Incidental Mutation 'R4166:Pigr'
ID 320561
Institutional Source Beutler Lab
Gene Symbol Pigr
Ensembl Gene ENSMUSG00000026417
Gene Name polymeric immunoglobulin receptor
Synonyms
MMRRC Submission 041639-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.058) question?
Stock # R4166 (G1)
Quality Score 225
Status Validated
Chromosome 1
Chromosomal Location 130754421-130779986 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 130769554 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Asparagine at position 122 (D122N)
Ref Sequence ENSEMBL: ENSMUSP00000121686 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000027675] [ENSMUST00000133792] [ENSMUST00000137782]
AlphaFold O70570
Predicted Effect probably benign
Transcript: ENSMUST00000027675
AA Change: D122N

PolyPhen 2 Score 0.257 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000027675
Gene: ENSMUSG00000026417
AA Change: D122N

DomainStartEndE-ValueType
signal peptide 1 18 N/A INTRINSIC
IG 25 128 1.6e-8 SMART
IG 137 238 8.1e-8 SMART
IG 242 346 1.4e-3 SMART
IG 355 457 3.1e-5 SMART
IG 469 563 1e-10 SMART
IG_like 483 548 8e-3 SMART
low complexity region 627 644 N/A INTRINSIC
transmembrane domain 646 668 N/A INTRINSIC
low complexity region 730 746 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000133792
AA Change: D122N

PolyPhen 2 Score 0.264 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000121686
Gene: ENSMUSG00000026417
AA Change: D122N

DomainStartEndE-ValueType
signal peptide 1 18 N/A INTRINSIC
IG 25 128 1.6e-8 SMART
Blast:IG 137 210 3e-47 BLAST
Predicted Effect probably benign
Transcript: ENSMUST00000137782
AA Change: D122N

PolyPhen 2 Score 0.257 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000114334
Gene: ENSMUSG00000026417
AA Change: D122N

