Incidental Mutation 'R9163:Pde10a'
ID 695879
Institutional Source Beutler Lab
Gene Symbol Pde10a
Ensembl Gene ENSMUSG00000023868
Gene Name phosphodiesterase 10A
Synonyms
MMRRC Submission 068975-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R9163 (G1)
Quality Score 225.009
Status Validated
Chromosome 17
Chromosomal Location 8744204-9205480 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 9181791 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Cysteine to Tyrosine at position 498 (C498Y)
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: C418Y

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000024647
Gene: ENSMUSG00000023868
AA Change: C418Y

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: C498Y

PolyPhen 2 Score 0.891 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000086485
Gene: ENSMUSG00000023868
AA Change: C498Y

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: C214Y

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000111373
Gene: ENSMUSG00000023868
AA Change: C214Y

DomainStartEndE-ValueType
GAF 3 148 5.22e-23 SMART
HDc 238 404 9.04e-7 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000115715
AA Change: C418Y

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000111380
Gene: ENSMUSG00000023868
AA Change: C418Y

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 possibly damaging
Transcript: ENSMUST00000115720
AA Change: C481Y

PolyPhen 2 Score 0.945 (Sensitivity: 0.80; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000111385
Gene: ENSMUSG00000023868
AA Change: C481Y

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: C552Y

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000111389
Gene: ENSMUSG00000023868
AA Change: C552Y

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: C429Y

PolyPhen 2 Score 0.941 (Sensitivity: 0.80; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000123216
Gene: ENSMUSG00000023868
AA Change: C429Y

