Incidental Mutation 'R4367:Podnl1'
ID 325809
Institutional Source Beutler Lab
Gene Symbol Podnl1
Ensembl Gene ENSMUSG00000012889
Gene Name podocan-like 1
Synonyms 5832418A03Rik
MMRRC Submission 041673-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.082) question?
Stock # R4367 (G1)
Quality Score 225
Status Validated
Chromosome 8
Chromosomal Location 84852618-84859156 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 84853897 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Histidine at position 89 (R89H)
Ref Sequence ENSEMBL: ENSMUSP00000091073 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000093380]
AlphaFold Q6P3Y9
Predicted Effect probably benign
Transcript: ENSMUST00000093380
AA Change: R89H

PolyPhen 2 Score 0.029 (Sensitivity: 0.95; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000091073
Gene: ENSMUSG00000012889
AA Change: R89H

DomainStartEndE-ValueType
signal peptide 1 20 N/A INTRINSIC
LRRNT 38 71 1.91e0 SMART
LRR 70 89 1.81e2 SMART
LRR 90 115 1.76e-1 SMART
LRR 116 139 1.19e2 SMART
LRR 162 186 1.06e1 SMART
LRR 191 210 5.42e1 SMART
LRR 211 231 1.66e1 SMART
LRR 233 257 3.98e1 SMART
LRR_TYP 258 281 7.9e-4 SMART
LRR 304 328 9.24e1 SMART
LRR_TYP 329 352 4.72e-2 SMART
LRR 375 399 2.61e2 SMART
LRR_TYP 400 423 2.61e-4 SMART
LRR 424 444 3.18e1 SMART
LRR 445 470 3.27e1 SMART
LRR_TYP 471 494 3.63e-3 SMART
LRR 495 515 1.97e1 SMART
LRR 516 541 2.03e2 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000147175
Meta Mutation Damage Score 0.0702 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.6%
  • 10x: 97.0%
  • 20x: 94.4%
Validation Efficiency 98% (54/55)
Allele List at MGI
Other mutations in this stock
Total: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adrb2 T C 18: 62,312,127 (GRCm39) I233V probably damaging Het
Alox5 T A 6: 116,437,924 (GRCm39) Y21F possibly damaging Het
Ank2 T C 3: 126,739,798 (GRCm39) T1942A probably benign Het
Aoc1l1 T C 6: 48,953,064 (GRCm39) S330P probably damaging Het
B4galt3 C A 1: 171,101,613 (GRCm39) H196N probably damaging Het
Bckdk C T 7: 127,505,591 (GRCm39) A238V probably benign Het
Casp1 A G 9: 5,299,333 (GRCm39) T21A probably benign Het
Ccdc39 T C 3: 33,880,671 (GRCm39) H432R probably benign Het
Cttnbp2 A C 6: 18,405,248 (GRCm39) C574G probably damaging Het
Cyp1a1 T C 9: 57,607,432 (GRCm39) V20A probably benign Het
Dhx38 C T 8: 110,279,763 (GRCm39) V976I probably damaging Het
Dnah6 A G 6: 73,126,467 (GRCm39) S1287P possibly damaging Het
Dnttip2 T C 3: 122,070,146 (GRCm39) S454P probably damaging Het
Drp2 A T X: 133,335,884 (GRCm39) probably benign Het
Flcn C T 11: 59,694,610 (GRCm39) V121I possibly damaging Het
Fmo1 G C 1: 162,661,217 (GRCm39) Y355* probably null Het
Git2 T A 5: 114,902,727 (GRCm39) H138L probably damaging Het
Gpr162 G A 6: 124,838,658 (GRCm39) probably benign Het
Kcnd3 C T 3: 105,566,082 (GRCm39) A421V probably damaging Het
Kcnt1 T C 2: 25,797,638 (GRCm39) I881T probably damaging Het
Lama3 T A 18: 12,646,747 (GRCm39) C1754S probably damaging Het
Mpp3 A T 11: 101,914,246 (GRCm39) D116E probably benign Het
Myh11 T C 16: 14,036,747 (GRCm39) D985G probably damaging Het
Necap1 T C 6: 122,864,337 (GRCm39) V273A probably damaging Het
