Incidental Mutation 'R4994:Pigr'
| ID |
385065 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pigr
|
| Ensembl Gene |
ENSMUSG00000026417 |
| Gene Name |
polymeric immunoglobulin receptor |
| Synonyms |
|
| MMRRC Submission |
042588-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.058)
|
| Stock # |
R4994 (G1)
|
| Quality Score |
224 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
130754421-130779986 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 130769554 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Asparagine
at position 122
(D122N)
|
| 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: D122N
PolyPhen 2
Score 0.257 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000027675
Gene: ENSMUSG00000026417
AA Change: D122N
| 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: D122N
PolyPhen 2
Score 0.264 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000121686
Gene: ENSMUSG00000026417
AA Change: D122N
| 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: D122N
PolyPhen 2
Score 0.257 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000114334
Gene: ENSMUSG00000026417
AA Change: D122N
| 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 |
0.3843 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.8%
- 20x: 94.0%
|
| Validation Efficiency |
100% (79/79) |
| 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: 76 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700030K09Rik |
A |
G |
8: 73,208,962 (GRCm39) |
E364G |
probably benign |
Het |
| 4930505A04Rik |
C |
T |
11: 30,376,349 (GRCm39) |
V173M |
probably damaging |
Het |
| Abcb4 |
A |
G |
5: 8,978,524 (GRCm39) |
T557A |
probably damaging |
Het |
| Acadm |
C |
T |
3: 153,635,221 (GRCm39) |
E298K |
probably damaging |
Het |
| Adrb3 |
T |
C |
8: 27,717,855 (GRCm39) |
|
probably null |
Het |
| Aldh1b1 |
A |
G |
4: 45,803,128 (GRCm39) |
Y222C |
possibly damaging |
Het |
| Ankrd6 |
A |
G |
4: 32,860,387 (GRCm39) |
Y19H |
probably damaging |
Het |
| Arhgap21 |
T |
A |
2: 20,854,701 (GRCm39) |
T1554S |
probably benign |
Het |
| BC043934 |
T |
C |
9: 96,319,173 (GRCm39) |
|
noncoding transcript |
Het |
| Birc6 |
A |
G |
17: 74,901,319 (GRCm39) |
|
probably benign |
Het |
| Blm |
A |
C |
7: 80,108,573 (GRCm39) |
F1357C |
probably benign |
Het |
| Cd209a |
T |
C |
8: 3,797,713 (GRCm39) |
|
probably null |
Het |
| Cdk7 |
G |
A |
13: 100,854,103 (GRCm39) |
H129Y |
probably damaging |
Het |
| Clec14a |
G |
T |
12: 58,315,070 (GRCm39) |
P184Q |
probably damaging |
Het |
| Cma1 |
T |
A |
14: 56,179,128 (GRCm39) |
I243F |
probably damaging |
Het |
| Cntnap3 |
G |
T |
13: 64,909,798 (GRCm39) |
T769K |
possibly damaging |
Het |
| Col5a1 |
A |
C |
2: 27,922,751 (GRCm39) |
K273T |
possibly damaging |
Het |
| Csnk1e |
A |
G |
15: 79,309,129 (GRCm39) |
Y266H |
probably damaging |
Het |
| Cyb5d1 |
A |
G |
11: 69,284,597 (GRCm39) |
L185S |
probably damaging |
Het |
| Dennd5b |
T |
C |
6: 148,942,998 (GRCm39) |
|
probably null |
Het |
| Dipk2a |
C |
A |
9: 94,419,486 (GRCm39) |
R148L |
probably benign |
Het |
| Drp2 |
G |
A |
X: 133,342,065 (GRCm39) |
R567H |
probably damaging |
Homo |
| Dzank1 |
T |
G |
2: 144,364,486 (GRCm39) |
D37A |
probably damaging |
Het |
| Echdc2 |
A |
G |
4: 108,022,825 (GRCm39) |
I34V |
probably benign |
Het |
| Esm1 |
A |
T |
13: 113,349,965 (GRCm39) |
R128S |
probably benign |
Het |
| Fbh1 |
T |
A |
2: 11,769,041 (GRCm39) |
I251F |
probably damaging |
Het |
| Fbrsl1 |
A |
G |
5: 110,595,817 (GRCm39) |
S73P |
probably damaging |
Het |
| Fbxo6 |
A |
T |
4: 148,233,948 (GRCm39) |
S49R |
probably damaging |
Het |
| Gm17093 |
A |
T |
14: 44,756,779 (GRCm39) |
Q82L |
probably damaging |
Het |
| Hmcn2 |
T |
C |
2: 31,348,067 (GRCm39) |
|
probably null |
Het |
| Hspa4l |
C |
A |
3: 40,700,081 (GRCm39) |
|
