Incidental Mutation 'IGL02511:Pard3'
ID 296573
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Pard3
Ensembl Gene ENSMUSG00000025812
Gene Name par-3 family cell polarity regulator
Synonyms Par3, Pard3a, ASIP, D8Ertd580e, PAR-3
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL02511
Quality Score
Status
Chromosome 8
Chromosomal Location 127790643-128338767 bp(+) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) A to T at 127888070 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000124319 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000026921] [ENSMUST00000079777] [ENSMUST00000159141] [ENSMUST00000159537] [ENSMUST00000159818] [ENSMUST00000160272] [ENSMUST00000162531] [ENSMUST00000162907] [ENSMUST00000160581] [ENSMUST00000160766] [ENSMUST00000162536] [ENSMUST00000162602] [ENSMUST00000162309] [ENSMUST00000161355]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000026921
SMART Domains Protein: ENSMUSP00000026921
Gene: ENSMUSG00000025812

DomainStartEndE-ValueType
Pfam:DUF3534 1 146 1.1e-72 PFAM
low complexity region 234 246 N/A INTRINSIC
PDZ 282 361 2.34e-6 SMART
low complexity region 431 440 N/A INTRINSIC
PDZ 469 548 4.1e-20 SMART
PDZ 599 684 9.87e-14 SMART
low complexity region 771 781 N/A INTRINSIC
PDB:4DC2|Z 810 837 3e-10 PDB
low complexity region 863 875 N/A INTRINSIC
low complexity region 892 902 N/A INTRINSIC
low complexity region 921 950 N/A INTRINSIC
low complexity region 965 1005 N/A INTRINSIC
low complexity region 1162 1200 N/A INTRINSIC
low complexity region 1264 1281 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000079777
SMART Domains Protein: ENSMUSP00000078710
Gene: ENSMUSG00000025812

DomainStartEndE-ValueType
low complexity region 99 111 N/A INTRINSIC
PDZ 147 226 2.34e-6 SMART
low complexity region 296 305 N/A INTRINSIC
PDZ 334 413 4.1e-20 SMART
PDZ 464 549 9.87e-14 SMART
low complexity region 636 646 N/A INTRINSIC
PDB:4DC2|Z 675 702 2e-10 PDB
low complexity region 743 755 N/A INTRINSIC
low complexity region 772 782 N/A INTRINSIC
low complexity region 801 830 N/A INTRINSIC
low complexity region 845 885 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000159141
SMART Domains Protein: ENSMUSP00000124733
Gene: ENSMUSG00000025812

DomainStartEndE-ValueType
Pfam:DUF3534 1 54 1.5e-16 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000159537
SMART Domains Protein: ENSMUSP00000124934
Gene: ENSMUSG00000025812

DomainStartEndE-ValueType
Pfam:DUF3534 1 146 6.7e-73 PFAM
PDZ 238 317 2.34e-6 SMART
low complexity region 387 396 N/A INTRINSIC
PDZ 425 504 4.1e-20 SMART
PDZ 542 627 9.87e-14 SMART
low complexity region 717 727 N/A INTRINSIC
PDB:4DC2|Z 756 783 2e-10 PDB
low complexity region 823 835 N/A INTRINSIC
low complexity region 852 862 N/A INTRINSIC
low complexity region 881 910 N/A INTRINSIC
low complexity region 925 943 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000159818
Predicted Effect probably benign
Transcript: ENSMUST00000160272
SMART Domains Protein: ENSMUSP00000125453
Gene: ENSMUSG00000025812

