Incidental Mutation 'R2027:Dpp8'
ID 220822
Institutional Source Beutler Lab
Gene Symbol Dpp8
Ensembl Gene ENSMUSG00000032393
Gene Name dipeptidylpeptidase 8
Synonyms 2310004I03Rik, 4932434F09Rik
MMRRC Submission 040035-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.167) question?
Stock # R2027 (G1)
Quality Score 225
Status Validated
Chromosome 9
Chromosomal Location 64939696-64989933 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 64986056 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Asparagine at position 849 (Y849N)
Ref Sequence ENSEMBL: ENSMUSP00000126065 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034960] [ENSMUST00000167773] [ENSMUST00000217434]
AlphaFold Q80YA7
Predicted Effect probably damaging
Transcript: ENSMUST00000034960
AA Change: Y849N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000034960
Gene: ENSMUSG00000032393
AA Change: Y849N

DomainStartEndE-ValueType
low complexity region 144 154 N/A INTRINSIC
Pfam:DPPIV_N 168 589 1e-100 PFAM
Pfam:Peptidase_S15 636 830 7.3e-11 PFAM
Pfam:Abhydrolase_5 671 860 4.8e-9 PFAM
Pfam:Peptidase_S9 676 885 6.5e-62 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000167773
AA Change: Y849N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000126065
Gene: ENSMUSG00000032393
AA Change: Y849N

DomainStartEndE-ValueType
low complexity region 144 154 N/A INTRINSIC
Pfam:DPPIV_N 168 589 3.3e-102 PFAM
Pfam:Peptidase_S15 636 830 7.3e-11 PFAM
Pfam:Abhydrolase_5 670 860 6.5e-9 PFAM
Pfam:Peptidase_S9 677 885 8.6e-63 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000214247
Predicted Effect noncoding transcript
Transcript: ENSMUST00000214559
Predicted Effect noncoding transcript
Transcript: ENSMUST00000214678
Predicted Effect noncoding transcript
Transcript: ENSMUST00000217328
Predicted Effect probably benign
Transcript: ENSMUST00000217434
Meta Mutation Damage Score 0.9365 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.6%
  • 10x: 97.1%
  • 20x: 94.7%
Validation Efficiency 100% (70/70)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the peptidase S9B family, a small family of dipeptidyl peptidases that are able to cleave peptide substrates at a prolyl bond. The encoded protein shares similarity with dipeptidyl peptidase IV in that it is ubiquitously expressed, and hydrolyzes the same substrates. These similarities suggest that, like dipeptidyl peptidase IV, this protein may play a role in T-cell activation and immune function. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 70 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A4gnt T C 9: 99,502,254 (GRCm39) V138A possibly damaging Het
Aatk A G 11: 119,900,143 (GRCm39) S1291P probably damaging Het
Adgrv1 C T 13: 81,743,301 (GRCm39) V67M probably damaging Het
Apoa4 G A 9: 46,154,298 (GRCm39) V300M probably damaging Het
Bcl2a1d A T 9: 88,613,438 (GRCm39) V112E possibly damaging Het
Bltp1 T A 3: 37,102,110 (GRCm39) probably benign Het
Cabp2 T A 19: 4,137,126 (GRCm39) M166K probably damaging Het
