Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01592:Pigr'

91630

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Pigr

Ensembl Gene

ENSMUSG00000026417

Gene Name

polymeric immunoglobulin receptor

Synonyms

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.058) question?

Stock #

IGL01592

Quality Score

Status

Chromosome

Chromosomal Location

130754421-130779986 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 130776795 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Methionine at position 657 (V657M)

Ref Sequence

ENSEMBL: ENSMUSP00000027675 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000027675] [ENSMUST00000133792] [ENSMUST00000137782]

AlphaFold

O70570

PDB Structure

Crystal structure of the 1st Ig domain from mouse Polymeric Immunoglobulin receptor [PSI-NYSGRC-006220] [X-RAY DIFFRACTION]
Crystal structure of the second Ig domain from mouse Polymeric Immunoglobulin receptor [PSI-NYSGRC-006220] [X-RAY DIFFRACTION]

Predicted Effect

probably damaging
Transcript: ENSMUST00000027675
AA Change: V657M

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000027675
Gene: ENSMUSG00000026417
AA Change: V657M

Domain	Start	End	E-Value	Type
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

SMART Domains

Protein: ENSMUSP00000121686
Gene: ENSMUSG00000026417

Domain	Start	End	E-Value	Type
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

SMART Domains

Protein: ENSMUSP00000114334
Gene: ENSMUSG00000026417

Domain	Start	End	E-Value	Type
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: 28 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Akap6	A	G	12: 53,188,925 (GRCm39)	D2113G	probably damaging	Het
Atf6b	T	A	17: 34,868,111 (GRCm39)	V125E	probably damaging	Het
Cdan1	T	A	2: 120,556,466 (GRCm39)	Y653F	probably damaging	Het
Ces1d	A	G	8: 93,921,717 (GRCm39)		probably benign	Het
Dnah2	G	T	11: 69,321,913 (GRCm39)	N3802K	probably benign	Het
Dnah5	A	G	15: 28,236,783 (GRCm39)	I370V	probably benign	Het
Dpp10	T	C	1: 123,262,099 (GRCm39)	E761G	probably damaging	Het
Dusp19	A	G	2: 80,447,825 (GRCm39)	E33G	probably damaging	Het
E2f7	T	A	10: 110,582,267 (GRCm39)	D25E	possibly damaging	Het
E2f8	T	C	7: 48,517,605 (GRCm39)	T733A	probably damaging	Het
Golga1	T	C	2: 38,953,294 (GRCm39)	E32G	probably damaging	Het
Grip1	T	A	10: 119,765,908 (GRCm39)	V80E	probably damaging	Het
Igsf6	T	C	7: 120,670,016 (GRCm39)	Y42C	probably damaging	Het
Katna1	T	G	10: 7,617,218 (GRCm39)	M70R	probably damaging	Het
Limk2	T	C	11: 3,309,052 (GRCm39)	K102R	probably benign	Het
Lypla1	T	A	1: 4,898,874 (GRCm39)		probably null	Het
Or2z9	T	A	8: 72,854,356 (GRCm39)	F251I	probably damaging	Het
Or6c69b	A	G	10: 129,627,188 (GRCm39)	I90T	probably damaging	Het
Pgap1	G	A	1: 54,560,470 (GRCm39)	P444L	probably damaging	Het
Plscr1	T	A	9: 92,148,803 (GRCm39)	Y214*	probably null	Het
Polq	A	C	16: 36,855,212 (GRCm39)	I436L	probably benign	Het
Ppfia2	T	A	10: 106,671,909 (GRCm39)		probably benign	Het
Serpina12	A	G	12: 104,004,381 (GRCm39)	S84P	probably damaging	Het
Slc30a6	T	A	17: 74,726,523 (GRCm39)		probably benign	Het
Trim38	A	G	13: 23,975,410 (GRCm39)	T450A	possibly damaging	Het
Ubqlnl	A	T	7: 103,799,496 (GRCm39)		probably benign	Het
Vmn2r24	A	G	6: 123,764,445 (GRCm39)	K441E	probably benign	Het
Wnt8a	A	G	18: 34,677,846 (GRCm39)	T85A	probably damaging	Het

Other mutations in Pigr

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH 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
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
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

Posted On

2013-12-09