Incidental Mutation 'IGL02153:Pigr'
ID282137
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Pigr
Ensembl Gene ENSMUSG00000026417
Gene Namepolymeric immunoglobulin receptor
Synonyms
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.071) question?
Stock #IGL02153
Quality Score
Status
Chromosome1
Chromosomal Location130826684-130852249 bp(+) (GRCm38)
Type of Mutationsplice site (4408 bp from exon)
DNA Base Change (assembly) T to A at 130849056 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000114334 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000027675] [ENSMUST00000133792] [ENSMUST00000137782]
Predicted Effect probably damaging
Transcript: ENSMUST00000027675
AA Change: L656Q

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000027675
Gene: ENSMUSG00000026417
AA Change: L656Q

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 null
Transcript: ENSMUST00000133792
SMART Domains Protein: ENSMUSP00000121686
Gene: ENSMUSG00000026417

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 null
Transcript: ENSMUST00000137782
SMART Domains Protein: ENSMUSP00000114334
Gene: ENSMUSG00000026417

DomainStartEndE-ValueType
signal peptide 1 18 N/A INTRINSIC
IG 25 128 3.91e-6 SMART
Blast:IG 137 201 4e-40 BLAST
Coding Region Coverage
Validation Efficiency
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: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
6820408C15Rik T C 2: 152,441,241 I275T probably benign Het
BC005561 A G 5: 104,521,083 E1157G probably benign Het
Chd9 A T 8: 90,956,494 K521* probably null Het
Csn3 A T 5: 87,930,097 N154I possibly damaging Het
Dock2 A G 11: 34,230,670 S1716P probably benign Het
Dock7 A T 4: 98,958,067 S18T probably benign Het
Esrra G A 19: 6,913,822 T190I probably benign Het
F13b T C 1: 139,516,377 I483T probably damaging Het
Foxb1 T A 9: 69,759,703 M182L probably benign Het
Fsip2 T C 2: 82,978,721 F1795L probably benign Het
Gkn2 G A 6: 87,373,408 probably null Het
Gm8439 G A 4: 120,609,590 A93T unknown Het
Ift22 T C 5: 136,911,696 S72P probably benign Het
Kcnmb2 A G 3: 32,178,844 K24E probably damaging Het
Kcnq3 C A 15: 66,025,191 V287L probably damaging Het
Lrriq1 T A 10: 103,170,479 M1262L probably benign Het
Mb21d2 A G 16: 28,929,488 I59T probably benign Het
Mogat2 A T 7: 99,223,554 M141K possibly damaging Het
Mtdh C T 15: 34,131,250 L409F possibly damaging Het
Muc5ac C T 7: 141,818,800 Q2724* probably null Het
Myo15 T G 11: 60,498,397 L2040R probably damaging Het
Nodal C T 10: 61,424,545 T325I probably damaging Het
Pappa A T 4: 65,297,437 T1194S probably damaging Het
Pcdhb13 A C 18: 37,443,685 D372A probably damaging Het
Phf14 T A 6: 11,934,016 N292K probably damaging Het
Plcb1 T C 2: 135,387,853 I1131T probably benign Het
Plch1 T A 3: 63,781,351 D132V probably damaging Het
Plxnb2 C A 15: 89,165,813 E502* probably null Het
Prox2 T C 12: 85,087,929 N526S probably damaging Het
Rdm1 T A 11: 101,628,454 probably null Het
Rxfp1 C T 3: 79,660,120 E308K probably benign Het
Sgca T C 11: 94,963,284 T120A probably damaging Het
Sh3tc1 G A 5: 35,703,352 R1054W probably damaging Het
Smarcal1 C T 1: 72,633,055 probably benign Het
Spata45 T A 1: 191,039,761 M60K probably benign Het
St8sia6 T C 2: 13,656,905 M372V probably damaging Het
Tas2r126 T G 6: 42,434,664 S44A probably benign Het
Tcea3 T A 4: 136,273,634 probably benign Het
Tln1 T C 4: 43,546,857 I840V possibly damaging Het
