Incidental Mutation 'R6317:Podn'
ID 510020
Institutional Source Beutler Lab
Gene Symbol Podn
Ensembl Gene ENSMUSG00000028600
Gene Name podocan
Synonyms SLRR5A
MMRRC Submission 044417-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R6317 (G1)
Quality Score 225.009
Status Validated
Chromosome 4
Chromosomal Location 107871990-107889151 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 107884357 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Serine at position 44 (F44S)
Ref Sequence ENSEMBL: ENSMUSP00000102320 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000044248] [ENSMUST00000106708] [ENSMUST00000106709] [ENSMUST00000146851]
AlphaFold Q7TQ62
Predicted Effect probably damaging
Transcript: ENSMUST00000044248
AA Change: F44S

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000048962
Gene: ENSMUSG00000028600
AA Change: F44S

DomainStartEndE-ValueType
signal peptide 1 23 N/A INTRINSIC
low complexity region 40 49 N/A INTRINSIC
LRRNT 68 101 4.34e-5 SMART
LRR_TYP 120 145 2.05e-2 SMART
LRR 146 169 1.19e1 SMART
LRR 192 216 2.84e1 SMART
LRR 239 261 6.22e0 SMART
LRR 262 287 3.47e0 SMART
LRR_TYP 288 311 7.9e-4 SMART
LRR 333 358 1.26e1 SMART
LRR 359 382 2.82e0 SMART
LRR 407 429 1.53e2 SMART
LRR_TYP 430 453 7.37e-4 SMART
LRR 475 500 1.66e1 SMART
LRR 501 522 1.29e1 SMART
LRR_TYP 523 545 7.67e-2 SMART
low complexity region 594 609 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000106708
AA Change: F44S

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000102319
Gene: ENSMUSG00000028600
AA Change: F44S

DomainStartEndE-ValueType
signal peptide 1 23 N/A INTRINSIC
low complexity region 40 49 N/A INTRINSIC
LRRNT 68 101 4.34e-5 SMART
LRR_TYP 120 145 2.05e-2 SMART
LRR 146 169 1.19e1 SMART
LRR 192 216 2.84e1 SMART
LRR 239 261 6.22e0 SMART
LRR 262 287 3.47e0 SMART
LRR_TYP 288 311 7.9e-4 SMART
LRR 333 358 1.26e1 SMART
LRR 359 382 2.82e0 SMART
LRR 407 429 1.53e2 SMART
LRR_TYP 430 453 7.37e-4 SMART
LRR 475 500 1.66e1 SMART
LRR 501 522 1.29e1 SMART
LRR_TYP 523 545 7.67e-2 SMART
low complexity region 594 609 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000106709
AA Change: F44S

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000102320
Gene: ENSMUSG00000028600
AA Change: F44S

DomainStartEndE-ValueType
signal peptide 1 23 N/A INTRINSIC
low complexity region 40 49 N/A INTRINSIC
LRRNT 68 101 4.34e-5 SMART
LRR_TYP 120 145 2.05e-2 SMART
LRR 146 169 1.19e1 SMART
LRR 192 216 2.84e1 SMART
LRR 239 261 6.22e0 SMART
LRR 262 287 3.47e0 SMART
LRR_TYP 288 311 7.9e-4 SMART
LRR 333 358 1.26e1 SMART
LRR 359 382 2.82e0 SMART
LRR 407 429 1.53e2 SMART
LRR_TYP 430 453 7.37e-4 SMART
LRR 475 500 1.66e1 SMART
LRR 501 522 1.29e1 SMART
LRR_TYP 523 545 7.67e-2 SMART
low complexity region 594 609 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000124265
Predicted Effect noncoding transcript
Transcript: ENSMUST00000145491
Predicted Effect probably benign
Transcript: ENSMUST00000146851
SMART Domains Protein: ENSMUSP00000121478
Gene: ENSMUSG00000028600

