Incidental Mutation 'R9623:Pidd1'
ID 724968
Institutional Source Beutler Lab
Gene Symbol Pidd1
Ensembl Gene ENSMUSG00000025507
Gene Name p53 induced death domain protein 1
Synonyms Lrdd, Pidd, 1200011D09Rik
MMRRC Submission
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R9623 (G1)
Quality Score 225.009
Status Not validated
Chromosome 7
Chromosomal Location 141018026-141023938 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 141021678 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Proline to Serine at position 261 (P261S)
Ref Sequence ENSEMBL: ENSMUSP00000101627 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000019226] [ENSMUST00000026580] [ENSMUST00000106005] [ENSMUST00000106006] [ENSMUST00000124266] [ENSMUST00000128703] [ENSMUST00000172654] [ENSMUST00000190068] [ENSMUST00000190882] [ENSMUST00000201710] [ENSMUST00000201822]
AlphaFold Q9ERV7
Predicted Effect probably benign
Transcript: ENSMUST00000019226
SMART Domains Protein: ENSMUSP00000019226
Gene: ENSMUSG00000019082

DomainStartEndE-ValueType
Pfam:Mito_carr 4 98 8.1e-26 PFAM
Pfam:Mito_carr 99 217 8.6e-19 PFAM
Pfam:Mito_carr 221 310 7.4e-21 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000026580
AA Change: P261S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000026580
Gene: ENSMUSG00000025507
AA Change: P261S

DomainStartEndE-ValueType
low complexity region 9 27 N/A INTRINSIC
LRR 129 150 1.66e1 SMART
LRR 152 174 9.48e0 SMART
LRR 175 197 1.81e1 SMART
LRR 198 220 5.56e0 SMART
LRR 221 243 8.67e-1 SMART
LRR 244 266 7.57e0 SMART
LRR 267 290 6.13e-1 SMART
low complexity region 303 311 N/A INTRINSIC
low complexity region 406 419 N/A INTRINSIC
Pfam:Peptidase_S68 426 459 3.5e-26 PFAM
Pfam:ZU5 463 551 5e-9 PFAM
low complexity region 563 574 N/A INTRINSIC
low complexity region 734 744 N/A INTRINSIC
DEATH 783 878 8.31e-11 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000106005
AA Change: P261S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000101627
Gene: ENSMUSG00000025507
AA Change: P261S

DomainStartEndE-ValueType
low complexity region 9 27 N/A INTRINSIC
LRR 129 150 1.66e1 SMART
LRR 152 174 9.48e0 SMART
LRR 175 197 1.81e1 SMART
LRR 198 220 5.56e0 SMART
LRR 221 243 8.67e-1 SMART
LRR 244 266 7.57e0 SMART
LRR 267 290 6.13e-1 SMART
low complexity region 303 311 N/A INTRINSIC
Pfam:ZU5 328 422 6.6e-11 PFAM
Pfam:Peptidase_S68 426 458 5.2e-21 PFAM
Pfam:ZU5 463 546 6.5e-9 PFAM
low complexity region 563 574 N/A INTRINSIC
low complexity region 734 744 N/A INTRINSIC
DEATH 783 878 8.31e-11 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000106006
SMART Domains Protein: ENSMUSP00000101628
Gene: ENSMUSG00000019082

DomainStartEndE-ValueType
Pfam:Mito_carr 4 98 2.8e-26 PFAM
Pfam:Mito_carr 99 137 5.6e-8 PFAM
Pfam:Mito_carr 134 216 2.5e-18 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000124266
SMART Domains Protein: ENSMUSP00000122177
Gene: ENSMUSG00000019082

DomainStartEndE-ValueType
Pfam:Mito_carr 4 98 2.7e-27 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000128703
AA Change: P261S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000139487
Gene: ENSMUSG00000025507
AA Change: P261S

