Incidental Mutation 'IGL02103:Pdzrn4'
ID 279855
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Pdzrn4
Ensembl Gene ENSMUSG00000036218
Gene Name PDZ domain containing RING finger 4
Synonyms 1110017D07Rik, SAMCAP3L, LNX4
Accession Numbers
Essential gene? Probably non essential (E-score: 0.207) question?
Stock # IGL02103
Quality Score
Status
Chromosome 15
Chromosomal Location 92294762-92669700 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 92667768 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Glutamic Acid at position 640 (V640E)
Ref Sequence ENSEMBL: ENSMUSP00000133159 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000035399] [ENSMUST00000169942]
AlphaFold E9PUZ9
Predicted Effect possibly damaging
Transcript: ENSMUST00000035399
AA Change: V401E

PolyPhen 2 Score 0.707 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000040456
Gene: ENSMUSG00000036218
AA Change: V401E

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 damaging
Transcript: ENSMUST00000169942
AA Change: V640E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000133159
Gene: ENSMUSG00000036218
AA Change: V640E

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
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcd4 G A 12: 84,659,138 (GRCm39) T206M probably benign Het
Adcy3 T A 12: 4,184,390 (GRCm39) V22D possibly damaging Het
Alb G A 5: 90,611,990 (GRCm39) E140K probably benign Het
Aph1a G A 3: 95,803,125 (GRCm39) V193I probably damaging Het
Asb2 G A 12: 103,299,755 (GRCm39) R178* probably null Het
Celf3 A T 3: 94,394,108 (GRCm39) Q137L probably damaging Het
Cmya5 T C 13: 93,228,635 (GRCm39) D2151G probably benign Het
Cuedc1 T A 11: 88,079,625 (GRCm39) S353T probably damaging Het
Dlg5 A C 14: 24,194,414 (GRCm39) L1709R probably damaging Het
Dst T C 1: 34,229,199 (GRCm39) I1939T possibly damaging Het
Emx2 A T 19: 59,450,130 (GRCm39) N149I probably benign Het
Fancm A G 12: 65,142,558 (GRCm39) D472G probably benign Het
Fasn T C 11: 120,702,762 (GRCm39) Y1700C probably damaging Het
Fat2 T A 11: 55,180,122 (GRCm39) R1406S probably damaging Het
Fat4 C A 3: 38,943,348 (GRCm39) T747K probably damaging Het
Fer A G 17: 64,445,923 (GRCm39) M795V probably benign Het
Gm5916 A G 9: 36,039,970 (GRCm39) L6P probably damaging Het
Gpr139 A G 7: 118,744,355 (GRCm39) F77L possibly damaging Het
Kcnu1 T C 8: 26,395,976 (GRCm39) S654P possibly damaging Het
Kdm5c T A X: 151,031,762 (GRCm39) F408L probably damaging Het
Kel A G 6: 41,679,323 (GRCm39) S147P probably benign Het
Klra5 A T 6: 129,888,307 (GRCm39) probably null Het
Mastl A G 2: 23,030,010 (GRCm39) S239P probably benign Het
Med18 A T 4: 132,186,977 (GRCm39) V174D probably damaging Het
Mgat4a A T 1: 37,502,007 (GRCm39) M247K possibly damaging Het
Mx2 A C 16: 97,345,795 (GRCm39) D71A probably damaging Het
Nxt1 G T 2: 148,517,564 (GRCm39) E102* probably null Het
Or14j1 A G 17: 38,146,169 (GRCm39) Q93R possibly damaging Het
Or3a1 A G 11: 74,225,862 (GRCm39) F65S probably damaging Het
Or7g16 T C 9: 18,727,005 (GRCm39) N195S probably damaging Het
Pcdhb16 T A 18: 37,613,161 (GRCm39) V707E probably benign Het
Piwil4 T C 9: 14,637,282 (GRCm39) probably null Het
Pla2g4a A T 1: 149,776,950 (GRCm39) D55E probably damaging Het
Plekhg2 C A 7: 28,059,501 (GRCm39) R1276L probably damaging Het
Psd4 G A 2: 24,290,540 (GRCm39) W539* probably null Het
Rae1 G A 2: 172,845,306 (GRCm39) E33K probably damaging Het
Rbm12b1 T A 4: 12,145,563 (GRCm39) F512I probably damaging Het
Rfx6 A G 10: 51,602,952 (GRCm39) D823G possibly damaging Het
Samt3 A T X: 85,090,759 (GRCm39) Q217L probably damaging Het
Selenbp2 A G 3: 94,605,438 (GRCm39) N134S probably null Het
Selenoo T C 15: 88,984,173 (GRCm39) V663A probably damaging Het
Sp4 G T 12: 118,263,284 (GRCm39) T254N probably damaging Het
Spdya A G 17: 71,885,242 (GRCm39) K232R probably benign Het
Stom A T 2: 35,210,401 (GRCm39) V201E probably benign Het
Sycp3 A G 10: 88,302,334 (GRCm39) K108R possibly damaging Het
Usp2 A G 9: 44,000,425 (GRCm39) probably benign Het
Vmn1r226 T C 17: 20,907,926 (GRCm39) S53P probably damaging Het
Vmn2r14 C T 5: 109,372,349 (GRCm39) G47D probably damaging Het
Vwf T G 6: 125,623,318 (GRCm39) L1805W probably damaging Het
Washc3 A T 10: 88,037,687 (GRCm39) Q22L probably damaging Het
Wdr81 T A 11: 75,335,546 (GRCm39) D1761V probably damaging 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
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
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
Posted On 2015-04-16