Mutagenetix > Incidental Mutation

Incidental Mutation 'R8817:Sirpa'

672781

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

068727-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8817 (G1)

Quality Score

85.0076

Status

Validated

Chromosome

Chromosomal Location

129434755-129474148 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 129435558 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glycine to Aspartic acid at position 9 (G9D)

Ref Sequence

ENSEMBL: ENSMUSP00000049022 (fasta)

Gene Model

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

AlphaFold

P97797

Predicted Effect

unknown
Transcript: ENSMUST00000049262
AA Change: G9D

SMART Domains

Protein: ENSMUSP00000049022
Gene: ENSMUSG00000037902
AA Change: G9D

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

unknown
Transcript: ENSMUST00000099113
AA Change: G9D

SMART Domains

Protein: ENSMUSP00000096713
Gene: ENSMUSG00000037902
AA Change: G9D

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: G9D

PolyPhen 2 Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)

SMART Domains

Protein: ENSMUSP00000099491
Gene: ENSMUSG00000037902
AA Change: G9D

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: G9D

PolyPhen 2 Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)

SMART Domains

Protein: ENSMUSP00000099492
Gene: ENSMUSG00000037902
AA Change: G9D

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

unknown
Transcript: ENSMUST00000153491
AA Change: G9D

SMART Domains

Protein: ENSMUSP00000120324
Gene: ENSMUSG00000037902
AA Change: G9D

Domain	Start	End	E-Value	Type
signal peptide	1	31	N/A	INTRINSIC
IG	40	146	1.78e-9	SMART

Predicted Effect

unknown
Transcript: ENSMUST00000160276
AA Change: G9D

SMART Domains

Protein: ENSMUSP00000125004
Gene: ENSMUSG00000037902
AA Change: G9D

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

unknown
Transcript: ENSMUST00000161620
AA Change: G9D

SMART Domains

Protein: ENSMUSP00000124048
Gene: ENSMUSG00000037902
AA Change: G9D

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

unknown
Transcript: ENSMUST00000163034
AA Change: G9D

SMART Domains

Protein: ENSMUSP00000124888
Gene: ENSMUSG00000037902
AA Change: G9D

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 benign
Transcript: ENSMUST00000179001
AA Change: G9D

PolyPhen 2 Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)

SMART Domains

Protein: ENSMUSP00000137611
Gene: ENSMUSG00000037902
AA Change: G9D

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: 100.0%
3x: 99.9%
10x: 99.8%
20x: 99.4%

Validation Efficiency

99% (77/78)

