Incidental Mutation 'R0415:Pard3'
ID 40246
Institutional Source Beutler Lab
Gene Symbol Pard3
Ensembl Gene ENSMUSG00000025812
Gene Name par-3 family cell polarity regulator
Synonyms ASIP, PAR-3, Pard3a, Par3, D8Ertd580e
MMRRC Submission 038617-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R0415 (G1)
Quality Score 225
Status Validated
Chromosome 8
Chromosomal Location 127063893-127612286 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) G to A at 127610566 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Glycine to Aspartic acid at position 1221 (G1221D)
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: G1251D

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000026921
Gene: ENSMUSG00000025812
AA Change: G1251D

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: G1266D

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000125453
Gene: ENSMUSG00000025812
AA Change: G1266D

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: G1179D

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000124533
Gene: ENSMUSG00000025812
AA Change: G1179D

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: G1265D

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000124282
Gene: ENSMUSG00000025812
AA Change: G1265D

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: G1221D

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000125212
Gene: ENSMUSG00000025812
AA Change: G1221D

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: G1255D
SMART Domains Protein: ENSMUSP00000124718
Gene: ENSMUSG00000025812
AA Change: G1255D

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
Meta Mutation Damage Score 0.6467 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.4%
  • 10x: 96.7%
  • 20x: 93.6%
Validation Efficiency 97% (99/102)
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: 98 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933427G23Rik A T 5: 23,831,050 (GRCm38) noncoding transcript Het
Acox2 A G 14: 8,243,835 (GRCm38) probably benign Het
Adgb T C 10: 10,431,067 (GRCm38) probably null Het
Adgra3 C A 5: 49,961,757 (GRCm38) probably benign Het
Adgre4 G A 17: 55,852,288 (GRCm38) V658I probably benign Het
Ahnak A G 19: 9,012,871 (GRCm38) probably benign Het
Anapc2 A G 2: 25,278,325 (GRCm38) T159A probably damaging Het
Arfgef3 A G 10: 18,613,127 (GRCm38) probably benign Het
Atf7ip C T 6: 136,560,012 (GRCm38) S81L possibly damaging Het
Cacna1i A G 15: 80,368,830 (GRCm38) probably benign Het
Camk1 A T 6: 113,341,891 (GRCm38) Y20* probably null Het
Ccdc40 T C 11: 119,232,118 (GRCm38) Y249H possibly damaging Het
Cd109 T A 9: 78,712,615 (GRCm38) S1380T probably benign Het
Cfap57 A T 4: 118,569,431 (GRCm38) L1107Q possibly damaging Het
Col6a4 C T 9: 106,075,080 (GRCm38) V540I probably damaging Het
Cst9 T A 2: 148,838,442 (GRCm38) probably benign Het
Cul5 C T 9: 53,667,070 (GRCm38) V73I probably benign Het
Cxcl16 T A 11: 70,458,748 (GRCm38) K84* probably null Het
Cyp2c29 T C 19: 39,329,095 (GRCm38) probably benign Het
D6Ertd527e C G 6: 87,111,524 (GRCm38) T223S unknown Het
Dip2c C T 13: 9,568,289 (GRCm38) probably benign Het
Dis3 A T 14: 99,087,456 (GRCm38) I513N probably damaging Het
Dnajc16 A T 4: 141,789,048 (GRCm38) L3* probably null Het
