Incidental Mutation 'R9796:Pdzrn4'
ID 734965
Institutional Source Beutler Lab
Gene Symbol Pdzrn4
Ensembl Gene ENSMUSG00000036218
Gene Name PDZ domain containing RING finger 4
Synonyms 1110017D07Rik, SAMCAP3L, LNX4
MMRRC Submission
Accession Numbers
Essential gene? Probably non essential (E-score: 0.207) question?
Stock # R9796 (G1)
Quality Score 225.009
Status Not validated
Chromosome 15
Chromosomal Location 92294762-92669700 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 92578353 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Isoleucine at position 359 (F359I)
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: F120I

PolyPhen 2 Score 0.038 (Sensitivity: 0.94; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000040456
Gene: ENSMUSG00000036218
AA Change: F120I

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 possibly damaging
Transcript: ENSMUST00000169942
AA Change: F359I

PolyPhen 2 Score 0.925 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000133159
Gene: ENSMUSG00000036218
AA Change: F359I

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: 99.9%
  • 3x: 99.8%
  • 10x: 99.4%
  • 20x: 98.3%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9330159F19Rik C T 10: 29,101,349 (GRCm39) T574I possibly damaging Het
Aadac T G 3: 59,945,882 (GRCm39) V184G probably damaging Het
Adam6b G A 12: 113,454,272 (GRCm39) C363Y probably damaging Het
Adamts8 T A 9: 30,862,569 (GRCm39) I258N probably damaging Het
Adarb2 C T 13: 8,619,852 (GRCm39) L113F probably damaging Het
Aff4 A G 11: 53,302,824 (GRCm39) N1099S probably damaging Het
Alg10b G T 15: 90,108,728 (GRCm39) A30S possibly damaging Het
Als2 T A 1: 59,209,601 (GRCm39) E1460D probably benign Het
Ascc3 C T 10: 50,608,801 (GRCm39) R1515* probably null Het
Asxl2 C T 12: 3,546,508 (GRCm39) P431S probably benign Het
AU018091 A T 7: 3,213,785 (GRCm39) V153D probably damaging Het
Cd177 A G 7: 24,459,169 (GRCm39) V80A probably benign Het
Cdc16 G T 8: 13,807,693 (GRCm39) probably benign Het
Cdk14 A G 5: 5,316,012 (GRCm39) S4P probably benign Het
Ctu2 A T 8: 123,202,989 (GRCm39) Y8F probably benign Het
Dnhd1 T C 7: 105,342,537 (GRCm39) F1294L probably damaging Het
Epha7 A G 4: 28,817,457 (GRCm39) D37G probably damaging Het
Fan1 T A 7: 64,022,278 (GRCm39) N325I probably benign Het
Fbn1 T A 2: 125,158,941 (GRCm39) M2275L probably benign Het
Fbxo38 T C 18: 62,674,055 (GRCm39) K9E possibly damaging Het
Gm3696 T C 14: 18,435,140 (GRCm39) N48S possibly damaging Het
Greb1l A G 18: 10,538,233 (GRCm39) E1082G possibly damaging Het
Gtdc1 A T 2: 44,715,386 (GRCm39) N52K probably benign Het
Hrh2 C T 13: 54,375,241 (GRCm39) T359I probably benign Het
Ifi44l A G 3: 151,468,419 (GRCm39) V37A Het
Igfn1 C A 1: 135,897,611 (GRCm39) W985L probably benign Het
Il22b A G 10: 118,130,081 (GRCm39) S108P probably benign Het
Il23a G C 10: 128,132,829 (GRCm39) R143G probably benign Het
Kcnv1 T C 15: 44,977,987 (GRCm39) D17G unknown Het
Klk1 T C 7: 43,877,965 (GRCm39) W74R possibly damaging Het
Lmntd2 A T 7: 140,793,597 (GRCm39) N96K possibly damaging Het
Lrch4 A G 5: 137,635,269 (GRCm39) H253R probably damaging Het
Lrrc8d A T 5: 105,959,917 (GRCm39) D109V probably benign Het
Magi3 T C 3: 103,928,291 (GRCm39) T1004A probably benign Het
Mapk10 A G 5: 103,135,101 (GRCm39) V287A possibly damaging Het
Mtss2 G A 8: 111,456,753 (GRCm39) probably null Het
Mybpc1 T C 10: 88,406,497 (GRCm39) I116V possibly damaging Het
Mylk4 T A 13: 32,900,643 (GRCm39) M296L probably damaging Het
Nav3 A G 10: 109,527,969 (GRCm39) F2238S probably damaging Het
Or11g26 G T 14: 50,753,229 (GRCm39) L189F probably damaging Het
Pax6 T C 2: 105,522,541 (GRCm39) F243L probably damaging Het
Pcdhb22 G A 18: 37,652,404 (GRCm39) E34K possibly damaging Het
Prkn A T 17: 11,456,554 (GRCm39) D126V possibly damaging Het
Rnf168 C T 16: 32,117,872 (GRCm39) R478C probably damaging Het
Sh3gl2 G A 4: 85,295,765 (GRCm39) V156I possibly damaging Het
Taf2 A T 15: 54,910,832 (GRCm39) M614K probably damaging Het
Tbc1d31 G A 15: 57,833,179 (GRCm39) V973M probably damaging Het
Tmem131l T G 3: 83,829,402 (GRCm39) K1085T probably damaging Het
Tpst1 A G 5: 130,163,300 (GRCm39) T366A probably benign Het
Unc50 A G 1: 37,471,679 (GRCm39) T110A probably benign Het
Vmn2r60 A G 7: 41,785,172 (GRCm39) H128R probably benign Het
Vps13a A T 19: 16,631,828 (GRCm39) N2602K probably benign Het
Vps13d A G 4: 144,854,505 (GRCm39) probably null Het
Vps50 A G 6: 3,562,300 (GRCm39) E465G 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
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
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
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'- TCAGAATTGAGGGGCTTCACC -3'
(R):5'- TGATAGACGAATAACCAATGCCAAG -3'

Sequencing Primer
(F):5'- TTCACCCATGAAGAGAAAGGAAAGC -3'
(R):5'- TGCCAAGCTACTCAAAAGATCTTATC -3'
Posted On 2022-11-14