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: 75 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aadacl4fm4	A	G	4: 144,400,361 (GRCm39)	V139A	probably benign	Het
Aass	A	T	6: 23,097,195 (GRCm39)	Y41*	probably null	Het
AI429214	G	A	8: 37,461,268 (GRCm39)	V139I	probably benign	Het
Cacna1a	G	A	8: 85,365,426 (GRCm39)	A2190T	probably benign	Het
Cstpp1	A	G	2: 91,107,343 (GRCm39)	Y320H	probably benign	Het
Cutc	T	C	19: 43,744,113 (GRCm39)	V38A	probably benign	Het
Cxcl10	G	T	5: 92,495,230 (GRCm39)	P98H	probably damaging	Het
Dop1a	T	C	9: 86,396,003 (GRCm39)	S822P	possibly damaging	Het
Dusp19	T	C	2: 80,454,631 (GRCm39)	L117P	probably damaging	Het
Emc3	A	G	6: 113,492,868 (GRCm39)	F261S	probably damaging	Het
Ephx2	T	C	14: 66,344,725 (GRCm39)	T200A	probably benign	Het
Eri1	A	C	8: 35,945,792 (GRCm39)	D164E	probably damaging	Het
Ethe1	T	C	7: 24,305,727 (GRCm39)	I158T	probably damaging	Het
Fancm	C	T	12: 65,167,331 (GRCm39)	R1547C	probably damaging	Het
Fer1l4	T	A	2: 155,890,143 (GRCm39)	T261S	probably damaging	Het
Fyb2	A	G	4: 104,802,652 (GRCm39)	R185G	probably benign	Het
Gabrp	A	T	11: 33,504,464 (GRCm39)	S284T	possibly damaging	Het
Gga2	G	A	7: 121,590,845 (GRCm39)	R488*	probably null	Het
Gm9758	A	G	5: 14,962,230 (GRCm39)	L126S	probably damaging	Het
Gse1	T	C	8: 121,294,542 (GRCm39)	F290L	probably damaging	Het
Hdgfl1	A	G	13: 26,954,068 (GRCm39)	S2P	probably damaging	Het
Hmmr	G	A	11: 40,612,499 (GRCm39)	S206F	probably damaging	Het
Huwe1	A	G	X: 150,669,993 (GRCm39)	K1482R	probably benign	Het
Lama2	A	T	10: 27,063,869 (GRCm39)	W1307R	probably damaging	Het
Map3k6	A	G	4: 132,974,071 (GRCm39)	K517E	probably benign	Het
Mbl1	T	A	14: 40,875,555 (GRCm39)	L3Q	unknown	Het
Mepe	G	T	5: 104,485,151 (GRCm39)	R97L	probably benign	Het
Minpp1	T	A	19: 32,463,747 (GRCm39)	M136K	possibly damaging	Het
Mrgprb1	T	A	7: 48,097,070 (GRCm39)	I281F	probably benign	Het
Naip5	T	C	13: 100,349,207 (GRCm39)	I1374V	probably benign	Het
Or14j8	A	G	17: 38,263,273 (GRCm39)	I214T	probably damaging	Het
Or4c12	A	G	2: 89,773,790 (GRCm39)	L223S	probably damaging	Het
Or52e19b	A	T	7: 103,032,825 (GRCm39)	I128N	probably damaging	Het
Or8g34	C	T	9: 39,373,387 (GRCm39)	S217F	probably damaging	Het
Or8g37	G	T	9: 39,730,939 (GRCm39)	M1I	probably null	Het
Pamr1	T	G	2: 102,464,766 (GRCm39)	V305G	probably benign	Het
Pcbp3	T	C	10: 76,625,670 (GRCm39)	T125A	probably benign	Het
Peli2	G	A	14: 48,490,130 (GRCm39)	E201K	possibly damaging	Het
Pitpnm3	T	C	11: 71,941,894 (GRCm39)	E971G	possibly damaging	Het
Pkdrej	A	G	15: 85,702,774 (GRCm39)	V1054A	probably damaging	Het
Plcb1	G	A	2: 135,175,429 (GRCm39)		probably benign	Het
Prpf40a	T	C	2: 53,042,971 (GRCm39)	K480E	probably damaging	Het
Psd3	A	G	8: 68,413,135 (GRCm39)	I465T	possibly damaging	Het
Pskh1	C	T	8: 106,656,352 (GRCm39)	R343W	probably damaging	Het
Ptprz1	A	T	6: 23,007,371 (GRCm39)	T1645S	probably damaging	Het
Rasal1	T	C	5: 120,808,416 (GRCm39)	F483L	probably damaging	Het
Rbm28	T	C	6: 29,155,023 (GRCm39)		probably benign	Het
Recql	G	A	6: 142,304,612 (GRCm39)		probably benign	Het
Rnf40	T	C	7: 127,196,332 (GRCm39)	V760A	probably damaging	Het
Rp1l1	A	T	14: 64,268,085 (GRCm39)	R1224W	probably benign	Het
Rpgrip1	T	C	14: 52,378,056 (GRCm39)	V468A	probably benign	Het
Ryr2	T	A	13: 11,750,509 (GRCm39)	I1921F	possibly damaging	Het
Slc28a2b	A	T	2: 122,348,988 (GRCm39)	T305S	possibly damaging	Het
Slc40a1	A	C	1: 45,948,699 (GRCm39)	V527G	probably damaging	Het
Smarca4	T	A	9: 21,547,497 (GRCm39)	M260K	probably benign	Het
Smarca5	A	T	8: 81,460,379 (GRCm39)	M119K	probably benign	Het
Smg1	A	G	7: 117,758,887 (GRCm39)	V2206A	unknown	Het
Sp4	A	T	12: 118,225,624 (GRCm39)	V580D	possibly damaging	Het
Spata31d1c	G	A	13: 65,182,376 (GRCm39)	C75Y	probably damaging	Het
Sppl2b	TGTCACAGGT	TGT	10: 80,701,903 (GRCm39)		probably null	Het
Srcap	T	C	7: 127,152,395 (GRCm39)	S2220P	probably benign	Het
Stra6	G	T	9: 58,059,265 (GRCm39)	V543F	possibly damaging	Het
Tenm4	T	A	7: 96,523,335 (GRCm39)	F1626I	probably benign	Het
Tjp1	T	C	7: 64,952,810 (GRCm39)	N1508S	probably benign	Het
Trrap	T	A	5: 144,782,348 (GRCm39)	L3298Q	probably damaging	Het
Tsn	A	G	1: 118,232,470 (GRCm39)	L135P	probably damaging	Het
Ttl	A	T	2: 128,910,778 (GRCm39)	H54L	probably damaging	Het
Ttn	T	A	2: 76,660,251 (GRCm39)	T12110S	unknown	Het
Uba6	T	C	5: 86,296,772 (GRCm39)	I306V	probably null	Het
Ubap2	A	G	4: 41,223,425 (GRCm39)	S204P	possibly damaging	Het
Unc13d	AATGCCTCCCATGCC	AATGCCTCCCATGCCTCCCATGCC	11: 115,958,998 (GRCm39)		probably benign	Het
Ush2a	A	T	1: 187,995,231 (GRCm39)	M1L	probably benign	Het
Vmn1r159	C	A	7: 22,542,559 (GRCm39)	V158F	probably benign	Het
Wif1	A	G	10: 120,932,621 (GRCm39)	H333R	possibly damaging	Het
Zfp282	T	A	6: 47,881,760 (GRCm39)	N482K	probably benign	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
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
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'- CGGCGTCTCATTGTGGGAG -3'
(R):5'- GCTACCCAGTCACAGTCCA -3'

Sequencing Primer
(F):5'- TGGGAGGGGGTCAGATCACC -3'
(R):5'- AGAAGAGTTCTATCCCGGCTTCTAG -3'

Posted On

2021-04-30