Dopey1 T A 9: 86,506,502 (GRCm38) L480M probably damaging Het
Eml6 A G 11: 29,749,392 (GRCm38) V1787A possibly damaging Het
Etnk1 A G 6: 143,180,774 (GRCm38) N115S probably damaging Het
Fryl T C 5: 73,098,414 (GRCm38) Y758C probably damaging Het
Gbp4 G A 5: 105,121,106 (GRCm38) R394C possibly damaging Het
Ggnbp2 A C 11: 84,833,225 (GRCm38) probably benign Het
Gm7137 A G 10: 77,788,173 (GRCm38) probably benign Het
Gstm2 T A 3: 107,984,006 (GRCm38) Q132L probably benign Het
Habp2 T C 19: 56,317,717 (GRCm38) probably benign Het
Hectd2 T C 19: 36,584,884 (GRCm38) probably benign Het
Htr6 A G 4: 139,062,081 (GRCm38) I291T possibly damaging Het
Ighg2c T C 12: 113,287,910 (GRCm38) D199G unknown Het
Itih2 A G 2: 10,105,615 (GRCm38) probably benign Het
Kcnab2 A G 4: 152,395,136 (GRCm38) F248S probably benign Het
Kcnc4 T C 3: 107,445,433 (GRCm38) K610E probably damaging Het
Kcnk16 T A 14: 20,262,975 (GRCm38) probably null Het
Kndc1 C T 7: 139,930,124 (GRCm38) T1293I probably damaging Het
Lcp1 A T 14: 75,227,006 (GRCm38) I556F possibly damaging Het
Lrrc8d T C 5: 105,811,865 (GRCm38) L47P probably damaging Het
Lyst T C 13: 13,711,610 (GRCm38) probably benign Het
Macrod2 G A 2: 142,210,145 (GRCm38) probably null Het
Micalcl C T 7: 112,381,028 (GRCm38) R70C probably damaging Het
Mllt3 ACTGCTGCTGCTGCTGCTGCT ACTGCTGCTGCTGCTGCT 4: 87,841,339 (GRCm38) probably benign Het
Msh3 A G 13: 92,346,786 (GRCm38) V283A possibly damaging Het
Nup205 T C 6: 35,214,634 (GRCm38) probably benign Het
Nxpe2 T C 9: 48,326,614 (GRCm38) T114A probably damaging Het
Olfr1023 A T 2: 85,887,438 (GRCm38) I213F possibly damaging Het
Olfr1034 A T 2: 86,047,055 (GRCm38) H191L probably benign Het
Olfr229 A G 9: 39,909,983 (GRCm38) Y60C probably damaging Het
Olfr78 C T 7: 102,742,087 (GRCm38) M305I probably benign Het
Olfr893 A T 9: 38,209,973 (GRCm38) M305L probably benign Het
Pax5 G A 4: 44,691,886 (GRCm38) A120V probably damaging Het
Pcsk6 C T 7: 66,033,874 (GRCm38) R746C probably damaging Het
Pif1 G A 9: 65,588,051 (GRCm38) C81Y probably benign Het
Plcb1 A G 2: 135,337,499 (GRCm38) Y609C probably damaging Het
Plcd4 C A 1: 74,552,097 (GRCm38) S217Y probably damaging Het
Plxna1 G A 6: 89,357,336 (GRCm38) H104Y probably benign Het
Polr2k A G 15: 36,175,456 (GRCm38) Y45C probably damaging Het
Pqlc3 C A 12: 16,997,710 (GRCm38) probably benign Het
Prex1 A G 2: 166,586,699 (GRCm38) probably benign Het
Pth2r A G 1: 65,388,439 (GRCm38) M424V probably benign Het
Pygm A G 19: 6,391,366 (GRCm38) R464G probably benign Het
Rad51c A G 11: 87,397,655 (GRCm38) L234P probably damaging Het
Rnf145 A G 11: 44,525,138 (GRCm38) Y60C probably damaging Het
Rnf167 T C 11: 70,649,699 (GRCm38) I135T probably damaging Het
Rnf213 A T 11: 119,414,469 (GRCm38) I509F probably damaging Het
Ryr2 T C 13: 11,869,156 (GRCm38) S213G probably damaging Het
Selenbp1 T C 3: 94,936,913 (GRCm38) V27A possibly damaging Het
Selenof T G 3: 144,577,692 (GRCm38) L14R probably damaging Het
Sfswap A T 5: 129,504,126 (GRCm38) D121V probably damaging Het
Slc25a34 C A 4: 141,620,469 (GRCm38) M300I possibly damaging Het
Slc34a3 T G 2: 25,229,110 (GRCm38) T583P probably benign Het
Smg1 C A 7: 118,182,468 (GRCm38) A1199S probably benign Het
Spint1 A G 2: 119,245,615 (GRCm38) T231A probably damaging Het
