Mutagenetix > Incidental Mutation

Incidental Mutation 'R6291:Pigr'

508393

Institutional Source

Beutler Lab

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 #

R6291 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

130754421-130779986 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 130769498 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Alanine at position 103 (D103A)

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: D103A

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)

SMART Domains

Protein: ENSMUSP00000027675
Gene: ENSMUSG00000026417
AA Change: D103A

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
AA Change: D103A

PolyPhen 2 Score 0.062 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000121686
Gene: ENSMUSG00000026417
AA Change: D103A

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
AA Change: D103A

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)

SMART Domains

Protein: ENSMUSP00000114334
Gene: ENSMUSG00000026417
AA Change: D103A

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

1x: 99.9%
3x: 99.7%
10x: 98.6%
20x: 96.3%

Validation Efficiency

98% (86/88)

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: 91 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc12	C	T	8: 87,293,173 (GRCm39)	G5D	possibly damaging	Het
Adamts9	T	C	6: 92,867,101 (GRCm39)	K95R	probably damaging	Het
Adap1	G	T	5: 139,259,246 (GRCm39)	L314M	probably benign	Het
Alkbh1	T	A	12: 87,475,864 (GRCm39)	E306V	possibly damaging	Het
Alpk2	T	A	18: 65,438,972 (GRCm39)	D1274V	possibly damaging	Het
Ankrd31	A	C	13: 97,014,746 (GRCm39)	K1188N	possibly damaging	Het
Aox1	T	A	1: 58,369,965 (GRCm39)	M759K	probably damaging	Het
Atp13a3	T	A	16: 30,155,061 (GRCm39)	D961V	probably damaging	Het
Bcl11a	G	A	11: 24,108,321 (GRCm39)	G100R	probably damaging	Het
Bpifc	G	A	10: 85,812,122 (GRCm39)	A362V	probably damaging	Het
Btaf1	C	T	19: 36,950,408 (GRCm39)	T546I	probably benign	Het
Casd1	C	A	6: 4,619,834 (GRCm39)	P193Q	probably damaging	Het
Cdhr1	T	C	14: 36,811,422 (GRCm39)	T230A	probably benign	Het
Celsr3	T	G	9: 108,706,041 (GRCm39)	D841E	probably damaging	Het
Cenpj	T	C	14: 56,789,433 (GRCm39)	D872G	probably benign	Het
Cep95	G	T	11: 106,706,422 (GRCm39)	A559S	probably damaging	Het
Chpt1	A	T	10: 88,311,306 (GRCm39)	C62*	probably null	Het
Cspg4b	T	A	13: 113,456,981 (GRCm39)	I1009N	possibly damaging	Het
Cspp1	A	G	1: 10,134,559 (GRCm39)	K103R	probably damaging	Het
Ctla4	T	C	1: 60,951,837 (GRCm39)	V122A	probably benign	Het
Cyp3a11	A	G	5: 145,799,237 (GRCm39)	F317L	possibly damaging	Het
Daam1	T	C	12: 71,993,025 (GRCm39)	L338P	unknown	Het
Dcc	T	A	18: 71,815,238 (GRCm39)	I379L	probably benign	Het
Dennd2c	C	A	3: 103,038,925 (GRCm39)	C24*	probably null	Het
Dnai3	G	A	3: 145,772,648 (GRCm39)	S466L	probably benign	Het
Dnajc12	A	G	10: 63,233,053 (GRCm39)	I65V	probably benign	Het
Dock3	T	A	9: 106,785,631 (GRCm39)	M208L	probably benign	Het
Dsg1b	T	C	18: 20,537,848 (GRCm39)	I588T	possibly damaging	Het
Eif1b	T	C	9: 120,323,206 (GRCm39)	L22S	probably benign	Het
Ep300	T	A	15: 81,532,708 (GRCm39)	S1649T	unknown	Het
Eps15	CAAA	CAA	4: 109,162,900 (GRCm39)		probably null	Het
Ercc6	A	T	14: 32,291,943 (GRCm39)	E1102D	probably benign	Het
Gsdmc3	T	C	15: 63,732,090 (GRCm39)	N312S	probably benign	Het
Guca2b	A	T	4: 119,514,890 (GRCm39)	L57Q	probably damaging	Het
Heatr5b	G	T	17: 79,069,526 (GRCm39)	H1740Q	probably benign	Het
Hecw1	G	A	13: 14,697,592 (GRCm39)		probably benign	Het
Icam5	A	G	9: 20,948,217 (GRCm39)	H675R	probably benign	Het
