Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01739:Gp5'

105801

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Gp5

Ensembl Gene

ENSMUSG00000047953

Gene Name

glycoprotein 5 platelet

Synonyms

GPV, GP V

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL01739

Quality Score

Status

Chromosome

Chromosomal Location

30126503-30129597 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 30127459 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 405 (D405G)

Ref Sequence

ENSEMBL: ENSMUSP00000051895 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000061190] [ENSMUST00000061350] [ENSMUST00000100013]

AlphaFold

no structure available at present

Predicted Effect

possibly damaging
Transcript: ENSMUST00000061190
AA Change: D405G

PolyPhen 2 Score 0.823 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000051895
Gene: ENSMUSG00000047953
AA Change: D405G

Domain	Start	End	E-Value	Type
signal peptide	1	16	N/A	INTRINSIC
Blast:LRRNT	20	54	3e-17	BLAST
LRR	73	96	2.14e0	SMART
LRR_TYP	97	120	3.11e-2	SMART
LRR_TYP	121	144	8.81e-2	SMART
LRR_TYP	145	168	1.28e-3	SMART
LRR_TYP	169	192	1.38e-3	SMART
LRR	194	216	2.14e1	SMART
LRR_TYP	217	240	1.12e-3	SMART
LRR_TYP	241	264	2.95e-3	SMART
LRR	265	288	3.76e1	SMART
LRR_TYP	289	312	3.83e-2	SMART
LRR	313	337	2.29e0	SMART
LRR_TYP	338	361	8.22e-2	SMART
LRR_TYP	362	385	9.08e-4	SMART
LRR_TYP	386	409	2.75e-3	SMART
LRRCT	421	473	8.98e-4	SMART
transmembrane domain	519	541	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000061350

SMART Domains

Protein: ENSMUSP00000051645
Gene: ENSMUSG00000022533

Domain	Start	End	E-Value	Type
Pfam:P5-ATPase	13	139	4.9e-30	PFAM
Cation_ATPase_N	154	227	7.24e0	SMART
Pfam:E1-E2_ATPase	232	483	5.1e-36	PFAM
Pfam:HAD	491	888	7.5e-28	PFAM
Pfam:Hydrolase_like2	607	661	6.8e-8	PFAM
Pfam:Hydrolase	612	790	6.5e-11	PFAM
transmembrane domain	931	953	N/A	INTRINSIC
transmembrane domain	963	985	N/A	INTRINSIC
transmembrane domain	997	1019	N/A	INTRINSIC
transmembrane domain	1068	1085	N/A	INTRINSIC
transmembrane domain	1098	1120	N/A	INTRINSIC
transmembrane domain	1135	1153	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000100013

SMART Domains

Protein: ENSMUSP00000128224
Gene: ENSMUSG00000022533

Domain	Start	End	E-Value	Type
Pfam:P5-ATPase	13	146	2.9e-38	PFAM
Cation_ATPase_N	154	227	7.24e0	SMART
Pfam:E1-E2_ATPase	232	483	7.3e-41	PFAM
Pfam:Hydrolase	488	784	1.3e-12	PFAM
Pfam:HAD	491	888	1.3e-31	PFAM
Pfam:Cation_ATPase	612	660	4.5e-7	PFAM
transmembrane domain	931	953	N/A	INTRINSIC
transmembrane domain	963	985	N/A	INTRINSIC
transmembrane domain	997	1019	N/A	INTRINSIC
transmembrane domain	1068	1085	N/A	INTRINSIC
transmembrane domain	1098	1120	N/A	INTRINSIC
transmembrane domain	1135	1157	N/A	INTRINSIC