Camsap1 A G 2: 25,828,538 (GRCm39) V1062A possibly damaging Het
Cap1 T G 4: 122,756,686 (GRCm39) probably benign Het
Caprin2 A G 6: 148,779,385 (GRCm39) Y141H probably damaging Het
Card11 T C 5: 140,892,522 (GRCm39) Y181C probably damaging Het
Ccdc107 T C 4: 43,495,874 (GRCm39) V259A probably benign Het
Ccn4 A G 15: 66,789,258 (GRCm39) E248G possibly damaging Het
Chd9 A G 8: 91,634,619 (GRCm39) probably benign Het
Cibar1 T A 4: 12,171,216 (GRCm39) D79V probably damaging Het
Col12a1 T C 9: 79,553,075 (GRCm39) probably null Het
Cuzd1 T C 7: 130,921,820 (GRCm39) T61A possibly damaging Het
Dbp C A 7: 45,357,700 (GRCm39) D89E probably benign Het
Dhps A T 8: 85,799,240 (GRCm39) N140Y probably damaging Het
Dido1 A T 2: 180,330,974 (GRCm39) L158* probably null Het
Dnah9 T G 11: 65,846,164 (GRCm39) N2958T probably benign Het
Dsg2 A G 18: 20,716,061 (GRCm39) probably benign Het
Efemp1 A T 11: 28,864,696 (GRCm39) Y250F possibly damaging Het
Faxc T C 4: 21,958,439 (GRCm39) probably benign Het
Frem3 G T 8: 81,421,966 (GRCm39) C2122F possibly damaging Het
Gan T C 8: 117,914,238 (GRCm39) probably null Het
Gnl1 A G 17: 36,293,850 (GRCm39) N274D probably benign Het
Hook3 T C 8: 26,528,126 (GRCm39) E588G probably damaging Het
Itpr1 C A 6: 108,363,814 (GRCm39) S812Y possibly damaging Het
Kbtbd3 C T 9: 4,317,075 (GRCm39) probably benign Het
Macf1 C T 4: 123,265,711 (GRCm39) A4821T probably damaging Het
Mepe T C 5: 104,474,957 (GRCm39) S13P possibly damaging Het
Msantd5f6 A G 4: 73,321,295 (GRCm39) I154T possibly damaging Het
Myh11 A G 16: 14,050,532 (GRCm39) Y478H probably damaging Het
Myo7b A G 18: 32,118,013 (GRCm39) V871A probably benign Het
Nckap1 A T 2: 80,365,862 (GRCm39) M466K probably damaging Het
Nup155 A T 15: 8,187,244 (GRCm39) H1391L probably damaging Het
Or4k6 A G 14: 50,475,406 (GRCm39) I312T probably benign Het
Or52r1b A T 7: 102,690,731 (GRCm39) H15L probably benign Het
Or5aq1b T A 2: 86,901,897 (GRCm39) N194Y possibly damaging Het
Or5m13 A C 2: 85,749,114 (GRCm39) S282R probably damaging Het
Or9k2 A G 10: 129,998,604 (GRCm39) I197T probably benign Het
Or9s23 A T 1: 92,501,489 (GRCm39) T199S probably damaging Het
Otof T C 5: 30,578,358 (GRCm39) T97A probably benign Het
Peli2 G A 14: 48,493,602 (GRCm39) E275K probably benign Het
Pik3c2a T C 7: 115,950,057 (GRCm39) Y1320C probably damaging Het
Pkn1 A G 8: 84,398,007 (GRCm39) V795A probably damaging Het
Pramel5 A G 4: 143,998,274 (GRCm39) L323P probably damaging Het
Prr5 A T 15: 84,585,580 (GRCm39) R183W probably damaging Het
Ptch1 T G 13: 63,672,773 (GRCm39) E944A probably benign Het
Rabgef1 A G 5: 130,237,620 (GRCm39) D231G possibly damaging Het
Rbp3 C T 14: 33,677,975 (GRCm39) T641M probably damaging Het
Rc3h1 C T 1: 160,782,507 (GRCm39) P662L probably benign Het
Rpl7a-ps5 G T 17: 58,146,090 (GRCm39) Q47K probably benign Het
Sclt1 G A 3: 41,685,323 (GRCm39) T45I probably benign Het
Slc22a17 A G 14: 55,145,543 (GRCm39) I202T probably damaging Het
Slc25a13 A G 6: 6,073,487 (GRCm39) L457S probably damaging Het
