Incidental Mutation 'PIT4431001:Pde7b'
ID 555256
Institutional Source Beutler Lab
Gene Symbol Pde7b
Ensembl Gene ENSMUSG00000019990
Gene Name phosphodiesterase 7B
Synonyms
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # PIT4431001 (G1)
Quality Score 225.009
Status Not validated
Chromosome 10
Chromosomal Location 20273750-20600824 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 20276291 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Arginine at position 405 (H405R)
Ref Sequence ENSEMBL: ENSMUSP00000020165 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000020165] [ENSMUST00000169016] [ENSMUST00000169404] [ENSMUST00000170265]
AlphaFold Q9QXQ1
Predicted Effect possibly damaging
Transcript: ENSMUST00000020165
AA Change: H405R

PolyPhen 2 Score 0.775 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000020165
Gene: ENSMUSG00000019990
AA Change: H405R

DomainStartEndE-ValueType
HDc 170 337 9.04e-7 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000169016
SMART Domains Protein: ENSMUSP00000130596
Gene: ENSMUSG00000019990

DomainStartEndE-ValueType
low complexity region 103 116 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000169404
AA Change: H457R

PolyPhen 2 Score 0.952 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000132378
Gene: ENSMUSG00000019990
AA Change: H457R

DomainStartEndE-ValueType
HDc 222 389 9.04e-7 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000170265
AA Change: H418R

PolyPhen 2 Score 0.873 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000126324
Gene: ENSMUSG00000019990
AA Change: H418R

