Incidental Mutation 'R7322:Pdzd2'
ID 568240
Institutional Source Beutler Lab
Gene Symbol Pdzd2
Ensembl Gene ENSMUSG00000022197
Gene Name PDZ domain containing 2
Synonyms Gm21706, A930022H17Rik, Pdzk3, 4930537L06Rik, LOC223364
MMRRC Submission 045417-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.117) question?
Stock # R7322 (G1)
Quality Score 225.009
Status Not validated
Chromosome 15
Chromosomal Location 12359797-12740010 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 12437248 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 451 (D451G)
Ref Sequence ENSEMBL: ENSMUSP00000074788 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000075317] [ENSMUST00000190929]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000075317
AA Change: D451G

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000074788
Gene: ENSMUSG00000022197
AA Change: D451G

DomainStartEndE-ValueType
PDZ 81 179 1.27e-2 SMART
PDZ 342 419 1.51e-18 SMART
PDZ 597 675 5.25e-18 SMART
low complexity region 690 718 N/A INTRINSIC
PDZ 738 817 1.64e-10 SMART
low complexity region 861 869 N/A INTRINSIC
low complexity region 969 984 N/A INTRINSIC
low complexity region 986 1000 N/A INTRINSIC
low complexity region 1436 1459 N/A INTRINSIC
low complexity region 1525 1537 N/A INTRINSIC
low complexity region 1538 1553 N/A INTRINSIC
low complexity region 1567 1586 N/A INTRINSIC
low complexity region 2111 2129 N/A INTRINSIC
low complexity region 2190 2198 N/A INTRINSIC
low complexity region 2335 2354 N/A INTRINSIC
low complexity region 2469 2479 N/A INTRINSIC
PDZ 2589 2666 1.3e-13 SMART
PDZ 2716 2794 9.42e-20 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000190929
SMART Domains Protein: ENSMUSP00000140682
Gene: ENSMUSG00000022197

DomainStartEndE-ValueType
PDZ 168 245 3e-20 SMART
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.0%
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 contains six PDZ domains and shares sequence similarity with pro-interleukin-16 (pro-IL-16). Like pro-IL-16, the encoded protein localizes to the endoplasmic reticulum and is thought to be cleaved by a caspase to produce a secreted peptide containing two PDZ domains. In addition, this gene is upregulated in primary prostate tumors and may be involved in the early stages of prostate tumorigenesis. [provided by RefSeq, Dec 2015]
PHENOTYPE: Mice homozygous for a gene trapped allele exhibit normal response to acute and chronic pain. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 68 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca1 A T 4: 53,067,151 (GRCm39) V1352D probably damaging Het
Adam33 C T 2: 130,895,614 (GRCm39) C567Y probably damaging Het
Alppl2 C A 1: 87,015,184 (GRCm39) G422C probably benign Het