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Human platelet glycoprotein V (GP5) is a part of the Ib-V-IX system of surface glycoproteins that constitute the receptor for von Willebrand factor (VWF; MIM 613160) and mediate the adhesion of platelets to injured vascular surfaces in the arterial circulation, a critical initiating event in hemostasis. The main portion of the receptor is a heterodimer composed of 2 polypeptide chains, an alpha chain (GP1BA; MIM 606672) and a beta chain (GP1BB; MIM 138720), that are linked by disulfide bonds. The complete receptor complex includes noncovalent association of the alpha and beta subunits with platelet glycoprotein IX (GP9; MIM 173515) and GP5. Mutations in GP1BA, GP1BB, and GP9 have been shown to cause Bernard-Soulier syndrome (MIM 231200), a bleeding disorder (review by Lopez et al., 1998 [PubMed 9616133]).[supplied by OMIM, Nov 2010]
PHENOTYPE: Homozygotes for one null allele develop normally with no spontaneous bleeding while their platelets show normal thrombin responsiveness and lack a Bernard-Soulier phenotype. In contrast, homozygotes for a second null allele show a shorter bleeding time and platelet hyperresponsiveness to thrombin. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 42 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acp4	G	T	7: 43,906,210 (GRCm39)	Y88*	probably null	Het
Aftph	T	C	11: 20,676,994 (GRCm39)	D205G	probably damaging	Het
Arhgap31	T	C	16: 38,423,793 (GRCm39)	I758V	probably benign	Het
Atg9b	A	G	5: 24,591,513 (GRCm39)		probably null	Het
Auts2	T	C	5: 131,469,056 (GRCm39)	T754A	probably benign	Het
Birc6	A	G	17: 74,966,216 (GRCm39)	M4048V	probably benign	Het
Cacna1s	T	C	1: 136,024,870 (GRCm39)		probably null	Het
Cmpk1	C	T	4: 114,822,121 (GRCm39)	A143T	probably benign	Het
Cstf2t	C	A	19: 31,060,536 (GRCm39)	P24Q	probably damaging	Het
Cwc22	A	G	2: 77,757,640 (GRCm39)	S163P	probably damaging	Het
Dnaaf11	T	A	15: 66,321,326 (GRCm39)	M272L	probably benign	Het
Faf1	T	A	4: 109,534,278 (GRCm39)		probably benign	Het
Focad	T	A	4: 88,289,043 (GRCm39)	I1279N	unknown	Het
Guf1	C	A	5: 69,718,501 (GRCm39)	N213K	probably damaging	Het
Hacd4	T	C	4: 88,341,285 (GRCm39)	T145A	probably damaging	Het
Itga11	T	C	9: 62,681,399 (GRCm39)	M1005T	probably benign	Het
Mast4	T	A	13: 102,910,781 (GRCm39)	T621S	probably damaging	Het
Mme	T	C	3: 63,247,534 (GRCm39)	M273T	possibly damaging	Het
Mos	A	G	4: 3,871,816 (GRCm39)		probably benign	Het
Msln	C	T	17: 25,969,004 (GRCm39)		probably null	Het
Mtg1	A	T	7: 139,730,149 (GRCm39)	Q315L	probably benign	Het
Myh1	A	G	11: 67,105,354 (GRCm39)	E1048G	probably damaging	Het
Ndufa9	C	T	6: 126,821,777 (GRCm39)	G66D	probably damaging	Het
Nr1i2	T	C	16: 38,086,333 (GRCm39)	K44R	probably benign	Het
Nup155	T	A	15: 8,165,272 (GRCm39)	M636K	probably benign	Het
Or12d12	A	T	17: 37,610,673 (GRCm39)	F213L	probably benign	Het
Or5b96	T	A	19: 12,867,513 (GRCm39)	T143S	probably benign	Het
Pde4b	A	T	4: 102,458,832 (GRCm39)	Q496L	probably damaging	Het
Plekha6	T	C	1: 133,187,869 (GRCm39)	V130A	probably benign	Het
Prag1	A	G	8: 36,569,834 (GRCm39)	N139S	probably benign	Het
Rbpj-ps3	T	C	6: 46,507,694 (GRCm39)	T19A	probably benign	Het
Scai	A	G	2: 38,984,803 (GRCm39)		probably benign	Het
Slc12a7	A	G	13: 73,947,733 (GRCm39)	T617A	probably benign	Het
Slc15a2	T	C	16: 36,576,592 (GRCm39)	M481V	probably benign	Het
Snx5	A	G	2: 144,112,325 (GRCm39)	L8P	probably benign	Het
Spg11	C	T	2: 121,945,152 (GRCm39)	A123T	probably damaging	Het
Supt6	T	A	11: 78,113,013 (GRCm39)	I977F	probably damaging	Het
Tjp3	T	C	10: 81,114,490 (GRCm39)	D442G	probably benign	Het
Ttc21b	A	T	2: 66,068,200 (GRCm39)	N275K	probably benign	Het
Vmn2r50	A	G	7: 9,771,364 (GRCm39)	F779S	probably damaging	Het
Xirp2	A	T	2: 67,345,482 (GRCm39)	R2574S	probably benign	Het
Zbp1	T	C	2: 173,054,038 (GRCm39)	E161G	possibly damaging	Het

Other mutations in Gp5

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00338:Gp5	APN	16	30,127,640 (GRCm39)	missense	probably benign	0.01
IGL00833:Gp5	APN	16	30,128,284 (GRCm39)	missense	possibly damaging	0.89
IGL01284:Gp5	APN	16	30,128,028 (GRCm39)	missense	probably benign	0.00
IGL02009:Gp5	APN	16	30,128,482 (GRCm39)	missense	probably benign	0.00
IGL02339:Gp5	APN	16	30,128,008 (GRCm39)	missense	probably damaging	1.00
IGL03120:Gp5	APN	16	30,127,016 (GRCm39)	missense	possibly damaging	0.49
R0677:Gp5	UTSW	16	30,127,193 (GRCm39)	missense	probably benign	0.08
R4944:Gp5	UTSW	16	30,128,326 (GRCm39)	missense	possibly damaging	0.91
R7365:Gp5	UTSW	16	30,127,426 (GRCm39)	missense	probably damaging	1.00
R8923:Gp5	UTSW	16	30,128,222 (GRCm39)	missense	probably damaging	1.00
R9051:Gp5	UTSW	16	30,127,976 (GRCm39)	missense
R9284:Gp5	UTSW	16	30,127,094 (GRCm39)	missense	probably damaging	1.00
R9324:Gp5	UTSW	16	30,127,808 (GRCm39)	missense	possibly damaging	0.95
R9582:Gp5	UTSW	16	30,127,057 (GRCm39)	missense	probably benign	0.01
R9614:Gp5	UTSW	16	30,128,393 (GRCm39)	missense	probably damaging	1.00
R9615:Gp5	UTSW	16	30,128,393 (GRCm39)	missense	probably damaging	1.00
R9651:Gp5	UTSW	16	30,128,393 (GRCm39)	missense	probably damaging	1.00
R9652:Gp5	UTSW	16	30,128,393 (GRCm39)	missense	probably damaging	1.00

Posted On

2014-01-21