DomainStartEndE-ValueType
low complexity region 26 38 N/A INTRINSIC
HDc 183 350 9.04e-7 SMART
Coding Region Coverage
  • 1x: 93.2%
  • 3x: 90.7%
  • 10x: 84.7%
  • 20x: 71.4%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The 3',5'-cyclic nucleotides cAMP and cGMP function as second messengers in a wide variety of signal transduction pathways. 3',5'-cyclic nucleotide phosphodiesterases (PDEs) catalyze the hydrolysis of cAMP and cGMP to the corresponding 5'-monophosphates and provide a mechanism to downregulate cAMP and cGMP signaling. This gene encodes a cAMP-specific phosphodiesterase, a member of the cyclic nucleotide phosphodiesterase family.[provided by RefSeq, Apr 2009]
Allele List at MGI
Other mutations in this stock
Total: 74 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930449I24Rik A G 5: 146,439,322 (GRCm39) I29V probably benign Het
5730455P16Rik C A 11: 80,254,750 (GRCm39) C357F probably damaging Het
Actr1a A T 19: 46,370,731 (GRCm39) probably null Het
Adcy1 C G 11: 7,014,089 (GRCm39) Q164E possibly damaging Het
Arhgap35 A T 7: 16,295,536 (GRCm39) S1176R possibly damaging Het
Atad2b A G 12: 5,081,795 (GRCm39) T1235A possibly damaging Het
Atosb C A 4: 43,036,024 (GRCm39) G236C probably damaging Het
Atp8a2 T C 14: 59,892,075 (GRCm39) D1091G probably benign Het
Bmp6 T C 13: 38,669,906 (GRCm39) S397P probably benign Het
C3 A T 17: 57,513,242 (GRCm39) N1468K probably benign Het
Ccnjl CGCG CGCGGCG 11: 43,470,534 (GRCm39) probably benign Het
Ccr1 T C 9: 123,764,231 (GRCm39) I100V probably benign Het
Cep162 T A 9: 87,126,398 (GRCm39) R171S probably benign Het
Chd8 T C 14: 52,455,706 (GRCm39) H994R probably damaging Het
Cntn3 T A 6: 102,441,527 (GRCm39) K6N probably benign Het
Cope A G 8: 70,765,417 (GRCm39) E289G probably damaging Het
Cpne8 T G 15: 90,436,178 (GRCm39) E279A probably damaging Het
Cyp11a1 A T 9: 57,923,555 (GRCm39) probably null Het
Dcp2 A G 18: 44,545,638 (GRCm39) K333R probably benign Het
Dpp6 G T 5: 27,836,496 (GRCm39) V329F probably benign Het
Drc1 T A 5: 30,504,417 (GRCm39) D186E probably damaging Het
Dsc2 G A 18: 20,179,334 (GRCm39) Q245* probably null Het
Eef1e1 T C 13: 38,842,938 (GRCm39) E11G probably damaging Het
Emilin2 G A 17: 71,562,990 (GRCm39) P915S probably benign Het
Fpgt A G 3: 154,792,422 (GRCm39) M535T possibly damaging Het
Fxyd3 G A 7: 30,770,780 (GRCm39) L37F probably damaging Het
Gal3st2c T A 1: 93,935,834 (GRCm39) I62N probably damaging Het
Gdpd3 T C 7: 126,365,647 (GRCm39) I2T probably benign Het
Gm9611 T C 14: 42,115,888 (GRCm39) M169V Het
Ints3 G A 3: 90,303,767 (GRCm39) T720I probably damaging Het
Itpr2 T G 6: 146,256,218 (GRCm39) M992L probably benign Het
L3mbtl2 T A 15: 81,560,508 (GRCm39) H256Q probably benign Het
Lama2 T C 10: 26,977,426 (GRCm39) T1918A probably damaging Het
Lpcat2b G A 5: 107,581,997 (GRCm39) G442D probably damaging Het
Lrp1b C T 2: 40,894,767 (GRCm39) V2268M Het
Macc1 T C 12: 119,410,246 (GRCm39) L338P probably benign Het
Mtmr2 T C 9: 13,704,475 (GRCm39) F201L probably benign Het
Mtr C T 13: 12,227,329 (GRCm39) V772M probably damaging Het
Mtus2 A G 5: 148,013,515 (GRCm39) T103A probably benign Het
Myo5c A G 9: 75,159,853 (GRCm39) I294V possibly damaging Het
Ncam1 A T 9: 49,709,993 (GRCm39) F13I probably benign Het
Or4a75 T C 2: 89,448,201 (GRCm39) I112V probably benign Het
Paqr6 A T 3: 88,273,084 (GRCm39) I52F possibly damaging Het
Pde2a T G 7: 101,151,104 (GRCm39) V271G probably damaging Het
Plxnb1 A G 9: 108,929,786 (GRCm39) Y214C probably damaging Het
Pmp22 T C 11: 63,042,067 (GRCm39) F101L probably benign Het
Pold1 A G 7: 44,188,318 (GRCm39) L520P probably damaging Het
Pramel1 A G 4: 143,124,960 (GRCm39) T295A possibly damaging Het
Psg20 A T 7: 18,408,475 (GRCm39) I415N probably damaging Het
Ptcd2 T A 13: 99,476,527 (GRCm39) R71* probably null Het
Ptgs1 A T 2: 36,130,692 (GRCm39) N197I probably damaging Het
Rbfox3 T C 11: 118,386,047 (GRCm39) D333G probably damaging Het
Rfx7 T A 9: 72,525,253 (GRCm39) H814Q probably benign Het
