Incidental Mutation 'R7014:Pdzd2'
ID 545214
Institutional Source Beutler Lab
Gene Symbol Pdzd2
Ensembl Gene ENSMUSG00000022197
Gene Name PDZ domain containing 2
Synonyms Gm21706, A930022H17Rik, Pdzk3, 4930537L06Rik, LOC223364
MMRRC Submission 045115-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.117) question?
Stock # R7014 (G1)
Quality Score 225.009
Status Validated
Chromosome 15
Chromosomal Location 12359797-12740010 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 12372647 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Serine at position 2496 (N2496S)
Ref Sequence ENSEMBL: ENSMUSP00000074788 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000075317]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000075317
AA Change: N2496S

PolyPhen 2 Score 0.129 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000074788
Gene: ENSMUSG00000022197
AA Change: N2496S

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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.2%
Validation Efficiency 99% (80/81)
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: 79 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2310022A10Rik C T 7: 27,278,198 (GRCm39) Q156* probably null Het
2700097O09Rik A G 12: 55,092,727 (GRCm39) I264T probably benign Het
Arid3a G T 10: 79,786,718 (GRCm39) M488I possibly damaging Het
Auts2 A G 5: 131,494,961 (GRCm39) F331S probably damaging Het
Axdnd1 T C 1: 156,158,532 (GRCm39) probably null Het
Bpifb5 C A 2: 154,066,876 (GRCm39) S43* probably null Het
Carhsp1 A G 16: 8,478,869 (GRCm39) V128A probably benign Het
Ccdc141 A G 2: 76,962,641 (GRCm39) V101A probably damaging Het
Cdk6 C G 5: 3,523,152 (GRCm39) L191V probably damaging Het
Cgnl1 T G 9: 71,632,416 (GRCm39) K312Q possibly damaging Het
Col6a1 T C 10: 76,557,277 (GRCm39) E225G probably damaging Het
Copg1 T A 6: 87,879,322 (GRCm39) L456Q probably damaging Het
Ctif T A 18: 75,570,279 (GRCm39) D540V possibly damaging Het
Cyfip1 T C 7: 55,569,241 (GRCm39) I917T probably benign Het
Cyth1 T C 11: 118,103,477 (GRCm39) D9G probably benign Het
Dnajb1 T C 8: 84,336,884 (GRCm39) I118T probably damaging Het
Ebna1bp2 T A 4: 118,480,575 (GRCm39) Y139* probably null Het
Efcab3 A G 11: 104,584,248 (GRCm39) T100A probably benign Het
Fam162a A T 16: 35,870,302 (GRCm39) V59E probably damaging Het
Fhad1 CGG CG 4: 141,645,602 (GRCm39) probably null Het
Fmo6 C G 1: 162,753,877 (GRCm39) R112T probably benign Het
Gm17087 T A 17: 8,785,304 (GRCm39) D133V probably benign Het
Gm42669 A G 5: 107,656,142 (GRCm39) I802V probably benign Het
Gp2 T C 7: 119,050,868 (GRCm39) N288D probably damaging Het
Gstm7 C T 3: 107,834,278 (GRCm39) D196N probably benign Het
Hsph1 A T 5: 149,553,865 (GRCm39) V201D probably damaging Het
Il20ra T C 10: 19,588,458 (GRCm39) L26P unknown Het
Itpr1 T A 6: 108,408,459 (GRCm39) probably null Het
Kcns3 A T 12: 11,141,688 (GRCm39) I337N probably damaging Het
Kdm4d A G 9: 14,375,475 (GRCm39) Y128H probably damaging Het
Kirrel2 A G 7: 30,153,999 (GRCm39) I200T probably benign Het
Klhdc10 T A 6: 30,450,502 (GRCm39) I294N probably damaging Het
Map1a A C 2: 121,130,720 (GRCm39) N512T probably damaging Het