Ang T A 14: 51,338,868 (GRCm39) I3K unknown Het
Ankrd10 A T 8: 11,665,841 (GRCm39) V253E probably damaging Het
Arhgef17 T C 7: 100,527,004 (GRCm39) I806V probably benign Het
Atp10b T C 11: 43,103,374 (GRCm39) L586P probably damaging Het
Bdkrb1 T C 12: 105,570,563 (GRCm39) V43A possibly damaging Het
Brinp3 C T 1: 146,558,426 (GRCm39) R117* probably null Het
Brwd1 A T 16: 95,867,319 (GRCm39) M172K probably damaging Het
Bsn G A 9: 108,003,620 (GRCm39) R262* probably null Het
Bst2 A C 8: 71,989,851 (GRCm39) L74R probably damaging Het
C1qa T C 4: 136,623,465 (GRCm39) *246W probably null Het
Cadm2 G A 16: 66,679,734 (GRCm39) T42M probably damaging Het
Ccdc150 A G 1: 54,299,125 (GRCm39) T34A probably benign Het
Ccdc178 G A 18: 22,238,606 (GRCm39) T337M probably benign Het
Ccl8 T C 11: 82,007,408 (GRCm39) V81A probably damaging Het
Dgcr6 A G 16: 17,888,771 (GRCm39) T69A unknown Het
Dnah10 A G 5: 124,898,333 (GRCm39) D3762G probably benign Het
Eif3d T C 15: 77,845,876 (GRCm39) T382A probably benign Het
Epb41 A T 4: 131,717,030 (GRCm39) Y375N probably damaging Het
Epb41l1 A T 2: 156,345,771 (GRCm39) H258L probably damaging Het
Fbn1 A C 2: 125,321,115 (GRCm39) I81S possibly damaging Het
Fzd5 A G 1: 64,774,487 (GRCm39) S425P probably damaging Het
Gfra2 T A 14: 71,205,831 (GRCm39) V398D probably benign Het
Gm3755 A G 14: 18,620,904 (GRCm39) L130P Het
Grin3b A G 10: 79,811,529 (GRCm39) Y705C probably damaging Het
Hmcn2 A G 2: 31,349,093 (GRCm39) D4944G probably damaging Het
Hoxd11 T C 2: 74,514,355 (GRCm39) L295P probably damaging Het
Ighv1-81 C A 12: 115,884,287 (GRCm39) G16C possibly damaging Het
Kcna5 T C 6: 126,510,754 (GRCm39) D458G possibly damaging Het
Klb A T 5: 65,540,707 (GRCm39) E933D probably benign Het
Lrp1 A T 10: 127,381,433 (GRCm39) M3855K probably benign Het
Map3k4 A T 17: 12,489,833 (GRCm39) L533I probably damaging Het
Mrps6 C A 16: 91,855,335 (GRCm39) Y4* probably null Het
Nabp1 A T 1: 51,512,229 (GRCm39) V105E probably damaging Het
Naip6 T A 13: 100,435,896 (GRCm39) N876Y possibly damaging Het
Nlrp2 T C 7: 5,311,644 (GRCm39) S944G possibly damaging Het
Nr4a3 A T 4: 48,083,238 (GRCm39) E590D probably benign Het
Or10h5 A G 17: 33,434,673 (GRCm39) I215T probably damaging Het
Or1b1 T C 2: 36,995,603 (GRCm39) R20G probably null Het
Or52ab2 T A 7: 102,970,494 (GRCm39) V292E Het
Or5j1 A T 2: 86,878,823 (GRCm39) Y252* probably null Het
Or8k22 C T 2: 86,162,908 (GRCm39) S264N probably benign Het
Pcp4l1 G A 1: 171,002,034 (GRCm39) A42V possibly damaging Het
Pkd2l1 A G 19: 44,146,129 (GRCm39) S142P probably benign Het
Postn T C 3: 54,277,701 (GRCm39) L232P probably damaging Het
Prss8 T C 7: 127,528,735 (GRCm39) T33A probably benign Het
Ptgr3 A G 18: 84,113,260 (GRCm39) Y312C probably damaging Het