Sptbn1 A C 11: 30,149,576 (GRCm38) N229K probably damaging Het
Sult2b1 A G 7: 45,730,092 (GRCm38) probably benign Het
Tas2r123 A T 6: 132,847,838 (GRCm38) M233L probably damaging Het
Tbcel C A 9: 42,444,500 (GRCm38) C139F probably benign Het
Thbs2 A C 17: 14,679,973 (GRCm38) S573A probably benign Het
Tmem132c A G 5: 127,563,705 (GRCm38) E980G probably damaging Het
Tmem247 G T 17: 86,922,322 (GRCm38) C197F probably damaging Het
Tmem251 T A 12: 102,744,876 (GRCm38) Y119* probably null Het
Tmem43 C A 6: 91,482,318 (GRCm38) P257Q probably benign Het
Tmprss13 A G 9: 45,337,132 (GRCm38) probably null Het
Trove2 G T 1: 143,760,075 (GRCm38) N444K probably benign Het
Ubr5 T C 15: 37,972,980 (GRCm38) T2626A probably damaging Het
Vmn1r196 T A 13: 22,293,836 (GRCm38) V215D probably damaging Het
Vmn1r22 G T 6: 57,900,332 (GRCm38) T220K probably benign Het
Vmn2r116 G A 17: 23,387,279 (GRCm38) M388I possibly damaging Het
Vmn2r74 A C 7: 85,961,410 (GRCm38) C25G probably damaging Het
Xndc1 T C 7: 102,080,616 (GRCm38) probably benign Het
Zfp282 A G 6: 47,897,881 (GRCm38) D340G probably damaging Het
Zfp282 T A 6: 47,905,053 (GRCm38) I558N possibly damaging Het
Zfp316 T A 5: 143,264,491 (GRCm38) T56S unknown Het
Zfp345 A G 2: 150,474,559 (GRCm38) probably benign Het
Other mutations in Pard3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00161:Pard3 APN 8 127,359,818 (GRCm38) splice site probably benign
IGL00484:Pard3 APN 8 127,371,846 (GRCm38) missense probably benign 0.05
IGL00674:Pard3 APN 8 127,388,678 (GRCm38) missense probably damaging 1.00
IGL01471:Pard3 APN 8 127,378,246 (GRCm38) missense probably benign 0.01
IGL01505:Pard3 APN 8 127,324,063 (GRCm38) missense probably damaging 1.00
IGL02252:Pard3 APN 8 127,398,756 (GRCm38) missense probably benign 0.09
IGL02511:Pard3 APN 8 127,161,320 (GRCm38) splice site probably benign
IGL02838:Pard3 APN 8 127,426,647 (GRCm38) missense probably damaging 0.99
IGL02948:Pard3 APN 8 127,306,494 (GRCm38) missense probably benign 0.00
IGL02987:Pard3 APN 8 127,389,491 (GRCm38) missense probably damaging 0.98
IGL03037:Pard3 APN 8 127,306,494 (GRCm38) missense probably benign 0.00
IGL03084:Pard3 APN 8 127,593,092 (GRCm38) missense probably damaging 0.96
BB001:Pard3 UTSW 8 127,410,750 (GRCm38) missense probably benign
BB011:Pard3 UTSW 8 127,410,750 (GRCm38) missense probably benign
R0025:Pard3 UTSW 8 127,161,308 (GRCm38) missense probably damaging 1.00
R0025:Pard3 UTSW 8 127,161,308 (GRCm38) missense probably damaging 1.00
R0029:Pard3 UTSW 8 127,426,758 (GRCm38) splice site probably benign
R0109:Pard3 UTSW 8 127,398,666 (GRCm38) missense probably damaging 1.00
R0309:Pard3 UTSW 8 127,376,897 (GRCm38) splice site probably benign
R0507:Pard3 UTSW 8 127,371,486 (GRCm38) splice site probably benign
R1055:Pard3 UTSW 8 127,378,280 (GRCm38) missense probably benign 0.34
R1305:Pard3 UTSW 8 127,306,410 (GRCm38) missense possibly damaging 0.62
R1619:Pard3 UTSW 8 127,380,502 (GRCm38) missense probably benign 0.02
R1855:Pard3 UTSW 8 127,447,812 (GRCm38) splice site probably null
R2001:Pard3 UTSW 8 127,064,347 (GRCm38) splice site probably null
R2060:Pard3 UTSW 8 127,398,604 (GRCm38) missense probably benign 0.05
R2064:Pard3 UTSW 8 127,610,611 (GRCm38) missense probably damaging 1.00
