Incidental Mutation 'R4627:Pde10a'
ID 348912
Institutional Source Beutler Lab
Gene Symbol Pde10a
Ensembl Gene ENSMUSG00000023868
Gene Name phosphodiesterase 10A
Synonyms
MMRRC Submission 041892-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R4627 (G1)
Quality Score 225
Status Not validated
Chromosome 17
Chromosomal Location 8744204-9205480 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to C at 9200484 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Alanine at position 779 (D779A)
Ref Sequence ENSEMBL: ENSMUSP00000111385 (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: D716A

PolyPhen 2 Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000024647
Gene: ENSMUSG00000023868
AA Change: D716A

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: ENSMUST00000089085
AA Change: D796A

PolyPhen 2 Score 0.889 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000086485
Gene: ENSMUSG00000023868
AA Change: D796A

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: D512A

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000111373
Gene: ENSMUSG00000023868
AA Change: D512A

DomainStartEndE-ValueType
GAF 3 148 5.22e-23 SMART
HDc 238 404 9.04e-7 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000115715
AA Change: D716A

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000111380
Gene: ENSMUSG00000023868
AA Change: D716A

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: D779A

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000111385
Gene: ENSMUSG00000023868
AA Change: D779A

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: D850A

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000111389
Gene: ENSMUSG00000023868
AA Change: D850A

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: D727A

PolyPhen 2 Score 0.977 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000123216
Gene: ENSMUSG00000023868
AA Change: D727A