Rapgef2 A T 3: 79,053,130 (GRCm39) M1K probably null Het
Rasa3 T C 8: 13,645,857 (GRCm39) N161S possibly damaging Het
Riox1 G A 12: 83,997,442 (GRCm39) probably benign Het
Rmdn2 A T 17: 79,929,040 (GRCm39) K97N probably damaging Het
Sgo1 A G 17: 53,984,085 (GRCm39) L431P probably damaging Het
Slc9a8 T A 2: 167,293,222 (GRCm39) V217E probably damaging Het
Slco2b1 C T 7: 99,341,055 (GRCm39) G21D not run Het
Spata31d1d C A 13: 59,874,790 (GRCm39) R915L probably benign Het
Stk17b A T 1: 53,805,104 (GRCm39) N152K probably benign Het
Syne2 T A 12: 76,030,798 (GRCm39) I3634N probably damaging Het
Tnfrsf9 A G 4: 151,018,794 (GRCm39) D155G probably damaging Het
Tnrc6a T A 7: 122,770,731 (GRCm39) D840E probably benign Het
Tyk2 G A 9: 21,021,500 (GRCm39) S902L probably benign Het
Unc119 T C 11: 78,239,449 (GRCm39) S235P probably damaging Het
Vav1 A C 17: 57,609,266 (GRCm39) D394A probably benign Het
Vezf1 T A 11: 87,972,410 (GRCm39) I439K possibly damaging Het
Zfp335 A T 2: 164,752,741 (GRCm39) M1K probably null Het
Zfp715 T C 7: 42,960,562 (GRCm39) T10A possibly damaging Het
Zmynd11 C T 13: 9,740,445 (GRCm39) E382K possibly damaging Het
Other mutations in Pdzd2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00159:Pdzd2 APN 15 12,458,069 (GRCm39) missense possibly damaging 0.93
IGL00586:Pdzd2 APN 15 12,365,853 (GRCm39) splice site probably null
IGL00697:Pdzd2 APN 15 12,373,733 (GRCm39) missense possibly damaging 0.81
IGL00721:Pdzd2 APN 15 12,374,498 (GRCm39) missense probably benign 0.00
IGL00971:Pdzd2 APN 15 12,374,804 (GRCm39) missense probably benign 0.00
IGL01066:Pdzd2 APN 15 12,402,718 (GRCm39) unclassified probably benign
IGL01389:Pdzd2 APN 15 12,374,712 (GRCm39) missense possibly damaging 0.56
IGL01505:Pdzd2 APN 15 12,458,293 (GRCm39) missense probably damaging 1.00
IGL01527:Pdzd2 APN 15 12,445,750 (GRCm39) missense probably damaging 1.00
IGL01584:Pdzd2 APN 15 12,592,569 (GRCm39) missense probably damaging 1.00
IGL01763:Pdzd2 APN 15 12,372,632 (GRCm39) missense probably benign
IGL01915:Pdzd2 APN 15 12,371,725 (GRCm39) missense probably damaging 1.00
IGL01947:Pdzd2 APN 15 12,592,440 (GRCm39) missense probably damaging 1.00
IGL02058:Pdzd2 APN 15 12,376,382 (GRCm39) missense possibly damaging 0.87
IGL02274:Pdzd2 APN 15 12,445,735 (GRCm39) missense probably damaging 1.00
IGL02408:Pdzd2 APN 15 12,375,851 (GRCm39) missense probably benign 0.00
IGL02600:Pdzd2 APN 15 12,411,105 (GRCm39) missense probably damaging 1.00
IGL02637:Pdzd2 APN 15 12,385,720 (GRCm39) missense probably benign 0.13
IGL02639:Pdzd2 APN 15 12,592,329 (GRCm39) missense probably damaging 1.00
IGL02712:Pdzd2 APN 15 12,376,113 (GRCm39) missense probably benign 0.00
IGL02967:Pdzd2 APN 15 12,374,427 (GRCm39) missense probably benign 0.04
