Mutagenetix > Incidental Mutation

Incidental Mutation 'R5304:Pigr'

404391

Institutional Source

Beutler Lab

Gene Symbol

Pigr

Ensembl Gene

ENSMUSG00000026417

Gene Name

polymeric immunoglobulin receptor

Synonyms

MMRRC Submission

042887-MU

Accession Numbers

Essential gene?

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

Stock #

R5304 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

130754421-130779986 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 130777230 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Leucine at position 679 (M679L)

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 benign
Transcript: ENSMUST00000027675
AA Change: M679L

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000027675
Gene: ENSMUSG00000026417
AA Change: M679L

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

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.4%
3x: 98.8%
10x: 97.5%
20x: 95.9%

Validation Efficiency

99% (87/88)

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: 80 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adcy1	C	T	11: 7,014,198 (GRCm39)	A200V	probably benign	Het
Adgrv1	T	C	13: 81,726,372 (GRCm39)	D551G	possibly damaging	Het
Aldh3a2	A	G	11: 61,144,538 (GRCm39)	V340A	probably damaging	Het
Amy1	C	A	3: 113,352,013 (GRCm39)	C393F	probably damaging	Het
Ankrd16	T	C	2: 11,794,545 (GRCm39)	V310A	probably benign	Het
Arhgef15	T	C	11: 68,838,063 (GRCm39)	S686G	probably null	Het
Arid4b	T	A	13: 14,361,514 (GRCm39)	N659K	probably benign	Het
Asz1	C	T	6: 18,076,619 (GRCm39)	R191Q	probably benign	Het
Atp2a3	A	G	11: 72,879,383 (GRCm39)	I947V	probably damaging	Het
AW011738	G	A	4: 156,287,969 (GRCm39)		probably benign	Het
Bfsp1	G	T	2: 143,669,211 (GRCm39)	T456K	probably benign	Het
Cdc25c	T	C	18: 34,883,864 (GRCm39)	T40A	possibly damaging	Het
Cdh20	G	A	1: 110,036,569 (GRCm39)	C583Y	probably damaging	Het
Ceacam23	A	C	7: 17,636,617 (GRCm39)	E231D	probably benign	Het
Cfap54	A	T	10: 92,656,968 (GRCm39)	L3028Q	probably damaging	Het
Chd1	A	G	17: 15,975,213 (GRCm39)	S1088G	probably benign	Het
Chd1	A	T	17: 15,990,530 (GRCm39)	H1694L	possibly damaging	Het
Cstf3	G	T	2: 104,493,735 (GRCm39)	E580*	probably null	Het
Dip2a	A	T	10: 76,130,357 (GRCm39)	M622K	possibly damaging	Het
Dlgap1	A	T	17: 71,122,202 (GRCm39)	H877L	probably damaging	Het
Egfr	G	T	11: 16,834,260 (GRCm39)	M122I	probably benign	Het
Etfbkmt	T	A	6: 149,048,704 (GRCm39)	D114E	probably damaging	Het
Eva1c	T	C	16: 90,666,551 (GRCm39)	L158P	probably damaging	Het
Exo1	G	A	1: 175,720,542 (GRCm39)	V287M	probably damaging	Het
Fam171a1	T	C	2: 3,226,654 (GRCm39)	Y471H	probably damaging	Het
Fermt1	T	A	2: 132,783,986 (GRCm39)	T8S	probably benign	Het
Fgfr2	G	T	7: 129,769,504 (GRCm39)	P630T	probably damaging	Het
Fmo5	G	A	3: 97,558,938 (GRCm39)	G466E	probably damaging	Het
Hcn4	A	G	9: 58,751,215 (GRCm39)	I280M	probably benign	Het
Ifi208	A	C	1: 173,511,174 (GRCm39)	K443T	probably benign	Het
Irs3	A	G	5: 137,643,003 (GRCm39)	F145S	probably benign	Het
Kirrel1	T	A	3: 86,996,902 (GRCm39)	H300L	probably benign	Het
Krit1	A	G	5: 3,869,326 (GRCm39)	Q340R	probably damaging	Het
Lipo5	T	C	19: 33,445,149 (GRCm39)	D140G	unknown	Het
