Incidental Mutation 'R4250:Pilra'
| ID |
321300 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pilra
|
| Ensembl Gene |
ENSMUSG00000046245 |
| Gene Name |
paired immunoglobin-like type 2 receptor alpha |
| Synonyms |
FDF03 |
| MMRRC Submission |
041066-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.080)
|
| Stock # |
R4250 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
5 |
| Chromosomal Location |
137820214-137834540 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 137821814 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Threonine
at position 274
(S274T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000106608
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000035852]
[ENSMUST00000058897]
[ENSMUST00000110980]
|
| AlphaFold |
Q2YFS3 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000035852
|
| SMART Domains |
Protein: ENSMUSP00000048730
Gene: ENSMUSG00000037108
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:zf-CW
|
246 |
293 |
7.3e-18 |
PFAM |
|
Pfam:PWWP
|
306 |
401 |
6.9e-22 |
PFAM |
|
coiled coil region
|
440 |
462 |
N/A |
INTRINSIC |
|
low complexity region
|
587 |
598 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000058897
AA Change: S277T
PolyPhen 2
Score 0.271 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000050313
Gene: ENSMUSG00000046245
AA Change: S277T
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
31 |
N/A |
INTRINSIC |
|
Blast:IG
|
45 |
155 |
3e-69 |
BLAST |
|
low complexity region
|
156 |
176 |
N/A |
INTRINSIC |
|
transmembrane domain
|
197 |
219 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000110980
AA Change: S274T
PolyPhen 2
Score 0.271 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000106608
Gene: ENSMUSG00000046245
AA Change: S274T
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
17 |
N/A |
INTRINSIC |
|
Blast:IG
|
42 |
152 |
1e-68 |
BLAST |
|
low complexity region
|
153 |
173 |
N/A |
INTRINSIC |
|
transmembrane domain
|
194 |
216 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000130460
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000141642
|
| SMART Domains |
Protein: ENSMUSP00000120909
Gene: ENSMUSG00000037108
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:PWWP
|
21 |
109 |
8.2e-19 |
PFAM |
|
coiled coil region
|
126 |
148 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 95.1%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Cell signaling pathways rely on a dynamic interaction between activating and inhibiting processes. SHP-1-mediated dephosphorylation of protein tyrosine residues is central to the regulation of several cell signaling pathways. Two types of inhibitory receptor superfamily members are immunoreceptor tyrosine-based inhibitory motif (ITIM)-bearing receptors and their non-ITIM-bearing, activating counterparts. Control of cell signaling via SHP-1 is thought to occur through a balance between PILRalpha-mediated inhibition and PILRbeta-mediated activation. These paired immunoglobulin-like receptor genes are located in a tandem head-to-tail orientation on chromosome 7. This particular gene encodes the ITIM-bearing member of the receptor pair, which functions in the inhibitory role. Alternative splicing has been observed at this locus and three variants, each encoding a distinct isoform, are described. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit increased increased alanine transferase, blood urea nitrogen, lactate dehydrogenase, neutrophils and mortality and altered liver morphology (massive hemorrhage, disorganized hepatic cords and karyolysis of hepatocytes) following treatment with LPS. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 32 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Bcl2a1d |
C |
T |
9: 88,613,706 (GRCm39) |
V23I |
probably benign |
Het |
| Birc2 |
A |
T |
9: 7,818,936 (GRCm39) |
L552M |
probably benign |
Het |
| Chst3 |
A |
T |
10: 60,021,890 (GRCm39) |
L319Q |
probably damaging |
Het |
| Col19a1 |
T |
C |
1: 24,564,726 (GRCm39) |
T296A |
unknown |
Het |
| Colgalt2 |
A |
T |
1: 152,365,638 (GRCm39) |
I313L |
probably benign |
Het |
| Dclre1b |
A |
C |
3: 103,711,400 (GRCm39) |
|
probably null |
Het |
| Ezr |
A |
T |
17: 7,022,196 (GRCm39) |
I94N |
probably damaging |
Het |
| Fry |
T |
G |
5: 150,233,825 (GRCm39) |
I99S |
probably damaging |
Het |
| Hba-x |
T |