IGL02992:Pdzd2 APN 15 12,382,708 (GRCm39) missense possibly damaging 0.77
IGL03005:Pdzd2 APN 15 12,385,351 (GRCm39) missense probably damaging 1.00
IGL03067:Pdzd2 APN 15 12,388,628 (GRCm39) critical splice donor site probably null
IGL03335:Pdzd2 APN 15 12,373,850 (GRCm39) missense probably benign 0.00
PIT4280001:Pdzd2 UTSW 15 12,399,374 (GRCm39) missense probably damaging 1.00
R0022:Pdzd2 UTSW 15 12,371,691 (GRCm39) missense possibly damaging 0.94
R0241:Pdzd2 UTSW 15 12,368,027 (GRCm39) missense probably damaging 1.00
R0241:Pdzd2 UTSW 15 12,368,027 (GRCm39) missense probably damaging 1.00
R0446:Pdzd2 UTSW 15 12,375,110 (GRCm39) missense probably benign 0.43
R0462:Pdzd2 UTSW 15 12,592,246 (GRCm39) missense probably damaging 1.00
R0562:Pdzd2 UTSW 15 12,592,364 (GRCm39) missense probably damaging 1.00
R0589:Pdzd2 UTSW 15 12,376,385 (GRCm39) missense probably benign 0.03
R0639:Pdzd2 UTSW 15 12,458,144 (GRCm39) missense possibly damaging 0.77
R0925:Pdzd2 UTSW 15 12,399,356 (GRCm39) missense probably damaging 1.00
R1015:Pdzd2 UTSW 15 12,374,594 (GRCm39) missense probably damaging 1.00
R1054:Pdzd2 UTSW 15 12,371,725 (GRCm39) missense probably damaging 1.00
R1070:Pdzd2 UTSW 15 12,390,052 (GRCm39) critical splice donor site probably null
R1099:Pdzd2 UTSW 15 12,373,173 (GRCm39) missense probably damaging 1.00
R1122:Pdzd2 UTSW 15 12,457,981 (GRCm39) missense probably benign 0.25
R1126:Pdzd2 UTSW 15 12,458,306 (GRCm39) missense possibly damaging 0.94
R1381:Pdzd2 UTSW 15 12,385,525 (GRCm39) missense probably benign 0.02
R1385:Pdzd2 UTSW 15 12,411,108 (GRCm39) missense probably benign 0.38
R1513:Pdzd2 UTSW 15 12,373,915 (GRCm39) missense possibly damaging 0.88
R1538:Pdzd2 UTSW 15 12,373,047 (GRCm39) missense probably damaging 1.00
R1750:Pdzd2 UTSW 15 12,385,950 (GRCm39) missense probably damaging 1.00
R1775:Pdzd2 UTSW 15 12,592,546 (GRCm39) missense probably damaging 1.00
R1801:Pdzd2 UTSW 15 12,387,740 (GRCm39) missense possibly damaging 0.56
R1832:Pdzd2 UTSW 15 12,390,134 (GRCm39) missense probably damaging 1.00
R1856:Pdzd2 UTSW 15 12,373,941 (GRCm39) missense possibly damaging 0.87
R1870:Pdzd2 UTSW 15 12,457,972 (GRCm39) missense probably damaging 1.00
R1879:Pdzd2 UTSW 15 12,373,986 (GRCm39) missense possibly damaging 0.61
R2072:Pdzd2 UTSW 15 12,385,905 (GRCm39) missense probably damaging 1.00
R2073:Pdzd2 UTSW 15 12,385,905 (GRCm39) missense probably damaging 1.00
R2075:Pdzd2 UTSW 15 12,385,905 (GRCm39) missense probably damaging 1.00
R2125:Pdzd2 UTSW 15 12,373,676 (GRCm39) missense probably benign 0.37
R2142:Pdzd2 UTSW 15 12,406,645 (GRCm39) missense probably damaging 1.00
R2155:Pdzd2 UTSW 15 12,375,879 (GRCm39) missense probably benign 0.43