Lrrtm4	A	T	6: 79,999,683 (GRCm39)	Q365L	probably benign	Het
Lrwd1	G	T	5: 136,160,004 (GRCm39)	T353K	possibly damaging	Het
Lsm14a	A	T	7: 34,053,154 (GRCm39)	S240R	possibly damaging	Het
Map3k5	A	G	10: 19,983,984 (GRCm39)	I870V	probably benign	Het
Matcap2	A	T	9: 22,335,528 (GRCm39)	T49S	probably benign	Het
Mmp17	A	T	5: 129,671,678 (GRCm39)	E76V	probably null	Het
Mphosph10	A	G	7: 64,038,732 (GRCm39)	F272L	probably damaging	Het
Mtcl2	G	A	2: 156,865,737 (GRCm39)	Q1127*	probably null	Het
Myh10	A	G	11: 68,655,071 (GRCm39)	K380R	probably damaging	Het
Myo3b	C	T	2: 70,257,232 (GRCm39)	P1282L	probably damaging	Het
Nemp2	T	C	1: 52,682,238 (GRCm39)		probably benign	Het
Ola1	T	C	2: 73,029,778 (GRCm39)	I114V	probably damaging	Het
Or4c3d	T	A	2: 89,882,257 (GRCm39)	H137L	probably benign	Het
Or8k28	T	A	2: 86,285,779 (GRCm39)	T279S	probably damaging	Het
Pabpc4	T	G	4: 123,184,100 (GRCm39)	D204E	probably benign	Het
Pik3c2b	A	T	1: 132,998,146 (GRCm39)	M341L	possibly damaging	Het
Plin4	T	A	17: 56,413,132 (GRCm39)	T498S	probably benign	Het
Ppp2r5e	A	G	12: 75,562,459 (GRCm39)	S15P	possibly damaging	Het
Prdm13	T	C	4: 21,678,984 (GRCm39)	Y502C	probably damaging	Het
Ptprk	T	C	10: 28,468,050 (GRCm39)		probably null	Het
Rapgef6	T	C	11: 54,548,200 (GRCm39)	S505P	probably benign	Het
Rgmb	G	T	17: 16,040,990 (GRCm39)	S199*	probably null	Het
Rgsl1	T	C	1: 153,703,238 (GRCm39)	T173A	probably damaging	Het
Rhobtb1	G	T	10: 69,105,742 (GRCm39)	K102N	probably damaging	Het
Ripor2	A	T	13: 24,858,649 (GRCm39)	D147V	probably damaging	Het
Rsad2	A	T	12: 26,500,681 (GRCm39)	V202E	probably damaging	Het
Slc1a6	A	G	10: 78,629,141 (GRCm39)	N186S	probably damaging	Het
Sorbs3	G	A	14: 70,422,345 (GRCm39)	R622*	probably null	Het
Spag9	C	A	11: 93,959,838 (GRCm39)	D342E	probably damaging	Het
Srgap3	T	C	6: 112,743,900 (GRCm39)	Y446C	probably damaging	Het
Thsd7b	C	T	1: 129,605,980 (GRCm39)	R574*	probably null	Het
Tmem74	A	T	15: 43,730,217 (GRCm39)	Y275*	probably null	Het
Topors	A	T	4: 40,262,541 (GRCm39)	S248T	possibly damaging	Het
Trpm1	A	T	7: 63,858,694 (GRCm39)	Y239F	probably benign	Het
Ttn	T	A	2: 76,548,527 (GRCm39)	Y30179F	possibly damaging	Het
Ugt2b34	A	T	5: 87,040,724 (GRCm39)	F399L	probably damaging	Het
Ush2a	A	T	1: 188,088,995 (GRCm39)	I317F	probably damaging	Het
Usp1	T	C	4: 98,822,855 (GRCm39)	V723A	probably benign	Het
Usp34	T	G	11: 23,293,616 (GRCm39)	L237V	probably damaging	Het
Vgf	A	T	5: 137,061,140 (GRCm39)	D434V	probably damaging	Het
Vmn1r179	A	G	7: 23,628,100 (GRCm39)	N97S	probably benign	Het
Vps13a	A	G	19: 16,687,751 (GRCm39)	L899P	possibly damaging	Het
Vps33b	A	T	7: 79,924,001 (GRCm39)	I41F	probably damaging	Het
Zap70	A	T	1: 36,817,299 (GRCm39)	H210L	probably damaging	Het
Zc3h8	T	C	2: 128,770,835 (GRCm39)	D300G	probably benign	Het
Zfp958	C	A	8: 4,676,196 (GRCm39)	H55N	possibly 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
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
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'- AAAGGCCCCAGAGTCTTGAC -3'
(R):5'- AGAGTATCCTTAGCGCTTACCC -3'

Sequencing Primer
(F):5'- CTACCAAGAAAGGGAGCCAGAC -3'
(R):5'- GAGTATCCTTAGCGCTTACCCATCTG -3'

Posted On

2016-07-22