Incidental Mutation 'R0196:Podn'
ID 23422
Institutional Source Beutler Lab
Gene Symbol Podn
Ensembl Gene ENSMUSG00000028600
Gene Name podocan
Synonyms SLRR5A
MMRRC Submission 038455-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R0196 (G1)
Quality Score 214
Status Not validated
Chromosome 4
Chromosomal Location 107871990-107889151 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 107878695 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Aspartic acid at position 246 (N246D)
Ref Sequence ENSEMBL: ENSMUSP00000121478 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000044248] [ENSMUST00000106708] [ENSMUST00000106709] [ENSMUST00000146851]
AlphaFold Q7TQ62
Predicted Effect probably damaging
Transcript: ENSMUST00000044248
AA Change: N391D

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000048962
Gene: ENSMUSG00000028600
AA Change: N391D

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: N391D

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000102319
Gene: ENSMUSG00000028600
AA Change: N391D

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: N391D

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000102320
Gene: ENSMUSG00000028600
AA Change: N391D

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 unknown
Transcript: ENSMUST00000130026
AA Change: N10D
SMART Domains Protein: ENSMUSP00000123184
Gene: ENSMUSG00000028600
AA Change: N10D

DomainStartEndE-ValueType
LRR 27 49 1.53e2 SMART
LRR_TYP 50 73 7.37e-4 SMART
LRR 95 120 1.66e1 SMART
LRR 121 139 3.09e2 SMART
low complexity region 188 203 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000145491
Predicted Effect probably damaging
Transcript: ENSMUST00000146851
AA Change: N246D

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000121478
Gene: ENSMUSG00000028600
AA Change: N246D

