Mutagenetix > Incidental Mutation

Incidental Mutation 'R0831:Sirpa'

77518

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

039010-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0831 (G1)

Quality Score

222

Status

Validated

Chromosome

Chromosomal Location

129434755-129474148 bp(+) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

T to G at 129469856 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000137611 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000049262] [ENSMUST00000099113] [ENSMUST00000103202] [ENSMUST00000103203] [ENSMUST00000160276] [ENSMUST00000161620] [ENSMUST00000179001] [ENSMUST00000163034]

AlphaFold

P97797

Predicted Effect

probably benign
Transcript: ENSMUST00000049262

SMART Domains

Protein: ENSMUSP00000049022
Gene: ENSMUSG00000037902

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

SMART Domains

Protein: ENSMUSP00000099491
Gene: ENSMUSG00000037902

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

SMART Domains

Protein: ENSMUSP00000099492
Gene: ENSMUSG00000037902

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: 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

probably benign
Transcript: ENSMUST00000161620

SMART Domains

Protein: ENSMUSP00000124048
Gene: ENSMUSG00000037902

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

noncoding transcript
Transcript: ENSMUST00000162764

Predicted Effect

probably benign
Transcript: ENSMUST00000179001

SMART Domains

Protein: ENSMUSP00000137611
Gene: ENSMUSG00000037902

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: 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

Coding Region Coverage

1x: 99.6%
3x: 98.9%
10x: 96.9%
20x: 92.0%

Validation Efficiency

95% (82/86)

