Incidental Mutation 'R1168:Pdzrn4'
ID 101390
Institutional Source Beutler Lab
Gene Symbol Pdzrn4
Ensembl Gene ENSMUSG00000036218
Gene Name PDZ domain containing RING finger 4
Synonyms 1110017D07Rik, SAMCAP3L, LNX4
MMRRC Submission 039241-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.207) question?
Stock # R1168 (G1)
Quality Score 225
Status Not validated
Chromosome 15
Chromosomal Location 92294762-92669700 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 92668152 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Phenylalanine at position 768 (Y768F)
Ref Sequence ENSEMBL: ENSMUSP00000133159 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000035399] [ENSMUST00000169942]
AlphaFold E9PUZ9
Predicted Effect probably benign
Transcript: ENSMUST00000035399
AA Change: Y529F

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
SMART Domains Protein: ENSMUSP00000040456
Gene: ENSMUSG00000036218
AA Change: Y529F

DomainStartEndE-ValueType
Blast:PDZ 1 56 4e-24 BLAST
SCOP:d1qaua_ 20 61 1e-3 SMART
PDB:1UHP|A 21 64 9e-12 PDB
PDZ 154 229 3.01e-18 SMART
low complexity region 240 259 N/A INTRINSIC
low complexity region 267 278 N/A INTRINSIC
coiled coil region 394 430 N/A INTRINSIC
low complexity region 563 577 N/A INTRINSIC
low complexity region 696 709 N/A INTRINSIC
low complexity region 732 741 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000169942
AA Change: Y768F

PolyPhen 2 Score 0.163 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000133159
Gene: ENSMUSG00000036218
AA Change: Y768F

DomainStartEndE-ValueType
RING 22 56 1.38e-1 SMART
low complexity region 101 124 N/A INTRINSIC
PDZ 213 295 3.82e-20 SMART
PDZ 393 468 3.01e-18 SMART
low complexity region 479 498 N/A INTRINSIC
low complexity region 506 517 N/A INTRINSIC
coiled coil region 633 669 N/A INTRINSIC
low complexity region 802 816 N/A INTRINSIC
low complexity region 935 948 N/A INTRINSIC
low complexity region 971 980 N/A INTRINSIC
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.1%
  • 10x: 95.2%
  • 20x: 88.8%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 80 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1110002E22Rik T C 3: 137,773,661 (GRCm39) V950A probably benign Het
Adgrb3 A T 1: 25,865,280 (GRCm39) S188T probably benign Het
Ahr A T 12: 35,554,531 (GRCm39) N529K possibly damaging Het
Akr1c21 A G 13: 4,633,836 (GRCm39) N302D probably benign Het
Aldh8a1 T A 10: 21,260,530 (GRCm39) probably null Het
Alpk3 A T 7: 80,753,105 (GRCm39) K1554M probably damaging Het
Arhgef5 T A 6: 43,250,330 (GRCm39) H360Q probably benign Het
Cacna1a A G 8: 85,306,130 (GRCm39) I1293V probably damaging Het
Cacna2d4 C T 6: 119,284,247 (GRCm39) R745W probably damaging Het
Cd200r4 T A 16: 44,653,307 (GRCm39) W72R probably damaging Het
Ces2e A T 8: 105,653,646 (GRCm39) D28V possibly damaging Het
Cfap20dc T C 14: 8,442,939 (GRCm38) N610S probably benign Het