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
Coding Region Coverage
  • 1x: 98.8%
  • 3x: 97.7%
  • 10x: 93.8%
  • 20x: 81.8%
Validation Efficiency
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: 76 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933409G03Rik A G 2: 68,446,591 (GRCm39) probably benign Het
Aass G A 6: 23,109,519 (GRCm39) P317L probably damaging Het
Abca12 T A 1: 71,298,972 (GRCm39) N2313I possibly damaging Het
Adamts12 T C 15: 11,071,594 (GRCm39) I46T probably benign Het
Adipoq T G 16: 22,965,393 (GRCm39) probably null Het
Amy1 A T 3: 113,363,070 (GRCm39) D92E probably benign Het
Asb15 G A 6: 24,564,392 (GRCm39) R282Q probably damaging Het
Bag6 G C 17: 35,363,239 (GRCm39) G693A probably damaging Het
Birc6 T C 17: 74,887,282 (GRCm39) I870T possibly damaging Het
Cand2 A G 6: 115,766,463 (GRCm39) K356R probably damaging Het
Cbfa2t3 T C 8: 123,360,076 (GRCm39) Q525R possibly damaging Het
Cd4 T C 6: 124,844,769 (GRCm39) R339G probably damaging Het
Cdh8 A G 8: 99,917,066 (GRCm39) S350P probably damaging Het
Cep295 A T 9: 15,249,509 (GRCm39) S469T probably damaging Het
Ckap2l A T 2: 129,127,342 (GRCm39) S279T probably benign Het
Clnk T A 5: 38,927,282 (GRCm39) N66Y probably damaging Het
Col27a1 A T 4: 63,142,503 (GRCm39) T64S probably benign Het
Crtc1 T C 8: 70,838,871 (GRCm39) D599G probably damaging Het
Cyp2c23 A C 19: 44,000,795 (GRCm39) I363S probably damaging Het
Dnah10 A T 5: 124,911,139 (GRCm39) I4519F possibly damaging Het
Dner T A 1: 84,348,553 (GRCm39) I716F probably damaging Het
Dsel T G 1: 111,789,333 (GRCm39) T401P possibly damaging Het
Egfr A G 11: 16,861,746 (GRCm39) D1175G probably benign Het
Ephb3 A T 16: 21,036,804 (GRCm39) N343I probably damaging Het
Fbxw10 T A 11: 62,768,070 (GRCm39) F974I probably benign Het
Gfi1b T C 2: 28,503,786 (GRCm39) Y138C probably damaging Het
Gm11168 T A 9: 3,005,175 (GRCm39) L6H probably benign Het
Grb10 A C 11: 11,895,583 (GRCm39) V247G probably damaging Het
Gstp2 A T 19: 4,090,514 (GRCm39) probably null Het
Hars2 C T 18: 36,922,257 (GRCm39) Q291* probably null Het
Hyal4 G T 6: 24,756,220 (GRCm39) W146L probably damaging Het
Il22ra1 C T 4: 135,461,556 (GRCm39) T107I possibly damaging Het
Itga8 A G 2: 12,209,540 (GRCm39) probably null Het
Klhl25 T C 7: 75,515,450 (GRCm39) S119P probably damaging Het
Krt81 C A 15: 101,361,508 (GRCm39) R24L possibly damaging Het
Lrrc8c T C 5: 105,754,636 (GRCm39) V137A probably benign Het
Macrod2 A T 2: 142,018,545 (GRCm39) E226V probably damaging Het
Mcemp1 A T 8: 3,718,201 (GRCm39) Q165L probably benign Het
Mcpt9 T A 14: 56,265,453 (GRCm39) K82M probably benign Het
Mpzl3 A G 9: 44,973,458 (GRCm39) T66A probably damaging Het
Msh6 G A 17: 88,287,788 (GRCm39) V143I possibly damaging Het
Mug1 G A 6: 121,815,684 (GRCm39) probably null Het
Ncr1 G T 7: 4,343,972 (GRCm39) C153F probably damaging Het
Nf1 T A 11: 79,359,595 (GRCm39) M1411K possibly damaging Het
Nf1 T A 11: 79,469,098 (GRCm39) V786D probably damaging Het
Nisch T C 14: 30,925,351 (GRCm39) probably benign Het
Nwd2 T A 5: 63,963,694 (GRCm39) Y1093N probably benign Het
Oas3 G A 5: 120,894,210 (GRCm39) R39C probably damaging Het
Or1e32 A T 11: 73,705,731 (GRCm39) M59K probably damaging Het
Or7a36 C T 10: 78,820,023 (GRCm39) T133I possibly damaging Het
Oxa1l T C 14: 54,600,944 (GRCm39) I139T probably damaging Het
P3h3 T A 6: 124,822,235 (GRCm39) N583Y probably damaging Het
Pcdh18 A T 3: 49,711,147 (GRCm39) probably null Het
Pcnp C T 16: 55,844,896 (GRCm39) probably benign Het
Pdzd8 G T 19: 59,289,563 (GRCm39) D612E probably benign Het
Pi4kb T C 3: 94,906,261 (GRCm39) S8P probably damaging Het
Pikfyve T G 1: 65,295,231 (GRCm39) V1454G possibly damaging Het
Prg4 T C 1: 150,330,243 (GRCm39) probably benign Het
R3hdm2 T C 10: 127,320,390 (GRCm39) Y523H probably damaging Het
Rpf1 T A 3: 146,213,904 (GRCm39) E231V possibly damaging Het
Slc16a10 C T 10: 39,932,611 (GRCm39) E317K probably benign Het
Slc34a1 A T 13: 55,560,078 (GRCm39) I435F probably damaging Het
Snx19 A G 9: 30,344,683 (GRCm39) D629G probably damaging Het
Tomm70a T C 16: 56,966,463 (GRCm39) I472T probably benign Het
Trp53 A G 11: 69,479,506 (GRCm39) Y202C probably damaging Het
Ttc14 T A 3: 33,863,403 (GRCm39) probably benign Het
Ugt1a1 C T 1: 88,140,277 (GRCm39) A185V possibly damaging Het
Usp28 A G 9: 48,939,578 (GRCm39) D655G probably damaging Het
Vmn1r215 C T 13: 23,260,254 (GRCm39) T98I probably damaging Het
Vmn2r121 G T X: 123,041,879 (GRCm39) T426N probably benign Het
Vmn2r99 A G 17: 19,614,835 (GRCm39) N852D probably benign Het
Xrn2 T A 2: 146,889,580 (GRCm39) D654E probably damaging Het
Yju2 C A 17: 56,271,653 (GRCm39) D191E probably damaging Het
Zfp335 C G 2: 164,738,065 (GRCm39) A849P possibly damaging Het
Zfp954 C T 7: 7,118,390 (GRCm39) V385M probably damaging Het
Zmynd15 A G 11: 70,355,052 (GRCm39) T350A 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
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
R6317:Podn UTSW 4 107,884,357 (GRCm39) missense probably damaging 0.99
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'- TTGCAGACGGTTGCCAGACAAG -3'
(R):5'- TGTCCAGCAACAACCTGTCGAG -3'

Sequencing Primer
(F):5'- TTGCCAGACAAGTCAAGTGAAC -3'
(R):5'- AAGCTGATGTGCTGACACC -3'
Posted On 2013-04-16