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000024647
Gene: ENSMUSG00000023868
AA Change: H487R

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 damaging
Transcript: ENSMUST00000089085
AA Change: H567R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000086485
Gene: ENSMUSG00000023868
AA Change: H567R

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 damaging
Transcript: ENSMUST00000115708
AA Change: H283R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000111373
Gene: ENSMUSG00000023868
AA Change: H283R

DomainStartEndE-ValueType
GAF 3 148 5.22e-23 SMART
HDc 238 404 9.04e-7 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000115715
AA Change: H487R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000111380
Gene: ENSMUSG00000023868
AA Change: H487R

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: H550R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000111385
Gene: ENSMUSG00000023868
AA Change: H550R

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 probably damaging
Transcript: ENSMUST00000115724
AA Change: H621R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000111389
Gene: ENSMUSG00000023868
AA Change: H621R

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 probably damaging
Transcript: ENSMUST00000149440
AA Change: H498R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000123216
Gene: ENSMUSG00000023868
AA Change: H498R

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: H849R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Meta Mutation Damage Score 0.9335 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.0%
Validation Efficiency 100% (80/80)
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: 82 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1300017J02Rik T A 9: 103,282,646 (GRCm38) E22V possibly damaging Het
4930564D02Rik G T 3: 105,078,412 (GRCm38) R47S unknown Het
4931408C20Rik A T 1: 26,684,467 (GRCm38) L544Q probably benign Het
Abtb2 T G 2: 103,567,412 (GRCm38) I229S probably damaging Het
Adgre1 T C 17: 57,420,441 (GRCm38) L457P probably damaging Het
Amer3 C A 1: 34,587,902 (GRCm38) D407E probably damaging Het
Arhgap20 T C 9: 51,849,035 (GRCm38) S729P probably benign Het
Asap2 T G 12: 21,229,457 (GRCm38) I418S probably benign Het
Atp5j2 T C 5: 145,188,485 (GRCm38) probably null Het
Brinp3 T A 1: 146,902,086 (GRCm38) V757E probably benign Het
Brip1 C T 11: 86,139,103 (GRCm38) G572R probably benign Het
C3 C A 17: 57,223,215 (GRCm38) R462L probably benign Het
Cat T A 2: 103,463,298 (GRCm38) H395L probably benign Het
Cela3a T C 4: 137,402,606 (GRCm38) N235D possibly damaging Het
Cep89 G A 7: 35,429,928 (GRCm38) R630H probably damaging Het
Cntnap1 G T 11: 101,185,268 (GRCm38) G993W probably damaging Het
Col9a1 A G 1: 24,179,403 (GRCm38) probably null Het
Coro2b G T 9: 62,489,372 (GRCm38) H29N probably benign Het
Dll3 C T 7: 28,299,111 (GRCm38) R143H probably damaging Het
Dsel C T 1: 111,861,573 (GRCm38) G411S probably damaging Het