Cfap45 T C 1: 172,373,264 (GRCm39) Y534H probably damaging Het
Cfap54 A T 10: 92,773,782 (GRCm39) C87S probably damaging Het
Chmp7 C T 14: 69,956,899 (GRCm39) M336I probably benign Het
Chrna4 T A 2: 180,675,931 (GRCm39) M67L possibly damaging Het
Cplx3 G A 9: 57,515,595 (GRCm39) R427C probably benign Het
Cts7 T A 13: 61,501,631 (GRCm39) N290Y probably damaging Het
Enpp6 A T 8: 47,483,489 (GRCm39) M94L probably damaging Het
Fam83d C T 2: 158,610,443 (GRCm39) A137V probably benign Het
Foxd2 C T 4: 114,764,875 (GRCm39) A382T possibly damaging Het
Galnt11 T G 5: 25,455,244 (GRCm39) S193R probably damaging Het
Gapvd1 A T 2: 34,594,481 (GRCm39) D856E probably damaging Het
Gclm T A 3: 122,056,337 (GRCm39) H86Q possibly damaging Het
Gipc2 T C 3: 151,813,634 (GRCm39) T220A probably benign Het
Gm12185 G T 11: 48,806,182 (GRCm39) N336K possibly damaging Het
Gm5431 A T 11: 48,786,191 (GRCm39) S61R probably benign Het
Gorasp2 C T 2: 70,518,744 (GRCm39) P260S probably damaging Het
H2-M10.6 A G 17: 37,124,052 (GRCm39) Q172R probably benign Het
Ibsp A G 5: 104,450,018 (GRCm39) I6V probably damaging Het
Iqsec1 T C 6: 90,666,658 (GRCm39) Y593C probably damaging Het
Irag1 T C 7: 110,495,138 (GRCm39) K429R probably damaging Het
Itln1 G T 1: 171,359,119 (GRCm39) Y61* probably null Het
Kif21a G A 15: 90,877,956 (GRCm39) T284I probably damaging Het
Kif3a G A 11: 53,489,139 (GRCm39) G621R probably damaging Het
Klb A G 5: 65,536,317 (GRCm39) Y549C probably damaging Het
Lrrc37 T C 11: 103,509,776 (GRCm39) probably benign Het
Map4 T C 9: 109,864,032 (GRCm39) V419A probably benign Het
Mastl A T 2: 23,023,144 (GRCm39) D526E probably benign Het
Mtif2 A G 11: 29,486,914 (GRCm39) D308G probably benign Het
Ncald A G 15: 37,397,578 (GRCm39) F34S probably damaging Het
Ndc1 A G 4: 107,253,009 (GRCm39) T593A probably benign Het
Ndst3 C T 3: 123,400,617 (GRCm39) V15I probably benign Het
Nup214 A G 2: 31,915,313 (GRCm39) N1166D probably benign Het
Or1a1 A G 11: 74,087,247 (GRCm39) H306R probably benign Het
Or2ad1 A G 13: 21,326,787 (GRCm39) S147P probably benign Het
Or4a68 G A 2: 89,270,213 (GRCm39) Q137* probably null Het
Or5m8 A T 2: 85,823,028 (GRCm39) Y289F probably damaging Het
Pcdhb8 T C 18: 37,489,780 (GRCm39) I486T probably benign Het
Pgf A G 12: 85,218,541 (GRCm39) S70P probably benign Het
Plcl2 G A 17: 50,914,100 (GRCm39) A370T possibly damaging Het
Pnkp T A 7: 44,511,961 (GRCm39) W115R probably benign Het
Ppp1r16a C T 15: 76,577,869 (GRCm39) Q328* probably null Het
Prag1 A G 8: 36,613,799 (GRCm39) E1117G probably damaging Het
Prr12 T A 7: 44,678,471 (GRCm39) Q1919L unknown Het
Ret G T 6: 118,150,519 (GRCm39) H666N possibly damaging Het
Rfwd3 C T 8: 112,014,874 (GRCm39) R326Q probably damaging Het
Robo2 C T 16: 73,745,184 (GRCm39) G864S probably damaging Het
Rpa2 T G 4: 132,499,171 (GRCm39) I80S probably damaging Het