DomainStartEndE-ValueType
signal peptide 1 18 N/A INTRINSIC
IG 25 128 3.91e-6 SMART
Blast:IG 137 201 4e-40 BLAST
Meta Mutation Damage Score 0.3843 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.4%
  • 20x: 95.8%
Validation Efficiency 100% (56/56)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is a member of the immunoglobulin superfamily. The encoded poly-Ig receptor binds polymeric immunoglobulin molecules at the basolateral surface of epithelial cells; the complex is then transported across the cell to be secreted at the apical surface. A significant association was found between immunoglobulin A nephropathy and several SNPs in this gene.[provided by RefSeq, Sep 2009]
PHENOTYPE: Nullizygous mice show impaired transepithelial transport of dimeric IgA, increased serum IgA levels and mucosal leakiness. Studies of one null allele show increased susceptibility to mycobacterial infections while another allele causes impaired clearanceof the protozoan parasite Giardia. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
3425401B19Rik T C 14: 32,382,912 (GRCm39) T1018A possibly damaging Het
Aak1 T A 6: 86,827,044 (GRCm39) F4I probably damaging Het
Adamts8 G T 9: 30,862,684 (GRCm39) E296D probably benign Het
Ankrd35 T A 3: 96,586,471 (GRCm39) probably null Het
Arhgap20 G A 9: 51,738,135 (GRCm39) probably null Het
Bhmt T A 13: 93,762,007 (GRCm39) probably benign Het
Cacna1b C A 2: 24,567,923 (GRCm39) R1055L probably benign Het
Cdk5r1 A G 11: 80,369,035 (GRCm39) Y234C probably damaging Het
Cdx2 G T 5: 147,243,539 (GRCm39) A85D possibly damaging Het
Cenpe G A 3: 134,949,479 (GRCm39) G88D probably damaging Het
Cfap300 A T 9: 8,026,071 (GRCm39) L167Q probably damaging Het
Dennd5a A C 7: 109,526,032 (GRCm39) probably null Het
Erich6 G A 3: 58,526,229 (GRCm39) A591V probably damaging Het
Espl1 A G 15: 102,221,424 (GRCm39) I944V probably damaging Het
Fbln5 A G 12: 101,723,618 (GRCm39) V374A probably damaging Het
Fmn1 G A 2: 113,467,080 (GRCm39) S1327N probably benign Het
Fnip2 A T 3: 79,369,442 (GRCm39) V1081E probably damaging Het
Gm5174 A G 10: 86,492,797 (GRCm39) noncoding transcript Het
Gpaa1 A C 15: 76,216,667 (GRCm39) probably benign Het
Grina T A 15: 76,133,529 (GRCm39) L334Q probably damaging Het
Gulp1 T A 1: 44,747,829 (GRCm39) Y27* probably null Het
Kdm3b A T 18: 34,928,797 (GRCm39) I183F probably benign Het
Loxhd1 A T 18: 77,460,025 (GRCm39) I758F probably damaging Het
Msi2 T C 11: 88,237,914 (GRCm39) H346R probably benign Het
Naip6 T A 13: 100,452,657 (GRCm39) I135F probably benign Het
Npr3 T G 15: 11,848,599 (GRCm39) E202A probably benign Het
Nsun4 A T 4: 115,891,248 (GRCm39) L377Q probably damaging Het
Oog2 A C 4: 143,921,411 (GRCm39) H107P probably damaging Het
Or14c40 C A 7: 86,313,602 (GRCm39) T244N probably damaging Het
Otof A G 5: 30,539,762 (GRCm39) L1032P probably damaging Het
Pcdh9 T A 14: 94,124,956 (GRCm39) R405* probably null Het
Pcdhb19 T A 18: 37,632,243 (GRCm39) N679K probably benign Het
Prol1 A T 5: 88,476,530 (GRCm39) I307F unknown Het
Pycr1 T C 11: 120,532,949 (GRCm39) I104V probably benign Het
Ralgapa1 C T 12: 55,687,429 (GRCm39) R2019Q probably damaging Het
Rb1cc1 T C 1: 6,335,887 (GRCm39) probably benign Het
Skint11 C A 4: 114,101,856 (GRCm39) Q99K probably benign Het
Skint3 A G 4: 112,112,832 (GRCm39) I147M possibly damaging Het
Slc22a14 T G 9: 119,007,498 (GRCm39) M304L probably benign Het
Slc22a14 T C 9: 119,008,934 (GRCm39) N178S possibly damaging Het
Slc2a1 T G 4: 118,990,313 (GRCm39) I179S probably damaging Het
Slco2b1 G T 7: 99,309,333 (GRCm39) T666N probably benign Het
Smap1 T C 1: 23,887,506 (GRCm39) M258V probably benign Het
Smr3a A T 5: 88,156,013 (GRCm39) probably benign Het
Stt3b T A 9: 115,083,969 (GRCm39) E402D probably damaging Het
Sync T C 4: 129,200,535 (GRCm39) probably benign Het
Tbx20 T A 9: 24,681,040 (GRCm39) I151F probably damaging Het
Tomm22 C A 15: 79,555,206 (GRCm39) probably benign Het
Trank1 C A 9: 111,202,592 (GRCm39) Y1652* probably null Het
Trim34a T A 7: 103,910,223 (GRCm39) C342S probably benign Het
Txnl4a T A 18: 80,265,471 (GRCm39) M112K probably benign Het
Zfp146 A G 7: 29,861,865 (GRCm39) V59A possibly damaging Het