Marchf8 C G 6: 116,380,504 (GRCm39) C118W probably damaging Het
Marchf8 T G 6: 116,380,505 (GRCm39) C119G probably damaging Het
Mrpl38 G T 11: 116,025,741 (GRCm39) P195Q probably damaging Het
Ms4a4d A T 19: 11,525,947 (GRCm39) Q27L probably benign Het
Muc16 T A 9: 18,569,532 (GRCm39) T996S unknown Het
Mug1 C T 6: 121,838,084 (GRCm39) A438V probably benign Het
Mup7 T A 4: 60,069,866 (GRCm39) I33F probably damaging Het
Ndufa5 C T 6: 24,519,190 (GRCm39) probably null Het
Or2b7 A G 13: 21,740,108 (GRCm39) F28S probably benign Het
Or2l5 A T 16: 19,334,206 (GRCm39) F60Y probably benign Het
Or5w17 T C 2: 87,584,215 (GRCm39) I41V probably benign Het
Or5w1b A T 2: 87,476,320 (GRCm39) L49Q probably damaging Het
Or7e177 T A 9: 20,211,959 (GRCm39) C154* probably null Het
Parp9 T A 16: 35,780,433 (GRCm39) probably null Het
Pate8 C A 9: 36,493,854 (GRCm39) W26C unknown Het
Pbx1 T A 1: 168,258,949 (GRCm39) D42V probably damaging Het
Pde4dip G T 3: 97,622,738 (GRCm39) N1490K possibly damaging Het
Pglyrp2 C A 17: 32,634,904 (GRCm39) C486F probably damaging Het
Pi4ka A G 16: 17,114,931 (GRCm39) probably benign Het
Pknox2 T A 9: 36,820,963 (GRCm39) T300S probably damaging Het
Plekhm3 A G 1: 64,922,429 (GRCm39) I582T probably damaging Het
Prtg T C 9: 72,799,267 (GRCm39) Y766H possibly damaging Het
Prxl2a T C 14: 40,724,451 (GRCm39) E71G probably benign Het
Rabgap1 A G 2: 37,450,575 (GRCm39) E901G probably benign Het
Rabgap1l A T 1: 160,169,642 (GRCm39) N60K probably damaging Het
Rnf150 C T 8: 83,769,292 (GRCm39) T359I probably benign Het
Rps6ka2 C T 17: 7,523,331 (GRCm39) H236Y probably benign Het
Rrp1b T A 17: 32,268,401 (GRCm39) L120Q probably damaging Het
Scn7a C A 2: 66,572,303 (GRCm39) G223C probably null Het
Sema6a T A 18: 47,431,284 (GRCm39) N138I probably damaging Het
Septin5 T A 16: 18,443,659 (GRCm39) I97F probably damaging Het
Shcbp1 T A 8: 4,804,234 (GRCm39) E225D probably damaging Het
Slc25a19 A G 11: 115,511,792 (GRCm39) C124R probably damaging Het
Slc37a2 C T 9: 37,145,183 (GRCm39) A428T probably damaging Het
Slc5a12 A G 2: 110,474,709 (GRCm39) I538V probably benign Het
Slco4c1 A T 1: 96,751,506 (GRCm39) probably null Het
Smarcad1 T C 6: 65,029,654 (GRCm39) S81P probably damaging Het
Smyd1 T C 6: 71,215,611 (GRCm39) D116G probably damaging Het
Themis T C 10: 28,665,703 (GRCm39) Y589H probably benign Het
Trim30d T C 7: 104,132,543 (GRCm39) K248R probably benign Het
Tspan12 C T 6: 21,772,918 (GRCm39) M210I probably benign Het
Vmn2r11 T C 5: 109,201,289 (GRCm39) Y405C probably damaging Het
Wdfy3 A G 5: 102,042,775 (GRCm39) probably null Het
Wiz C A 17: 32,580,840 (GRCm39) A83S probably damaging Het
Zfp1002 A T 2: 150,097,182 (GRCm39) C82* probably null Het
Zmym6 T A 4: 127,017,337 (GRCm39) Y947* probably null 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
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
R7322:Pdzd2 UTSW 15 12,437,248 (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'- GGCTTCCAGGACTGATACTGAC -3'
(R):5'- TGTGTAGTGGCGAGGACTAC -3'

Sequencing Primer
(F):5'- CATTGGTGGAATCGACTCAGC -3'
(R):5'- TAGTGGCGAGGACTACTCTGC -3'
Posted On 2019-05-13