probably benign |
Het |
| Il3ra |
G |
A |
14: 14,351,080 (GRCm38) |
A201T |
probably benign |
Het |
| Irx5 |
T |
A |
8: 93,087,409 (GRCm39) |
V447E |
probably damaging |
Het |
| Kif14 |
G |
T |
1: 136,410,697 (GRCm39) |
L668F |
probably damaging |
Het |
| Lag3 |
T |
A |
6: 124,881,416 (GRCm39) |
R519W |
unknown |
Het |
| Lgr4 |
A |
G |
2: 109,842,283 (GRCm39) |
N756S |
probably damaging |
Het |
| Lingo4 |
T |
A |
3: 94,310,308 (GRCm39) |
H415Q |
probably benign |
Het |
| Lingo4 |
A |
G |
3: 94,309,848 (GRCm39) |
H262R |
probably benign |
Het |
| Lkaaear1 |
C |
A |
2: 181,339,376 (GRCm39) |
G25* |
probably null |
Het |
| Maco1 |
A |
G |
4: 134,555,610 (GRCm39) |
Y288H |
probably damaging |
Het |
| Marf1 |
T |
C |
16: 13,932,095 (GRCm39) |
K1641E |
probably benign |
Het |
| Mtfmt |
T |
C |
9: 65,351,133 (GRCm39) |
|
probably benign |
Het |
| Mtif3 |
G |
A |
5: 146,893,598 (GRCm39) |
T203M |
probably benign |
Het |
| Mycbp2 |
A |
G |
14: 103,407,430 (GRCm39) |
I2740T |
probably benign |
Het |
| Nrdc |
A |
G |
4: 108,903,809 (GRCm39) |
T720A |
probably benign |
Het |
| Or2d2 |
T |
C |
7: 106,728,271 (GRCm39) |
T110A |
probably benign |
Het |
| Peak1 |
T |
A |
9: 56,148,560 (GRCm39) |
D32V |
possibly damaging |
Het |
| Plekhg3 |
A |
G |
12: 76,612,311 (GRCm39) |
R391G |
possibly damaging |
Het |
| Ppfia3 |
T |
C |
7: 44,990,542 (GRCm39) |
D919G |
probably damaging |
Het |
| Pramel23 |
T |
A |
4: 143,424,939 (GRCm39) |
Q168L |
possibly damaging |
Het |
| Rnase2b |
T |
A |
14: 51,400,208 (GRCm39) |
D96E |
possibly damaging |
Het |
| Rsf1 |
CGGCGGC |
CGGCGGCCGCGGCGGC |
7: 97,229,130 (GRCm39) |
|
probably benign |
Het |
| Rsf1 |
G |
GACGGCGGCT |
7: 97,229,116 (GRCm39) |
|
probably benign |
Het |
| Serpina3f |
A |
G |
12: 104,186,615 (GRCm39) |
T394A |
probably benign |
Het |
| Six3 |
A |
G |
17: 85,928,720 (GRCm39) |
N18S |
possibly damaging |
Het |
| Slc12a5 |
T |
A |
2: 164,825,285 (GRCm39) |
|
probably null |
Het |
| Slc35f6 |
A |
G |
5: 30,805,427 (GRCm39) |
N21S |
probably damaging |
Het |
| Slc39a6 |
A |
T |
18: 24,729,351 (GRCm39) |
I454N |
probably damaging |
Het |
| Slc40a1 |
T |
A |
1: 45,948,824 (GRCm39) |
E485D |
probably damaging |
Het |
| Sort1 |
G |
A |
3: 108,235,385 (GRCm39) |
C255Y |
probably damaging |
Het |
| Stab2 |
T |
A |
10: 86,785,771 (GRCm39) |
T624S |
probably benign |
Het |
| Stk33 |
T |
A |
7: 108,939,605 (GRCm39) |
I99L |
probably benign |
Het |
| Taf4b |
T |
A |
18: 15,031,100 (GRCm39) |
I828N |
probably damaging |
Het |
| Terf2 |
T |
C |
8: 107,803,110 (GRCm39) |
|
probably benign |
Het |
| Timd4 |
C |
T |
11: 46,706,344 (GRCm39) |
R49C |
probably damaging |
Het |
| Tpte |
T |
C |
8: 22,808,362 (GRCm39) |
S166P |
probably benign |
Het |
| Trabd2b |
T |
C |
4: 114,264,052 (GRCm39) |
L13P |
probably benign |
Het |
| Trappc11 |
A |
T |
8: 47,975,476 (GRCm39) |
Y247* |
probably null |
Het |
| Trnt1 |
C |
T |
6: 106,755,853 (GRCm39) |
Q303* |
probably null |
Het |
| Tspyl5 |
T |
A |
15: 33,687,201 (GRCm39) |
Q248L |
possibly damaging |
Het |
| Ubxn7 |
A |
T |
16: 32,200,322 (GRCm39) |
K337N |
probably damaging |
Het |
| Unc13a |
T |
A |
8: 72,095,816 (GRCm39) |
I1234F |
probably benign |
Het |
| Vmn1r127 |
A |
T |
7: 21,052,943 (GRCm39) |
F282I |
probably damaging |
Het |
| Wdhd1 |
A |
T |
14: 47,506,111 (GRCm39) |
|
probably null |
Het |
| Zfp605 |
A |
G |
5: 110,275,352 (GRCm39) |
K157E |
probably damaging |
Het |
| Zhx2 |
T |
A |
15: 57,684,755 (GRCm39) |
D41E |
probably benign |
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 |
|
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'- CGCTCATCTCTTCAAATGGC -3'
(R):5'- ACGACATGGTAAGTCTCACCC -3'
Sequencing Primer
(F):5'- TTCAAATGGCTACCTCTCCAAG -3'
(R):5'- GACATGGTAAGTCTCACCCATTCC -3'
|
| Posted On |
2016-05-10 |
Incidental Mutation