Other mutations in Pigr
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00815:Pigr APN 1 130,762,167 (GRCm39) start codon destroyed probably null 1.00
IGL01565:Pigr APN 1 130,772,211 (GRCm39) missense possibly damaging 0.93
IGL01592:Pigr APN 1 130,776,795 (GRCm39) missense probably damaging 1.00
IGL02153:Pigr APN 1 130,776,793 (GRCm39) splice site probably null
IGL02508:Pigr APN 1 130,778,595 (GRCm39) missense probably benign 0.02
IGL02815:Pigr APN 1 130,769,558 (GRCm39) missense probably damaging 1.00
R0834:Pigr UTSW 1 130,772,281 (GRCm39) nonsense probably null
R1453:Pigr UTSW 1 130,769,281 (GRCm39) missense probably benign 0.00
R1728:Pigr UTSW 1 130,772,259 (GRCm39) missense possibly damaging 0.50
R1729:Pigr UTSW 1 130,772,259 (GRCm39) missense possibly damaging 0.50
R1730:Pigr UTSW 1 130,772,259 (GRCm39) missense possibly damaging 0.50
R1736:Pigr UTSW 1 130,769,540 (GRCm39) missense possibly damaging 0.71
R1739:Pigr UTSW 1 130,772,259 (GRCm39) missense possibly damaging 0.50
R1742:Pigr UTSW 1 130,772,823 (GRCm39) missense probably damaging 1.00
R1762:Pigr UTSW 1 130,772,259 (GRCm39) missense possibly damaging 0.50
R1783:Pigr UTSW 1 130,772,259 (GRCm39) missense possibly damaging 0.50
R1784:Pigr UTSW 1 130,772,259 (GRCm39) missense possibly damaging 0.50
R1785:Pigr UTSW 1 130,772,259 (GRCm39) missense possibly damaging 0.50
R1929:Pigr UTSW 1 130,774,399 (GRCm39) unclassified probably benign
R2065:Pigr UTSW 1 130,778,617 (GRCm39) missense probably benign 0.20
R2275:Pigr UTSW 1 130,774,207 (GRCm39) missense probably benign 0.00
R2513:Pigr UTSW 1 130,774,357 (GRCm39) missense possibly damaging 0.71
R2910:Pigr UTSW 1 130,777,270 (GRCm39) missense probably damaging 1.00
R2911:Pigr UTSW 1 130,777,270 (GRCm39) missense probably damaging 1.00
R2964:Pigr UTSW 1 130,769,272 (GRCm39) missense probably damaging 1.00
R3857:Pigr UTSW 1 130,774,998 (GRCm39) missense probably benign 0.06
R4165:Pigr UTSW 1 130,769,554 (GRCm39) missense probably benign 0.26
R4303:Pigr UTSW 1 130,769,554 (GRCm39) missense probably benign 0.26
R4735:Pigr UTSW 1 130,774,291 (GRCm39) missense probably damaging 0.99
R4909:Pigr UTSW 1 130,776,195 (GRCm39) missense possibly damaging 0.77
R4993:Pigr UTSW 1 130,769,554 (GRCm39) missense probably benign 0.26
R4994:Pigr UTSW 1 130,769,554 (GRCm39) missense probably benign 0.26
R5033:Pigr UTSW 1 130,772,436 (GRCm39) missense probably damaging 1.00
R5116:Pigr UTSW 1 130,776,768 (GRCm39) missense probably benign 0.00
R5304:Pigr UTSW 1 130,777,230 (GRCm39) missense probably benign 0.00
R5440:Pigr UTSW 1 130,777,359 (GRCm39) splice site probably null
R5853:Pigr UTSW 1 130,774,341 (GRCm39) nonsense probably null
R5934:Pigr UTSW 1 130,772,264 (GRCm39) missense probably damaging 0.98
R6015:Pigr UTSW 1 130,774,998 (GRCm39) missense probably benign 0.06
R6291:Pigr UTSW 1 130,769,498 (GRCm39) missense probably benign 0.06
R6749:Pigr UTSW 1 130,774,285 (GRCm39) missense probably benign 0.14
R6941:Pigr UTSW 1 130,775,064 (GRCm39) missense probably damaging 1.00
R7369:Pigr UTSW 1 130,769,503 (GRCm39) missense probably benign 0.00
R7391:Pigr UTSW 1 130,777,303 (GRCm39) missense probably damaging 1.00
R7564:Pigr UTSW 1 130,769,403 (GRCm39) missense possibly damaging 0.67
R7760:Pigr UTSW 1 130,774,368 (GRCm39) missense possibly damaging 0.59
R7995:Pigr UTSW 1 130,769,423 (GRCm39) missense probably damaging 1.00
R8094:Pigr UTSW 1 130,774,247 (GRCm39) missense probably damaging 1.00
R8096:Pigr UTSW 1 130,774,247 (GRCm39) missense probably damaging 1.00
R9068:Pigr UTSW 1 130,774,231 (GRCm39) missense probably damaging 0.96
R9312:Pigr UTSW 1 130,762,185 (GRCm39) missense probably benign 0.16
R9460:Pigr UTSW 1 130,772,403 (GRCm39) missense probably damaging 1.00
R9578:Pigr UTSW 1 130,777,350 (GRCm39) missense probably benign 0.36
R9743:Pigr UTSW 1 130,769,540 (GRCm39) missense possibly damaging 0.71
Z1176:Pigr UTSW 1 130,778,552 (GRCm39) missense possibly damaging 0.76
Predicted Primers PCR Primer
(F):5'- CGCTCATCTCTTCAAATGGC -3'
(R):5'- ACGACATGGTAAGTCTCACCC -3'

Sequencing Primer
(F):5'- TTCAAATGGCTACCTCTCCAAG -3'
(R):5'- GACATGGTAAGTCTCACCCATTCC -3'
Posted On 2015-06-12