DomainStartEndE-ValueType
low complexity region 9 27 N/A INTRINSIC
LRR 129 148 3.5e-1 SMART
LRR 152 171 1.4e-1 SMART
LRR 175 194 3.9e-2 SMART
LRR 198 217 8.7e-1 SMART
LRR 221 240 9.6e-2 SMART
LRR 244 266 3.1e-2 SMART
LRR 267 286 1.3e-1 SMART
low complexity region 303 311 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000172654
SMART Domains Protein: ENSMUSP00000133928
Gene: ENSMUSG00000019082

DomainStartEndE-ValueType
Pfam:Mito_carr 1 54 6.2e-12 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000190068
SMART Domains Protein: ENSMUSP00000139957
Gene: ENSMUSG00000025507

DomainStartEndE-ValueType
low complexity region 9 27 N/A INTRINSIC
LRR 129 148 3.5e-1 SMART
LRR 152 171 1.4e-1 SMART
LRR 175 194 3.9e-2 SMART
LRR 198 217 8.7e-1 SMART
LRR 221 240 9.6e-2 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000190882
SMART Domains Protein: ENSMUSP00000139785
Gene: ENSMUSG00000025507

DomainStartEndE-ValueType
low complexity region 9 27 N/A INTRINSIC
LRR 129 148 3.5e-1 SMART
LRR 152 171 1.4e-1 SMART
LRR 175 194 3.9e-2 SMART
LRR 198 217 8.7e-1 SMART
LRR_TYP 221 244 3.7e-4 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000201710
SMART Domains Protein: ENSMUSP00000144231
Gene: ENSMUSG00000019082

DomainStartEndE-ValueType
Pfam:Mito_carr 4 98 1.7e-26 PFAM
Pfam:Mito_carr 99 217 2.3e-18 PFAM
Pfam:Mito_carr 221 311 5.7e-20 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000201822
SMART Domains Protein: ENSMUSP00000144213
Gene: ENSMUSG00000019082