Rptn TGGGTCAGAAAGGCAGGCATGACCAGAGTCCTCACCAGGGTCAGAAAGGCAGGCATGACCAGAGTCCTCACCAGGGTCAGAAAGGCAGACAAGACCTGAGTTCTCACCAGGGTCAGAAAGGCAGACAAGACCAGAGTCCTCACCTGGGTCAGAAAGGCAGGCATGACCAGAGTCCTCACCGGGGTCAGAAAGGCAGGCAAGACCAGAGTCCTCACCAGGGTCAGAAAGGCAG TGGGTCAGAAAGGCAGGCATGACCAGAGTCCTCACCAGGGTCAGAAAGGCAGACAAGACCTGAGTTCTCACCAGGGTCAGAAAGGCAGACAAGACCAGAGTCCTCACCTGGGTCAGAAAGGCAGGCATGACCAGAGTCCTCACCGGGGTCAGAAAGGCAGGCAAGACCAGAGTCCTCACCAGGGTCAGAAAGGCAG 3: 93,304,704 (GRCm39) probably benign Het
Serpina3i A T 12: 104,231,432 (GRCm39) H23L probably benign Het
Sipa1l1 T A 12: 82,443,290 (GRCm39) V860E probably benign Het
Slc12a1 T A 2: 125,032,124 (GRCm39) Y592N possibly damaging Het
Slco2a1 T C 9: 102,927,467 (GRCm39) F120S probably damaging Het
Smyd4 T C 11: 75,294,339 (GRCm39) F740S probably damaging Het
Sppl2a T C 2: 126,765,396 (GRCm39) Y242C probably damaging Het
Sqle A G 15: 59,195,509 (GRCm39) K288R probably benign Het
Tbc1d17 A G 7: 44,494,498 (GRCm39) S246P probably benign Het
Tenm3 G A 8: 48,688,642 (GRCm39) T2315M probably damaging Het
Tgfb1i1 C T 7: 127,848,353 (GRCm39) R191C probably damaging Het
Thumpd3 T A 6: 113,036,939 (GRCm39) N279K probably benign Het
Tmed5 T A 5: 108,277,887 (GRCm39) H95L possibly damaging Het
Tmem161a T C 8: 70,634,674 (GRCm39) L443P probably damaging Het
Ttc38 C A 15: 85,720,328 (GRCm39) Q97K probably benign Het
Unc13c C A 9: 73,656,829 (GRCm39) C1124F probably damaging Het
Vmn2r102 A G 17: 19,896,958 (GRCm39) T102A possibly damaging Het
Vwce G A 19: 10,641,946 (GRCm39) E891K possibly damaging Het
Xkr5 A T 8: 18,984,361 (GRCm39) S394T possibly damaging Het
Zan C T 5: 137,390,326 (GRCm39) C4747Y unknown Het
Zfp804a T C 2: 82,089,536 (GRCm39) F1122L probably benign Het
Other mutations in Pde7b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00901:Pde7b APN 10 20,494,875 (GRCm39) critical splice donor site probably null
IGL01312:Pde7b APN 10 20,311,940 (GRCm39) critical splice donor site probably null
IGL01728:Pde7b APN 10 20,310,210 (GRCm39) critical splice donor site probably null
IGL01868:Pde7b APN 10 20,282,911 (GRCm39) nonsense probably null
R0241:Pde7b UTSW 10 20,311,962 (GRCm39) missense probably damaging 1.00
R0241:Pde7b UTSW 10 20,311,962 (GRCm39) missense probably damaging 1.00
R0505:Pde7b UTSW 10 20,314,492 (GRCm39) missense probably damaging 1.00
R1386:Pde7b UTSW 10 20,294,547 (GRCm39) missense probably damaging 1.00
R1518:Pde7b UTSW 10 20,423,867 (GRCm39) missense probably damaging 1.00
R1539:Pde7b UTSW 10 20,355,432 (GRCm39) missense possibly damaging 0.75
R1547:Pde7b UTSW 10 20,310,340 (GRCm39) missense probably damaging 1.00
R1571:Pde7b UTSW 10 20,288,836 (GRCm39) missense probably benign 0.05
R1611:Pde7b UTSW 10 20,310,236 (GRCm39) missense probably benign 0.14
R1722:Pde7b UTSW 10 20,311,990 (GRCm39) missense probably damaging 1.00
R2275:Pde7b UTSW 10 20,276,165 (GRCm39) makesense probably null
R4622:Pde7b UTSW 10 20,294,538 (GRCm39) missense probably damaging 1.00
R4666:Pde7b UTSW 10 20,314,496 (GRCm39) missense probably damaging 1.00
R4757:Pde7b UTSW 10 20,423,688 (GRCm39) missense probably benign 0.01
R4823:Pde7b UTSW 10 20,314,531 (GRCm39) missense probably damaging 1.00
R4889:Pde7b UTSW 10 20,423,823 (GRCm39) missense probably benign 0.16
R4910:Pde7b UTSW 10 20,600,480 (GRCm39) unclassified probably benign
R4923:Pde7b UTSW 10 20,288,873 (GRCm39) missense probably damaging 0.98
R5349:Pde7b UTSW 10 20,494,932 (GRCm39) missense probably damaging 0.99
R6258:Pde7b UTSW 10 20,316,546 (GRCm39) missense possibly damaging 0.93
R6645:Pde7b UTSW 10 20,486,312 (GRCm39) critical splice donor site probably null
R7000:Pde7b UTSW 10 20,319,038 (GRCm39) missense probably damaging 1.00
R7510:Pde7b UTSW 10 20,288,761 (GRCm39) missense possibly damaging 0.83
R7717:Pde7b UTSW 10 20,282,937 (GRCm39) missense probably benign 0.05
R7817:Pde7b UTSW 10 20,319,051 (GRCm39) missense probably damaging 1.00
R8692:Pde7b UTSW 10 20,423,639 (GRCm39) missense probably benign 0.10
R8837:Pde7b UTSW 10 20,314,469 (GRCm39) critical splice donor site probably null
Predicted Primers PCR Primer
(F):5'- ATCGAAACCCAGCGTGATG -3'
(R):5'- GCATATCATGTTTGTCCACCCATG -3'

Sequencing Primer
(F):5'- CCAGCGTGATGGGCTTG -3'
(R):5'- TGTCCACCCATGCCTGG -3'
Posted On 2019-06-07