Incidental Mutation 'R5182:Sirpa'
| ID |
397588 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Sirpa
|
| Ensembl Gene |
ENSMUSG00000037902 |
| Gene Name |
signal-regulatory protein alpha |
| Synonyms |
CD172a, Ptpns1, Idd13.2, SIRP, P84, SHPS-1, Bit |
| MMRRC Submission |
042853-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R5182 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
129434755-129474148 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 129457652 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Histidine
at position 242
(R242H)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000124048
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000049262]
[ENSMUST00000099113]
[ENSMUST00000103202]
[ENSMUST00000103203]
[ENSMUST00000153491]
[ENSMUST00000160276]
[ENSMUST00000161620]
[ENSMUST00000179001]
[ENSMUST00000163034]
|
| AlphaFold |
P97797 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000049262
AA Change: R242H
PolyPhen 2
Score 0.654 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000049022
Gene: ENSMUSG00000037902
AA Change: R242H
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
31 |
N/A |
INTRINSIC |
|
IG
|
40 |
146 |
1.78e-9 |
SMART |
|
IGc1
|
166 |
239 |
5.4e-4 |
SMART |
|
IGc1
|
269 |
342 |
8.51e-7 |
SMART |
|
transmembrane domain
|
374 |
396 |
N/A |
INTRINSIC |
|
low complexity region
|
446 |
458 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000099113
|
| SMART Domains |
Protein: ENSMUSP00000096713
Gene: ENSMUSG00000037902
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
31 |
N/A |
INTRINSIC |
|
IG
|
40 |
146 |
1.78e-9 |
SMART |
|
transmembrane domain
|
156 |
178 |
N/A |
INTRINSIC |
|
low complexity region
|
228 |
240 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000103202
AA Change: R242H
PolyPhen 2
Score 0.040 (Sensitivity: 0.94; Specificity: 0.83)
|
| SMART Domains |
Protein: ENSMUSP00000099491
Gene: ENSMUSG00000037902
AA Change: R242H
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
31 |
N/A |
INTRINSIC |
|
IG
|
40 |
146 |
1.78e-9 |
SMART |
|
IGc1
|
166 |
239 |
5.4e-4 |
SMART |
|
IGc1
|
269 |
342 |
8.51e-7 |
SMART |
|
transmembrane domain
|
374 |
396 |
N/A |
INTRINSIC |
|
low complexity region
|
442 |
454 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000103203
AA Change: R242H
PolyPhen 2
Score 0.040 (Sensitivity: 0.94; Specificity: 0.83)
|
| SMART Domains |
Protein: ENSMUSP00000099492
Gene: ENSMUSG00000037902
AA Change: R242H
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
31 |
N/A |
INTRINSIC |
|
IG
|
40 |
146 |
1.78e-9 |
SMART |
|
IGc1
|
166 |
239 |
5.4e-4 |
SMART |
|
IGc1
|
269 |
342 |
8.51e-7 |
SMART |
|
transmembrane domain
|
374 |
396 |
N/A |
INTRINSIC |
|
low complexity region
|
442 |
454 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000153491
|
| SMART Domains |
Protein: ENSMUSP00000120324
Gene: ENSMUSG00000037902
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
31 |
N/A |
INTRINSIC |
|
IG
|
40 |
146 |
1.78e-9 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000160276
|
| SMART Domains |
Protein: ENSMUSP00000125004
Gene: ENSMUSG00000037902
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
31 |
N/A |
INTRINSIC |
|
IG
|
40 |
146 |
1.78e-9 |
SMART |
|
transmembrane domain
|
156 |
178 |
N/A |
INTRINSIC |
|
low complexity region
|
224 |
236 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000160952