R2282:Pdzd2 UTSW 15 12,373,934 (GRCm39) missense possibly damaging 0.95
R2407:Pdzd2 UTSW 15 12,373,247 (GRCm39) missense probably damaging 1.00
R3545:Pdzd2 UTSW 15 12,375,557 (GRCm39) missense probably benign 0.00
R3878:Pdzd2 UTSW 15 12,376,262 (GRCm39) missense probably benign 0.00
R3879:Pdzd2 UTSW 15 12,375,594 (GRCm39) missense probably damaging 1.00
R4396:Pdzd2 UTSW 15 12,387,732 (GRCm39) missense probably benign 0.36
R4398:Pdzd2 UTSW 15 12,376,061 (GRCm39) missense probably benign 0.30
R4491:Pdzd2 UTSW 15 12,385,723 (GRCm39) missense possibly damaging 0.75
R4492:Pdzd2 UTSW 15 12,419,567 (GRCm39) missense possibly damaging 0.48
R4492:Pdzd2 UTSW 15 12,385,723 (GRCm39) missense possibly damaging 0.75
R4656:Pdzd2 UTSW 15 12,385,797 (GRCm39) missense probably benign 0.00
R4715:Pdzd2 UTSW 15 12,419,602 (GRCm39) missense possibly damaging 0.72
R4803:Pdzd2 UTSW 15 12,374,681 (GRCm39) missense probably benign 0.04
R4893:Pdzd2 UTSW 15 12,385,429 (GRCm39) missense probably benign 0.00
R4959:Pdzd2 UTSW 15 12,375,734 (GRCm39) missense probably damaging 1.00
R4973:Pdzd2 UTSW 15 12,375,734 (GRCm39) missense probably damaging 1.00
R5030:Pdzd2 UTSW 15 12,592,494 (GRCm39) nonsense probably null
R5174:Pdzd2 UTSW 15 12,372,600 (GRCm39) missense probably benign 0.01
R5230:Pdzd2 UTSW 15 12,390,119 (GRCm39) missense probably damaging 1.00
R5256:Pdzd2 UTSW 15 12,373,028 (GRCm39) missense possibly damaging 0.87
R5268:Pdzd2 UTSW 15 12,592,263 (GRCm39) missense probably damaging 1.00
R5488:Pdzd2 UTSW 15 12,382,762 (GRCm39) missense probably benign 0.00
R5489:Pdzd2 UTSW 15 12,382,762 (GRCm39) missense probably benign 0.00
R5588:Pdzd2 UTSW 15 12,374,367 (GRCm39) missense possibly damaging 0.48
R5605:Pdzd2 UTSW 15 12,592,436 (GRCm39) nonsense probably null
R5704:Pdzd2 UTSW 15 12,385,761 (GRCm39) missense probably benign 0.02
R5858:Pdzd2 UTSW 15 12,442,675 (GRCm39) missense probably damaging 0.97
R6048:Pdzd2 UTSW 15 12,592,656 (GRCm39) splice site probably null
R6222:Pdzd2 UTSW 15 12,374,652 (GRCm39) missense probably damaging 1.00
R6311:Pdzd2 UTSW 15 12,458,274 (GRCm39) missense probably damaging 1.00
R6734:Pdzd2 UTSW 15 12,592,551 (GRCm39) missense probably damaging 1.00
R6897:Pdzd2 UTSW 15 12,385,951 (GRCm39) missense probably damaging 1.00
R6900:Pdzd2 UTSW 15 12,374,123 (GRCm39) missense probably benign
R6955:Pdzd2 UTSW 15 12,401,550 (GRCm39) missense probably damaging 1.00
R6959:Pdzd2 UTSW 15 12,375,993 (GRCm39) missense probably benign 0.17
R6992:Pdzd2 UTSW 15 12,457,945 (GRCm39) missense probably damaging 1.00
R7014:Pdzd2 UTSW 15 12,373,061 (GRCm39) missense probably benign 0.14
R7014:Pdzd2 UTSW 15 12,372,647 (GRCm39) missense probably benign 0.13
R7110:Pdzd2 UTSW 15 12,368,099 (GRCm39) missense probably damaging 1.00
