Incidental Mutation 'R4993:Pigr'
ID 384964
Institutional Source Beutler Lab
Gene Symbol Pigr
Ensembl Gene ENSMUSG00000026417
Gene Name polymeric immunoglobulin receptor
Synonyms
MMRRC Submission 042587-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.058) question?
Stock # R4993 (G1)
Quality Score 209
Status Not 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: 98.5%
  • 10x: 96.8%
  • 20x: 94.0%
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: 91 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930505A04Rik C T 11: 30,376,349 (GRCm39) V173M probably damaging Het
9130008F23Rik G T 17: 41,191,052 (GRCm39) Q126K probably benign Het
Abca15 C A 7: 120,000,941 (GRCm39) N1492K probably damaging Het
Afap1l2 C T 19: 56,906,472 (GRCm39) D402N probably damaging Het
Akap11 A G 14: 78,750,408 (GRCm39) F660L probably damaging Het
Bcl3 T C 7: 19,554,102 (GRCm39) T89A probably benign Het
Bub1b T C 2: 118,467,251 (GRCm39) I858T possibly damaging Het
Cdk19 A G 10: 40,352,214 (GRCm39) D288G possibly damaging Het
Cyp2d34 T A 15: 82,502,530 (GRCm39) D202V probably damaging Het
Dip2c T G 13: 9,625,259 (GRCm39) Y584* probably null Het
Dpf3 A T 12: 83,378,635 (GRCm39) probably null Het
Drp2 G A X: 133,342,065 (GRCm39) R567H probably damaging Homo
Emid1 G T 11: 5,081,512 (GRCm39) Q212K probably benign Het
Esm1 C T 13: 113,349,933 (GRCm39) Q118* probably null Het
Fahd2a T G 2: 127,278,284 (GRCm39) I308L probably benign Het
Fanci T C 7: 79,085,126 (GRCm39) *851Q probably null Het
Fastkd1 C A 2: 69,533,084 (GRCm39) V428F probably damaging Het
Fat2 A T 11: 55,173,918 (GRCm39) I2265N probably damaging Het
Gale C A 4: 135,694,171 (GRCm39) H191Q probably damaging Het
Ghsr T A 3: 27,426,403 (GRCm39) V153E possibly damaging Het
Gpc6 A G 14: 117,861,951 (GRCm39) N289S possibly damaging Het
Hoxb6 A T 11: 96,191,537 (GRCm39) Y153F probably damaging Het
Ints3 T C 3: 90,322,814 (GRCm39) T139A probably benign Het
Irf2bp2 A G 8: 127,319,410 (GRCm39) S256P probably benign Het
Klf4 G T 4: 55,530,640 (GRCm39) P148Q probably damaging Het
Loxl1 T G 9: 58,219,820 (GRCm39) H117P probably damaging Het
Lpl A G 8: 69,348,445 (GRCm39) K225E probably benign Het
Lrba T A 3: 86,267,344 (GRCm39) V1678D probably damaging Het
Med1 A T 11: 98,054,730 (GRCm39) F398Y probably damaging Het
Mfap2 T C 4: 140,742,889 (GRCm39) *186Q probably null Het
Mfsd3 T C 15: 76,586,182 (GRCm39) L105P probably damaging Het
Mlxip T G 5: 123,533,357 (GRCm39) I122S probably damaging Het
Mmrn2 A T 14: 34,118,355 (GRCm39) Y107F probably damaging Het
Mtg1 G T 7: 139,720,196 (GRCm39) D88Y probably null Het
Mutyh T A 4: 116,675,132 (GRCm39) S426R probably benign Het
Myo16 C T 8: 10,526,094 (GRCm39) T878I probably damaging Het
Myo9a T A 9: 59,768,755 (GRCm39) Y912* probably null Het
Ncor1 A C 11: 62,234,167 (GRCm39) I669R probably damaging Het
Ndufs1 T C 1: 63,202,935 (GRCm39) I210V probably benign Het
Nek9 A G 12: 85,357,194 (GRCm39) C657R probably damaging Het
Noct C T 3: 51,157,442 (GRCm39) T260I probably damaging Het
Nr1h4 A T 10: 89,334,042 (GRCm39) M102K probably benign Het
Obscn G A 11: 59,015,587 (GRCm39) R1054C possibly damaging Het