Ryk A T 9: 102,775,674 (GRCm39) D428V probably damaging Het
Slc29a1 A T 17: 45,901,204 (GRCm39) N30K probably damaging Het
Stbd1 A G 5: 92,752,795 (GRCm39) N95S probably benign Het
Tbc1d22a A G 15: 86,176,335 (GRCm39) E212G probably benign Het
Tex14 A G 11: 87,427,568 (GRCm39) T7A probably benign Het
Tmc8 T C 11: 117,683,389 (GRCm39) V648A possibly damaging Het
Tmem132b G T 5: 125,864,083 (GRCm39) V730F probably damaging Het
Tmub2 G A 11: 102,178,196 (GRCm39) G33D possibly damaging Het
Trak1 G A 9: 121,269,745 (GRCm39) D124N probably damaging Het
Ttc28 A T 5: 111,378,977 (GRCm39) Y1154F probably damaging Het
Ttn T C 2: 76,739,713 (GRCm39) T3609A probably benign Het
Tulp2 A G 7: 45,167,266 (GRCm39) T99A probably benign Het
Ugt2a2 A T 5: 87,613,427 (GRCm39) probably null Het
Ush2a G A 1: 188,410,608 (GRCm39) V2419I probably benign Het
Vill C A 9: 118,899,389 (GRCm39) P343Q probably damaging Het
Vmn2r66 T A 7: 84,656,062 (GRCm39) H318L possibly damaging Het
Wdr3 A C 3: 100,049,535 (GRCm39) N800K probably benign Het
Wdr93 A G 7: 79,398,922 (GRCm39) K19E probably damaging Het
Wrn A G 8: 33,806,436 (GRCm39) S333P probably damaging Het
Zfp418 T C 7: 7,185,500 (GRCm39) S488P possibly damaging Het
Zfp804a A G 2: 82,087,041 (GRCm39) E290G probably benign Het
Other mutations in Pdzrn4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01932:Pdzrn4 APN 15 92,644,159 (GRCm39) missense probably damaging 1.00
IGL01991:Pdzrn4 APN 15 92,299,807 (GRCm39) splice site probably null
IGL02103:Pdzrn4 APN 15 92,667,768 (GRCm39) missense probably damaging 1.00
IGL02243:Pdzrn4 APN 15 92,668,577 (GRCm39) missense probably benign 0.30
IGL02269:Pdzrn4 APN 15 92,667,731 (GRCm39) missense probably damaging 1.00
IGL03005:Pdzrn4 APN 15 92,668,272 (GRCm39) missense probably damaging 1.00
PIT4362001:Pdzrn4 UTSW 15 92,667,762 (GRCm39) missense possibly damaging 0.46
R0243:Pdzrn4 UTSW 15 92,668,200 (GRCm39) missense possibly damaging 0.46
R0367:Pdzrn4 UTSW 15 92,655,538 (GRCm39) missense possibly damaging 0.53
R0972:Pdzrn4 UTSW 15 92,655,592 (GRCm39) missense probably benign 0.00
R1411:Pdzrn4 UTSW 15 92,668,894 (GRCm39) makesense probably null
R1466:Pdzrn4 UTSW 15 92,668,418 (GRCm39) missense probably benign 0.00
R1466:Pdzrn4 UTSW 15 92,668,418 (GRCm39) missense probably benign 0.00
R1489:Pdzrn4 UTSW 15 92,575,593 (GRCm39) missense probably benign
R1503:Pdzrn4 UTSW 15 92,297,685 (GRCm39) missense probably damaging 0.99
R1561:Pdzrn4 UTSW 15 92,575,518 (GRCm39) missense possibly damaging 0.84
R1584:Pdzrn4 UTSW 15 92,668,418 (GRCm39) missense probably benign 0.00
R1733:Pdzrn4 UTSW 15 92,299,855 (GRCm39) missense probably benign 0.06
R1965:Pdzrn4 UTSW 15 92,644,190 (GRCm39) splice site probably null
R2061:Pdzrn4 UTSW 15 92,668,041 (GRCm39) missense probably damaging 0.99
R3010:Pdzrn4 UTSW 15 92,667,692 (GRCm39) missense probably benign 0.32