DomainStartEndE-ValueType
LRR 1 24 1.19e1 SMART
LRR 47 71 2.84e1 SMART
LRR 94 116 6.22e0 SMART
LRR 117 142 3.47e0 SMART
LRR_TYP 143 166 7.9e-4 SMART
LRR 188 213 1.26e1 SMART
LRR 214 237 2.82e0 SMART
LRR 262 284 1.53e2 SMART
LRR_TYP 285 308 7.37e-4 SMART
low complexity region 319 334 N/A INTRINSIC
low complexity region 359 364 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000147597
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.4%
  • 20x: 98.2%
Validation Efficiency 100% (62/62)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a member of the small leucine-rich repeat protein family and contains an amino terminal CX3CXCX7C cysteine-rich cluster followed by a leucine-rich repeat domain. Studies suggest that this protein could function to inhibit smooth muscle cell proliferation and migration following arterial injury. [provided by RefSeq, Jul 2016]
Allele List at MGI
Other mutations in this stock
Total: 61 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930503L19Rik T C 18: 70,601,264 (GRCm39) N206S probably damaging Het
Abcf2 A T 5: 24,774,156 (GRCm39) Y315* probably null Het
Adck1 T G 12: 88,368,921 (GRCm39) V133G probably damaging Het
Aoc2 T C 11: 101,216,292 (GRCm39) F125S probably damaging Het
As3mt A G 19: 46,713,410 (GRCm39) D319G probably benign Het
Atp1a2 C G 1: 172,116,903 (GRCm39) R238P probably damaging Het
Baz1a T C 12: 55,001,585 (GRCm39) Q145R possibly damaging Het
Bhlhe22 A G 3: 18,109,778 (GRCm39) E276G probably damaging Het
Cdo1 C A 18: 46,861,104 (GRCm39) V36L probably benign Het
Ces1h A G 8: 94,084,046 (GRCm39) F388S unknown Het
Col6a5 T A 9: 105,766,266 (GRCm39) N1885Y probably damaging Het
Corin A T 5: 72,496,388 (GRCm39) C522S probably damaging Het
Csmd1 G T 8: 16,760,658 (GRCm39) T159K possibly damaging Het
Cspg4b T A 13: 113,504,802 (GRCm39) L1977H probably benign Het
Cwc27 T A 13: 104,940,769 (GRCm39) K197* probably null Het
Cyp20a1 T C 1: 60,391,283 (GRCm39) S26P probably damaging Het
Daxx T A 17: 34,130,949 (GRCm39) D321E probably damaging Het
Gria2 A C 3: 80,648,311 (GRCm39) Y142D possibly damaging Het
Gspt1 T C 16: 11,041,072 (GRCm39) probably null Het
Ighv1-80 A T 12: 115,876,265 (GRCm39) V17D probably damaging Het
Ints4 T A 7: 97,178,425 (GRCm39) L675* probably null Het
Kif13a C T 13: 46,980,233 (GRCm39) R173Q probably damaging Het
Map3k2 T C 18: 32,336,086 (GRCm39) I91T probably damaging Het
Map3k8 A G 18: 4,348,979 (GRCm39) probably null Het
Mcemp1 G A 8: 3,717,284 (GRCm39) W101* probably null Het
Naca T C 10: 127,879,993 (GRCm39) I1675T probably benign Het
Nol9 T C 4: 152,125,514 (GRCm39) F155S probably damaging Het
Obscn C A 11: 58,960,721 (GRCm39) D3406Y probably damaging Het
Obsl1 A G 1: 75,466,273 (GRCm39) V1485A possibly damaging Het
Oga A T 19: 45,760,119 (GRCm39) probably null Het
Or8a1 T C 9: 37,641,725 (GRCm39) K185E possibly damaging Het
Otog C A 7: 45,950,639 (GRCm39) P337H probably damaging Het
Patl1 T C 19: 11,898,242 (GRCm39) L140P probably damaging Het
Pcca G A 14: 122,820,035 (GRCm39) V60M probably damaging Het
Pex11g G T 8: 3,514,092 (GRCm39) D23E probably damaging Het
Phactr2 A T 10: 13,137,626 (GRCm39) M172K probably damaging Het
Plce1 G A 19: 38,512,974 (GRCm39) W91* probably null Het
Plch1 C T 3: 63,688,811 (GRCm39) W131* probably null Het
Polr3e A G 7: 120,527,205 (GRCm39) D87G possibly damaging Het
Prmt2 T A 10: 76,058,351 (GRCm39) I153F probably benign Het
Prpf6 T C 2: 181,273,229 (GRCm39) V258A probably benign Het
Ptpn21 G T 12: 98,655,521 (GRCm39) A482E probably damaging Het