R2113:Pard3 UTSW 8 127,388,537 (GRCm38) missense probably damaging 1.00
R2136:Pard3 UTSW 8 127,376,885 (GRCm38) critical splice donor site probably null
R2224:Pard3 UTSW 8 127,359,776 (GRCm38) missense probably damaging 1.00
R2252:Pard3 UTSW 8 127,610,599 (GRCm38) missense probably damaging 1.00
R3870:Pard3 UTSW 8 127,409,686 (GRCm38) missense probably damaging 1.00
R4154:Pard3 UTSW 8 127,474,396 (GRCm38) missense probably damaging 1.00
R4212:Pard3 UTSW 8 127,610,458 (GRCm38) missense probably benign 0.43
R4243:Pard3 UTSW 8 127,371,647 (GRCm38) missense probably benign 0.09
R4523:Pard3 UTSW 8 127,398,627 (GRCm38) missense probably benign 0.08
R4857:Pard3 UTSW 8 127,324,054 (GRCm38) missense probably damaging 0.98
R4876:Pard3 UTSW 8 127,561,469 (GRCm38) intron probably benign
R4877:Pard3 UTSW 8 127,388,537 (GRCm38) missense probably damaging 1.00
R5197:Pard3 UTSW 8 127,073,290 (GRCm38) splice site probably null
R5215:Pard3 UTSW 8 127,378,264 (GRCm38) missense probably damaging 1.00
R5279:Pard3 UTSW 8 127,460,386 (GRCm38) critical splice donor site probably null
R5349:Pard3 UTSW 8 127,415,743 (GRCm38) missense probably damaging 1.00
R5479:Pard3 UTSW 8 127,370,355 (GRCm38) missense probably damaging 1.00
R5514:Pard3 UTSW 8 127,426,605 (GRCm38) missense probably damaging 1.00
R5681:Pard3 UTSW 8 127,389,433 (GRCm38) missense possibly damaging 0.81
R5934:Pard3 UTSW 8 127,389,338 (GRCm38) missense probably damaging 1.00
R6034:Pard3 UTSW 8 127,064,327 (GRCm38) utr 5 prime probably benign
R6034:Pard3 UTSW 8 127,064,327 (GRCm38) utr 5 prime probably benign
R6187:Pard3 UTSW 8 127,073,273 (GRCm38) missense probably benign 0.00
R6382:Pard3 UTSW 8 127,376,783 (GRCm38) missense probably damaging 1.00
R6774:Pard3 UTSW 8 127,410,747 (GRCm38) missense probably damaging 0.98
R7130:Pard3 UTSW 8 127,415,683 (GRCm38) missense probably damaging 1.00
R7267:Pard3 UTSW 8 127,371,575 (GRCm38) missense probably damaging 0.97
R7358:Pard3 UTSW 8 127,593,092 (GRCm38) missense probably damaging 0.98
R7528:Pard3 UTSW 8 127,603,165 (GRCm38) missense probably damaging 1.00
R7537:Pard3 UTSW 8 127,610,582 (GRCm38) missense probably damaging 1.00
R7679:Pard3 UTSW 8 127,371,846 (GRCm38) missense probably benign 0.05
R7924:Pard3 UTSW 8 127,410,750 (GRCm38) missense probably benign
R8076:Pard3 UTSW 8 127,415,596 (GRCm38) missense probably damaging 1.00
R8258:Pard3 UTSW 8 127,371,540 (GRCm38) nonsense probably null
R8259:Pard3 UTSW 8 127,371,540 (GRCm38) nonsense probably null
R8345:Pard3 UTSW 8 127,324,068 (GRCm38) missense probably damaging 1.00
R8421:Pard3 UTSW 8 127,140,408 (GRCm38) intron probably benign
R8500:Pard3 UTSW 8 127,460,303 (GRCm38) missense probably damaging 1.00
R8742:Pard3 UTSW 8 127,324,111 (GRCm38) missense possibly damaging 0.85
R8918:Pard3 UTSW 8 127,371,530 (GRCm38) missense probably benign 0.29
R9005:Pard3 UTSW 8 127,277,166 (GRCm38) missense probably damaging 1.00
R9629:Pard3 UTSW 8 127,409,672 (GRCm38) missense possibly damaging 0.94
R9643:Pard3 UTSW 8 127,389,419 (GRCm38) missense possibly damaging 0.87
Predicted Primers PCR Primer
(F):5'- AGCCCCTCACCATGATACCTGG -3'
(R):5'- CTTTGCTCATGCTGCTTAAAGGCAC -3'

Sequencing Primer
(F):5'- TGCTAAAGCCTGGAGATTCATC -3'
(R):5'- TCTGTTCCTGTCGGAGAAGCT -3'
Posted On 2013-05-23