Dync1i1 T A 6: 5,784,530 (GRCm38) *114R probably null Het
Ecm2 T C 13: 49,515,078 (GRCm38) S86P probably damaging Het
Eif5 T C 12: 111,540,290 (GRCm38) probably benign Het
Ets1 T A 9: 32,733,032 (GRCm38) probably null Het
Exph5 A G 9: 53,375,896 (GRCm38) N1426D possibly damaging Het
Eya2 T C 2: 165,687,666 (GRCm38) F110L probably benign Het
Flt1 T A 5: 147,580,381 (GRCm38) E1032V probably damaging Het
Galnt5 A T 2: 58,017,193 (GRCm38) H556L probably benign Het
Glb1l3 A T 9: 26,829,003 (GRCm38) Y344N probably benign Het
Glrx3 C A 7: 137,459,286 (GRCm38) D216E possibly damaging Het
Gm45871 T A 18: 90,591,375 (GRCm38) C246S probably damaging Het
Gm8251 G T 1: 44,059,496 (GRCm38) P814Q probably damaging Het
Gm906 T C 13: 50,245,744 (GRCm38) I849V probably benign Het
Gstm4 A G 3: 108,042,373 (GRCm38) L137P probably benign Het
Hsd17b13 T C 5: 103,968,750 (GRCm38) T169A probably damaging Het
Hydin A C 8: 110,600,362 (GRCm38) T4778P probably benign Het
Ifna15 A G 4: 88,557,983 (GRCm38) L88P probably damaging Het
Kcnab1 G A 3: 65,376,531 (GRCm38) R390H probably benign Het
Kng1 C A 16: 23,067,787 (GRCm38) H161N possibly damaging Het
Lamp5 T C 2: 136,060,958 (GRCm38) V199A probably benign Het
Lrig3 G A 10: 126,009,966 (GRCm38) V755M probably damaging Het
Mad1l1 C T 5: 140,144,044 (GRCm38) R412H probably damaging Het
March6 C A 15: 31,486,359 (GRCm38) C350F probably benign Het
Mastl A G 2: 23,133,389 (GRCm38) S441P probably damaging Het
Mfsd13b A T 7: 120,991,728 (GRCm38) M231L probably benign Het
Micalcl T C 7: 112,382,151 (GRCm38) V444A probably benign Het
Ms4a6d G A 19: 11,590,073 (GRCm38) Q155* probably null Het
Myo15 A G 11: 60,477,961 (GRCm38) M516V probably benign Het
Myo1b A T 1: 51,751,254 (GRCm38) F1110L probably damaging Het
Nbr1 T A 11: 101,569,321 (GRCm38) L381* probably null Het
Nln T C 13: 104,050,847 (GRCm38) K325E probably damaging Het
Nr4a3 T G 4: 48,051,290 (GRCm38) S15A possibly damaging Het
Nrp2 C T 1: 62,745,504 (GRCm38) P271S probably benign Het
Obox6 A C 7: 15,834,646 (GRCm38) L102V possibly damaging Het
Olfr1008 T C 2: 85,689,837 (GRCm38) M136T probably damaging Het
Olfr1208 T C 2: 88,897,271 (GRCm38) I109V possibly damaging Het
Olfr1241 T C 2: 89,482,455 (GRCm38) S227G probably benign Het
Olfr853 A G 9: 19,537,099 (GRCm38) M277T probably damaging Het
Pdgfra C T 5: 75,183,098 (GRCm38) S760L possibly damaging Het
Pid1 T A 1: 84,159,129 (GRCm38) I94L unknown Het
Plekhn1 T C 4: 156,222,671 (GRCm38) H474R probably benign Het
Prcc A T 3: 87,869,681 (GRCm38) S329T possibly damaging Het
Pros1 G T 16: 62,919,523 (GRCm38) R445L probably damaging Het
Pxdn C A 12: 30,012,261 (GRCm38) H1370Q probably benign Het
Sgce T A 6: 4,694,106 (GRCm38) R283S probably damaging Het
Slc25a20 T G 9: 108,682,458 (GRCm38) probably null Het
Slc6a1 T C 6: 114,311,818 (GRCm38) V446A probably damaging Het
Slc6a4 C G 11: 77,017,085 (GRCm38) Y358* probably null Het