R4016:Pdzrn4 UTSW 15 92,297,630 (GRCm39) missense probably benign
R4032:Pdzrn4 UTSW 15 92,667,414 (GRCm39) missense probably damaging 1.00
R4110:Pdzrn4 UTSW 15 92,668,745 (GRCm39) missense probably benign 0.26
R4180:Pdzrn4 UTSW 15 92,299,898 (GRCm39) missense possibly damaging 0.93
R4539:Pdzrn4 UTSW 15 92,668,470 (GRCm39) missense probably damaging 1.00
R4617:Pdzrn4 UTSW 15 92,667,723 (GRCm39) missense probably damaging 1.00
R4734:Pdzrn4 UTSW 15 92,668,133 (GRCm39) nonsense probably null
R4900:Pdzrn4 UTSW 15 92,668,638 (GRCm39) missense probably damaging 1.00
R5422:Pdzrn4 UTSW 15 92,575,502 (GRCm39) missense probably benign 0.01
R5444:Pdzrn4 UTSW 15 92,668,806 (GRCm39) missense probably damaging 1.00
R5772:Pdzrn4 UTSW 15 92,655,562 (GRCm39) missense probably damaging 1.00
R5775:Pdzrn4 UTSW 15 92,655,562 (GRCm39) missense probably damaging 1.00
R5935:Pdzrn4 UTSW 15 92,295,255 (GRCm39) missense probably benign 0.01
R6192:Pdzrn4 UTSW 15 92,655,562 (GRCm39) missense probably damaging 1.00
R6210:Pdzrn4 UTSW 15 92,655,562 (GRCm39) missense probably damaging 1.00
R6258:Pdzrn4 UTSW 15 92,655,562 (GRCm39) missense probably damaging 1.00
R6259:Pdzrn4 UTSW 15 92,655,562 (GRCm39) missense probably damaging 1.00
R6391:Pdzrn4 UTSW 15 92,578,418 (GRCm39) missense probably damaging 0.99
R6613:Pdzrn4 UTSW 15 92,575,455 (GRCm39) missense probably damaging 0.99
R7046:Pdzrn4 UTSW 15 92,668,303 (GRCm39) nonsense probably null
R7096:Pdzrn4 UTSW 15 92,295,384 (GRCm39) missense probably benign 0.00
R7451:Pdzrn4 UTSW 15 92,667,948 (GRCm39) missense possibly damaging 0.68
R8075:Pdzrn4 UTSW 15 92,575,605 (GRCm39) missense probably damaging 0.99
R8125:Pdzrn4 UTSW 15 92,641,476 (GRCm39) missense probably damaging 1.00
R8324:Pdzrn4 UTSW 15 92,668,818 (GRCm39) missense probably damaging 1.00
R9332:Pdzrn4 UTSW 15 92,295,216 (GRCm39) missense probably benign
R9555:Pdzrn4 UTSW 15 92,297,703 (GRCm39) missense probably damaging 1.00
R9558:Pdzrn4 UTSW 15 92,299,877 (GRCm39) missense possibly damaging 0.46
R9622:Pdzrn4 UTSW 15 92,294,949 (GRCm39) missense probably benign
R9763:Pdzrn4 UTSW 15 92,668,376 (GRCm39) missense probably damaging 1.00
R9796:Pdzrn4 UTSW 15 92,578,353 (GRCm39) missense possibly damaging 0.93
X0018:Pdzrn4 UTSW 15 92,295,104 (GRCm39) missense probably benign 0.01
X0020:Pdzrn4 UTSW 15 92,295,104 (GRCm39) missense probably benign 0.01
X0021:Pdzrn4 UTSW 15 92,575,590 (GRCm39) missense probably damaging 1.00
X0026:Pdzrn4 UTSW 15 92,295,104 (GRCm39) missense probably benign 0.01
X0027:Pdzrn4 UTSW 15 92,578,393 (GRCm39) missense possibly damaging 0.92
X0027:Pdzrn4 UTSW 15 92,295,104 (GRCm39) missense probably benign 0.01
X0065:Pdzrn4 UTSW 15 92,295,104 (GRCm39) missense probably benign 0.01
Z1176:Pdzrn4 UTSW 15 92,294,838 (GRCm39) missense probably benign 0.03
Predicted Primers
Posted On 2014-01-15