DomainStartEndE-ValueType
Pfam:DUF3534 1 146 1.7e-60 PFAM
low complexity region 234 246 N/A INTRINSIC
PDZ 282 361 2.34e-6 SMART
low complexity region 431 440 N/A INTRINSIC
PDZ 469 548 4.1e-20 SMART
PDZ 599 684 9.87e-14 SMART
low complexity region 771 781 N/A INTRINSIC
PDB:4DC2|Z 810 837 4e-10 PDB
low complexity region 878 890 N/A INTRINSIC
low complexity region 907 917 N/A INTRINSIC
low complexity region 936 965 N/A INTRINSIC
low complexity region 980 1020 N/A INTRINSIC
low complexity region 1177 1215 N/A INTRINSIC
low complexity region 1279 1296 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000162531
SMART Domains Protein: ENSMUSP00000125610
Gene: ENSMUSG00000025812

DomainStartEndE-ValueType
Pfam:DUF3534 1 146 8.4e-73 PFAM
low complexity region 234 246 N/A INTRINSIC
PDZ 282 361 2.34e-6 SMART
low complexity region 431 440 N/A INTRINSIC
PDZ 469 548 4.1e-20 SMART
PDZ 586 671 9.87e-14 SMART
low complexity region 761 771 N/A INTRINSIC
low complexity region 838 850 N/A INTRINSIC
low complexity region 867 877 N/A INTRINSIC
low complexity region 896 925 N/A INTRINSIC
low complexity region 940 980 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000162907
SMART Domains Protein: ENSMUSP00000124319
Gene: ENSMUSG00000025812

DomainStartEndE-ValueType
Pfam:DUF3534 1 146 4.6e-73 PFAM
low complexity region 234 246 N/A INTRINSIC
PDZ 282 361 2.34e-6 SMART
low complexity region 431 440 N/A INTRINSIC
PDZ 469 548 4.1e-20 SMART
PDZ 599 684 9.87e-14 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000161277
SMART Domains Protein: ENSMUSP00000124789
Gene: ENSMUSG00000025812

DomainStartEndE-ValueType
Pfam:DUF3534 3 122 9.6e-37 PFAM
PDZ 214 293 2.34e-6 SMART
low complexity region 363 372 N/A INTRINSIC
PDZ 401 480 4.1e-20 SMART
PDZ 518 603 9.87e-14 SMART
low complexity region 693 703 N/A INTRINSIC
PDB:4DC2|Z 732 759 2e-10 PDB
low complexity region 799 811 N/A INTRINSIC
low complexity region 828 838 N/A INTRINSIC
low complexity region 857 886 N/A INTRINSIC
low complexity region 901 919 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000160581
SMART Domains Protein: ENSMUSP00000124141
Gene: ENSMUSG00000025812

DomainStartEndE-ValueType
Pfam:DUF3534 4 149 7.1e-73 PFAM
low complexity region 237 249 N/A INTRINSIC
PDZ 285 364 2.34e-6 SMART
low complexity region 434 443 N/A INTRINSIC
PDZ 472 551 4.1e-20 SMART
PDZ 589 674 9.87e-14 SMART
low complexity region 764 774 N/A INTRINSIC
low complexity region 841 853 N/A INTRINSIC
low complexity region 870 880 N/A INTRINSIC
low complexity region 899 928 N/A INTRINSIC
low complexity region 943 983 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000160766
SMART Domains Protein: ENSMUSP00000124533
Gene: ENSMUSG00000025812

DomainStartEndE-ValueType
Pfam:DUF3534 1 146 1e-72 PFAM
PDZ 238 317 2.34e-6 SMART
low complexity region 387 396 N/A INTRINSIC
PDZ 425 504 4.1e-20 SMART
PDZ 542 627 9.87e-14 SMART
low complexity region 714 724 N/A INTRINSIC
low complexity region 791 803 N/A INTRINSIC
low complexity region 820 830 N/A INTRINSIC
low complexity region 849 878 N/A INTRINSIC
low complexity region 893 933 N/A INTRINSIC
low complexity region 1090 1128 N/A INTRINSIC
low complexity region 1192 1209 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000162536
SMART Domains Protein: ENSMUSP00000125212
Gene: ENSMUSG00000025812