Qrich1 A T 9: 108,411,491 (GRCm39) N339Y probably damaging Het
Rabgap1 T A 2: 37,432,659 (GRCm39) V750D possibly damaging Het
Reg3d G A 6: 78,354,428 (GRCm39) P58S probably damaging Het
Rp1 A G 1: 4,112,212 (GRCm39) L1213P unknown Het
Sema6b A G 17: 56,431,047 (GRCm39) L872S probably benign Het
Serpinb7 T C 1: 107,379,436 (GRCm39) I281T probably damaging Het
Shank2 T C 7: 143,838,821 (GRCm39) V685A possibly damaging Het
Slc28a2 A G 2: 122,284,980 (GRCm39) I323V possibly damaging Het
Slc7a6 A T 8: 106,919,099 (GRCm39) I228F probably damaging Het
Slc9a9 A G 9: 94,821,512 (GRCm39) T300A possibly damaging Het
Spta1 A G 1: 174,068,653 (GRCm39) N2151S probably damaging Het
Sult2a1 T A 7: 13,569,945 (GRCm39) I96L probably benign Het
Tgm2 T C 2: 157,966,070 (GRCm39) D528G probably benign Het
Ubl7 T C 9: 57,818,456 (GRCm39) probably null Het
Vcan T A 13: 89,839,716 (GRCm39) I983L probably benign Het
Vmn1r172 T C 7: 23,359,742 (GRCm39) L209P probably damaging Het
Vmn1r181 G A 7: 23,684,183 (GRCm39) R216Q probably benign Het
Vmn1r3 T C 4: 3,184,993 (GRCm39) S105G probably benign Het
Zfp644 A T 5: 106,783,711 (GRCm39) H945Q probably damaging Het
Other mutations in Podn
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00963:Podn APN 4 107,879,371 (GRCm39) missense probably damaging 1.00
IGL01569:Podn APN 4 107,881,496 (GRCm39) missense probably damaging 1.00
IGL02950:Podn APN 4 107,875,048 (GRCm39) missense possibly damaging 0.65
R0119:Podn UTSW 4 107,878,791 (GRCm39) missense probably damaging 1.00
R0196:Podn UTSW 4 107,878,695 (GRCm39) missense probably damaging 1.00
R0499:Podn UTSW 4 107,878,791 (GRCm39) missense probably damaging 1.00
R1539:Podn UTSW 4 107,878,764 (GRCm39) missense probably damaging 1.00
R1705:Podn UTSW 4 107,875,055 (GRCm39) missense probably benign 0.24
R2018:Podn UTSW 4 107,880,570 (GRCm39) missense probably damaging 1.00
R2120:Podn UTSW 4 107,880,558 (GRCm39) missense probably damaging 1.00
R2156:Podn UTSW 4 107,878,892 (GRCm39) missense probably damaging 1.00
R2170:Podn UTSW 4 107,879,730 (GRCm39) missense probably damaging 1.00
R2200:Podn UTSW 4 107,879,787 (GRCm39) missense probably damaging 0.99
R2384:Podn UTSW 4 107,879,269 (GRCm39) missense probably damaging 1.00
R4285:Podn UTSW 4 107,878,893 (GRCm39) missense possibly damaging 0.69
R4606:Podn UTSW 4 107,875,064 (GRCm39) missense probably benign 0.07
R5051:Podn UTSW 4 107,872,043 (GRCm39) missense probably benign 0.15
R5945:Podn UTSW 4 107,878,910 (GRCm39) missense possibly damaging 0.88
R6366:Podn UTSW 4 107,876,001 (GRCm39) missense possibly damaging 0.95
R6830:Podn UTSW 4 107,878,614 (GRCm39) missense possibly damaging 0.96
R6983:Podn UTSW 4 107,881,470 (GRCm39) splice site probably null
R7325:Podn UTSW 4 107,874,899 (GRCm39) splice site probably null
R7456:Podn UTSW 4 107,875,002 (GRCm39) missense probably benign 0.05
R7516:Podn UTSW 4 107,879,321 (GRCm39) missense probably damaging 1.00
R9047:Podn UTSW 4 107,878,743 (GRCm39) missense probably damaging 0.99
R9048:Podn UTSW 4 107,878,596 (GRCm39) missense probably damaging 1.00
R9495:Podn UTSW 4 107,876,106 (GRCm39) missense probably benign
R9657:Podn UTSW 4 107,884,231 (GRCm39) missense probably damaging 0.98
X0004:Podn UTSW 4 107,878,764 (GRCm39) missense probably benign 0.39
Predicted Primers PCR Primer
(F):5'- CCTGCAAGGAGAGATGGTTG -3'
(R):5'- CATGACCTATCGTGACTGCC -3'

Sequencing Primer
(F):5'- CAAGGAGAGATGGTTGGTGTGC -3'
(R):5'- GACTGCCTGTATACATGCCCAG -3'
Posted On 2018-04-02