Or10ag58 T A 2: 87,265,496 (GRCm39) F222I probably benign Het
Or1j20 C A 2: 36,760,000 (GRCm39) Q141K probably benign Het
Or2a57 A G 6: 43,213,390 (GRCm39) M283V possibly damaging Het
Or51ah3 T A 7: 103,210,524 (GRCm39) I280N possibly damaging Het
Or52z14 A T 7: 103,252,863 (GRCm39) M1L probably benign Het
Or5p75-ps1 G A 7: 108,107,450 (GRCm39) M62I probably damaging Het
Otol1 C A 3: 69,926,211 (GRCm39) Q129K probably benign Het
Otx1 A T 11: 21,948,532 (GRCm39) probably null Het
Pcdhac2 C A 18: 37,279,304 (GRCm39) N761K probably damaging Het
Pde1c A T 6: 56,127,609 (GRCm39) M452K probably damaging Het
Phkg2 T C 7: 127,173,113 (GRCm39) Y24H probably damaging Het
Prg4 C T 1: 150,336,432 (GRCm39) C97Y probably damaging Het
Ptdss1 T C 13: 67,093,352 (GRCm39) V64A probably benign Het
Ralgapa2 T C 2: 146,289,231 (GRCm39) K324E probably damaging Het
Rfx5 G A 3: 94,863,126 (GRCm39) V73I probably benign Het
Riiad1 T C 3: 94,380,170 (GRCm39) T42A probably benign Het
Rims2 T C 15: 39,317,841 (GRCm39) V640A possibly damaging Het
Rnpep G T 1: 135,190,770 (GRCm39) S592Y possibly damaging Het
Scap T C 9: 110,207,458 (GRCm39) L431P probably damaging Het
Siglec1 T A 2: 130,915,281 (GRCm39) I1437F possibly damaging Het
Skic3 T A 13: 76,331,055 (GRCm39) M1495K probably damaging Het
Skint1 T C 4: 111,885,530 (GRCm39) probably null Het
Slc44a1 A G 4: 53,543,644 (GRCm39) E396G probably damaging Het
Slc4a2 T C 5: 24,639,867 (GRCm39) F521S probably damaging Het
Smarcc1 T A 9: 110,004,129 (GRCm39) S394R probably damaging Het
Socs1 A G 16: 10,602,549 (GRCm39) S63P probably benign Het
Spopfm2 C T 3: 94,083,623 (GRCm39) G63R probably damaging Het
Sun1 T G 5: 139,211,088 (GRCm39) S20A possibly damaging Het
Tac4 A T 11: 95,156,068 (GRCm39) K50* probably null Het
Tasor T A 14: 27,151,071 (GRCm39) W16R possibly damaging Het
Tcaf2 A G 6: 42,619,574 (GRCm39) I151T probably damaging Het
Tcf4 T C 18: 69,814,840 (GRCm39) V587A probably damaging Het
Ttn T A 2: 76,571,253 (GRCm39) K24801* probably null Het
Tuba3b G T 6: 145,566,999 (GRCm39) M413I possibly damaging Het
Ufl1 C T 4: 25,267,832 (GRCm39) A280T possibly damaging Het
Ugt2b5 T A 5: 87,287,532 (GRCm39) I212L probably benign Het
Umodl1 A G 17: 31,205,459 (GRCm39) T685A probably benign Het
Uqcrc1 T A 9: 108,773,878 (GRCm39) V183D probably damaging Het
Ush2a A G 1: 188,642,917 (GRCm39) N4093S probably benign Het
Vmn1r167 C T 7: 23,204,653 (GRCm39) S121N probably damaging Het
Vmn1r47 A G 6: 89,999,740 (GRCm39) S291G possibly damaging Het
Vmn2r108 A G 17: 20,701,449 (GRCm39) V17A probably benign Het
Vmn2r58 T A 7: 41,487,176 (GRCm39) H573L probably benign Het
Xirp1 C T 9: 119,847,858 (GRCm39) V342I probably damaging Het
Zfp462 A G 4: 55,051,204 (GRCm39) M2226V possibly damaging Het
Zfp467 G A 6: 48,415,963 (GRCm39) H230Y probably damaging Het
Zfp595 T A 13: 67,464,465 (GRCm39) K599N probably damaging Het
Zfp819 C A 7: 43,266,720 (GRCm39) T401K probably benign 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
R4166: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
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 2016-05-10