DomainStartEndE-ValueType
Pfam:DUF3534 1 146 1e-72 PFAM
PDZ 238 317 2.34e-6 SMART
low complexity region 387 396 N/A INTRINSIC
PDZ 425 504 4.1e-20 SMART
PDZ 555 640 9.87e-14 SMART
low complexity region 727 737 N/A INTRINSIC
PDB:4DC2|Z 766 793 3e-10 PDB
low complexity region 833 845 N/A INTRINSIC
low complexity region 862 872 N/A INTRINSIC
low complexity region 891 920 N/A INTRINSIC
low complexity region 935 975 N/A INTRINSIC
low complexity region 1132 1170 N/A INTRINSIC
low complexity region 1234 1251 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000162665
SMART Domains Protein: ENSMUSP00000124718
Gene: ENSMUSG00000025812

DomainStartEndE-ValueType
Pfam:DUF3534 21 166 1.4e-60 PFAM
low complexity region 254 266 N/A INTRINSIC
PDZ 302 381 2.34e-6 SMART
low complexity region 451 460 N/A INTRINSIC
PDZ 489 568 4.1e-20 SMART
PDZ 619 704 9.87e-14 SMART
low complexity region 791 801 N/A INTRINSIC
low complexity region 868 880 N/A INTRINSIC
low complexity region 897 907 N/A INTRINSIC
low complexity region 926 955 N/A INTRINSIC
low complexity region 970 1010 N/A INTRINSIC
low complexity region 1167 1205 N/A INTRINSIC
low complexity region 1269 1286 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000162602
SMART Domains Protein: ENSMUSP00000125450
Gene: ENSMUSG00000025812

DomainStartEndE-ValueType
Pfam:DUF3534 1 146 7.6e-73 PFAM
low complexity region 234 246 N/A INTRINSIC
PDZ 282 361 2.34e-6 SMART
low complexity region 431 440 N/A INTRINSIC
PDZ 469 548 4.1e-20 SMART
PDZ 599 684 9.87e-14 SMART
low complexity region 774 784 N/A INTRINSIC
PDB:4DC2|Z 813 840 2e-10 PDB
low complexity region 881 893 N/A INTRINSIC
low complexity region 910 920 N/A INTRINSIC
low complexity region 939 968 N/A INTRINSIC
low complexity region 983 1023 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000162309
SMART Domains Protein: ENSMUSP00000124282
Gene: ENSMUSG00000025812

DomainStartEndE-ValueType
Pfam:DUF3534 1 146 6.2e-73 PFAM
low complexity region 234 246 N/A INTRINSIC
PDZ 282 361 2.34e-6 SMART
low complexity region 431 440 N/A INTRINSIC
PDZ 469 548 4.1e-20 SMART
PDZ 599 684 9.87e-14 SMART
low complexity region 771 781 N/A INTRINSIC
PDB:4DC2|Z 810 837 4e-10 PDB
low complexity region 877 889 N/A INTRINSIC
low complexity region 906 916 N/A INTRINSIC
low complexity region 935 964 N/A INTRINSIC
low complexity region 979 1019 N/A INTRINSIC
low complexity region 1176 1214 N/A INTRINSIC
low complexity region 1278 1295 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000160593
Predicted Effect probably benign
Transcript: ENSMUST00000161355
SMART Domains Protein: ENSMUSP00000125064
Gene: ENSMUSG00000025812