DomainStartEndE-ValueType
Pfam:Mito_carr 4 70 1.2e-18 PFAM
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 a leucine-rich repeat and a death domain. This protein has been shown to interact with other death domain proteins, such as Fas (TNFRSF6)-associated via death domain (FADD) and MAP-kinase activating death domain-containing protein (MADD), and thus may function as an adaptor protein in cell death-related signaling processes. The expression of the mouse counterpart of this gene has been found to be positively regulated by the tumor suppressor p53 and to induce cell apoptosis in response to DNA damage, which suggests a role for this gene as an effector of p53-dependent apoptosis. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2010]
PHENOTYPE: Mice homozygous for a null allele were viable and did not show fertility problems, gender bias, other overt phenotype, or any gross abnormalities in histological assessment. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 93 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acsm2 A T 7: 119,181,975 (GRCm39) Y408F probably benign Het
Adamts9 G T 6: 92,857,661 (GRCm39) P876T probably benign Het
Afap1l2 T A 19: 56,906,462 (GRCm39) D479V probably damaging Het
Aire T C 10: 77,873,809 (GRCm39) E300G probably damaging Het
Ampd3 A G 7: 110,402,307 (GRCm39) E428G probably damaging Het
Apaf1 A T 10: 90,913,463 (GRCm39) Y153* probably null Het
Arhgap10 T C 8: 77,985,786 (GRCm39) T694A probably benign Het
Arhgef39 A G 4: 43,496,819 (GRCm39) probably null Het
Arhgef5 T C 6: 43,251,736 (GRCm39) V829A possibly damaging Het
Arrdc4 A G 7: 68,390,741 (GRCm39) M333T Het
Boc G T 16: 44,322,018 (GRCm39) R215S Het
Capn2 G A 1: 182,344,795 (GRCm39) A42V probably benign Het
Ccdc136 T A 6: 29,405,939 (GRCm39) M95K probably benign Het
Ccdc183 A T 2: 25,499,520 (GRCm39) Y438N probably benign Het
Ccnf C A 17: 24,468,367 (GRCm39) R10M probably damaging Het
Cd19 A G 7: 126,011,284 (GRCm39) F300S probably damaging Het
Cdkl3 G T 11: 51,895,816 (GRCm39) C21F probably damaging Het
Celf2 C T 2: 6,620,522 (GRCm39) R183Q probably damaging Het
Clca3a1 T G 3: 144,719,698 (GRCm39) D424A probably benign Het
Clec3a A G 8: 115,144,887 (GRCm39) D21G probably benign Het
Clec4e T C 6: 123,263,306 (GRCm39) N78S probably benign Het
Clpb A T 7: 101,313,399 (GRCm39) S128C possibly damaging Het
Cntnap5a T A 1: 116,369,985 (GRCm39) Y867* probably null Het
Dgkg G C 16: 22,385,194 (GRCm39) N437K Het
Dnhd1 A G 7: 105,335,773 (GRCm39) E1139G probably damaging Het
Dnhd1 G A 7: 105,344,134 (GRCm39) R1826H probably damaging Het
Etl4 A G 2: 20,811,052 (GRCm39) H1413R Het
Fibp T A 19: 5,513,850 (GRCm39) V271D possibly damaging Het
Gabra4 G T 5: 71,791,023 (GRCm39) T273K probably damaging Het
Gan G A 8: 117,914,219 (GRCm39) D206N probably damaging Het
Gstz1 A T 12: 87,206,923 (GRCm39) I106F probably damaging Het
Hivep2 T G 10: 14,006,546 (GRCm39) L1048R probably damaging Het
Htr6 A T 4: 138,801,750 (GRCm39) M108K probably damaging Het
Hycc1 A C 5: 24,170,255 (GRCm39) S365A probably benign Het
Itgad A G 7: 127,803,723 (GRCm39) E1134G probably damaging Het
Lrp1b C T 2: 41,366,648 (GRCm39) G657S Het
Lrp2 T C 2: 69,307,423 (GRCm39) I2879V probably benign Het
Lyst G T 13: 13,852,587 (GRCm39) V2196L probably benign Het
