Incidental Mutation 'R9592:Pdzd2'
ID 723062
Institutional Source Beutler Lab
Gene Symbol Pdzd2
Ensembl Gene ENSMUSG00000022197
Gene Name PDZ domain containing 2
Synonyms Gm21706, A930022H17Rik, Pdzk3, 4930537L06Rik, LOC223364
MMRRC Submission
Accession Numbers
Essential gene? Probably non essential (E-score: 0.117) question?
Stock # R9592 (G1)
Quality Score 225.009
Status Not validated
Chromosome 15
Chromosomal Location 12359797-12740010 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to C at 12458106 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Lysine at position 78 (N78K)
Ref Sequence ENSEMBL: ENSMUSP00000140682 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000075317] [ENSMUST00000186113] [ENSMUST00000189324] [ENSMUST00000190929]
AlphaFold no structure available at present
Predicted Effect
SMART Domains Protein: ENSMUSP00000074788
Gene: ENSMUSG00000022197
AA Change: N252K

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: ENSMUST00000186113
Predicted Effect probably benign
Transcript: ENSMUST00000189324
Predicted Effect probably damaging
Transcript: ENSMUST00000190929
AA Change: N78K

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000140682
Gene: ENSMUSG00000022197
AA Change: N78K

DomainStartEndE-ValueType
PDZ 168 245 3e-20 SMART
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.8%
  • 20x: 99.3%
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: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aasdhppt G T 9: 4,309,312 (GRCm39) P42Q probably benign Het
Adat1 G T 8: 112,709,314 (GRCm39) P170T probably benign Het
Ap4e1 A G 2: 126,903,588 (GRCm39) D830G probably benign Het
Apc T A 18: 34,443,823 (GRCm39) C605* probably null Het
Atp2b4 A G 1: 133,659,568 (GRCm39) S465P probably damaging Het
Bnip3l G A 14: 67,246,214 (GRCm39) P7L possibly damaging Het
Cdhr3 A G 12: 33,136,007 (GRCm39) S78P possibly damaging Het
Ckap4 G A 10: 84,364,175 (GRCm39) T296M probably damaging Het
Cyp11a1 G A 9: 57,925,605 (GRCm39) R182H possibly damaging Het
Fem1b A T 9: 62,704,959 (GRCm39) H100Q probably damaging Het
Gm5464 T A 14: 67,106,366 (GRCm39) M1K probably null Het
Igkv12-41 G A 6: 69,835,579 (GRCm39) Q58* probably null Het
Kcnq2 T C 2: 180,728,813 (GRCm39) Y572C probably damaging Het
Krt87 T C 15: 101,386,060 (GRCm39) T234A probably benign Het
Ksr2 G A 5: 117,894,344 (GRCm39) G828S probably damaging Het
Megf8 C T 7: 25,028,228 (GRCm39) T264M probably benign Het
Myof A T 19: 38,031,737 (GRCm39) I12N probably damaging Het
Nsd1 T G 13: 55,424,355 (GRCm39) D1467E probably damaging Het
Nsrp1 A T 11: 76,940,104 (GRCm39) L167Q probably damaging Het
Nsun4 A T 4: 115,908,852 (GRCm39) H569Q possibly damaging Het
Or51q1 T C 7: 103,629,179 (GRCm39) V260A possibly damaging Het
Or5b105 A G 19: 13,079,906 (GRCm39) I254T probably benign Het
Pcdha7 A T 18: 37,109,045 (GRCm39) D690V probably benign Het
Pcdhb2 G A 18: 37,429,266 (GRCm39) R56Q probably damaging Het
Pcsk5 G T 19: 17,652,899 (GRCm39) Y262* probably null Het
Pglyrp3 T C 3: 91,938,859 (GRCm39) F345L probably benign Het
Pnp2 T A 14: 51,196,979 (GRCm39) Y22N probably damaging Het
Pnp2 C A 14: 51,196,981 (GRCm39) Y22* probably null Het
Prr27 C A 5: 87,990,994 (GRCm39) P202Q probably benign Het
Rmdn1 T C 4: 19,599,660 (GRCm39) M206T possibly damaging Het
Rnf166 A T 8: 123,197,048 (GRCm39) L68Q probably benign Het
Rsf1 CGGCGGCGG CGGCGGCGGGGGCGGCGG 7: 97,229,118 (GRCm39) probably benign Het
Scin C T 12: 40,131,746 (GRCm39) V263I probably benign Het
Secisbp2l C A 2: 125,582,561 (GRCm39) R965L probably damaging Het
Senp2 G A 16: 21,845,435 (GRCm39) R223Q possibly damaging Het
Siglecf C A 7: 43,001,696 (GRCm39) P169T probably damaging Het
Smpdl3b G A 4: 132,484,438 (GRCm39) probably benign Het
Syt2 G A 1: 134,671,773 (GRCm39) V184I possibly damaging Het
Tecta G T 9: 42,250,238 (GRCm39) N1851K probably damaging Het
Thbs2 A T 17: 14,899,083 (GRCm39) S672R probably damaging Het
Tmtc4 T C 14: 123,170,815 (GRCm39) H485R probably damaging Het
Tns1 A T 1: 74,029,553 (GRCm39) S307R probably damaging Het
Usp15 C A 10: 122,999,522 (GRCm39) W220L probably damaging Het
Zfp64 A T 2: 168,768,118 (GRCm39) V498E probably damaging Het
Zfp820 G T 17: 22,038,577 (GRCm39) S250R probably benign Het
Zfr2 A T 10: 81,069,580 (GRCm39) N2I unknown 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
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
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'- AAACGGCGTTTGTCATTGC -3'
(R):5'- CTACTTGATCATGCTGCGGC -3'

Sequencing Primer
(F):5'- CATTGCTGTCACTCAGAGGG -3'
(R):5'- GCCCACCTGACTTACAATGG -3'
Posted On 2022-08-09