DomainStartEndE-ValueType
Pfam:DUF3534 1 146 7.2e-73 PFAM
low complexity region 234 246 N/A INTRINSIC
PDZ 282 361 2.34e-6 SMART
low complexity region 431 440 N/A INTRINSIC
PDZ 469 548 4.1e-20 SMART
PDZ 599 684 9.87e-14 SMART
low complexity region 771 781 N/A INTRINSIC
low complexity region 847 859 N/A INTRINSIC
low complexity region 876 886 N/A INTRINSIC
low complexity region 905 934 N/A INTRINSIC
low complexity region 949 989 N/A INTRINSIC
Coding Region Coverage
Validation Efficiency
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 PARD protein family. PARD family members interact with other PARD family members and other proteins; they affect asymmetrical cell division and direct polarized cell growth. Multiple alternatively spliced transcript variants have been described for this gene. [provided by RefSeq, Oct 2011]
PHENOTYPE: Mice homozygous for a null allele exhibit embryonic lethality at E12.5 associated with growth retardation, abnormal heart development, and abnormal epicardial cell development. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Accsl A T 2: 93,692,111 (GRCm39) probably benign Het
Adam3 T A 8: 25,185,192 (GRCm39) D502V probably damaging Het
Adss2 T C 1: 177,598,700 (GRCm39) probably benign Het
Ankrd36 T A 11: 5,610,845 (GRCm39) probably null Het
Atf6b T C 17: 34,873,615 (GRCm39) S692P probably benign Het
Cap2 T C 13: 46,684,498 (GRCm39) M1T probably null Het
Cdc45 C T 16: 18,617,479 (GRCm39) M200I probably benign Het
Cntn1 A T 15: 92,114,266 (GRCm39) probably benign Het
Copg2 A T 6: 30,835,757 (GRCm39) F218Y probably benign Het
Dll4 G A 2: 119,156,947 (GRCm39) G73E probably damaging Het
Dzip3 T C 16: 48,757,343 (GRCm39) M897V possibly damaging Het
Ehbp1 T C 11: 22,039,653 (GRCm39) R816G probably damaging Het
Enoph1 T C 5: 100,208,894 (GRCm39) L83P probably benign Het
Enpep A G 3: 129,115,059 (GRCm39) S238P probably damaging Het
Fermt1 A C 2: 132,775,086 (GRCm39) probably benign Het
Gm6619 T A 6: 131,467,330 (GRCm39) I65K possibly damaging Het
Krtap31-2 T A 11: 99,827,518 (GRCm39) C117S possibly damaging Het
Ksr1 T C 11: 78,936,046 (GRCm39) D106G possibly damaging Het
Lgr4 A T 2: 109,841,617 (GRCm39) Y534F probably benign Het
Mamdc2 T C 19: 23,356,095 (GRCm39) T118A probably benign Het
Myo10 T A 15: 25,723,975 (GRCm39) I170N probably damaging Het
Myom2 T C 8: 15,115,743 (GRCm39) S53P probably benign Het
Npl T A 1: 153,391,227 (GRCm39) D176V probably damaging Het
Nrm T C 17: 36,172,316 (GRCm39) S14P probably damaging Het
Or5al7 A G 2: 85,992,363 (GRCm39) I310T probably benign Het
Or5p70 T A 7: 107,995,265 (GRCm39) F313I probably benign Het
Or5v1b A G 17: 37,840,870 (GRCm39) M1V probably null Het
Papola T A 12: 105,775,604 (GRCm39) C204S probably damaging Het
Pdzd4 T A X: 72,838,206 (GRCm39) M701L probably damaging Het
Pkhd1 A T 1: 20,143,731 (GRCm39) V3865E possibly damaging Het
Plxna3 C A X: 73,378,991 (GRCm39) Q712K probably damaging Het
Pon1 A G 6: 5,193,724 (GRCm39) L9P probably damaging Het
Pygm A T 19: 6,435,718 (GRCm39) I83F probably benign Het
