Mutagenetix > Incidental Mutation

Incidental Mutation 'R0234:Sirpa'

65990

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

038475-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0234 (G1)

Quality Score

202

Status

Not validated

Chromosome

Chromosomal Location

129434755-129474148 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 129457388 bp (GRCm39)

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] [ENSMUST00000179001] [ENSMUST00000163034]

AlphaFold

P97797

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 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

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: 98.8%
3x: 97.7%
10x: 94.1%
20x: 83.3%

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: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A3galt2	A	G	4: 128,660,941 (GRCm39)	R197G	possibly damaging	Het
Acacb	A	T	5: 114,347,878 (GRCm39)	H983L	probably damaging	Het
Adal	T	A	2: 120,978,798 (GRCm39)	D139E	probably benign	Het
Adam6b	G	A	12: 113,454,230 (GRCm39)	R349H	probably damaging	Het
Agap1	A	G	1: 89,598,934 (GRCm39)	K331E	probably damaging	Het
B3gat1	A	G	9: 26,667,377 (GRCm39)	E203G	probably damaging	Het
Bsn	T	C	9: 107,993,595 (GRCm39)	E719G	possibly damaging	Het
Cap2	G	C	13: 46,791,498 (GRCm39)		probably null	Het
Ccni	A	G	5: 93,350,186 (GRCm39)	V31A	probably benign	Het
Cdcp3	T	A	7: 130,796,032 (GRCm39)		probably null	Het
Clns1a	T	A	7: 97,363,239 (GRCm39)	Y204N	possibly damaging	Het
Cox11	C	T	11: 90,535,326 (GRCm39)	T259I	probably damaging	Het
Dsp	A	G	13: 38,371,869 (GRCm39)	N940S	probably benign	Het
Erbb2	T	C	11: 98,327,265 (GRCm39)	V1181A	probably benign	Het
Exoc4	T	C	6: 33,839,022 (GRCm39)	V686A	possibly damaging	Het
F830045P16Rik	A	G	2: 129,305,384 (GRCm39)	V330A	possibly damaging	Het
Fbf1	A	C	11: 116,045,860 (GRCm39)	F245V	probably damaging	Het
Fut10	T	A	8: 31,726,225 (GRCm39)	F327I	probably damaging	Het
Galnt1	C	T	18: 24,387,690 (GRCm39)	P144S	probably damaging	Het
Garin4	T	C	1: 190,895,105 (GRCm39)	S513G	probably benign	Het
Ghrhr	A	T	6: 55,356,171 (GRCm39)	D88V	possibly damaging	Het
Greb1l	T	A	18: 10,560,331 (GRCm39)	C1864S	probably damaging	Het
H1f2	T	C	13: 23,923,106 (GRCm39)	I92T	probably benign	Het
Hps1	T	C	19: 42,750,992 (GRCm39)	E336G	probably damaging	Het
Irgc	C	A	7: 24,132,753 (GRCm39)	E21D	possibly damaging	Het
Itsn1	A	T	16: 91,625,168 (GRCm39)	R590*	probably null	Het
Katnip	T	C	7: 125,394,557 (GRCm39)	V211A	probably benign	Het
Lmln	T	C	16: 32,886,694 (GRCm39)	V67A	probably damaging	Het
Lsm14a	T	C	7: 34,065,042 (GRCm39)	Q179R	probably damaging	Het
Ltbr	A	C	6: 125,289,836 (GRCm39)	D119E	probably benign	Het
Mrc1	A	G	2: 14,284,705 (GRCm39)	T565A	possibly damaging	Het
Muc6	A	C	7: 141,235,939 (GRCm39)	N473K	possibly damaging	Het
Myocd	A	T	11: 65,078,066 (GRCm39)	D448E	probably benign	Het
Neil2	T	A	14: 63,420,975 (GRCm39)	I239F	probably damaging	Het
Npnt	A	G	3: 132,620,175 (GRCm39)	F123S	possibly damaging	Het
Or2g25	T	A	17: 37,970,997 (GRCm39)	I76F	probably damaging	Het
Or4f15	T	C	2: 111,813,645 (GRCm39)	Y258C	probably damaging	Het
Or52x1	C	A	7: 104,852,821 (GRCm39)	C243F	probably damaging	Het
Or56a5	T	C	7: 104,793,281 (GRCm39)	D73G	probably damaging	Het
Or5d37	T	A	2: 87,923,366 (GRCm39)	R305*	probably null	Het
Or8d1b	A	C	9: 38,887,547 (GRCm39)		probably null	Het
Or9i2	C	T	19: 13,815,902 (GRCm39)	V212M	possibly damaging	Het
Pcnx3	T	C	19: 5,722,646 (GRCm39)	T941A	probably benign	Het
Pitrm1	C	A	13: 6,625,115 (GRCm39)	Y864*	probably null	Het
Plcb4	T	C	2: 135,823,995 (GRCm39)	I844T	probably benign	Het
Ppp1r3b	T	A	8: 35,851,655 (GRCm39)	F165I	probably damaging	Het
Prr5	T	A	15: 84,587,322 (GRCm39)	F357L	probably damaging	Het
Rbm15b	T	C	9: 106,762,563 (GRCm39)	Y535C	probably damaging	Het
Rbp3	A	T	14: 33,677,858 (GRCm39)	E602V	probably damaging	Het
Rimklb	T	C	6: 122,433,292 (GRCm39)	N343S	probably benign	Het
Rrp12	A	G	19: 41,860,199 (GRCm39)	L1008P	probably damaging	Het
Sec63	C	T	10: 42,674,794 (GRCm39)	R226C	probably damaging	Het
Slc22a23	G	A	13: 34,367,244 (GRCm39)	T588I	probably damaging	Het
Slc22a27	C	A	19: 7,904,156 (GRCm39)		probably benign	Het
Slc4a4	A	C	5: 89,304,195 (GRCm39)	H502P	possibly damaging	Het
Slc5a5	A	T	8: 71,342,277 (GRCm39)	M258K	probably damaging	Het
Spry4	A	G	18: 38,723,142 (GRCm39)	I207T	possibly damaging	Het
Stk11ip	A	G	1: 75,505,711 (GRCm39)	D460G	possibly damaging	Het
Syn3	T	A	10: 86,284,750 (GRCm39)	I117F	possibly damaging	Het
Tead4	C	T	6: 128,220,365 (GRCm39)	A224T	probably damaging	Het
Tmtc3	A	T	10: 100,286,184 (GRCm39)	N546K	probably benign	Het
Tnn	T	A	1: 159,916,036 (GRCm39)	H1227L	probably damaging	Het
Tor2a	G	A	2: 32,648,716 (GRCm39)	G62D	probably damaging	Het
Trf	T	C	9: 103,104,078 (GRCm39)		probably null	Het
Ubr5	T	C	15: 37,968,737 (GRCm39)	T2727A	probably damaging	Het
Vmn2r27	T	A	6: 124,208,578 (GRCm39)	T56S	probably benign	Het
Wipf3	T	G	6: 54,473,486 (GRCm39)	L458R	probably damaging	Het
Zfp236	T	C	18: 82,648,119 (GRCm39)	K966R	probably damaging	Het
Zfp27	T	A	7: 29,593,532 (GRCm39)	H811L	possibly damaging	Het
Zfp366	A	G	13: 99,370,768 (GRCm39)	H496R	probably damaging	Het
Zfp467	A	T	6: 48,415,689 (GRCm39)	V321E	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
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
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

Posted On

2013-08-19