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: D1078A

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.3%
  • 20x: 95.4%
Validation Efficiency
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: 92 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam6a A T 12: 113,508,569 (GRCm39) D314V probably benign Het
Adamts18 C T 8: 114,499,800 (GRCm39) W371* probably null Het
Adamtsl2 T A 2: 26,983,597 (GRCm39) L331Q probably damaging Het
Akr1c13 G T 13: 4,247,869 (GRCm39) V214F probably damaging Het
Aldoart1 T C 4: 72,770,680 (GRCm39) T43A probably benign Het
Alkbh2 C T 5: 114,262,287 (GRCm39) E148K probably damaging Het
Ano7 T C 1: 93,302,907 (GRCm39) I15T probably benign Het
Aopep T C 13: 63,215,906 (GRCm39) S393P probably benign Het
Aox3 A T 1: 58,164,194 (GRCm39) T155S probably damaging Het
Ap2a1 C T 7: 44,553,843 (GRCm39) V535M probably damaging Het
Apbb2 C T 5: 66,557,419 (GRCm39) probably null Het
Astn1 C A 1: 158,329,821 (GRCm39) H225Q possibly damaging Het
Atm A G 9: 53,367,806 (GRCm39) I2439T possibly damaging Het
Atp1b2 T A 11: 69,492,160 (GRCm39) I263F probably damaging Het
Ccdc184 A T 15: 98,066,638 (GRCm39) N148Y probably benign Het
Cdca7 TGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGA TGAAGAAGAAGAAGAAGAAGAAGAAGAAGA 2: 72,312,205 (GRCm39) probably benign Het
Cep192 C G 18: 67,945,440 (GRCm39) P180R probably benign Het
Cfap46 T C 7: 139,237,197 (GRCm39) Y571C probably damaging Het
Cfap46 A T 7: 139,260,843 (GRCm39) L85Q probably damaging Het
Chchd6 G A 6: 89,361,642 (GRCm39) L226F probably damaging Het
Cnot6l A G 5: 96,225,070 (GRCm39) V541A probably benign Het
Cobl T C 11: 12,201,093 (GRCm39) E1214G probably damaging Het
Cpsf2 G A 12: 101,956,154 (GRCm39) R319Q probably benign Het
Csdc2 T C 15: 81,833,324 (GRCm39) V107A probably benign Het
Csmd1 A G 8: 16,747,933 (GRCm39) W273R probably benign Het
Dnah2 T A 11: 69,356,202 (GRCm39) N2156I probably damaging Het
Dsp A G 13: 38,352,617 (GRCm39) Y165C probably benign Het
Exoc1 T C 5: 76,690,075 (GRCm39) V205A probably benign Het
Fam98c T C 7: 28,854,693 (GRCm39) T49A possibly damaging Het
Fbln2 G T 6: 91,236,749 (GRCm39) V755L probably damaging Het
Fhad1 A T 4: 141,623,779 (GRCm39) V1371D possibly damaging Het
Folh1 A T 7: 86,422,460 (GRCm39) M59K probably benign Het
Foxf2 A T 13: 31,810,871 (GRCm39) H270L probably benign Het
Gm14401 G A 2: 176,778,109 (GRCm39) R65H probably benign Het
Gpn1 C A 5: 31,655,737 (GRCm39) Y592* probably null Het
Hmcn1 T G 1: 150,471,645 (GRCm39) D4903A probably benign Het
Hnf1a T C 5: 115,093,930 (GRCm39) R220G probably damaging Het
Hoxd10 G A 2: 74,522,636 (GRCm39) A105T probably benign Het
Kcnd3 C T 3: 105,566,082 (GRCm39) A421V probably damaging Het
Kidins220 C T 12: 25,107,041 (GRCm39) T1498I possibly damaging Het
Klhl2 G T 8: 65,211,225 (GRCm39) Y274* probably null Het
Lmbrd1 A G 1: 24,745,080 (GRCm39) Y140C probably damaging Het
Mapk8ip3 G A 17: 25,122,267 (GRCm39) T706I probably benign Het
Mast4 A C 13: 103,470,529 (GRCm39) S58A possibly damaging Het
Mcm6 T C 1: 128,279,285 (GRCm39) D167G probably benign Het
Mmachc A T 4: 116,560,668 (GRCm39) S276T probably damaging Het
Nfat5 A T 8: 108,095,908 (GRCm39) Q1289L probably damaging Het
Nlrc4 G T 17: 74,753,623 (GRCm39) F253L probably damaging Het
Nr1i3 C A 1: 171,044,014 (GRCm39) A112E probably benign Het
Or10ac1 T A 6: 42,515,375 (GRCm39) T194S possibly damaging Het
Or13a17 T A 7: 140,271,291 (GRCm39) S158T probably benign Het
Or2b28 T C 13: 21,531,634 (GRCm39) F179L probably damaging Het
Or7g33 G T 9: 19,448,969 (GRCm39) Q86K possibly damaging Het
Orc5 G T 5: 22,753,003 (GRCm39) F10L probably benign Het
Pde4b T C 4: 102,458,802 (GRCm39) L486S probably damaging Het
Pex2 A T 3: 5,626,341 (GRCm39) I156N probably damaging Het
Phtf2 C T 5: 20,978,738 (GRCm39) R63Q probably damaging Het
Prag1 A G 8: 36,570,446 (GRCm39) Y343C probably damaging Het
Prdm16 A T 4: 154,451,697 (GRCm39) Y170N probably damaging Het
Prpf6 A C 2: 181,243,267 (GRCm39) K5T probably damaging Het
Ptpn1 A G 2: 167,809,701 (GRCm39) K103R probably benign Het
Ralgapa2 A G 2: 146,203,373 (GRCm39) S1159P possibly damaging Het
Rapgef3 G T 15: 97,656,810 (GRCm39) D318E probably damaging Het
Ripk4 A T 16: 97,545,226 (GRCm39) S474T probably damaging Het
Rmi1 A G 13: 58,556,950 (GRCm39) R400G probably benign Het
Sec16a A G 2: 26,319,405 (GRCm39) V1491A probably damaging Het
Sec16a C T 2: 26,321,080 (GRCm39) probably null Het
Setd7 G T 3: 51,450,086 (GRCm39) N113K probably damaging Het
Shank2 C T 7: 143,965,161 (GRCm39) T1502M probably damaging Het
Skor1 A T 9: 63,052,758 (GRCm39) C376S probably damaging Het
Slc12a3 A T 8: 95,056,012 (GRCm39) L49F probably benign Het
Slc35d3 C T 10: 19,725,077 (GRCm39) V260M probably damaging Het
Slc46a1 T A 11: 78,357,715 (GRCm39) V256E probably benign Het
Slc6a1 T C 6: 114,285,067 (GRCm39) S127P probably benign Het
Syngr4 A G 7: 45,536,452 (GRCm39) L190P probably damaging Het
Tagap G A 17: 8,145,773 (GRCm39) probably null Het
Tamm41 A T 6: 115,011,963 (GRCm39) N89K probably benign Het
Tbc1d31 T A 15: 57,831,308 (GRCm39) M922K probably benign Het
Tbk1 T C 10: 121,403,985 (GRCm39) N254S possibly damaging Het
Tfec A G 6: 16,840,478 (GRCm39) S140P probably damaging Het
Tnrc18 T C 5: 142,725,883 (GRCm39) E1802G unknown Het
Tom1l2 C T 11: 60,133,533 (GRCm39) probably null Het
Tonsl T G 15: 76,521,424 (GRCm39) K323Q probably damaging Het
Tsnaxip1 A T 8: 106,568,039 (GRCm39) E268D probably damaging Het
Ttf1 C A 2: 28,955,172 (GRCm39) H179N possibly damaging Het
Ttn T C 2: 76,556,517 (GRCm39) S30163G probably damaging Het
Ube2c A G 2: 164,614,093 (GRCm39) N143S possibly damaging Het
Ugt1a10 G A 1: 88,146,112 (GRCm39) R519Q probably damaging Het
Utp25 T C 1: 192,790,003 (GRCm39) T719A probably benign Het
Vmn2r9 T C 5: 108,995,463 (GRCm39) Y395C probably damaging Het
Vwa8 G A 14: 79,341,137 (GRCm39) probably null Het
Zfp9 A G 6: 118,441,937 (GRCm39) Y242H 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
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 PCR Primer
(F):5'- TCCAGGAACTCTGTTTTGATGC -3'
(R):5'- TAGCATTCGGAGGTCAGGTG -3'

Sequencing Primer
(F):5'- GGAACTCTGTTTTGATGCCACCTG -3'
(R):5'- GAGTAGCCGACGTCTGAACAC -3'
Posted On 2015-10-08