C |
11: 32,228,000 (GRCm39) |
Y155H |
probably damaging |
Het |
| Herc3 |
T |
A |
6: 58,893,501 (GRCm39) |
V921D |
probably damaging |
Het |
| Hoxb5 |
T |
C |
11: 96,194,854 (GRCm39) |
S139P |
possibly damaging |
Het |
| Icam5 |
A |
G |
9: 20,949,035 (GRCm39) |
T796A |
probably damaging |
Het |
| Igkv8-26 |
G |
A |
6: 70,170,230 (GRCm39) |
V7I |
probably benign |
Het |
| Ikzf1 |
C |
T |
11: 11,704,166 (GRCm39) |
T194M |
probably damaging |
Het |
| Kif14 |
G |
T |
1: 136,401,126 (GRCm39) |
M492I |
possibly damaging |
Het |
| Lmtk3 |
G |
A |
7: 45,443,486 (GRCm39) |
C723Y |
possibly damaging |
Het |
| Or5b97 |
T |
C |
19: 12,878,368 (GRCm39) |
M259V |
probably benign |
Het |
| Padi2 |
A |
G |
4: 140,633,857 (GRCm39) |
Y38C |
probably damaging |
Het |
| Pkd1l1 |
C |
T |
11: 8,815,543 (GRCm39) |
R1456K |
possibly damaging |
Het |
| Rreb1 |
T |
C |
13: 38,077,869 (GRCm39) |
V27A |
possibly damaging |
Het |
| Rxfp1 |
A |
G |
3: 79,559,579 (GRCm39) |
V414A |
probably benign |
Het |
| Satl1 |
A |
G |
X: 111,316,033 (GRCm39) |
S141P |
probably benign |
Het |
| Sirt1 |
T |
A |
10: 63,172,877 (GRCm39) |
|
probably null |
Het |
| Slc5a6 |
A |
G |
5: 31,195,062 (GRCm39) |
S512P |
probably benign |
Het |
| Snx8 |
A |
G |
5: 140,341,800 (GRCm39) |
L121P |
probably damaging |
Het |
| Sp7 |
T |
A |
15: 102,267,327 (GRCm39) |
T160S |
possibly damaging |
Het |
| Tcte1 |
A |
G |
17: 45,850,617 (GRCm39) |
I298V |
probably benign |
Het |
| Trmt9b |
C |
A |
8: 36,979,366 (GRCm39) |
T323K |
probably benign |
Het |
| Ttc4 |
G |
A |
4: 106,522,880 (GRCm39) |
T346I |
probably damaging |
Het |
| Ttn |
T |
C |
2: 76,544,056 (GRCm39) |
T32977A |
probably damaging |
Het |
| Yeats2 |
A |
G |
16: 19,975,685 (GRCm39) |
K114E |
possibly damaging |
Het |
| Zdbf2 |
T |
C |
1: 63,342,020 (GRCm39) |
V133A |
possibly damaging |
Het |
|
| Other mutations in Pilra |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01610:Pilra
|
APN |
5 |
137,833,803 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02331:Pilra
|
APN |
5 |
137,833,917 (GRCm39) |
nonsense |
probably null |
|
|
IGL02815:Pilra
|
APN |
5 |
137,829,567 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL03067:Pilra
|
APN |
5 |
137,821,843 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0032:Pilra
|
UTSW |
5 |
137,829,527 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0032:Pilra
|
UTSW |
5 |
137,829,527 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2851:Pilra
|
UTSW |
5 |
137,834,342 (GRCm39) |
missense |
probably benign |
0.03 |
|
R2852:Pilra
|
UTSW |
5 |
137,834,342 (GRCm39) |
missense |
probably benign |
0.03 |
|
R4359:Pilra
|
UTSW |
5 |
137,829,576 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4655:Pilra
|
UTSW |
5 |
137,833,588 (GRCm39) |
splice site |
probably null |
|
|
R4684:Pilra
|
UTSW |
5 |
137,833,777 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4744:Pilra
|
UTSW |
5 |
137,833,769 (GRCm39) |
splice site |
probably null |
|
|
R5001:Pilra
|
UTSW |
5 |
137,833,777 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5072:Pilra
|
UTSW |
5 |
137,833,674 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R5073:Pilra
|
UTSW |
5 |
137,833,674 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R5074:Pilra
|
UTSW |
5 |
137,833,674 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R5337:Pilra
|
UTSW |
5 |
137,834,032 (GRCm39) |
intron |
probably benign |
|
|
R5349:Pilra
|
UTSW |
5 |
137,829,488 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R5479:Pilra
|
UTSW |
5 |
137,834,318 (GRCm39) |
missense |
possibly damaging |
0.48 |
|
R6233:Pilra
|
UTSW |
5 |
137,821,763 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
R6542:Pilra
|
UTSW |
5 |
137,820,237 (GRCm39) |
splice site |
probably null |
|
|
R7103:Pilra
|
UTSW |
5 |
137,829,488 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R7714:Pilra
|
UTSW |
5 |
137,833,679 (GRCm39) |
missense |
probably benign |
0.06 |
|
R9174:Pilra
|
UTSW |
5 |
137,833,898 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9570:Pilra
|
UTSW |
5 |
137,834,342 (GRCm39) |
missense |
probably benign |
0.03 |
|
| Predicted Primers |
PCR Primer
(F):5'- AAGGGTCTCATCAGTGCTCTC -3'
(R):5'- ACTCAGGCCTGAAGAGAGTG -3'
Sequencing Primer
(F):5'- AAGGGTCTCATCAGTGCTCTCTTTAG -3'
(R):5'- CCTGAAGAGAGTGGAAGGGTGTG -3'
|
| Posted On |
2015-06-12 |
Incidental Mutation