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000161620
AA Change: R242H
PolyPhen 2
Score 0.654 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000124048
Gene: ENSMUSG00000037902
AA Change: R242H
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
31 |
N/A |
INTRINSIC |
|
IG
|
40 |
146 |
1.78e-9 |
SMART |
|
IGc1
|
166 |
239 |
5.4e-4 |
SMART |
|
IGc1
|
269 |
342 |
8.51e-7 |
SMART |
|
transmembrane domain
|
374 |
396 |
N/A |
INTRINSIC |
|
low complexity region
|
446 |
458 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000179001
AA Change: R242H
PolyPhen 2
Score 0.040 (Sensitivity: 0.94; Specificity: 0.83)
|
| SMART Domains |
Protein: ENSMUSP00000137611
Gene: ENSMUSG00000037902
AA Change: R242H
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
31 |
N/A |
INTRINSIC |
|
IG
|
40 |
146 |
1.78e-9 |
SMART |
|
IGc1
|
166 |
239 |
5.4e-4 |
SMART |
|
IGc1
|
269 |
342 |
8.51e-7 |
SMART |
|
transmembrane domain
|
374 |
396 |
N/A |
INTRINSIC |
|
low complexity region
|
442 |
454 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000162764
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000163034
|
| SMART Domains |
Protein: ENSMUSP00000124888
Gene: ENSMUSG00000037902
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
26 |
N/A |
INTRINSIC |
|
transmembrane domain
|
37 |
59 |
N/A |
INTRINSIC |
|
low complexity region
|
105 |
117 |
N/A |
INTRINSIC |
|
| Meta Mutation Damage Score |
0.1323 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.7%
|
| Validation Efficiency |
100% (66/66) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a member of the signal-regulatory-protein (SIRP) family, and also belongs to the immunoglobulin superfamily. SIRP family members are receptor-type transmembrane glycoproteins known to be involved in the negative regulation of receptor tyrosine kinase-coupled signaling processes. This protein can be phosphorylated by tyrosine kinases. The phospho-tyrosine residues of this PTP have been shown to recruit SH2 domain containing tyrosine phosphatases (PTP), and serve as substrates of PTPs. This protein was found to participate in signal transduction mediated by various growth factor receptors. CD47 has been demonstrated to be a ligand for this receptor protein. This gene and its product share very high similarity with several other members of the SIRP family. These related genes are located in close proximity to each other on chromosome 20p13. Multiple alternatively spliced transcript variants have been determined for this gene. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous null mice display mild thrombocytopenia, fatty livers, decreased body weight, decreased proportion of single positive T cells, enhanced peritoneal macrophage phagocytosis and impaired Langerhans cell migration. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 61 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1110059E24Rik |
A |
G |
19: 21,608,129 (GRCm39) |
M1T |
probably null |
Het |
| Abcg8 |
T |
C |
17: 85,000,172 (GRCm39) |
L243P |
probably damaging |
Het |
| Ankrd27 |
A |
G |
7: 35,327,912 (GRCm39) |
T811A |
probably damaging |
Het |
| Auts2 |
T |
C |
5: 131,503,919 (GRCm39) |
N188S |
probably null |
Het |
| Bak1 |
G |
A |
17: 27,241,722 (GRCm39) |
P65L |
possibly damaging |
Het |
| Cep350 |
A |
C |
1: 155,733,854 (GRCm39) |
L3013R |
probably damaging |
Het |
| Clca3b |
A |
G |
3: 144,533,776 (GRCm39) |
I533T |
probably damaging |