Sned1 A C 1: 93,281,736 (GRCm38) E857A probably damaging Het
Spdye4b C T 5: 143,202,390 (GRCm38) R213C possibly damaging Het
Spry2 T G 14: 105,893,512 (GRCm38) E80A probably damaging Het
Stard9 G A 2: 120,666,534 (GRCm38) C142Y probably benign Het
Sync A T 4: 129,294,306 (GRCm38) Q377L probably benign Het
Tdrd12 A G 7: 35,485,692 (GRCm38) C718R Het
Tgoln1 G C 6: 72,616,278 (GRCm38) T73R probably benign Het
Tmbim1 T C 1: 74,291,279 (GRCm38) E185G probably benign Het
Tyk2 T C 9: 21,108,034 (GRCm38) M1031V probably damaging Het
Vmn1r71 C T 7: 10,748,501 (GRCm38) V87I not run Het
Vmn2r49 A G 7: 9,986,814 (GRCm38) V250A probably benign Het
Yipf3 A C 17: 46,250,827 (GRCm38) T187P probably damaging Het
Zfp148 G T 16: 33,434,790 (GRCm38) R50L possibly damaging Het
Zfp628 G A 7: 4,921,818 (GRCm38) G1013E probably damaging Het
Other mutations in Pde10a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01534:Pde10a APN 17 8,944,970 (GRCm38) missense probably damaging 1.00
IGL01762:Pde10a APN 17 8,942,918 (GRCm38) missense possibly damaging 0.74
IGL01814:Pde10a APN 17 8,929,107 (GRCm38) start codon destroyed probably null 0.00
IGL02053:Pde10a APN 17 8,974,769 (GRCm38) missense probably damaging 1.00
IGL02386:Pde10a APN 17 8,953,804 (GRCm38) missense possibly damaging 0.93
IGL02573:Pde10a APN 17 8,961,890 (GRCm38) missense probably benign 0.38
IGL02583:Pde10a APN 17 8,981,630 (GRCm38) missense probably benign 0.23
IGL02649:Pde10a APN 17 8,953,772 (GRCm38) missense probably damaging 1.00
IGL02992:Pde10a APN 17 8,949,461 (GRCm38) missense probably damaging 0.97
IGL03109:Pde10a APN 17 8,929,214 (GRCm38) critical splice donor site probably null
brautigam UTSW 17 8,964,677 (GRCm38) missense possibly damaging 0.78
Bride UTSW 17 8,949,430 (GRCm38) missense possibly damaging 0.60
buzzed UTSW 17 8,930,537 (GRCm38) missense probably damaging 1.00
Gracile UTSW 17 8,961,920 (GRCm38) missense possibly damaging 0.63
Nubile UTSW 17 8,967,462 (GRCm38) missense probably damaging 1.00
thunderball UTSW 17 8,969,589 (GRCm38) missense probably damaging 1.00
R0004:Pde10a UTSW 17 8,981,576 (GRCm38) missense probably benign 0.00
R0015:Pde10a UTSW 17 8,977,197 (GRCm38) missense probably damaging 1.00
R0015:Pde10a UTSW 17 8,977,197 (GRCm38) missense probably damaging 1.00
R0650:Pde10a UTSW 17 8,942,965 (GRCm38) missense probably damaging 1.00
R1173:Pde10a UTSW 17 8,920,546 (GRCm38) splice site probably benign
R1386:Pde10a UTSW 17 8,953,742 (GRCm38) missense probably damaging 1.00
R1458:Pde10a UTSW 17 8,964,708 (GRCm38) missense probably damaging 0.98
R1598:Pde10a UTSW 17 8,929,144 (GRCm38) missense probably damaging 1.00
R1661:Pde10a UTSW 17 8,898,870 (GRCm38) missense probably damaging 1.00
R1665:Pde10a UTSW 17 8,898,870 (GRCm38) missense probably damaging 1.00
R1883:Pde10a UTSW 17 8,978,944 (GRCm38) missense possibly damaging 0.86
R1960:Pde10a UTSW 17 8,942,918 (GRCm38) missense possibly damaging 0.74
R2005:Pde10a UTSW 17 8,929,091 (GRCm38) critical splice acceptor site probably null