Slc44a3 T C 3: 121,257,059 (GRCm39) probably benign Het
Slc7a9 G A 7: 35,153,562 (GRCm39) V188M probably damaging Het
Spata31d1e A G 13: 59,890,401 (GRCm39) M55T possibly damaging Het
Tmem161a T A 8: 70,630,170 (GRCm39) F119I probably damaging Het
Tmem240 A G 4: 155,819,892 (GRCm39) D32G possibly damaging Het
Tmtc4 T C 14: 123,158,677 (GRCm39) N682S probably benign Het
Uqcrc1 G A 9: 108,776,083 (GRCm39) V262M probably benign Het
Vmn1r87 G A 7: 12,865,823 (GRCm39) R155C probably damaging Het
Vmn2r100 A T 17: 19,742,334 (GRCm39) Q236L probably benign Het
Vmn2r97 T A 17: 19,149,944 (GRCm39) I444N unknown Het
Yif1a A T 19: 5,139,900 (GRCm39) H115L probably damaging Het
Zfp280b T C 10: 75,874,328 (GRCm39) L69S probably damaging Het
Zfp579 C A 7: 4,996,520 (GRCm39) E464* probably null Het
Other mutations in Dpp8
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00519:Dpp8 APN 9 64,985,290 (GRCm39) missense probably damaging 1.00
IGL00576:Dpp8 APN 9 64,951,111 (GRCm39) missense probably benign 0.32
IGL01303:Dpp8 APN 9 64,962,294 (GRCm39) splice site probably benign
IGL01506:Dpp8 APN 9 64,970,699 (GRCm39) splice site probably benign
IGL01544:Dpp8 APN 9 64,962,270 (GRCm39) missense probably benign 0.05
IGL02387:Dpp8 APN 9 64,952,998 (GRCm39) missense probably damaging 1.00
IGL02567:Dpp8 APN 9 64,986,058 (GRCm39) nonsense probably null
IGL02611:Dpp8 APN 9 64,963,075 (GRCm39) missense probably benign 0.15
IGL02723:Dpp8 APN 9 64,949,549 (GRCm39) missense possibly damaging 0.91
IGL02927:Dpp8 APN 9 64,967,551 (GRCm39) missense probably benign 0.09
IGL03116:Dpp8 APN 9 64,973,749 (GRCm39) missense probably damaging 0.96
IGL03135:Dpp8 APN 9 64,960,322 (GRCm39) splice site probably null
IGL03356:Dpp8 APN 9 64,953,069 (GRCm39) missense probably benign 0.00
almaviva UTSW 9 64,983,085 (GRCm39) missense probably damaging 1.00
bartolo UTSW 9 64,986,000 (GRCm39) missense probably damaging 1.00
Cherubino UTSW 9 64,962,205 (GRCm39) missense probably benign
rosina UTSW 9 64,983,066 (GRCm39) missense possibly damaging 0.88
IGL03050:Dpp8 UTSW 9 64,962,118 (GRCm39) missense probably benign 0.00
R0498:Dpp8 UTSW 9 64,953,077 (GRCm39) splice site probably benign
R0594:Dpp8 UTSW 9 64,944,280 (GRCm39) missense probably damaging 1.00
R0675:Dpp8 UTSW 9 64,973,784 (GRCm39) splice site probably benign
R0699:Dpp8 UTSW 9 64,962,176 (GRCm39) missense probably benign 0.01
R0831:Dpp8 UTSW 9 64,985,961 (GRCm39) missense possibly damaging 0.56
R1148:Dpp8 UTSW 9 64,961,114 (GRCm39) critical splice donor site probably null
R1148:Dpp8 UTSW 9 64,961,114 (GRCm39) critical splice donor site probably null
R1512:Dpp8 UTSW 9 64,971,096 (GRCm39) splice site probably benign
R1515:Dpp8 UTSW 9 64,986,030 (GRCm39) missense probably benign 0.04
R1546:Dpp8 UTSW 9 64,970,775 (GRCm39) missense possibly damaging 0.76
R1556:Dpp8 UTSW 9 64,958,761 (GRCm39) missense probably damaging 1.00
R2104:Dpp8 UTSW 9 64,981,849 (GRCm39) splice site probably null
R2113:Dpp8 UTSW 9 64,971,150 (GRCm39) missense probably benign 0.00
