Incidental Mutation 'R1489:Pdzrn4'
ID 163626
Institutional Source Beutler Lab
Gene Symbol Pdzrn4
Ensembl Gene ENSMUSG00000036218
Gene Name PDZ domain containing RING finger 4
Synonyms 1110017D07Rik, SAMCAP3L, LNX4
MMRRC Submission 039541-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.207) question?
Stock # R1489 (G1)
Quality Score 225
Status Validated
Chromosome 15
Chromosomal Location 92294762-92669700 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 92575593 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Proline at position 333 (L333P)
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: L94P

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000040456
Gene: ENSMUSG00000036218
AA Change: L94P

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: L333P

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000133159
Gene: ENSMUSG00000036218
AA Change: L333P

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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000229173
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.4%
  • 10x: 96.7%
  • 20x: 93.9%
Validation Efficiency 96% (52/54)
Allele List at MGI
Other mutations in this stock
Total: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2700097O09Rik A G 12: 55,106,295 (GRCm39) S143P possibly damaging Het
4930522H14Rik T C 4: 109,362,654 (GRCm39) K218E possibly damaging Het
Abcb1a T A 5: 8,736,300 (GRCm39) probably null Het
Adam39 A G 8: 41,278,031 (GRCm39) T141A possibly damaging Het
Adam6b T A 12: 113,455,071 (GRCm39) S629R probably benign Het
Ap3b2 C A 7: 81,113,438 (GRCm39) E924* probably null Het
Armc3 A T 2: 19,314,858 (GRCm39) Y856F probably benign Het
Asap1 A G 15: 64,044,579 (GRCm39) L142P probably damaging Het
Atg9a T A 1: 75,162,734 (GRCm39) D427V probably damaging Het
Atl2 G A 17: 80,160,135 (GRCm39) A17V probably benign Het
Atxn2l A T 7: 126,095,639 (GRCm39) S379T probably damaging Het
C1ql3 G T 2: 13,015,453 (GRCm39) P69Q possibly damaging Het
Cap2 A T 13: 46,763,111 (GRCm39) I114F probably damaging Het
Ccdc168 A G 1: 44,096,950 (GRCm39) F1383L probably benign Het
Ccdc168 T C 1: 44,100,667 (GRCm39) I144V probably benign Het
Cox16 T C 12: 81,521,389 (GRCm39) N135S probably null Het
Dnajc13 A T 9: 104,108,234 (GRCm39) H180Q possibly damaging Het
Dpy19l3 A T 7: 35,424,835 (GRCm39) Y73* probably null Het
Duox2 T A 2: 122,123,877 (GRCm39) M436L probably benign Het
Exoc6 T A 19: 37,585,568 (GRCm39) M481K possibly damaging Het
Fbxw2 GCCCCC GCCCCCCCC 2: 34,702,829 (GRCm39) probably benign Het
Fmn1 T A 2: 113,195,557 (GRCm39) V419E unknown Het
Fndc4 T C 5: 31,450,795 (GRCm39) *232W probably null Het
Foxc1 C T 13: 31,992,595 (GRCm39) R469* probably null Het
Fsip2 A G 2: 82,810,155 (GRCm39) H2158R probably benign Het
Ghdc C T 11: 100,659,083 (GRCm39) G373D probably benign Het
Gm10330 A T 12: 23,830,032 (GRCm39) S50T probably benign Het
Hlx G T 1: 184,464,184 (GRCm39) A52D probably damaging Het
Lonrf1 A G 8: 36,690,108 (GRCm39) V650A probably damaging Het
Map1a T C 2: 121,130,918 (GRCm39) V578A possibly damaging Het
Mbd3 C G 10: 80,229,740 (GRCm39) D190H probably damaging Het
Mcpt9 T C 14: 56,264,976 (GRCm39) K175R probably benign Het
Mia3 A G 1: 183,120,121 (GRCm39) S85P probably benign Het
Myrip T C 9: 120,261,595 (GRCm39) F403L probably damaging Het
Nox4 A G 7: 86,954,097 (GRCm39) Y134C probably damaging Het
Numb A G 12: 83,842,217 (GRCm39) L642P probably damaging Het
Pappa A T 4: 65,099,185 (GRCm39) Y568F possibly damaging Het
Prl A T 13: 27,241,619 (GRCm39) S3C probably damaging Het
Ptprc T C 1: 138,047,824 (GRCm39) T60A possibly damaging Het
Rbm10 C T X: 20,503,903 (GRCm39) probably benign Het
Slc7a7 C T 14: 54,646,103 (GRCm39) R120H probably damaging Het
Smpd1 T C 7: 105,205,761 (GRCm39) probably null Het
Spta1 A G 1: 174,058,891 (GRCm39) E1942G probably damaging Het
Tmem38a A G 8: 73,333,479 (GRCm39) Y66C probably damaging Het
Tnnt1 A T 7: 4,510,524 (GRCm39) Y232* probably null Het
Tpte T C 8: 22,839,405 (GRCm39) probably null Het
Virma T C 4: 11,521,164 (GRCm39) V907A probably damaging Het
Vmn1r174 C T 7: 23,453,981 (GRCm39) Q216* probably null Het
Zswim3 T C 2: 164,661,901 (GRCm39) V127A 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
R1168:Pdzrn4 UTSW 15 92,668,152 (GRCm39) missense probably benign 0.16
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
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 PCR Primer
(F):5'- AGCTTTTCGAACTGCCAAGGAGCC -3'
(R):5'- AGTCACCTTCCCCTGAGCCTTAATG -3'

Sequencing Primer
(F):5'- CCCATAGTGGTACAGGTGTTAAG -3'
(R):5'- CTGACTAGTAGTCTGAGCCTTGAAG -3'
Posted On 2014-03-28