Mettl5 T A 2: 69,711,717 (GRCm39) I50F possibly damaging Het
Mmadhc A G 2: 50,186,341 (GRCm39) probably benign Het
Msantd1 G A 5: 35,075,076 (GRCm39) W46* probably null Het
Mto1 T C 9: 78,364,712 (GRCm39) I317T probably damaging Het
Myef2 T G 2: 124,957,377 (GRCm39) D126A probably damaging Het
Net1 A G 13: 3,937,569 (GRCm39) probably null Het
Nnmt A T 9: 48,503,660 (GRCm39) M122K probably benign Het
Nos1 A G 5: 118,087,849 (GRCm39) K1371E probably benign Het
Nrcam G C 12: 44,636,931 (GRCm39) W1121C probably damaging Het
Nt5c2 A G 19: 46,877,409 (GRCm39) S511P Het
Or10w1 C A 19: 13,632,414 (GRCm39) A207E probably damaging Het
Or1j17 G T 2: 36,578,778 (GRCm39) V255F probably benign Het
Or2k2 T C 4: 58,785,585 (GRCm39) I46V possibly damaging Het
Or4a73 A G 2: 89,421,261 (GRCm39) F66S probably benign Het
P2rx7 A G 5: 122,790,860 (GRCm39) K66E probably damaging Het
Paqr4 A G 17: 23,956,656 (GRCm39) W236R probably damaging Het
Parm1 A G 5: 91,760,923 (GRCm39) Y265C probably damaging Het
Pcbp2 T C 15: 102,392,628 (GRCm39) Y178H probably damaging Het
Pik3r6 T C 11: 68,442,159 (GRCm39) V705A possibly damaging Het
Pla2g15 G T 8: 106,887,275 (GRCm39) V156F possibly damaging Het
Prpf6 G A 2: 181,289,137 (GRCm39) V609M possibly damaging Het
Resf1 A G 6: 149,226,965 (GRCm39) N4D possibly damaging Het
Rprd2 A G 3: 95,679,505 (GRCm39) V491A probably benign Het
Rtp3 T A 9: 110,818,600 (GRCm39) H27L probably damaging Het
Sema5b G A 16: 35,443,121 (GRCm39) R42Q possibly damaging Het
Serpina3f A G 12: 104,183,743 (GRCm39) K202E probably damaging Het
Slc25a33 T G 4: 149,833,767 (GRCm39) M168L probably benign Het
Slc7a8 A G 14: 54,964,341 (GRCm39) C371R probably damaging Het
Smyd1 T C 6: 71,192,808 (GRCm39) N467S probably benign Het
Sptbn4 A G 7: 27,107,807 (GRCm39) W872R probably damaging Het
Syne1 A T 10: 5,152,009 (GRCm39) I5766N probably damaging Het
Syne2 A G 12: 75,986,760 (GRCm39) S1699G probably benign Het
Synpo2 T C 3: 122,908,047 (GRCm39) D423G possibly damaging Het
Tcf19 A T 17: 35,825,792 (GRCm39) F122I probably damaging Het
Tdpoz4 A T 3: 93,704,221 (GRCm39) T173S probably benign Het
Trappc8 T A 18: 20,983,975 (GRCm39) H681L possibly damaging Het
Trim36 A G 18: 46,308,623 (GRCm39) F413S probably benign Het
Tsks A G 7: 44,605,931 (GRCm39) T466A possibly damaging Het
Ubr1 T C 2: 120,764,820 (GRCm39) I545V probably benign Het
Ubr4 A G 4: 139,159,024 (GRCm39) E1170G probably benign Het
Usp29 A G 7: 6,964,396 (GRCm39) R80G possibly damaging Het
Utrn C T 10: 12,282,225 (GRCm39) R3258H probably damaging Het
Vmn1r13 T G 6: 57,187,549 (GRCm39) V236G probably benign Het
Vmn1r33 T A 6: 66,589,002 (GRCm39) D184V probably damaging Het
Vmn2r87 T C 10: 130,315,794 (GRCm39) N91D probably damaging Het
Wrn A G 8: 33,774,644 (GRCm39) probably null Het
Zan G A 5: 137,461,636 (GRCm39) P1181L unknown Het
Zbtb47 C A 9: 121,591,990 (GRCm39) Y103* probably null Het
Zfc3h1 C A 10: 115,259,362 (GRCm39) L1645I possibly damaging Het
Zfhx2 G T 14: 55,302,191 (GRCm39) P1931Q probably damaging Het
Zfp352 A G 4: 90,113,128 (GRCm39) K423E probably benign Het
Zfp574 T A 7: 24,780,515 (GRCm39) H512Q Het
Zfp7 G A 15: 76,774,531 (GRCm39) R191H probably benign Het
Zfp771 A T 7: 126,844,301 (GRCm39) K46* probably null Het
