Mutagenetix > Incidental Mutations

Incidental Mutation 'R0234:Sirpa'

59009

Institutional Source

Beutler Lab

Gene Symbol

Sirpa

Ensembl Gene

ENSMUSG00000037902

Gene Name

signal-regulatory protein alpha

Synonyms

SIRP, Ptpns1, CD172a, P84, SHPS-1, Bit

MMRRC Submission

038475-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0234 (G1)

Quality Score

202

Status

Not validated

Chromosome

Chromosomal Location

129592835-129632228 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 129615468 bp

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 154 (V154A)

Ref Sequence

ENSEMBL: ENSMUSP00000124048 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000049262] [ENSMUST00000099113] [ENSMUST00000103202] [ENSMUST00000103203] [ENSMUST00000153491] [ENSMUST00000160276] [ENSMUST00000161620] [ENSMUST00000163034] [ENSMUST00000179001]

Predicted Effect

probably damaging
Transcript: ENSMUST00000049262
AA Change: V154A

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000049022
Gene: ENSMUSG00000037902
AA Change: V154A

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 damaging
Transcript: ENSMUST00000103202
AA Change: V154A

PolyPhen 2 Score 0.978 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000099491
Gene: ENSMUSG00000037902
AA Change: V154A

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 damaging
Transcript: ENSMUST00000103203
AA Change: V154A

PolyPhen 2 Score 0.978 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000099492
Gene: ENSMUSG00000037902
AA Change: V154A

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

probably damaging
Transcript: ENSMUST00000161620
AA Change: V154A

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000124048
Gene: ENSMUSG00000037902
AA Change: V154A

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: 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

Predicted Effect

probably damaging
Transcript: ENSMUST00000179001
AA Change: V154A

PolyPhen 2 Score 0.978 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000137611
Gene: ENSMUSG00000037902
AA Change: V154A

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

Coding Region Coverage

1x: 99.4%
3x: 98.9%
10x: 97.5%
20x: 95.1%

Validation Efficiency

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
5430419D17Rik	T	A	7: 131,194,303		probably null	Het
A3galt2	A	G	4: 128,767,148	R197G	possibly damaging	Het
Acacb	A	T	5: 114,209,817	H983L	probably damaging	Het
Adal	T	A	2: 121,148,317	D139E	probably benign	Het
Adam6b	G	A	12: 113,490,610	R349H	probably damaging	Het
Agap1	A	G	1: 89,671,212	K331E	probably damaging	Het
Alyref	T	C	11: 120,598,307	D11G	probably damaging	Het
B3gat1	A	G	9: 26,756,081	E203G	probably damaging	Het
Bsn	T	C	9: 108,116,396	E719G	possibly damaging	Het
Cap2	G	C	13: 46,638,022		probably null	Het
Ccni	A	G	5: 93,202,327	V31A	probably benign	Het
Cfap54	A	T	10: 92,899,160	L2343*	probably null	Het
Clns1a	T	A	7: 97,714,032	Y204N	possibly damaging	Het
Cox11	C	T	11: 90,644,500	T259I	probably damaging	Het
D430042O09Rik	T	C	7: 125,795,385	V211A	probably benign	Het
Dsp	A	G	13: 38,187,893	N940S	probably benign	Het
Erbb2	T	C	11: 98,436,439	V1181A	probably benign	Het
Exoc4	T	C	6: 33,862,087	V686A	possibly damaging	Het
F830045P16Rik	A	G	2: 129,463,464	V330A	possibly damaging	Het
Fam71a	T	C	1: 191,162,908	S513G	probably benign	Het
Fbf1	A	C	11: 116,155,034	F245V	probably damaging	Het
Fut10	T	A	8: 31,236,197	F327I	probably damaging	Het
Galnt1	C	T	18: 24,254,633	P144S	probably damaging	Het
Ghrhr	A	T	6: 55,379,186	D88V	possibly damaging	Het
Greb1l	T	A	18: 10,560,331	C1864S	probably damaging	Het
Hist1h1c	T	C	13: 23,739,123	I92T	probably benign	Het
Hps1	T	C	19: 42,762,553	E336G	probably damaging	Het
Ibsp	GGAAGAAGAAGAAGAAGA	GGAAGAAGAAGAAGA	5: 104,310,069		probably benign	Het
Irgc1	C	A	7: 24,433,328	E21D	possibly damaging	Het
Itsn1	A	T	16: 91,828,280	R590*	probably null	Het
Lmln	T	C	16: 33,066,324	V67A	probably damaging	Het
Lsm14a	T	C	7: 34,365,617	Q179R	probably damaging	Het
Ltbr	A	C	6: 125,312,873	D119E	probably benign	Het
Mrc1	A	G	2: 14,279,894	T565A	possibly damaging	Het
Muc6	A	C	7: 141,649,674	N473K	possibly damaging	Het
Myocd	A	T	11: 65,187,240	D448E	probably benign	Het
Neil2	T	A	14: 63,183,526	I239F	probably damaging	Het
Npnt	A	G	3: 132,914,414	F123S	possibly damaging	Het
Olfr1164	T	A	2: 88,093,022	R305*	probably null	Het
Olfr117	T	A	17: 37,660,106	I76F	probably damaging	Het
Olfr1309	T	C	2: 111,983,300	Y258C	probably damaging	Het
Olfr1501	C	T	19: 13,838,538	V212M	possibly damaging	Het
Olfr683	T	C	7: 105,144,074	D73G	probably damaging	Het
Olfr686	C	A	7: 105,203,614	C243F	probably damaging	Het
Olfr933	A	C	9: 38,976,251		probably null	Het
Pcnx3	T	C	19: 5,672,618	T941A	probably benign	Het
Phldb3	G	A	7: 24,612,579	R106Q	probably benign	Het
Pitrm1	C	A	13: 6,575,079	Y864*	probably null	Het
Plcb4	T	C	2: 135,982,075	I844T	probably benign	Het
Plekhg5	T	C	4: 152,112,219	C695R	probably damaging	Het
Ppp1r3b	T	A	8: 35,384,501	F165I	probably damaging	Het
Prr5	T	A	15: 84,703,121	F357L	probably damaging	Het
Rasgrf1	A	T	9: 90,009,366	I1046F	probably damaging	Het
Rbm15b	T	C	9: 106,885,364	Y535C	probably damaging	Het
Rbp3	A	T	14: 33,955,901	E602V	probably damaging	Het
Rimklb	T	C	6: 122,456,333	N343S	probably benign	Het
Rrp12	A	G	19: 41,871,760	L1008P	probably damaging	Het
Sec63	C	T	10: 42,798,798	R226C	probably damaging	Het
Slc13a5	C	G	11: 72,250,800	V405L	probably damaging	Het
Slc17a3	C	T	13: 23,855,858	S293F	probably damaging	Het
Slc22a23	G	A	13: 34,183,261	T588I	probably damaging	Het
Slc22a27	C	A	19: 7,926,791		probably benign	Het
Slc4a4	A	C	5: 89,156,336	H502P	possibly damaging	Het
Slc5a5	A	T	8: 70,889,633	M258K	probably damaging	Het
Spry4	A	G	18: 38,590,089	I207T	possibly damaging	Het
Stk11ip	A	G	1: 75,529,067	D460G	possibly damaging	Het
Syn3	T	A	10: 86,448,886	I117F	possibly damaging	Het
Tead4	C	T	6: 128,243,402	A224T	probably damaging	Het
Tmtc3	A	T	10: 100,450,322	N546K	probably benign	Het
Tnn	T	A	1: 160,088,466	H1227L	probably damaging	Het
Tor2a	G	A	2: 32,758,704	G62D	probably damaging	Het
Trf	T	C	9: 103,226,879		probably null	Het
Ubr5	T	C	15: 37,968,493	T2727A	probably damaging	Het
Vmn2r27	T	A	6: 124,231,619	T56S	probably benign	Het
Wipf3	T	G	6: 54,496,501	L458R	probably damaging	Het
Zfp236	T	C	18: 82,629,994	K966R	probably damaging	Het
Zfp27	T	A	7: 29,894,107	H811L	possibly damaging	Het
Zfp366	A	G	13: 99,234,260	H496R	probably damaging	Het
Zfp467	A	T	6: 48,438,755	V321E	probably damaging	Het