Nlrc5 T C 8: 95,203,192 (GRCm39) S431P probably damaging Het
Nutm2 A T 13: 50,623,920 (GRCm39) T206S probably benign Het
Or2d3 GAACAACAACAA GAACAACAA 7: 106,490,567 (GRCm39) probably benign Het
Or5p79 C T 7: 108,221,096 (GRCm39) L26F probably benign Het
Or8g19 G A 9: 39,055,725 (GRCm39) A110T probably damaging Het
Phactr2 A G 10: 13,129,564 (GRCm39) S235P probably damaging Het
Prpf38b T C 3: 108,818,487 (GRCm39) Y91C probably damaging Het
Radil C T 5: 142,480,560 (GRCm39) A632T probably benign Het
Rpap2 G A 5: 107,749,661 (GRCm39) V62I possibly damaging Het
Sdf2 C T 11: 78,141,863 (GRCm39) T66I probably damaging Het
Specc1 T C 11: 62,009,356 (GRCm39) S371P probably damaging Het
Suco T C 1: 161,674,799 (GRCm39) E416G probably damaging Het
Sys1 T C 2: 164,303,315 (GRCm39) W10R probably damaging Het
Tars3 C T 7: 65,332,567 (GRCm39) T556M probably damaging Het
Tcirg1 C T 19: 3,949,069 (GRCm39) D407N probably damaging Het
Tefm G T 11: 80,031,156 (GRCm39) L27I probably benign Het
Tenm2 A G 11: 35,918,225 (GRCm39) I1845T probably benign Het
Tfam A T 10: 71,069,233 (GRCm39) I119N probably damaging Het
Tle1 ACAGGTTTCTTCAGGTTTCTT ACAGGTTTCTT 4: 72,036,400 (GRCm39) probably benign Het
Trpm6 T C 19: 18,804,889 (GRCm39) I947T probably damaging Het
Ubqlnl C T 7: 103,798,925 (GRCm39) V191M probably benign Het
Usp54 T C 14: 20,611,202 (GRCm39) T1205A probably benign Het
Vmn2r25 T C 6: 123,805,496 (GRCm39) R454G probably damaging Het
Xylb T C 9: 119,217,781 (GRCm39) V477A probably benign Het
Other mutations in Podnl1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02738:Podnl1 APN 8 84,858,824 (GRCm39) missense probably benign 0.31
IGL03151:Podnl1 APN 8 84,858,818 (GRCm39) missense probably benign 0.44
IGL03197:Podnl1 APN 8 84,858,818 (GRCm39) missense probably benign 0.44
IGL03198:Podnl1 APN 8 84,858,818 (GRCm39) missense probably benign 0.44
IGL03225:Podnl1 APN 8 84,858,818 (GRCm39) missense probably benign 0.44
IGL03290:Podnl1 APN 8 84,858,818 (GRCm39) missense probably benign 0.44
IGL03368:Podnl1 APN 8 84,858,818 (GRCm39) missense probably benign 0.44
IGL03493:Podnl1 APN 8 84,858,818 (GRCm39) missense probably benign 0.44
PIT4472001:Podnl1 UTSW 8 84,854,477 (GRCm39) missense
R1056:Podnl1 UTSW 8 84,855,905 (GRCm39) missense probably benign 0.00
R1962:Podnl1 UTSW 8 84,853,926 (GRCm39) missense probably benign 0.04
R4412:Podnl1 UTSW 8 84,857,294 (GRCm39) missense probably benign 0.00
R4473:Podnl1 UTSW 8 84,858,614 (GRCm39) missense possibly damaging 0.89
R4715:Podnl1 UTSW 8 84,852,690 (GRCm39) start gained probably benign
R5009:Podnl1 UTSW 8 84,852,887 (GRCm39) missense probably benign 0.01
R5013:Podnl1 UTSW 8 84,852,965 (GRCm39) missense probably damaging 0.99
R5153:Podnl1 UTSW 8 84,857,272 (GRCm39) missense probably benign 0.00
R7596:Podnl1 UTSW 8 84,853,024 (GRCm39) missense
R8289:Podnl1 UTSW 8 84,858,552 (GRCm39) missense
R8343:Podnl1 UTSW 8 84,857,402 (GRCm39) missense
R8715:Podnl1 UTSW 8 84,855,956 (GRCm39) missense
Predicted Primers PCR Primer
(F):5'- AAGCCTCAAGGTTGTTTGGG -3'
(R):5'- CTCGAAATTCCACCGTACTCAG -3'

Sequencing Primer
(F):5'- TCACGGAATGGGATGTCTTC -3'
(R):5'- GTACTCAGCAGTTGTGGAAACCC -3'
Posted On 2015-07-06