R7180:Pdzd2 UTSW 15 12,376,209 (GRCm39) missense probably damaging 0.99
R7228:Pdzd2 UTSW 15 12,458,231 (GRCm39) nonsense probably null
R7228:Pdzd2 UTSW 15 12,373,059 (GRCm39) missense probably benign 0.01
R7317:Pdzd2 UTSW 15 12,592,329 (GRCm39) missense probably damaging 1.00
R7349:Pdzd2 UTSW 15 12,399,291 (GRCm39) missense probably damaging 1.00
R7600:Pdzd2 UTSW 15 12,372,820 (GRCm39) missense probably damaging 1.00
R7663:Pdzd2 UTSW 15 12,373,289 (GRCm39) missense probably damaging 1.00
R7712:Pdzd2 UTSW 15 12,407,422 (GRCm39) missense probably damaging 1.00
R7716:Pdzd2 UTSW 15 12,373,460 (GRCm39) missense possibly damaging 0.63
R7740:Pdzd2 UTSW 15 12,374,102 (GRCm39) missense probably benign 0.00
R7748:Pdzd2 UTSW 15 12,385,872 (GRCm39) missense possibly damaging 0.60
R8017:Pdzd2 UTSW 15 12,373,122 (GRCm39) missense probably damaging 1.00
R8019:Pdzd2 UTSW 15 12,373,122 (GRCm39) missense probably damaging 1.00
R8108:Pdzd2 UTSW 15 12,373,592 (GRCm39) missense probably benign 0.01
R8109:Pdzd2 UTSW 15 12,373,592 (GRCm39) missense probably benign 0.01
R8110:Pdzd2 UTSW 15 12,373,592 (GRCm39) missense probably benign 0.01
R8111:Pdzd2 UTSW 15 12,373,592 (GRCm39) missense probably benign 0.01
R8145:Pdzd2 UTSW 15 12,407,458 (GRCm39) missense probably benign 0.37
R8220:Pdzd2 UTSW 15 12,592,249 (GRCm39) missense probably damaging 0.99
R8278:Pdzd2 UTSW 15 12,375,995 (GRCm39) missense probably benign
R8768:Pdzd2 UTSW 15 12,437,252 (GRCm39) missense probably damaging 1.00
R8879:Pdzd2 UTSW 15 12,402,405 (GRCm39) missense probably damaging 1.00
R9019:Pdzd2 UTSW 15 12,375,612 (GRCm39) missense probably damaging 1.00
R9030:Pdzd2 UTSW 15 12,374,385 (GRCm39) missense probably benign 0.02
R9061:Pdzd2 UTSW 15 12,374,753 (GRCm39) missense possibly damaging 0.94
R9302:Pdzd2 UTSW 15 12,374,342 (GRCm39) missense possibly damaging 0.61
R9321:Pdzd2 UTSW 15 12,386,023 (GRCm39) missense probably benign 0.00
R9421:Pdzd2 UTSW 15 12,375,114 (GRCm39) missense
R9515:Pdzd2 UTSW 15 12,374,621 (GRCm39) missense probably damaging 1.00
R9592:Pdzd2 UTSW 15 12,458,106 (GRCm39) missense probably damaging 1.00
R9614:Pdzd2 UTSW 15 12,375,486 (GRCm39) missense probably damaging 1.00
R9630:Pdzd2 UTSW 15 12,374,443 (GRCm39) missense probably benign 0.37
R9776:Pdzd2 UTSW 15 12,457,909 (GRCm39) missense probably benign 0.03
X0057:Pdzd2 UTSW 15 12,411,113 (GRCm39) missense probably damaging 1.00
X0063:Pdzd2 UTSW 15 12,368,805 (GRCm39) missense possibly damaging 0.77
X0066:Pdzd2 UTSW 15 12,372,942 (GRCm39) missense probably benign 0.00
Predicted Primers PCR Primer
(F):5'- GCCTGTGGTTTCCAGTTTCAAC -3'
(R):5'- CAGGTTGATTTCCATCAGCTGC -3'

Sequencing Primer
(F):5'- CAGAAGTTTCCAGAATGTGCTG -3'
(R):5'- CTGCTGGTACCCGGGTG -3'
Posted On 2019-06-26