Incidental Mutation 'R2252:Pard3'
ID 241756
Institutional Source Beutler Lab
Gene Symbol Pard3
Ensembl Gene ENSMUSG00000025812
Gene Name par-3 family cell polarity regulator
Synonyms Par3, Pard3a, ASIP, D8Ertd580e, PAR-3
MMRRC Submission 040252-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R2252 (G1)
Quality Score 225
Status Not validated
Chromosome 8
Chromosomal Location 127790643-128338767 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 128337080 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Valine at position 1232 (E1232V)
Ref Sequence ENSEMBL: ENSMUSP00000125212 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000026921] [ENSMUST00000160272] [ENSMUST00000160766] [ENSMUST00000162309] [ENSMUST00000162536]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000026921
AA Change: E1262V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000026921
Gene: ENSMUSG00000025812
AA Change: E1262V

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 noncoding transcript
Transcript: ENSMUST00000159940
Predicted Effect probably damaging
Transcript: ENSMUST00000160272
AA Change: E1277V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000125453
Gene: ENSMUSG00000025812
AA Change: E1277V

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 damaging
Transcript: ENSMUST00000160766
AA Change: E1190V

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000124533
Gene: ENSMUSG00000025812
AA Change: E1190V

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 damaging
Transcript: ENSMUST00000162309
AA Change: E1276V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000124282
Gene: ENSMUSG00000025812
AA Change: E1276V

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 probably damaging
Transcript: ENSMUST00000162536
AA Change: E1232V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000125212
Gene: ENSMUSG00000025812
AA Change: E1232V

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 unknown
Transcript: ENSMUST00000162665
AA Change: E1266V
SMART Domains Protein: ENSMUSP00000124718
Gene: ENSMUSG00000025812
AA Change: E1266V

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
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.1%
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: 56 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700129C05Rik G A 14: 59,380,061 (GRCm39) S79F probably damaging Het
Acaca G T 11: 84,262,358 (GRCm39) V1987L probably damaging Het
B3gnt3 A T 8: 72,145,462 (GRCm39) M302K probably damaging Het
BC048507 T C 13: 68,011,626 (GRCm39) M1T probably null Het
Bckdk C A 7: 127,504,590 (GRCm39) R105S probably damaging Het
Casp3 G T 8: 47,090,990 (GRCm39) W214L probably damaging Het
Cd180 A T 13: 102,842,906 (GRCm39) K651* probably null Het
Cdh15 T A 8: 123,584,161 (GRCm39) D87E probably damaging Het
Cldn24 G T 8: 48,275,363 (GRCm39) R62S probably benign Het
Cnot1 A G 8: 96,489,814 (GRCm39) V463A probably benign Het
Cspg4 C T 9: 56,805,330 (GRCm39) T2047I probably damaging Het
Cul2 A T 18: 3,399,876 (GRCm39) L3F probably damaging Het
Cwc27 A T 13: 104,768,237 (GRCm39) H419Q probably damaging Het
Dgkg A T 16: 22,441,010 (GRCm39) M1K probably null Het
Dock5 A T 14: 68,022,261 (GRCm39) L1171H probably damaging Het
Drc1 G T 5: 30,500,075 (GRCm39) V103F probably benign Het
Ep400 A T 5: 110,866,957 (GRCm39) N1062K unknown Het
Faap20 A C 4: 155,335,010 (GRCm39) E37A possibly damaging Het
Foxa2 A G 2: 147,886,086 (GRCm39) F243S probably damaging Het
Gzf1 T C 2: 148,525,856 (GRCm39) M109T probably damaging Het
Itch T A 2: 155,054,259 (GRCm39) M701K probably benign Het
Kpna1 T C 16: 35,841,939 (GRCm39) Y280H possibly damaging Het
L1td1 A G 4: 98,625,874 (GRCm39) probably null Het
Lrrc37a T C 11: 103,392,293 (GRCm39) Q1044R probably benign Het
Lrrc52 A T 1: 167,293,937 (GRCm39) I116N probably damaging Het
Mbd5 A G 2: 49,147,698 (GRCm39) E636G probably damaging Het
Mrpl40 T C 16: 18,694,125 (GRCm39) H29R probably benign Het
Nrip1 T C 16: 76,088,173 (GRCm39) Y1128C probably damaging Het
Or10d3 G T 9: 39,461,273 (GRCm39) A298D probably damaging Het
Or4g16 A G 2: 111,136,655 (GRCm39) Y35C probably damaging Het
Or5ak20 A G 2: 85,184,202 (GRCm39) S23P possibly damaging Het
Or8c8 A G 9: 38,165,126 (GRCm39) I135V probably benign Het
Pcif1 A G 2: 164,732,799 (GRCm39) E628G probably benign Het
Pcsk1 C A 13: 75,274,845 (GRCm39) A478D probably benign Het
Pkd1l2 T C 8: 117,784,177 (GRCm39) Y700C probably damaging Het
Pknox2 T C 9: 36,821,816 (GRCm39) N270D probably benign Het
Plcb2 T C 2: 118,554,246 (GRCm39) N69S probably benign Het
Reep1 T A 6: 71,733,426 (GRCm39) probably null Het
Sash1 A T 10: 8,605,741 (GRCm39) M883K probably benign Het
Secisbp2l C T 2: 125,582,657 (GRCm39) G933D possibly damaging Het
Septin4 A G 11: 87,480,637 (GRCm39) N405D possibly damaging Het
Serpinb3b T C 1: 107,083,208 (GRCm39) I231M possibly damaging Het
Serping1 A G 2: 84,600,195 (GRCm39) S322P probably damaging Het
Slc7a2 T C 8: 41,358,658 (GRCm39) Y334H probably benign Het
Spink5 G T 18: 44,153,891 (GRCm39) E1013* probably null Het
Thoc3 A T 13: 54,615,646 (GRCm39) N139K probably benign Het
Tns2 C T 15: 102,017,369 (GRCm39) R281C probably damaging Het
Tubb2b T A 13: 34,314,198 (GRCm39) I7F possibly damaging Het
Upf2 A G 2: 5,966,271 (GRCm39) D297G unknown Het
Vmn2r18 T C 5: 151,508,441 (GRCm39) I228V possibly damaging Het
Vmn2r98 A C 17: 19,300,698 (GRCm39) S567R probably benign Het
Vwa5a T C 9: 38,639,376 (GRCm39) I369T probably damaging Het
Yjefn3 A C 8: 70,342,095 (GRCm39) F42V probably damaging Het
Zfp472 A T 17: 33,195,257 (GRCm39) R69* probably null Het
Zfp536 T C 7: 37,178,814 (GRCm39) S200G probably benign Het
Zfp970 T A 2: 177,166,614 (GRCm39) probably null 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
IGL02511:Pard3 APN 8 127,888,070 (GRCm39) splice site probably benign
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
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
Predicted Primers PCR Primer
(F):5'- TGCTAAAGCCTGGAGATTCATC -3'
(R):5'- GCATGACACAAAATGCTGCC -3'

Sequencing Primer
(F):5'- CTTTGCTTTATTGCTAGACAAAGC -3'
(R):5'- CCTTCTTTGAGCTCAGGAGTAGAAG -3'
Posted On 2014-10-16