Incidental Mutation 'R4212:Pard3'
ID 319245
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 041641-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R4212 (G1)
Quality Score 225
Status Not validated
Chromosome 8
Chromosomal Location 127790643-128338767 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 128336939 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Lysine at position 1143 (I1143K)
Ref Sequence ENSEMBL: ENSMUSP00000124533 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000026921] [ENSMUST00000160272] [ENSMUST00000160766] [ENSMUST00000162309] [ENSMUST00000162536]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000026921
AA Change: I1215K

PolyPhen 2 Score 0.298 (Sensitivity: 0.91; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000026921
Gene: ENSMUSG00000025812
AA Change: I1215K

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 benign
Transcript: ENSMUST00000160272
AA Change: I1230K

PolyPhen 2 Score 0.298 (Sensitivity: 0.91; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000125453
Gene: ENSMUSG00000025812
AA Change: I1230K

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: ENSMUST00000160766
AA Change: I1143K

PolyPhen 2 Score 0.431 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000124533
Gene: ENSMUSG00000025812
AA Change: I1143K

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: ENSMUST00000162309
AA Change: I1229K

PolyPhen 2 Score 0.298 (Sensitivity: 0.91; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000124282
Gene: ENSMUSG00000025812
AA Change: I1229K

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 benign
Transcript: ENSMUST00000162536
AA Change: I1185K

PolyPhen 2 Score 0.298 (Sensitivity: 0.91; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000125212
Gene: ENSMUSG00000025812
AA Change: I1185K

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: I1219K
SMART Domains Protein: ENSMUSP00000124718
Gene: ENSMUSG00000025812
AA Change: I1219K

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: 99.2%
  • 3x: 98.6%
  • 10x: 97.4%
  • 20x: 95.8%
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: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A1bg G T 15: 60,791,585 (GRCm39) L284M possibly damaging Het
Adamts15 A G 9: 30,817,470 (GRCm39) V536A probably damaging Het
Arsi A T 18: 61,049,773 (GRCm39) I219F probably damaging Het
Atg7 G A 6: 114,680,386 (GRCm39) G447E probably benign Het
Bdp1 T A 13: 100,196,093 (GRCm39) H1223L probably benign Het
Cep152 A G 2: 125,461,921 (GRCm39) M87T probably benign Het
Chrm3 T C 13: 9,927,791 (GRCm39) D415G probably benign Het
Chrnb2 A T 3: 89,668,851 (GRCm39) C155S probably damaging Het
Col6a4 T A 9: 105,952,569 (GRCm39) Q443L probably benign Het
Ct45a C T X: 55,590,568 (GRCm39) V78I probably benign Het
D5Ertd579e A T 5: 36,771,823 (GRCm39) D857E probably damaging Het
Efcab6 T C 15: 83,777,064 (GRCm39) D1124G probably damaging Het
F830045P16Rik C T 2: 129,302,273 (GRCm39) A440T probably benign Het
Gc T C 5: 89,583,434 (GRCm39) K370E probably benign Het
Gm11559 A G 11: 99,755,726 (GRCm39) Q125R unknown Het
Gm3985 A T 8: 33,432,484 (GRCm39) noncoding transcript Het
Gucy2e A G 11: 69,118,949 (GRCm39) F681S probably damaging Het
Hip1r A G 5: 124,137,953 (GRCm39) I760V probably benign Het
Islr2 C T 9: 58,106,603 (GRCm39) G219D probably damaging Het
Itgae A G 11: 73,010,178 (GRCm39) H556R probably benign Het
Jag1 T C 2: 136,926,990 (GRCm39) D923G probably benign Het
Kmt2c A G 5: 25,552,357 (GRCm39) probably null Het
Kmt2d A G 15: 98,742,884 (GRCm39) probably benign Het
Krtap17-1 A G 11: 99,884,740 (GRCm39) L9P unknown Het
Lats2 C T 14: 57,933,712 (GRCm39) D802N possibly damaging Het
Lrfn5 A T 12: 61,890,606 (GRCm39) T632S probably benign Het
Myo9a C T 9: 59,813,349 (GRCm39) R2183* probably null Het
Myorg T C 4: 41,498,307 (GRCm39) E441G probably benign Het
Naip1 T C 13: 100,563,383 (GRCm39) probably null Het
Nf1 T A 11: 79,360,624 (GRCm39) V1434E probably damaging Het
Nlrc4 T C 17: 74,754,110 (GRCm39) Y91C possibly damaging Het
Or4l1 A T 14: 50,166,346 (GRCm39) Y218* probably null Het
Or5b102 T G 19: 13,041,123 (GRCm39) M116R probably damaging Het
Or5k1 T A 16: 58,617,732 (GRCm39) H159L possibly damaging Het
Pcdha7 A G 18: 37,108,027 (GRCm39) T351A probably benign Het
Phf2 C A 13: 48,974,089 (GRCm39) G318V unknown Het
Plch1 T A 3: 63,778,180 (GRCm39) probably benign Het
Polr1c A G 17: 46,557,046 (GRCm39) I79T probably damaging Het
Ppp2r5e A G 12: 75,516,325 (GRCm39) I244T probably damaging Het
Psmd12 T C 11: 107,376,585 (GRCm39) C74R probably damaging Het
Qng1 C T 13: 58,529,805 (GRCm39) G269E probably damaging Het
Ralgapa1 A G 12: 55,786,115 (GRCm39) probably null Het
Robo3 C T 9: 37,333,194 (GRCm39) G781D probably damaging Het
Scn8a T C 15: 100,854,954 (GRCm39) V147A possibly damaging Het
Sema3b C T 9: 107,480,597 (GRCm39) V117M probably damaging Het
Sfxn5 A T 6: 85,309,288 (GRCm39) L139* probably null Het
Slc2a12 A T 10: 22,577,993 (GRCm39) K596N probably benign Het
Sorcs1 G A 19: 50,213,613 (GRCm39) R705C probably damaging Het
Spata31e4 C T 13: 50,854,388 (GRCm39) T82I possibly damaging Het
Tlr4 T A 4: 66,758,563 (GRCm39) I452N probably damaging Het
Tshz3 A G 7: 36,469,544 (GRCm39) D511G probably damaging Het
Usp44 A G 10: 93,682,632 (GRCm39) K314E 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
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
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
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'- TTGGTATCTTCCCAAGCTCTGATAG -3'
(R):5'- CTAGCCACCTGAGATGGAGAAG -3'

Sequencing Primer
(F):5'- AGTCAATTTTGAGAGCTCTAGCCC -3'
(R):5'- AAGGGCCCTCTGACTCCATC -3'
Posted On 2015-06-10