R2071:Pde10a UTSW 17 8,961,995 (GRCm38) missense probably benign 0.22
R2121:Pde10a UTSW 17 8,977,215 (GRCm38) missense probably damaging 1.00
R2376:Pde10a UTSW 17 8,930,537 (GRCm38) missense probably damaging 1.00
R3721:Pde10a UTSW 17 8,969,589 (GRCm38) missense probably damaging 1.00
R3872:Pde10a UTSW 17 8,757,091 (GRCm38) missense possibly damaging 0.92
R4627:Pde10a UTSW 17 8,981,652 (GRCm38) missense probably damaging 1.00
R4652:Pde10a UTSW 17 8,757,053 (GRCm38) missense possibly damaging 0.82
R5107:Pde10a UTSW 17 8,944,970 (GRCm38) missense probably damaging 1.00
R5184:Pde10a UTSW 17 8,977,155 (GRCm38) missense probably damaging 1.00
R5354:Pde10a UTSW 17 8,961,980 (GRCm38) missense probably damaging 0.97
R5735:Pde10a UTSW 17 8,941,192 (GRCm38) missense probably damaging 0.99
R5878:Pde10a UTSW 17 8,949,372 (GRCm38) missense possibly damaging 0.85
R5921:Pde10a UTSW 17 8,930,537 (GRCm38) missense probably damaging 1.00
R6027:Pde10a UTSW 17 8,964,677 (GRCm38) missense possibly damaging 0.78
R6145:Pde10a UTSW 17 8,929,117 (GRCm38) missense probably damaging 1.00
R6279:Pde10a UTSW 17 8,978,957 (GRCm38) missense probably damaging 0.99
R6409:Pde10a UTSW 17 8,949,438 (GRCm38) missense probably damaging 1.00
R6870:Pde10a UTSW 17 8,967,524 (GRCm38) missense possibly damaging 0.56
R6947:Pde10a UTSW 17 8,969,592 (GRCm38) missense probably damaging 1.00
R7072:Pde10a UTSW 17 8,943,026 (GRCm38) missense probably benign 0.40
R7084:Pde10a UTSW 17 8,941,162 (GRCm38) missense probably benign 0.25
R7294:Pde10a UTSW 17 8,757,021 (GRCm38) missense probably benign
R7339:Pde10a UTSW 17 8,757,028 (GRCm38) missense probably benign 0.01
R7373:Pde10a UTSW 17 8,942,992 (GRCm38) missense probably benign 0.00
R7481:Pde10a UTSW 17 8,949,430 (GRCm38) missense possibly damaging 0.60
R7833:Pde10a UTSW 17 8,961,920 (GRCm38) missense possibly damaging 0.63
R7923:Pde10a UTSW 17 8,929,132 (GRCm38) missense probably benign 0.40
R8053:Pde10a UTSW 17 8,974,772 (GRCm38) missense probably benign 0.12
R8137:Pde10a UTSW 17 8,974,815 (GRCm38) missense possibly damaging 0.90
R8722:Pde10a UTSW 17 8,944,940 (GRCm38) missense probably benign 0.01
R8918:Pde10a UTSW 17 8,941,231 (GRCm38) missense possibly damaging 0.65
R8973:Pde10a UTSW 17 8,924,239 (GRCm38) missense probably benign
R9113:Pde10a UTSW 17 8,978,950 (GRCm38) missense probably benign
R9163:Pde10a UTSW 17 8,962,959 (GRCm38) missense possibly damaging 0.89
R9275:Pde10a UTSW 17 8,981,656 (GRCm38) makesense probably null
R9563:Pde10a UTSW 17 8,801,878 (GRCm38) missense unknown
R9641:Pde10a UTSW 17 8,978,984 (GRCm38) missense
R9660:Pde10a UTSW 17 8,951,538 (GRCm38) missense probably damaging 0.99
R9670:Pde10a UTSW 17 8,801,440 (GRCm38) missense unknown
Predicted Primers PCR Primer
(F):5'- GAGCTGCCCACTGTATGAAC -3'
(R):5'- GTAGCACCCCATAGGAATCTTCTC -3'

Sequencing Primer
(F):5'- TGTAAGCTGTGAGTCTCC -3'
(R):5'- ATAGGAATCTTCTCCAGCCAGGG -3'
Posted On 2019-09-13