R2656:Dpp8 UTSW 9 64,988,086 (GRCm39) missense probably damaging 1.00
R4237:Dpp8 UTSW 9 64,962,205 (GRCm39) missense probably benign
R4238:Dpp8 UTSW 9 64,962,205 (GRCm39) missense probably benign
R4239:Dpp8 UTSW 9 64,962,205 (GRCm39) missense probably benign
R4595:Dpp8 UTSW 9 64,983,085 (GRCm39) missense probably damaging 1.00
R4614:Dpp8 UTSW 9 64,973,678 (GRCm39) missense probably benign 0.00
R4946:Dpp8 UTSW 9 64,963,200 (GRCm39) missense probably benign 0.00
R5338:Dpp8 UTSW 9 64,971,206 (GRCm39) nonsense probably null
R5378:Dpp8 UTSW 9 64,985,296 (GRCm39) missense probably damaging 1.00
R5506:Dpp8 UTSW 9 64,985,391 (GRCm39) splice site probably null
R5644:Dpp8 UTSW 9 64,953,017 (GRCm39) nonsense probably null
R5862:Dpp8 UTSW 9 64,953,004 (GRCm39) missense probably benign 0.03
R6437:Dpp8 UTSW 9 64,981,860 (GRCm39) missense probably benign 0.01
R6783:Dpp8 UTSW 9 64,970,844 (GRCm39) missense possibly damaging 0.76
R6863:Dpp8 UTSW 9 64,942,290 (GRCm39) missense probably damaging 0.98
R7192:Dpp8 UTSW 9 64,953,068 (GRCm39) missense possibly damaging 0.70
R7461:Dpp8 UTSW 9 64,960,402 (GRCm39) missense possibly damaging 0.86
R7514:Dpp8 UTSW 9 64,986,036 (GRCm39) missense probably damaging 1.00
R7548:Dpp8 UTSW 9 64,944,517 (GRCm39) missense probably damaging 1.00
R7584:Dpp8 UTSW 9 64,986,064 (GRCm39) missense probably damaging 0.98
R7605:Dpp8 UTSW 9 64,962,240 (GRCm39) missense probably benign 0.33
R7613:Dpp8 UTSW 9 64,960,402 (GRCm39) missense possibly damaging 0.86
R7665:Dpp8 UTSW 9 64,986,000 (GRCm39) missense probably damaging 1.00
R7698:Dpp8 UTSW 9 64,949,618 (GRCm39) missense probably benign 0.00
R7844:Dpp8 UTSW 9 64,952,949 (GRCm39) missense probably damaging 0.99
R7935:Dpp8 UTSW 9 64,944,262 (GRCm39) missense possibly damaging 0.82
R8079:Dpp8 UTSW 9 64,951,017 (GRCm39) missense probably damaging 1.00
R8121:Dpp8 UTSW 9 64,985,362 (GRCm39) missense probably benign 0.10
R8315:Dpp8 UTSW 9 64,988,133 (GRCm39) makesense probably null
R8419:Dpp8 UTSW 9 64,988,037 (GRCm39) missense probably benign 0.34
R8516:Dpp8 UTSW 9 64,985,291 (GRCm39) missense probably damaging 1.00
R8524:Dpp8 UTSW 9 64,950,989 (GRCm39) missense probably damaging 1.00
R8896:Dpp8 UTSW 9 64,985,318 (GRCm39) missense possibly damaging 0.88
R8922:Dpp8 UTSW 9 64,981,793 (GRCm39) missense probably benign 0.02
R8935:Dpp8 UTSW 9 64,983,066 (GRCm39) missense possibly damaging 0.88
R9463:Dpp8 UTSW 9 64,973,700 (GRCm39) nonsense probably null
R9518:Dpp8 UTSW 9 64,981,866 (GRCm39) missense possibly damaging 0.90
R9732:Dpp8 UTSW 9 64,970,862 (GRCm39) critical splice donor site probably null
R9751:Dpp8 UTSW 9 64,960,453 (GRCm39) missense probably null 0.65
Z1177:Dpp8 UTSW 9 64,973,767 (GRCm39) missense probably damaging 1.00
Z1177:Dpp8 UTSW 9 64,971,148 (GRCm39) frame shift probably null
Predicted Primers PCR Primer
(F):5'- TTAAAGGACGTGCGGGTCAG -3'
(R):5'- GAAGAGGCCACCATTTCTAGGC -3'

Sequencing Primer
(F):5'- AGCCGTCACGCTCTTCTG -3'
(R):5'- GAGGCCACCATTTCTAGGCCTATAG -3'
Posted On 2014-08-25