Scyl2 A G 10: 89,476,681 (GRCm39) S815P probably benign Het
Serpina1a C T 12: 103,822,226 (GRCm39) W212* probably null Het
Slc38a9 C A 13: 112,834,541 (GRCm39) D239E possibly damaging Het
Smad6 A G 9: 63,860,859 (GRCm39) F479L probably damaging Het
Smarcc2 T C 10: 128,297,251 (GRCm39) S48P probably damaging Het
Ttn T A 2: 76,768,034 (GRCm39) M3022L unknown Het
Tulp1 C A 17: 28,575,142 (GRCm39) R441L probably benign Het
Ugt1a10 T C 1: 87,983,585 (GRCm39) F128L probably damaging Het
Ulk4 A G 9: 121,017,420 (GRCm39) V686A probably damaging Het
Ush2a T C 1: 188,475,884 (GRCm39) probably null Het
Ushbp1 T C 8: 71,843,581 (GRCm39) M286V probably null Het
Usp51 T G X: 151,791,726 (GRCm39) I440R probably damaging Het
Wee1 G T 7: 109,738,483 (GRCm39) R532L possibly damaging Het
Zfhx4 A G 3: 5,464,243 (GRCm39) E1467G probably damaging Het
Zfp13 C T 17: 23,795,072 (GRCm39) A493T probably benign Het
Zfp551 A G 7: 12,150,602 (GRCm39) V269A possibly damaging Het
Other mutations in Pard3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00161:Pard3 APN 8 128,086,299 (GRCm39) splice site probably benign
IGL00484:Pard3 APN 8 128,098,327 (GRCm39) missense probably benign 0.05
IGL00674:Pard3 APN 8 128,115,159 (GRCm39) missense probably damaging 1.00
IGL01471:Pard3 APN 8 128,104,727 (GRCm39) missense probably benign 0.01
IGL01505:Pard3 APN 8 128,050,544 (GRCm39) missense probably damaging 1.00
IGL02252:Pard3 APN 8 128,125,237 (GRCm39) missense probably benign 0.09
IGL02838:Pard3 APN 8 128,153,128 (GRCm39) missense probably damaging 0.99
IGL02948:Pard3 APN 8 128,032,975 (GRCm39) missense probably benign 0.00
IGL02987:Pard3 APN 8 128,115,972 (GRCm39) missense probably damaging 0.98
IGL03037:Pard3 APN 8 128,032,975 (GRCm39) missense probably benign 0.00
IGL03084:Pard3 APN 8 128,319,573 (GRCm39) missense probably damaging 0.96
BB001:Pard3 UTSW 8 128,137,231 (GRCm39) missense probably benign
BB011:Pard3 UTSW 8 128,137,231 (GRCm39) missense probably benign
R0025:Pard3 UTSW 8 127,888,058 (GRCm39) missense probably damaging 1.00
R0025:Pard3 UTSW 8 127,888,058 (GRCm39) missense probably damaging 1.00
R0029:Pard3 UTSW 8 128,153,239 (GRCm39) splice site probably benign
R0109:Pard3 UTSW 8 128,125,147 (GRCm39) missense probably damaging 1.00
R0309:Pard3 UTSW 8 128,103,378 (GRCm39) splice site probably benign
R0415:Pard3 UTSW 8 128,337,047 (GRCm39) missense probably damaging 1.00
R0507:Pard3 UTSW 8 128,097,967 (GRCm39) splice site probably benign
R1055:Pard3 UTSW 8 128,104,761 (GRCm39) missense probably benign 0.34
R1305:Pard3 UTSW 8 128,032,891 (GRCm39) missense possibly damaging 0.62
R1619:Pard3 UTSW 8 128,106,983 (GRCm39) missense probably benign 0.02
R1855:Pard3 UTSW 8 128,174,293 (GRCm39) splice site probably null
R2001:Pard3 UTSW 8 127,791,097 (GRCm39) splice site probably null
R2060:Pard3 UTSW 8 128,125,085 (GRCm39) missense probably benign 0.05
R2064:Pard3 UTSW 8 128,337,092 (GRCm39) missense probably damaging 1.00
R2113:Pard3 UTSW 8 128,115,018 (GRCm39) missense probably damaging 1.00