Het |
| Col6a5 |
C |
A |
9: 105,734,531 (GRCm39) |
E2637* |
probably null |
Het |
| Coq5 |
G |
A |
5: 115,417,815 (GRCm39) |
R15H |
probably benign |
Het |
| Dnah5 |
T |
G |
15: 28,311,424 (GRCm39) |
I1801S |
probably damaging |
Het |
| Dnhd1 |
G |
A |
7: 105,352,416 (GRCm39) |
R2523Q |
probably damaging |
Het |
| Dpf3 |
T |
C |
12: 83,417,370 (GRCm39) |
E34G |
probably damaging |
Het |
| Dst |
C |
A |
1: 34,218,167 (GRCm39) |
Q1536K |
probably benign |
Het |
| Eeig2 |
T |
C |
3: 108,892,667 (GRCm39) |
K173E |
possibly damaging |
Het |
| Eng |
T |
C |
2: 32,562,971 (GRCm39) |
|
probably null |
Het |
| Fignl1 |
A |
T |
11: 11,751,717 (GRCm39) |
I446N |
probably damaging |
Het |
| Fras1 |
C |
A |
5: 96,784,032 (GRCm39) |
C845* |
probably null |
Het |
| Gfm2 |
T |
C |
13: 97,299,401 (GRCm39) |
V347A |
probably damaging |
Het |
| Gpld1 |
A |
T |
13: 25,168,053 (GRCm39) |
|
probably null |
Het |
| Grn |
C |
A |
11: 102,321,380 (GRCm39) |
|
probably benign |
Het |
| Gsdmc4 |
C |
A |
15: 63,765,653 (GRCm39) |
V299F |
probably damaging |
Het |
| Hrnr |
A |
T |
3: 93,239,450 (GRCm39) |
R3229S |
unknown |
Het |
| Icam5 |
A |
G |
9: 20,946,106 (GRCm39) |
T313A |
probably benign |
Het |
| Ift172 |
T |
A |
5: 31,424,958 (GRCm39) |
D668V |
possibly damaging |
Het |
| Kdm5a |
T |
A |
6: 120,365,066 (GRCm39) |
C322* |
probably null |
Het |
| Klk6 |
A |
G |
7: 43,478,084 (GRCm39) |
K152R |
probably benign |
Het |
| Man1a2 |
A |
C |
3: 100,554,333 (GRCm39) |
I250S |
probably damaging |
Het |
| Nkpd1 |
A |
G |
7: 19,257,181 (GRCm39) |
Y170C |
probably damaging |
Het |
| Nmd3 |
T |
A |
3: 69,629,801 (GRCm39) |
|
probably null |
Het |
| Or2y3 |
A |
G |
17: 38,393,005 (GRCm39) |
M288T |
probably benign |
Het |
| Or51f1 |
A |
T |
7: 102,506,176 (GRCm39) |
D104E |
probably benign |
Het |
| Pax4 |
C |
T |
6: 28,444,368 (GRCm39) |
E229K |
probably benign |
Het |
| Pdc |
T |
C |
1: 150,209,105 (GRCm39) |
I196T |
possibly damaging |
Het |
| Pld1 |
T |
C |
3: 28,099,230 (GRCm39) |
I299T |
probably damaging |
Het |
| Pnma1 |
T |
C |
12: 84,193,819 (GRCm39) |
I295V |
probably benign |
Het |
| Prkg2 |
T |
A |
5: 99,172,568 (GRCm39) |
Y49F |
probably benign |
Het |
| Psmd12 |
T |
C |
11: 107,370,485 (GRCm39) |
L28P |
probably damaging |
Het |
| Ptprg |
A |
G |
14: 12,154,174 (GRCm38) |
T632A |
probably benign |
Het |
| Rab43 |
A |
G |
6: 87,771,637 (GRCm39) |
*118R |
probably null |
Het |
| Rabep1 |
C |
T |
11: 70,795,454 (GRCm39) |
R227* |
probably null |
Het |
| Rad51c |
T |
G |
11: 87,288,545 (GRCm39) |
I213L |
possibly damaging |
Het |
| Ranbp17 |
A |
T |
11: 33,169,287 (GRCm39) |
|
probably benign |
Het |
| Ryr3 |
T |
C |
2: 112,585,495 (GRCm39) |
E2735G |
probably damaging |
Het |
| Sdc3 |
A |
G |
4: 130,548,995 (GRCm39) |
|
probably benign |
Het |
| Slc12a4 |
G |
A |
8: 106,671,238 (GRCm39) |
T983M |
probably damaging |
Het |
| Snx7 |
A |
G |
3: 117,626,506 (GRCm39) |
Y252H |
probably damaging |
Het |
| St18 |
C |
T |
1: 6,887,877 (GRCm39) |
T482I |
probably benign |
Het |
| St7 |
A |
G |
6: 17,846,236 (GRCm39) |
Y163C |
probably damaging |
Het |
| Tas2r140 |
A |
T |
6: 40,468,866 (GRCm39) |
Q232L |
probably benign |
Het |
| Tgm6 |
A |
T |
2: 129,983,222 (GRCm39) |
K270N |
probably damaging |
Het |
| Tiam2 |
G |
A |
17: 3,488,996 (GRCm39) |
G768D |
probably damaging |
Het |
| Ttn |
C |
T |
2: 76,700,773 (GRCm39) |
|
probably benign |
Het |
| Ube4b |
A |
C |
4: 149,465,699 (GRCm39) |
