Incidental Mutation 'R9558:Pdzrn4'
ID 720883
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 # R9558 (G1)
Quality Score 225.009
Status Not validated
Chromosome 15
Chromosomal Location 92294762-92669700 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 92299877 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 249 (D249G)
Ref Sequence ENSEMBL: ENSMUSP00000133159 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000169942]
AlphaFold E9PUZ9
Predicted Effect possibly damaging
Transcript: ENSMUST00000169942
AA Change: D249G

PolyPhen 2 Score 0.456 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000133159
Gene: ENSMUSG00000036218
AA Change: D249G

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: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.2%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2610028H24Rik C T 10: 76,290,576 (GRCm39) P126L probably damaging Het
Adh7 T A 3: 137,932,043 (GRCm39) I219N probably damaging Het
Ash1l A G 3: 88,889,521 (GRCm39) S467G probably benign Het
Atm T C 9: 53,412,081 (GRCm39) I992V probably benign Het
Bdnf T C 2: 109,539,999 (GRCm39) V31A Het
Card6 TTGGGAGGACTGTGGATGAGAGGGCTTAGCATGGGAGGACTGTGGATGAGAGGGCTTAGCATGGGAGGACTGTGGATGAGAGGGCTTAGCATGGGAGGACTGCGGATGAGAGGGCTTAGCATGGGAGGACTG TTGGGAGGACTGTGGATGAGAGGGCTTAGCATGGGAGGACTGTGGATGAGAGGGCTTAGCATGGGAGGACTGCGGATGAGAGGGCTTAGCATGGGAGGACTG 15: 5,128,173 (GRCm39) probably benign Het
Ccnk A T 12: 108,155,397 (GRCm39) K118I possibly damaging Het
Ccr2 T A 9: 123,906,104 (GRCm39) V128E possibly damaging Het
Cd163 C A 6: 124,297,471 (GRCm39) N872K probably benign Het
Cd38 A G 5: 44,057,792 (GRCm39) I121M probably damaging Het
Cntnap5c A T 17: 58,671,157 (GRCm39) probably null Het
Cyp11b1 T C 15: 74,710,789 (GRCm39) E257G probably benign Het
Cyp2d40 T C 15: 82,645,667 (GRCm39) T113A unknown Het
Ddx23 A G 15: 98,545,433 (GRCm39) V625A possibly damaging Het
Dnaaf9 T C 2: 130,617,660 (GRCm39) N433D probably damaging Het
Fbxw17 T C 13: 50,577,311 (GRCm39) Y68H probably damaging Het
Fignl1 C T 11: 11,751,778 (GRCm39) V426I possibly damaging Het
Ggn C G 7: 28,871,973 (GRCm39) P487R probably damaging Het
Gjb6 G A 14: 57,362,261 (GRCm39) probably benign Het
Gm5930 A G 14: 44,576,014 (GRCm39) F2L possibly damaging Het
Il1r2 A G 1: 40,162,422 (GRCm39) E355G probably damaging Het
Itprid1 T A 6: 55,944,969 (GRCm39) H563Q possibly damaging Het
Jarid2 C T 13: 45,068,253 (GRCm39) R1092W possibly damaging Het
Lama1 A G 17: 68,124,004 (GRCm39) T2810A Het
Ltn1 A T 16: 87,220,295 (GRCm39) S267R probably benign Het
Mapre2 T A 18: 23,991,195 (GRCm39) H196Q possibly damaging Het
Mfap4 A C 11: 61,376,965 (GRCm39) S65R probably benign Het
Mterf1a C T 5: 3,941,807 (GRCm39) W20* probably null Het
Myh1 C G 11: 67,108,618 (GRCm39) H1345D possibly damaging Het
Myh3 T A 11: 66,983,316 (GRCm39) C948S possibly damaging Het
Ndufa8 A G 2: 35,926,605 (GRCm39) S144P probably benign Het
Nudc G A 4: 133,260,776 (GRCm39) R257C probably benign Het
Nufip1 A G 14: 76,348,481 (GRCm39) M37V probably benign Het
Ogn A G 13: 49,764,783 (GRCm39) E61G probably benign Het
Or52n5 T C 7: 104,588,615 (GRCm39) V294A possibly damaging Het
Pcdh8 A G 14: 80,006,380 (GRCm39) S728P probably damaging Het
Pigt CCAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGATCTGTAACCACAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGATCTGTAACCACAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGAT CCAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGATCTGTAACCACAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGAT 2: 164,341,589 (GRCm39) probably null Het
Setd2 C T 9: 110,376,628 (GRCm39) H148Y probably damaging Het
Smok2b G A 17: 13,453,884 (GRCm39) G15R probably damaging Het
Sun1 A G 5: 139,211,019 (GRCm39) T91A probably benign Het
Tbc1d31 G A 15: 57,795,988 (GRCm39) A194T probably damaging Het
Tiparp C T 3: 65,438,852 (GRCm39) S56F possibly damaging Het
Tmf1 C T 6: 97,147,293 (GRCm39) E558K possibly damaging Het
Trip6 A G 5: 137,309,075 (GRCm39) S344P probably benign Het
Ube2q1 A G 3: 89,686,766 (GRCm39) K207E probably benign Het
Ubr2 A G 17: 47,262,843 (GRCm39) V1256A probably benign Het
Vmn1r69 T A 7: 10,314,185 (GRCm39) Y182F probably benign Het
Wipf1 C A 2: 73,268,020 (GRCm39) R126L probably damaging Het
Zc3hav1 T C 6: 38,331,042 (GRCm39) E39G possibly 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
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'- GCTGGACTCGCTCATTACAG -3'
(R):5'- AAACATCAGTTTCTCCACTGCC -3'

Sequencing Primer
(F):5'- CCAAGTTCTCAGCTAAGAGAGTTGC -3'
(R):5'- CACTGCCATGAGATTTATACTCTG -3'
Posted On 2022-08-09