Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01565:Pigr'

90955

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 #

IGL01565

Quality Score

Status

Chromosome

Chromosomal Location

130754421-130779986 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 130772211 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Alanine at position 143 (D143A)

Ref Sequence

ENSEMBL: ENSMUSP00000114334 (fasta)

Gene Model

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

AlphaFold

O70570

Predicted Effect

possibly damaging
Transcript: ENSMUST00000027675
AA Change: D143A

PolyPhen 2 Score 0.929 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000027675
Gene: ENSMUSG00000026417
AA Change: D143A

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

possibly damaging
Transcript: ENSMUST00000133792
AA Change: D143A

PolyPhen 2 Score 0.526 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000121686
Gene: ENSMUSG00000026417
AA Change: D143A

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

possibly damaging
Transcript: ENSMUST00000137782
AA Change: D143A

PolyPhen 2 Score 0.929 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000114334
Gene: ENSMUSG00000026417
AA Change: D143A

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: 29 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700017N19Rik	A	G	10: 100,439,222 (GRCm39)	T36A	probably damaging	Het
Ankrd35	A	G	3: 96,592,101 (GRCm39)	M796V	probably damaging	Het
Brpf1	A	T	6: 113,293,611 (GRCm39)	Q560L	probably damaging	Het
Dbil5	T	G	11: 76,109,091 (GRCm39)		probably benign	Het
Dnah9	T	C	11: 65,924,655 (GRCm39)	K2200E	possibly damaging	Het
Gtf2i	T	C	5: 134,284,767 (GRCm39)	I471V	probably damaging	Het
Has3	T	A	8: 107,601,077 (GRCm39)	W180R	probably benign	Het
Lrfn1	T	C	7: 28,158,194 (GRCm39)	C38R	probably damaging	Het
Lrsam1	C	T	2: 32,826,507 (GRCm39)	A455T	probably damaging	Het
Mettl2	C	A	11: 105,017,364 (GRCm39)	D14E	probably benign	Het
Mocs1	G	A	17: 49,759,348 (GRCm39)	R364Q	probably benign	Het
Ndst2	A	T	14: 20,778,274 (GRCm39)	V435E	probably damaging	Het
Pi4ka	A	T	16: 17,207,306 (GRCm39)		probably benign	Het
Polq	A	C	16: 36,833,475 (GRCm39)	N56T	probably benign	Het
Prmt7	T	G	8: 106,977,041 (GRCm39)	D584E	probably damaging	Het
R3hdm1	A	T	1: 128,114,553 (GRCm39)	Q511H	probably damaging	Het
Rbm33	T	C	5: 28,596,077 (GRCm39)		probably benign	Het
Rdh19	T	G	10: 127,695,464 (GRCm39)	M226R	probably benign	Het
Rock2	G	A	12: 17,003,318 (GRCm39)	D386N	possibly damaging	Het
Slc7a2	A	G	8: 41,352,275 (GRCm39)	T96A	possibly damaging	Het
Spata2	A	G	2: 167,326,214 (GRCm39)	S202P	probably damaging	Het
Swsap1	T	A	9: 21,868,524 (GRCm39)	D265E	possibly damaging	Het
Tdrd3	A	T	14: 87,709,668 (GRCm39)	I117L	probably benign	Het
Ticrr	A	G	7: 79,344,296 (GRCm39)	D1387G	probably benign	Het
Tnfaip6	A	G	2: 51,945,846 (GRCm39)	S231G	probably damaging	Het
Trim50	T	A	5: 135,396,355 (GRCm39)	D434E	probably benign	Het
Tyw5	T	C	1: 57,433,240 (GRCm39)	Y105C	probably damaging	Het
Usp50	G	T	2: 126,619,888 (GRCm39)	C141*	probably null	Het
Zfp647	A	T	15: 76,795,870 (GRCm39)	C263*	probably null	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
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
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