S250R |
probably null |
Het |
| Ubxn2a |
G |
A |
12: 4,930,634 (GRCm39) |
A242V |
probably damaging |
Het |
| Usp10 |
G |
A |
8: 120,683,420 (GRCm39) |
V764I |
possibly damaging |
Het |
| Vmn1r222 |
A |
G |
13: 23,416,667 (GRCm39) |
L182P |
probably damaging |
Het |
| Vmn2r114 |
A |
G |
17: 23,510,632 (GRCm39) |
V616A |
probably damaging |
Het |
| Vps13a |
A |
G |
19: 16,672,863 (GRCm39) |
V1303A |
possibly damaging |
Het |
| Wnk2 |
G |
T |
13: 49,214,637 (GRCm39) |
T1315K |
possibly damaging |
Het |
| Zfp936 |
G |
A |
7: 42,839,331 (GRCm39) |
C266Y |
probably damaging |
Het |
| Zscan20 |
G |
T |
4: 128,480,504 (GRCm39) |
N662K |
possibly damaging |
Het |
|
| Other mutations in Sirpa |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00835:Sirpa
|
APN |
2 |
129,451,103 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01138:Sirpa
|
APN |
2 |
129,472,085 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01835:Sirpa
|
APN |
2 |
129,457,484 (GRCm39) |
missense |
possibly damaging |
0.76 |
|
IGL02558:Sirpa
|
APN |
2 |
129,471,989 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02825:Sirpa
|
APN |
2 |
129,457,372 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL03083:Sirpa
|
APN |
2 |
129,471,848 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0234:Sirpa
|
UTSW |
2 |
129,457,388 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0234:Sirpa
|
UTSW |
2 |
129,457,388 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0831:Sirpa
|
UTSW |
2 |
129,469,856 (GRCm39) |
splice site |
probably benign |
|
|
R1550:Sirpa
|
UTSW |
2 |
129,471,961 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1772:Sirpa
|
UTSW |
2 |
129,458,376 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1806:Sirpa
|
UTSW |
2 |
129,457,432 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1927:Sirpa
|
UTSW |
2 |
129,458,296 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
R2568:Sirpa
|
UTSW |
2 |
129,457,568 (GRCm39) |
missense |
probably benign |
0.02 |
|
R4849:Sirpa
|
UTSW |
2 |
129,451,163 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5673:Sirpa
|
UTSW |
2 |
129,472,022 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5680:Sirpa
|
UTSW |
2 |
129,458,172 (GRCm39) |
missense |
probably benign |
0.02 |
|
R6521:Sirpa
|
UTSW |
2 |
129,472,075 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6821:Sirpa
|
UTSW |
2 |
129,472,017 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7602:Sirpa
|
UTSW |
2 |
129,451,072 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7637:Sirpa
|
UTSW |
2 |
129,458,365 (GRCm39) |
missense |
probably benign |
0.44 |
|
R8311:Sirpa
|
UTSW |
2 |
129,458,143 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8817:Sirpa
|
UTSW |
2 |
129,435,558 (GRCm39) |
missense |
unknown |
|
|
R9064:Sirpa
|
UTSW |
2 |
129,458,460 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R9516:Sirpa
|
UTSW |
2 |
129,457,555 (GRCm39) |
missense |
probably damaging |
1.00 |
|
RF018:Sirpa
|
UTSW |
2 |
129,451,123 (GRCm39) |
nonsense |
probably null |
|
|
RF049:Sirpa
|
UTSW |
2 |
129,451,123 (GRCm39) |
nonsense |
probably null |
|
|
Z1088:Sirpa
|
UTSW |
2 |
129,460,455 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- CCGGAATATCACCCTGAAGTGG -3'
(R):5'- TGAATGATGTCAATGCATGCAG -3'
Sequencing Primer
(F):5'- TCACCCTGAAGTGGTTCAAAG -3'
(R):5'- TGTCAATGCATGCAGTACCTAAAAC -3'
|
| Posted On |
2016-07-06 |
Incidental Mutation