Ttn T C 2: 76,898,341 probably benign Het
Ubr4 T A 4: 139,460,160 Y3846* probably null Het
Usp47 G A 7: 112,104,049 D1171N probably benign Het
Vmn2r114 G A 17: 23,291,808 T566I probably benign Het
Wdr35 G A 12: 9,008,535 R575Q probably null Het
Xkr5 A T 8: 18,933,667 C454S probably benign Het
Other mutations in Pigr
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00815:Pigr APN 1 130834430 start codon destroyed probably null 1.00
IGL01565:Pigr APN 1 130844474 missense possibly damaging 0.93
IGL01592:Pigr APN 1 130849058 missense probably damaging 1.00
IGL02508:Pigr APN 1 130850858 missense probably benign 0.02
IGL02815:Pigr APN 1 130841821 missense probably damaging 1.00
R0834:Pigr UTSW 1 130844544 nonsense probably null
R1453:Pigr UTSW 1 130841544 missense probably benign 0.00
R1728:Pigr UTSW 1 130844522 missense possibly damaging 0.50
R1729:Pigr UTSW 1 130844522 missense possibly damaging 0.50
R1730:Pigr UTSW 1 130844522 missense possibly damaging 0.50
R1736:Pigr UTSW 1 130841803 missense possibly damaging 0.92
R1739:Pigr UTSW 1 130844522 missense possibly damaging 0.50
R1742:Pigr UTSW 1 130845086 missense probably damaging 1.00
R1762:Pigr UTSW 1 130844522 missense possibly damaging 0.50
R1783:Pigr UTSW 1 130844522 missense possibly damaging 0.50
R1784:Pigr UTSW 1 130844522 missense possibly damaging 0.50
R1785:Pigr UTSW 1 130844522 missense possibly damaging 0.50
R1929:Pigr UTSW 1 130846662 unclassified probably benign
R2065:Pigr UTSW 1 130850880 missense probably benign 0.20
R2275:Pigr UTSW 1 130846470 missense probably benign 0.00
R2513:Pigr UTSW 1 130846620 missense possibly damaging 0.71
R2910:Pigr UTSW 1 130849533 missense probably damaging 1.00
R2911:Pigr UTSW 1 130849533 missense probably damaging 1.00
R2964:Pigr UTSW 1 130841535 missense probably damaging 1.00
R3857:Pigr UTSW 1 130847261 missense probably benign 0.06
R4165:Pigr UTSW 1 130841817 missense probably benign 0.26
R4166:Pigr UTSW 1 130841817 missense probably benign 0.26
R4303:Pigr UTSW 1 130841817 missense probably benign 0.26
R4735:Pigr UTSW 1 130846554 missense probably damaging 0.99
R4909:Pigr UTSW 1 130848458 missense possibly damaging 0.77
R4993:Pigr UTSW 1 130841817 missense probably benign 0.26
R4994:Pigr UTSW 1 130841817 missense probably benign 0.26
R5033:Pigr UTSW 1 130844699 missense probably damaging 1.00
R5116:Pigr UTSW 1 130849031 missense probably benign 0.00
R5304:Pigr UTSW 1 130849493 missense probably benign 0.00
R5440:Pigr UTSW 1 130849622 splice site probably null
R5853:Pigr UTSW 1 130846604 nonsense probably null
R5934:Pigr UTSW 1 130844527 missense probably damaging 0.98
R6015:Pigr UTSW 1 130847261 missense probably benign 0.06
R6291:Pigr UTSW 1 130841761 missense probably benign 0.06
R6749:Pigr UTSW 1 130846548 missense probably benign 0.14
R6941:Pigr UTSW 1 130847327 missense probably damaging 1.00
R7369:Pigr UTSW 1 130841766 missense probably benign 0.00
R7391:Pigr UTSW 1 130849566 missense probably damaging 1.00
R7564:Pigr UTSW 1 130841666 missense possibly damaging 0.67
R7760:Pigr UTSW 1 130846631 missense possibly damaging 0.59
R7995:Pigr UTSW 1 130841686 missense probably damaging 1.00
R8094:Pigr UTSW 1 130846510 missense probably damaging 1.00
R8096:Pigr UTSW 1 130846510 missense probably damaging 1.00
Z1176:Pigr UTSW 1 130850815 missense possibly damaging 0.76
Posted On2015-04-16