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: C780Y

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.2%
Validation Efficiency 99% (69/70)
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: 71 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2210408I21Rik T C 13: 77,393,400 (GRCm39) S351P possibly damaging Het
4930558K02Rik A G 1: 161,777,174 (GRCm39) S128P probably benign Het
Adam17 C T 12: 21,401,588 (GRCm39) V136I probably benign Het
Adam19 A G 11: 46,018,176 (GRCm39) T413A probably benign Het
Adam28 T C 14: 68,866,531 (GRCm39) K443E probably damaging Het
Adgrv1 T A 13: 81,567,541 (GRCm39) T5211S probably benign Het
Adnp2 A T 18: 80,172,200 (GRCm39) N736K possibly damaging Het
Agtpbp1 C T 13: 59,609,884 (GRCm39) W1082* probably null Het
Ap3b2 T G 7: 81,113,546 (GRCm39) M888L unknown Het
Arhgap35 C A 7: 16,295,549 (GRCm39) R1172L possibly damaging Het
Arrdc3 T A 13: 81,041,506 (GRCm39) D402E probably benign Het
Ccdc14 T C 16: 34,511,118 (GRCm39) F31L possibly damaging Het
Cd5l T G 3: 87,274,932 (GRCm39) L157R probably benign Het
Cdc14a G T 3: 116,122,213 (GRCm39) D251E possibly damaging Het
Cfap210 A T 2: 69,606,510 (GRCm39) I302K probably benign Het
Chmp2a T A 7: 12,766,645 (GRCm39) Q91L possibly damaging Het
Col12a1 A G 9: 79,548,729 (GRCm39) probably null Het
Ctdsp1 G T 1: 74,434,126 (GRCm39) R201L possibly damaging Het
Dhx15 C T 5: 52,342,198 (GRCm39) R40H probably damaging Het
Dnph1 A G 17: 46,809,860 (GRCm39) Y134C probably damaging Het
Foxo1 T A 3: 52,253,301 (GRCm39) V488D probably benign Het
Gcn1 C A 5: 115,742,944 (GRCm39) N1538K probably benign Het
Gldc T A 19: 30,111,686 (GRCm39) E500V probably benign Het
Hhip G A 8: 80,701,743 (GRCm39) T597I probably benign Het
Hmgn1 A G 16: 95,928,509 (GRCm39) probably null Het
Ifi205 A T 1: 173,844,988 (GRCm39) S265T possibly damaging Het
Igkv1-131 T C 6: 67,743,753 (GRCm39) M2V probably benign Het
Irgm2 T G 11: 58,111,280 (GRCm39) S324A probably damaging Het
Jarid2 C G 13: 45,064,727 (GRCm39) D937E possibly damaging Het
Jrkl A T 9: 13,245,404 (GRCm39) W86R probably damaging Het
Kbtbd3 A G 9: 4,330,584 (GRCm39) I319M probably benign Het
Klhl7 T C 5: 24,364,465 (GRCm39) Y500H probably damaging Het
Lats1 C T 10: 7,578,052 (GRCm39) A392V probably benign Het
Llgl1 G T 11: 60,600,402 (GRCm39) A584S probably benign Het
Macf1 G T 4: 123,403,686 (GRCm39) S560Y probably damaging Het
Or4c11 C T 2: 88,695,795 (GRCm39) P282L possibly damaging Het
Or8c10 T A 9: 38,279,378 (GRCm39) C169S probably damaging Het
Pde4dip A G 3: 97,659,123 (GRCm39) probably null Het
Pdhx G A 2: 102,852,561 (GRCm39) P434L probably damaging Het
Pdlim3 T C 8: 46,338,711 (GRCm39) probably null Het
Pik3c3 T C 18: 30,427,483 (GRCm39) probably null Het
Prkag1 T C 15: 98,711,900 (GRCm39) K242R possibly damaging Het
Rap1b A G 10: 117,654,391 (GRCm39) S150P possibly damaging Het
Scn4a A G 11: 106,217,076 (GRCm39) S1102P probably damaging Het
Scrib A G 15: 75,921,108 (GRCm39) Y1332H probably damaging Het
Sim1 A G 10: 50,772,165 (GRCm39) E58G probably benign Het
Slc13a1 C T 6: 24,097,578 (GRCm39) probably null Het
Slc17a8 A G 10: 89,425,444 (GRCm39) V380A probably damaging Het
Slc5a4b G T 10: 75,917,165 (GRCm39) Y290* probably null Het
Slco4c1 A G 1: 96,764,633 (GRCm39) F480L probably damaging Het
Srcap T C 7: 127,121,162 (GRCm39) V146A unknown Het
Ssc5d T A 7: 4,936,432 (GRCm39) D559E probably damaging Het
Sstr5 A C 17: 25,710,584 (GRCm39) I215S probably damaging Het
Stambpl1 G A 19: 34,212,634 (GRCm39) C268Y probably benign Het
Stard3nl C A 13: 19,560,809 (GRCm39) probably benign Het
Sycp3 T C 10: 88,299,734 (GRCm39) probably null Het
Syne2 A T 12: 76,009,349 (GRCm39) M2417L possibly damaging Het
Tenm4 T G 7: 96,473,080 (GRCm39) Y959D probably damaging Het
Tmem132d T A 5: 127,869,570 (GRCm39) D588V possibly damaging Het
Tnfrsf26 T C 7: 143,172,130 (GRCm39) E60G possibly damaging Het
Topbp1 A G 9: 103,205,767 (GRCm39) R802G probably benign Het
Trmu T C 15: 85,781,096 (GRCm39) V360A probably benign Het
Tshz2 G A 2: 169,726,562 (GRCm39) C386Y probably damaging Het
Ttn A T 2: 76,700,771 (GRCm39) D61E Het
Upf1 T C 8: 70,792,674 (GRCm39) T345A probably benign Het
Vmn2r23 T A 6: 123,718,782 (GRCm39) C712S probably damaging Het
Vmn2r44 C T 7: 8,371,091 (GRCm39) V652I probably benign Het
Wfdc1 T C 8: 120,393,302 (GRCm39) V8A probably benign Het
Xrn1 A G 9: 95,880,274 (GRCm39) Y738C probably benign Het
Zfp618 T G 4: 63,051,511 (GRCm39) V764G probably damaging Het
Znfx1 A T 2: 166,898,261 (GRCm39) M221K 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
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
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'- ATAGACTCCTGCAGGAACCC -3'
(R):5'- GCACGGTTGTACAAGCTCAG -3'

Sequencing Primer
(F):5'- ACTCAGCCAGGTGTTTGCAG -3'
(R):5'- AGCTCAGTCGGTTTTTATTTAACTG -3'
Posted On 2022-02-07