Il18rap	T	C	1: 40,564,049 (GRCm39)	F56L	probably benign	Het
Iqgap3	T	A	3: 87,997,037 (GRCm39)		probably null	Het
Itsn1	T	C	16: 91,664,984 (GRCm39)		probably benign	Het
Jakmip3	A	T	7: 138,622,585 (GRCm39)	D315V	probably damaging	Het
Kif24	A	G	4: 41,413,959 (GRCm39)	Y328H	probably damaging	Het
Kmt2a	A	T	9: 44,744,171 (GRCm39)		probably benign	Het
Kng1	A	G	16: 22,898,475 (GRCm39)	E625G	probably damaging	Het
Man2b1	C	T	8: 85,823,675 (GRCm39)	T973I	probably benign	Het
Masp2	G	A	4: 148,687,210 (GRCm39)	V31M	probably damaging	Het
Myo18b	C	T	5: 113,013,601 (GRCm39)	R785H	possibly damaging	Het
Naa15	G	A	3: 51,350,212 (GRCm39)	G103D	probably damaging	Het
Or4f15	A	G	2: 111,813,969 (GRCm39)	V150A	probably benign	Het
Or5m11b	A	G	2: 85,805,926 (GRCm39)	Y113C	probably damaging	Het
Or7e177	T	A	9: 20,211,899 (GRCm39)	D134E	probably damaging	Het
Papln	A	G	12: 83,829,789 (GRCm39)	N970S	probably benign	Het
Pick1	T	A	15: 79,135,928 (GRCm39)		probably null	Het
Plekhf1	A	C	7: 37,921,029 (GRCm39)	F180V	possibly damaging	Het
Plxnc1	A	G	10: 94,669,504 (GRCm39)		probably null	Het
Polr3f	A	G	2: 144,376,308 (GRCm39)	I136V	probably damaging	Het
Ppp2r2c	T	C	5: 37,097,468 (GRCm39)	M218T	possibly damaging	Het
Prox2	C	T	12: 85,136,420 (GRCm39)	V466I	probably damaging	Het
Prrc2a	G	A	17: 35,373,909 (GRCm39)	L1479F	probably damaging	Het
Rbm24	T	A	13: 46,575,313 (GRCm39)		probably null	Het
Rcc1l	A	T	5: 134,195,560 (GRCm39)		probably null	Het
Ripk4	A	C	16: 97,556,323 (GRCm39)	L140R	probably damaging	Het
Rmnd1	A	T	10: 4,372,135 (GRCm39)	L188Q	probably damaging	Het
Rnf170	C	T	8: 26,630,992 (GRCm39)	P249S	probably damaging	Het
Rras	A	G	7: 44,667,595 (GRCm39)		probably null	Het
Rsf1	G	A	7: 97,229,117 (GRCm39)		probably benign	Het
Scn7a	T	A	2: 66,530,458 (GRCm39)	D629V	probably damaging	Het
Sipa1l3	A	G	7: 29,087,558 (GRCm39)	S556P	probably damaging	Het
Smarca2	C	T	19: 26,608,292 (GRCm39)	A117V	probably damaging	Het
Snca	C	T	6: 60,792,702 (GRCm39)	A69T	probably damaging	Het
Snx2	T	C	18: 53,342,737 (GRCm39)		probably null	Het
Spp1	T	A	5: 104,587,242 (GRCm39)	S109T	possibly damaging	Het
Stoml3	T	C	3: 53,414,937 (GRCm39)	L243P	probably damaging	Het
Susd2	A	G	10: 75,473,408 (GRCm39)	F789L	possibly damaging	Het
Sycp1	A	G	3: 102,816,277 (GRCm39)	M419T	probably damaging	Het
Thoc1	T	C	18: 9,993,330 (GRCm39)	V563A	probably benign	Het
Tmprss11g	T	C	5: 86,635,281 (GRCm39)	I398V	probably damaging	Het
Tox3	A	G	8: 90,975,566 (GRCm39)	L355P	probably damaging	Het
Tpp1	A	G	7: 105,396,223 (GRCm39)	I492T	probably benign	Het
Trim21	A	T	7: 102,213,289 (GRCm39)	L3Q	probably damaging	Het
Ttn	A	C	2: 76,738,080 (GRCm39)	V4153G	probably benign	Het
Ttn	T	C	2: 76,744,638 (GRCm39)		probably benign	Het
Unc80	A	G	1: 66,560,756 (GRCm39)	E828G	possibly damaging	Het
Vav3	A	G	3: 109,416,170 (GRCm39)	N263S	possibly damaging	Het
Vmn1r183	A	C	7: 23,754,982 (GRCm39)	T262P	possibly damaging	Het
Vmn2r67	G	A	7: 84,799,142 (GRCm39)	P522S	possibly damaging	Het
Vps35	T	A	8: 86,026,086 (GRCm39)	M1L	probably benign	Het
Xpo7	A	T	14: 70,942,130 (GRCm39)	L79*	probably null	Het
Zc3h14	G	A	12: 98,726,087 (GRCm39)	R324H	probably damaging	Het
Zfp330	T	C	8: 83,499,613 (GRCm39)	T6A	probably damaging	Het
Zfp948	T	A	17: 21,807,286 (GRCm39)	H159Q	unknown	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
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
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'- GGCGACTCTGTTTCCATCAC -3'
(R):5'- TTCATGTCAAGAAACCCTTCTGTAG -3'

Sequencing Primer
(F):5'- GTGCTACTACCCAGACACCTCTG -3'
(R):5'- TCTGTAGGAGGTATCTGCCCC -3'

Posted On

2018-03-15