Other mutations in Sirpa

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00835:Sirpa	APN	2	129609183	missense	probably damaging	1.00
IGL01138:Sirpa	APN	2	129630165	missense	probably damaging	1.00
IGL01835:Sirpa	APN	2	129615564	missense	possibly damaging	0.76
IGL02558:Sirpa	APN	2	129630069	missense	probably damaging	1.00
IGL02825:Sirpa	APN	2	129615452	missense	probably damaging	0.99
IGL03083:Sirpa	APN	2	129629928	missense	probably damaging	1.00
R0234:Sirpa	UTSW	2	129615468	missense	probably damaging	0.99
R0831:Sirpa	UTSW	2	129627936	splice site	probably benign
R1550:Sirpa	UTSW	2	129630041	missense	probably damaging	1.00
R1772:Sirpa	UTSW	2	129616456	missense	probably damaging	0.99
R1806:Sirpa	UTSW	2	129615512	missense	probably damaging	1.00
R1927:Sirpa	UTSW	2	129616376	missense	possibly damaging	0.46
R2568:Sirpa	UTSW	2	129615648	missense	probably benign	0.02
R4849:Sirpa	UTSW	2	129609243	missense	probably damaging	1.00
R5182:Sirpa	UTSW	2	129615732	missense	possibly damaging	0.65
R5673:Sirpa	UTSW	2	129630102	missense	probably damaging	1.00
R5680:Sirpa	UTSW	2	129616252	missense	probably benign	0.02
R6521:Sirpa	UTSW	2	129630155	missense	probably damaging	1.00
R6821:Sirpa	UTSW	2	129630097	missense	probably damaging	1.00
R7602:Sirpa	UTSW	2	129609152	missense	probably damaging	1.00
R7637:Sirpa	UTSW	2	129616445	missense	probably benign	0.44
RF018:Sirpa	UTSW	2	129609203	nonsense	probably null
RF049:Sirpa	UTSW	2	129609203	nonsense	probably null
Z1088:Sirpa	UTSW	2	129618535	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TAGTGTCACCAGTCTAGAGACGCC -3'
(R):5'- GACAGGTTAGCAATCCCACGAAGAG -3'

Sequencing Primer
(F):5'- ACGCCATACGGTTTAGTAGTAG -3'
(R):5'- ATGGAGTTTAGTACCACCCTGAC -3'

Posted On

2013-07-11