R2136:Pard3 UTSW 8 128,103,366 (GRCm39) critical splice donor site probably null
R2224:Pard3 UTSW 8 128,086,257 (GRCm39) missense probably damaging 1.00
R2252:Pard3 UTSW 8 128,337,080 (GRCm39) missense probably damaging 1.00
R3870:Pard3 UTSW 8 128,136,167 (GRCm39) missense probably damaging 1.00
R4154:Pard3 UTSW 8 128,200,877 (GRCm39) missense probably damaging 1.00
R4212:Pard3 UTSW 8 128,336,939 (GRCm39) missense probably benign 0.43
R4243:Pard3 UTSW 8 128,098,128 (GRCm39) missense probably benign 0.09
R4523:Pard3 UTSW 8 128,125,108 (GRCm39) missense probably benign 0.08
R4857:Pard3 UTSW 8 128,050,535 (GRCm39) missense probably damaging 0.98
R4876:Pard3 UTSW 8 128,287,950 (GRCm39) intron probably benign
R4877:Pard3 UTSW 8 128,115,018 (GRCm39) missense probably damaging 1.00
R5197:Pard3 UTSW 8 127,800,040 (GRCm39) splice site probably null
R5215:Pard3 UTSW 8 128,104,745 (GRCm39) missense probably damaging 1.00
R5279:Pard3 UTSW 8 128,186,867 (GRCm39) critical splice donor site probably null
R5349:Pard3 UTSW 8 128,142,224 (GRCm39) missense probably damaging 1.00
R5479:Pard3 UTSW 8 128,096,836 (GRCm39) missense probably damaging 1.00
R5514:Pard3 UTSW 8 128,153,086 (GRCm39) missense probably damaging 1.00
R5681:Pard3 UTSW 8 128,115,914 (GRCm39) missense possibly damaging 0.81
R5934:Pard3 UTSW 8 128,115,819 (GRCm39) missense probably damaging 1.00
R6034:Pard3 UTSW 8 127,791,077 (GRCm39) utr 5 prime probably benign
R6034:Pard3 UTSW 8 127,791,077 (GRCm39) utr 5 prime probably benign
R6187:Pard3 UTSW 8 127,800,023 (GRCm39) missense probably benign 0.00
R6382:Pard3 UTSW 8 128,103,264 (GRCm39) missense probably damaging 1.00
R6774:Pard3 UTSW 8 128,137,228 (GRCm39) missense probably damaging 0.98
R7130:Pard3 UTSW 8 128,142,164 (GRCm39) missense probably damaging 1.00
R7267:Pard3 UTSW 8 128,098,056 (GRCm39) missense probably damaging 0.97
R7358:Pard3 UTSW 8 128,319,573 (GRCm39) missense probably damaging 0.98
R7528:Pard3 UTSW 8 128,329,646 (GRCm39) missense probably damaging 1.00
R7537:Pard3 UTSW 8 128,337,063 (GRCm39) missense probably damaging 1.00
R7679:Pard3 UTSW 8 128,098,327 (GRCm39) missense probably benign 0.05
R7924:Pard3 UTSW 8 128,137,231 (GRCm39) missense probably benign
R8076:Pard3 UTSW 8 128,142,077 (GRCm39) missense probably damaging 1.00
R8258:Pard3 UTSW 8 128,098,021 (GRCm39) nonsense probably null
R8259:Pard3 UTSW 8 128,098,021 (GRCm39) nonsense probably null
R8345:Pard3 UTSW 8 128,050,549 (GRCm39) missense probably damaging 1.00
R8421:Pard3 UTSW 8 127,867,158 (GRCm39) intron probably benign
R8500:Pard3 UTSW 8 128,186,784 (GRCm39) missense probably damaging 1.00
R8742:Pard3 UTSW 8 128,050,592 (GRCm39) missense possibly damaging 0.85
R8918:Pard3 UTSW 8 128,098,011 (GRCm39) missense probably benign 0.29
R9005:Pard3 UTSW 8 128,003,647 (GRCm39) missense probably damaging 1.00
R9629:Pard3 UTSW 8 128,136,153 (GRCm39) missense possibly damaging 0.94
R9643:Pard3 UTSW 8 128,115,900 (GRCm39) missense possibly damaging 0.87
Posted On 2015-04-16