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: 79 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2900092C05Rik	C	T	7: 12,284,523 (GRCm39)		probably benign	Het
3425401B19Rik	T	C	14: 32,384,228 (GRCm39)	N579S	probably benign	Het
Adck1	G	T	12: 88,335,118 (GRCm39)	M1I	probably null	Het
Adgra3	A	T	5: 50,128,144 (GRCm39)	I779N	probably damaging	Het
Adgrf2	A	G	17: 43,021,334 (GRCm39)	S497P	probably damaging	Het
Afg3l2	A	C	18: 67,554,297 (GRCm39)	F468L	probably damaging	Het
Alms1	T	A	6: 85,605,502 (GRCm39)	I2384N	probably benign	Het
Ankrd13b	A	T	11: 77,363,585 (GRCm39)	S244R	probably damaging	Het
Aox1	T	A	1: 58,378,842 (GRCm39)	H1030Q	probably benign	Het
Ap1b1	A	G	11: 4,973,092 (GRCm39)		probably benign	Het
Atxn2l	A	G	7: 126,098,332 (GRCm39)	S187P	probably damaging	Het
B4galt4	G	T	16: 38,588,341 (GRCm39)	E57D	probably benign	Het
Cad	T	C	5: 31,224,944 (GRCm39)	V949A	probably damaging	Het
Cadps2	C	T	6: 23,321,739 (GRCm39)	S1051N	possibly damaging	Het
Ccdc66	C	T	14: 27,219,313 (GRCm39)	V148I	probably benign	Het
Ccser1	C	T	6: 61,400,045 (GRCm39)	P55S	probably damaging	Het
Cds2	T	C	2: 132,127,887 (GRCm39)		probably null	Het
Cep95	A	G	11: 106,705,530 (GRCm39)	D548G	probably benign	Het
Chil3	A	G	3: 106,057,063 (GRCm39)	Y294H	probably benign	Het
Chmp5	A	G	4: 40,949,500 (GRCm39)	D39G	probably damaging	Het
Chrd	T	A	16: 20,560,059 (GRCm39)	F887I	probably damaging	Het
Col24a1	G	T	3: 145,034,520 (GRCm39)	G580V	probably damaging	Het
Col6a2	A	T	10: 76,439,939 (GRCm39)	N655K	probably damaging	Het
Ctsf	A	T	19: 4,909,868 (GRCm39)	Y416F	possibly damaging	Het
Dennd5a	A	C	7: 109,533,961 (GRCm39)	V77G	probably damaging	Het
Dna2	A	T	10: 62,795,108 (GRCm39)	K460*	probably null	Het
Dnah17	A	T	11: 117,951,097 (GRCm39)	M2842K	probably damaging	Het
Dnajc13	C	A	9: 104,049,811 (GRCm39)	G1765V	probably damaging	Het
Donson	A	C	16: 91,480,651 (GRCm39)	C243W	probably damaging	Het
Dpp8	A	T	9: 64,985,961 (GRCm39)	N817I	possibly damaging	Het
Eef1d	G	A	15: 75,768,655 (GRCm39)		probably benign	Het
Esf1	T	A	2: 140,010,279 (GRCm39)	D19V	probably damaging	Het
Gm21738	T	A	14: 19,415,957 (GRCm38)	Y194F	probably benign	Het
Gm21738	T	C	14: 19,415,963 (GRCm38)	K192R	probably benign	Het
Gm9867	C	A	4: 140,049,799 (GRCm39)	A128S	unknown	Het
Igsf23	G	T	7: 19,675,662 (GRCm39)		probably benign	Het
Inhca	T	C	9: 103,146,978 (GRCm39)	H292R	possibly damaging	Het
Kdm7a	C	A	6: 39,143,699 (GRCm39)		probably benign	Het
Kif14	G	A	1: 136,453,609 (GRCm39)		probably benign	Het
Mroh7	T	C	4: 106,537,990 (GRCm39)	N1229D	possibly damaging	Het
Mrps11	C	A	7: 78,441,611 (GRCm39)		probably benign	Het
Mtmr2	T	A	9: 13,707,409 (GRCm39)	D248E	probably damaging	Het
Myrfl	C	A	10: 116,619,114 (GRCm39)	S748I	probably benign	Het
Nop14	T	C	5: 34,807,864 (GRCm39)	E366G	possibly damaging	Het
Or13c3	T	G	4: 52,855,764 (GRCm39)	I250L	possibly damaging	Het
Or2w25	C	T	11: 59,504,480 (GRCm39)	T230I	possibly damaging	Het
Or52z13	A	G	7: 103,247,338 (GRCm39)	I272V	probably benign	Het
Or7e177	T	A	9: 20,211,861 (GRCm39)	C123S	probably benign	Het
Or8g2b	C	T	9: 39,751,579 (GRCm39)	P283L	probably damaging	Het
Phykpl	G	T	11: 51,476,366 (GRCm39)	E29*	probably null	Het
Plppr4	A	G	3: 117,125,295 (GRCm39)		probably null	Het
Prmt2	A	C	10: 76,043,641 (GRCm39)		probably benign	Het
Prodh2	T	A	7: 30,193,649 (GRCm39)	Y114*	probably null	Het
Prr23a2	C	A	9: 98,738,917 (GRCm39)	H92N	probably damaging	Het
Rasl10b	G	A	11: 83,308,665 (GRCm39)		probably null	Het
Rdx	C	A	9: 51,977,117 (GRCm39)	A122E	probably damaging	Het
Rspo3	T	G	10: 29,330,253 (GRCm39)	D236A	unknown	Het
Sdk2	A	T	11: 113,723,084 (GRCm39)	D1302E	probably damaging	Het
Sipa1	A	T	19: 5,710,382 (GRCm39)	D209E	probably damaging	Het
Ska1	A	C	18: 74,330,570 (GRCm39)		probably benign	Het
Slc4a9	T	C	18: 36,668,331 (GRCm39)		probably benign	Het
Slco1b2	T	C	6: 141,631,172 (GRCm39)	V602A	probably benign	Het
Slco2a1	T	C	9: 102,959,533 (GRCm39)	V543A	probably damaging	Het
Sorcs3	A	T	19: 48,682,433 (GRCm39)	L489F	probably damaging	Het
Sorl1	T	C	9: 41,982,365 (GRCm39)		probably benign	Het
Sp140l1	C	G	1: 85,077,226 (GRCm39)	K113N	probably benign	Het
Spindoc	G	T	19: 7,352,100 (GRCm39)	N82K	probably benign	Het
Stk17b	C	A	1: 53,796,651 (GRCm39)	C372F	probably damaging	Het
Tbck	A	G	3: 132,428,052 (GRCm39)		probably benign	Het
Thoc1	C	T	18: 9,963,267 (GRCm39)	T127I	probably benign	Het
Togaram2	G	T	17: 72,023,439 (GRCm39)	R765L	probably damaging	Het
Tprg1	A	G	16: 25,136,219 (GRCm39)	Y70C	probably damaging	Het
Ugcg	C	T	4: 59,207,798 (GRCm39)	P46S	probably benign	Het
Umodl1	T	C	17: 31,215,325 (GRCm39)	Y1050H	probably damaging	Het
Vmn1r205	T	A	13: 22,776,586 (GRCm39)	D172V	probably benign	Het
Vmn1r79	A	T	7: 11,910,990 (GRCm39)	N291Y	probably damaging	Het
Vmn2r112	T	A	17: 22,833,980 (GRCm39)	N549K	probably damaging	Het
Vrk3	T	A	7: 44,414,227 (GRCm39)	L241Q	probably damaging	Het
Zc3h7a	A	G	16: 10,969,744 (GRCm39)	S386P	probably 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
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
R5182:Sirpa	UTSW	2	129,457,652 (GRCm39)	missense	possibly damaging	0.65
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'- GATTTGTCCACCACCTCCAGGAAG -3'
(R):5'- ACTCAGTAATGCACAGCTCCTCCTC -3'

Sequencing Primer
(F):5'- GGTGGAAGTCCTCTTCATCC -3'
(R):5'- TCCCTAGCCCAGAGACTTAATTTAG -3'

Posted On

2013-10-16