Incidental Mutation 'R4154:Pard3'
ID 315047
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 040998-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R4154 (G1)
Quality Score 225
Status Validated
Chromosome 8
Chromosomal Location 127790643-128338767 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 128200877 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Leucine at position 978 (R978L)
Ref Sequence ENSEMBL: ENSMUSP00000124533 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000026921] [ENSMUST00000160272] [ENSMUST00000160766] [ENSMUST00000162309] [ENSMUST00000162531] [ENSMUST00000162536]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000026921
AA Change: R1050L

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000026921
Gene: ENSMUSG00000025812
AA Change: R1050L

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 unknown
Transcript: ENSMUST00000159511
AA Change: R63L
Predicted Effect probably damaging
Transcript: ENSMUST00000160272
AA Change: R1065L

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000125453
Gene: ENSMUSG00000025812
AA Change: R1065L

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: R978L

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000124533
Gene: ENSMUSG00000025812
AA Change: R978L

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: R1064L

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000124282
Gene: ENSMUSG00000025812
AA Change: R1064L

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: ENSMUST00000162531
AA Change: R1025L

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000125610
Gene: ENSMUSG00000025812
AA Change: R1025L

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 damaging
Transcript: ENSMUST00000162536
AA Change: R1020L

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000125212
Gene: ENSMUSG00000025812
AA Change: R1020L

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: R1054L
SMART Domains Protein: ENSMUSP00000124718
Gene: ENSMUSG00000025812
AA Change: R1054L

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 noncoding transcript
Transcript: ENSMUST00000163002
Meta Mutation Damage Score 0.1189 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.5%
Validation Efficiency 98% (51/52)
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: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
AI593442 A T 9: 52,589,204 (GRCm39) H124Q probably benign Het
Asph C T 4: 9,639,250 (GRCm39) W38* probably null Het
Bicdl2 A G 17: 23,885,066 (GRCm39) probably null Het
Chd8 T C 14: 52,444,668 (GRCm39) probably benign Het
Clcn4 T C 7: 7,297,833 (GRCm39) N67D probably benign Het
Cptp A G 4: 155,951,657 (GRCm39) V12A possibly damaging Het
Crim1 A G 17: 78,545,272 (GRCm39) I145V probably benign Het
Ctsc G A 7: 87,948,755 (GRCm39) M195I probably benign Het
Ddx41 G A 13: 55,682,293 (GRCm39) R205W possibly damaging Het
Fas T G 19: 34,296,228 (GRCm39) I180S possibly damaging Het
Fsip2 A C 2: 82,817,413 (GRCm39) E4382A possibly damaging Het
Galnt5 T G 2: 57,888,505 (GRCm39) L35R probably damaging Het
Gfpt2 G A 11: 49,726,605 (GRCm39) probably null Het
Gjd4 G T 18: 9,280,811 (GRCm39) S89* probably null Het
Gm14496 A T 2: 181,636,872 (GRCm39) H110L probably benign Het
Golm1 A G 13: 59,790,167 (GRCm39) V211A probably benign Het
Gsc2 TGCAGCAGCAGCAGCAG TGCAGCAGCAGCAG 16: 17,732,666 (GRCm39) probably benign Het
Ighv1-72 A T 12: 115,722,017 (GRCm39) M7K probably benign Het
Igkv12-44 C T 6: 69,791,639 (GRCm39) C108Y possibly damaging Het
Lum T C 10: 97,404,815 (GRCm39) S237P probably damaging Het
Macf1 T C 4: 123,365,606 (GRCm39) K3052E probably damaging Het
Mdn1 A G 4: 32,707,475 (GRCm39) E1588G probably damaging Het
Ndst3 T C 3: 123,465,876 (GRCm39) Y32C probably damaging Het
Nucb2 A G 7: 116,126,902 (GRCm39) T172A probably benign Het
Or52b1 T C 7: 104,978,592 (GRCm39) N269S probably damaging Het
Pcdha4 A G 18: 37,086,639 (GRCm39) probably null Het
Pgk2 A G 17: 40,519,149 (GRCm39) V93A probably damaging Het
Pik3c3 G A 18: 30,444,336 (GRCm39) M516I probably benign Het
Plxnb2 A G 15: 89,043,845 (GRCm39) F1336L probably damaging Het
Shroom3 G T 5: 93,090,945 (GRCm39) V1151F probably damaging Het
Sipa1l1 G C 12: 82,471,988 (GRCm39) G1323R possibly damaging Het
Sntg1 A T 1: 8,653,569 (GRCm39) probably null Het
Spef2 T C 15: 9,626,107 (GRCm39) K1153R probably benign Het
Strn3 C T 12: 51,673,914 (GRCm39) V566M probably damaging Het
Svep1 A G 4: 58,069,068 (GRCm39) F2906S possibly damaging Het
Tbc1d8 C T 1: 39,425,216 (GRCm39) V545M probably damaging Het
Tmem131 T C 1: 36,847,874 (GRCm39) probably benign Het
Tnfsf8 A G 4: 63,752,595 (GRCm39) S157P probably benign Het
Tubgcp5 G A 7: 55,455,077 (GRCm39) V258M probably benign Het
Vat1l G C 8: 114,932,543 (GRCm39) G30R possibly damaging Het
Vegfb T C 19: 6,963,446 (GRCm39) Y106C probably damaging Het
Vmn2r100 AAAACAGGAGTATTGATTGGAAAC AAAAC 17: 19,743,681 (GRCm39) probably null Het
Zc3h15 T C 2: 83,488,913 (GRCm39) V161A probably benign 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
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'- TGTGTGAGTTCACTTTATCACTGAG -3'
(R):5'- AAAGTGTCCATCAGGTGCCC -3'

Sequencing Primer
(F):5'- AGTGTTTATGGCATTACATGGGAATC -3'
(R):5'- ATCAGGTGCCCTTCTCTTGG -3'
Posted On 2015-05-14