Zkscan8 T C 13: 21,704,763 (GRCm39) E392G probably damaging Het
Other mutations in Pidd1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02751:Pidd1 APN 7 141,019,076 (GRCm39) missense possibly damaging 0.93
IGL02794:Pidd1 APN 7 141,023,021 (GRCm39) missense probably benign 0.00
IGL03083:Pidd1 APN 7 141,020,369 (GRCm39) critical splice donor site probably null
IGL03347:Pidd1 APN 7 141,019,081 (GRCm39) missense probably damaging 0.97
R0329:Pidd1 UTSW 7 141,019,474 (GRCm39) unclassified probably benign
R0426:Pidd1 UTSW 7 141,019,046 (GRCm39) missense probably damaging 1.00
R0650:Pidd1 UTSW 7 141,020,726 (GRCm39) nonsense probably null
R0651:Pidd1 UTSW 7 141,020,726 (GRCm39) nonsense probably null
R1201:Pidd1 UTSW 7 141,020,187 (GRCm39) missense probably benign
R1221:Pidd1 UTSW 7 141,018,725 (GRCm39) missense probably damaging 1.00
R1613:Pidd1 UTSW 7 141,020,690 (GRCm39) missense probably damaging 1.00
R1763:Pidd1 UTSW 7 141,019,543 (GRCm39) missense probably benign
R3967:Pidd1 UTSW 7 141,018,995 (GRCm39) missense possibly damaging 0.86
R4072:Pidd1 UTSW 7 141,020,739 (GRCm39) missense probably damaging 1.00
R4073:Pidd1 UTSW 7 141,020,739 (GRCm39) missense probably damaging 1.00
R4075:Pidd1 UTSW 7 141,020,739 (GRCm39) missense probably damaging 1.00
R4076:Pidd1 UTSW 7 141,020,739 (GRCm39) missense probably damaging 1.00
R4157:Pidd1 UTSW 7 141,021,279 (GRCm39) missense possibly damaging 0.87
R4501:Pidd1 UTSW 7 141,021,356 (GRCm39) unclassified probably benign
R4700:Pidd1 UTSW 7 141,022,162 (GRCm39) missense probably damaging 1.00
R4797:Pidd1 UTSW 7 141,022,899 (GRCm39) missense possibly damaging 0.92
R4985:Pidd1 UTSW 7 141,018,504 (GRCm39) makesense probably null
R5402:Pidd1 UTSW 7 141,018,507 (GRCm39) missense probably damaging 1.00
R5684:Pidd1 UTSW 7 141,021,024 (GRCm39) splice site probably null
R5790:Pidd1 UTSW 7 141,021,305 (GRCm39) unclassified probably benign
R5909:Pidd1 UTSW 7 141,021,183 (GRCm39) missense probably damaging 1.00
R6275:Pidd1 UTSW 7 141,019,708 (GRCm39) missense probably damaging 1.00
R6582:Pidd1 UTSW 7 141,019,494 (GRCm39) missense probably damaging 1.00
R6814:Pidd1 UTSW 7 141,019,331 (GRCm39) missense probably benign 0.34
R6872:Pidd1 UTSW 7 141,019,331 (GRCm39) missense probably benign 0.34
R6935:Pidd1 UTSW 7 141,020,215 (GRCm39) missense probably damaging 1.00
R7088:Pidd1 UTSW 7 141,020,400 (GRCm39) missense probably damaging 1.00
R7133:Pidd1 UTSW 7 141,019,813 (GRCm39) missense probably benign 0.05
R7544:Pidd1 UTSW 7 141,020,252 (GRCm39) missense possibly damaging 0.81
R7821:Pidd1 UTSW 7 141,022,193 (GRCm39) missense probably benign 0.36
R7861:Pidd1 UTSW 7 141,020,055 (GRCm39) missense probably damaging 1.00
R7903:Pidd1 UTSW 7 141,019,744 (GRCm39) missense probably damaging 0.99
R8218:Pidd1 UTSW 7 141,019,566 (GRCm39) missense probably damaging 1.00
Z1176:Pidd1 UTSW 7 141,020,274 (GRCm39) missense probably benign 0.03
Z1177:Pidd1 UTSW 7 141,020,929 (GRCm39) missense probably damaging 1.00
Z1177:Pidd1 UTSW 7 141,018,609 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- CTCTCACAGCCTGGCTATAC -3'
(R):5'- ACCTTCACTGCTTCCAGATG -3'

Sequencing Primer
(F):5'- AGCCTGGCTATACCCCATG -3'
(R):5'- ACCTCTTGGTTGCCTATAATTCACG -3'
Posted On 2022-09-12