Incidental Mutation 'R2964:Pigr'
ID 255954
Institutional Source Beutler Lab
Gene Symbol Pigr
Ensembl Gene ENSMUSG00000026417
Gene Name polymeric immunoglobulin receptor
Synonyms
MMRRC Submission 040520-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.058) question?
Stock # R2964 (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 130769272 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Methionine at position 28 (V28M)
Ref Sequence ENSEMBL: ENSMUSP00000114334 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000027675] [ENSMUST00000133792] [ENSMUST00000137782]
AlphaFold O70570
Predicted Effect probably damaging
Transcript: ENSMUST00000027675
AA Change: V28M

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000027675
Gene: ENSMUSG00000026417
AA Change: V28M

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 damaging
Transcript: ENSMUST00000133792
AA Change: V28M

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000121686
Gene: ENSMUSG00000026417
AA Change: V28M

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 damaging
Transcript: ENSMUST00000137782
AA Change: V28M

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000114334
Gene: ENSMUSG00000026417
AA Change: V28M

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 0.2683 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 94.9%
Validation Efficiency 100% (43/43)
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: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2610021A01Rik C T 7: 41,275,829 (GRCm39) R511* probably null Het
Acox3 T C 5: 35,762,611 (GRCm39) I495T possibly damaging Het
Acsl3 A G 1: 78,672,011 (GRCm39) S302G probably benign Het
Ap1s1 T C 5: 137,066,357 (GRCm39) D148G probably damaging Het
Asprv1 T A 6: 86,605,348 (GRCm39) C65S probably damaging Het
Cdkal1 A G 13: 29,628,018 (GRCm39) S39P unknown Het
Chrna2 T C 14: 66,386,817 (GRCm39) V321A possibly damaging Het
Chsy1 G A 7: 65,821,912 (GRCm39) G716R probably damaging Het
Col13a1 G A 10: 61,797,110 (GRCm39) R106W probably damaging Het
Cul9 A G 17: 46,813,154 (GRCm39) V2355A probably damaging Het
Cwh43 T C 5: 73,565,679 (GRCm39) probably benign Het
Dbi C T 1: 120,047,846 (GRCm39) probably benign Het
Dync1h1 G A 12: 110,607,460 (GRCm39) probably null Het
Fabp3 C T 4: 130,206,180 (GRCm39) T57I probably benign Het
Fbxw21 A G 9: 108,974,578 (GRCm39) I314T probably benign Het
Fstl3 T C 10: 79,617,057 (GRCm39) V200A probably benign Het
Gpr45 G A 1: 43,071,668 (GRCm39) D104N possibly damaging Het
Gsdma2 T C 11: 98,548,085 (GRCm39) S184P probably damaging Het
Gtf2ird1 T C 5: 134,386,538 (GRCm39) probably null Het
H2-T22 A G 17: 36,351,537 (GRCm39) L231S probably damaging Het
Hrh4 T C 18: 13,155,426 (GRCm39) C322R probably benign Het
Ing1 T A 8: 11,611,641 (GRCm39) S26R probably benign Het
Kif3a A T 11: 53,469,757 (GRCm39) I123F probably damaging Het
Lrp6 T C 6: 134,444,489 (GRCm39) E1127G probably damaging Het
Ltf G T 9: 110,857,540 (GRCm39) C443F possibly damaging Het
Mdc1 A T 17: 36,164,529 (GRCm39) Q1359L possibly damaging Het
Mdga1 A T 17: 30,071,442 (GRCm39) I393N probably damaging Het
Mnd1 C A 3: 84,041,416 (GRCm39) C62F probably benign Het
Myo3a T C 2: 22,345,067 (GRCm39) V509A possibly damaging Het
Nav2 C T 7: 49,206,780 (GRCm39) T1535I probably damaging Het
Nlrp4d G T 7: 10,112,256 (GRCm39) S626* probably null Het
Nup188 T A 2: 30,215,358 (GRCm39) I732K probably damaging Het
Oprm1 T C 10: 6,738,914 (GRCm39) S14P probably damaging Het
Or1j12 T C 2: 36,342,779 (GRCm39) F61L probably damaging Het
Or1l8 G A 2: 36,817,419 (GRCm39) R236C probably benign Het
Or5b101 C T 19: 13,005,412 (GRCm39) A94T probably benign Het
Pnpla2 C T 7: 141,038,391 (GRCm39) L215F probably damaging Het
Pth T C 7: 112,985,136 (GRCm39) H79R probably benign Het
Rasal1 T A 5: 120,809,685 (GRCm39) L530Q probably damaging Het
Sdccag8 A T 1: 176,775,937 (GRCm39) K616M possibly damaging Het
Slc4a5 C T 6: 83,273,651 (GRCm39) T997I probably damaging Het
Sp110 A C 1: 85,505,050 (GRCm39) F434C probably benign Het
Trav7d-4 C T 14: 53,007,584 (GRCm39) Q26* probably null Het
Zcchc8 A G 5: 123,858,930 (GRCm39) S22P 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
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
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'- ACTAAAGTAGATGCCTGGTGC -3'
(R):5'- ACTTGTAGCTCCCAGTGTCG -3'

Sequencing Primer
(F):5'- TGAACCCAATTATGATTAGGCAATG -3'
(R):5'- GGTGAGCTGCTCAATGTTAATCAC -3'
Posted On 2014-12-29