Mutagenetix > Incidental Mutation

Incidental Mutation 'R9324:Gp5'

706417

Institutional Source

Beutler Lab

Gene Symbol

Gp5

Ensembl Gene

ENSMUSG00000047953

Gene Name

glycoprotein 5 platelet

Synonyms

GPV, GP V

MMRRC Submission

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R9324 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

30126503-30129597 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 30127808 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Valine at position 289 (M289V)

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: M289V

PolyPhen 2 Score 0.949 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000051895
Gene: ENSMUSG00000047953
AA Change: M289V

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

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.9%

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: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acsm2	A	G	7: 119,179,856 (GRCm39)	H358R	probably benign	Het
Arid3c	A	G	4: 41,730,138 (GRCm39)	L19S	possibly damaging	Het
Arpp21	T	A	9: 111,986,765 (GRCm39)	D262V	probably damaging	Het
Atp4a	A	C	7: 30,415,207 (GRCm39)	I276L	probably benign	Het
Axl	C	G	7: 25,460,982 (GRCm39)	E676Q	probably damaging	Het
Ces1g	T	C	8: 94,055,118 (GRCm39)	D193G	probably damaging	Het
Crym	A	G	7: 119,789,005 (GRCm39)	V274A	probably damaging	Het
Efcab5	T	A	11: 77,004,546 (GRCm39)	H924L	possibly damaging	Het
Eif1ad7	T	A	12: 88,238,709 (GRCm39)	N17I	unknown	Het
Eif3l	T	A	15: 78,978,423 (GRCm39)	M560K	probably benign	Het
Fam234b	C	A	6: 135,202,793 (GRCm39)	Y382*	probably null	Het
Fbxw19	T	C	9: 109,313,440 (GRCm39)	K253E	possibly damaging	Het
Fhip1a	T	C	3: 85,638,053 (GRCm39)	D82G	probably benign	Het
Flt3	A	G	5: 147,313,790 (GRCm39)	S87P	probably benign	Het
Garin3	A	T	11: 46,295,810 (GRCm39)	I61F		Het
Ggnbp2	A	G	11: 84,725,174 (GRCm39)	L627S	probably damaging	Het
Gm26661	T	G	14: 7,791,765 (GRCm38)	V60G	unknown	Het
Golt1a	T	C	1: 133,247,094 (GRCm39)	L34P	probably damaging	Het
Gpr63	C	G	4: 25,008,432 (GRCm39)	H385Q	possibly damaging	Het
Hcn1	G	A	13: 118,111,901 (GRCm39)	V622I	unknown	Het
Hipk4	A	G	7: 27,228,834 (GRCm39)	D428G	probably damaging	Het
Hs3st1	T	C	5: 39,772,145 (GRCm39)	Y166C	probably damaging	Het
Hsd17b3	A	G	13: 64,206,459 (GRCm39)	F281S	possibly damaging	Het
Ifih1	T	C	2: 62,475,950 (GRCm39)	T109A	probably benign	Het
Ighv1-64	T	A	12: 115,471,645 (GRCm39)		probably benign	Het
Ina	T	C	19: 47,003,816 (GRCm39)	L208P		Het
Iqcn	C	T	8: 71,161,794 (GRCm39)	T329I	possibly damaging	Het
Irak2	T	C	6: 113,615,604 (GRCm39)		probably null	Het
Klhl10	G	A	11: 100,338,481 (GRCm39)	E407K	probably benign	Het
Krt81	A	G	15: 101,361,335 (GRCm39)	S82P	probably damaging	Het
Ktn1	C	A	14: 47,948,353 (GRCm39)	Q963K	probably benign	Het
Lgalsl2	G	A	7: 5,362,527 (GRCm39)	V53I	possibly damaging	Het
Lrrc42	A	T	4: 107,104,913 (GRCm39)	Y17*	probably null	Het
Lrrc9	A	C	12: 72,496,171 (GRCm39)	E15D	probably damaging	Het
Mak	G	A	13: 41,202,839 (GRCm39)	T203I	probably benign	Het
Masp2	T	C	4: 148,692,485 (GRCm39)	V326A	possibly damaging	Het
Mdc1	T	C	17: 36,164,258 (GRCm39)	S1269P	probably benign	Het
Mink1	G	A	11: 70,502,477 (GRCm39)	V1027M	probably damaging	Het
Mrps10	C	A	17: 47,686,903 (GRCm39)	S123*	probably null	Het
Myl10	C	T	5: 136,729,787 (GRCm39)	H142Y	probably damaging	Het
Ncan	T	C	8: 70,560,648 (GRCm39)	Q773R	possibly damaging	Het
Nlrp3	T	A	11: 59,434,141 (GRCm39)	M68K	probably damaging	Het
Ntrk1	C	T	3: 87,698,745 (GRCm39)	V99M	possibly damaging	Het
Odad3	T	C	9: 21,903,207 (GRCm39)	E402G	probably damaging	Het
Or4p22	C	T	2: 88,317,787 (GRCm39)	T237I	probably damaging	Het
Or5an1	A	G	19: 12,260,939 (GRCm39)	R176G	probably benign	Het
Or8c8	A	G	9: 38,164,962 (GRCm39)	K80R	probably benign	Het
Phldb2	A	G	16: 45,595,437 (GRCm39)	V830A	probably damaging	Het
Phospho2	T	C	2: 69,625,913 (GRCm39)	V23A	probably damaging	Het
Plxnc1	G	A	10: 94,780,685 (GRCm39)		probably benign	Het
Ppcdc	T	C	9: 57,342,280 (GRCm39)	E14G	probably benign	Het
Ralgapa2	T	C	2: 146,302,645 (GRCm39)	Y106C	probably damaging	Het
Rgs22	T	C	15: 36,087,544 (GRCm39)	Q582R	probably benign	Het
Rngtt	T	A	4: 33,320,613 (GRCm39)	Y53*	probably null	Het
Slc12a3	T	G	8: 95,083,028 (GRCm39)		probably null	Het
Slc26a11	A	G	11: 119,267,730 (GRCm39)	T456A	probably benign	Het
Slc26a5	G	T	5: 22,018,334 (GRCm39)	A677E	possibly damaging	Het
Smurf1	T	C	5: 144,817,463 (GRCm39)	T690A	probably benign	Het
Spata24	A	T	18: 35,790,064 (GRCm39)	N142K	probably damaging	Het
Ubqlnl	A	T	7: 103,798,962 (GRCm39)	N178K	possibly damaging	Het
Uggt2	A	G	14: 119,312,741 (GRCm39)		probably null	Het
Vmn1r2	C	A	4: 3,172,678 (GRCm39)	A199D	probably damaging	Het
Vmn2r39	T	C	7: 9,030,684 (GRCm39)	N128S	probably damaging	Het
Vmn2r61	G	T	7: 41,916,619 (GRCm39)	V411F	probably benign	Het
Vmn2r-ps117	T	A	17: 19,042,911 (GRCm39)	F106L	probably benign	Het
Zfp503	A	T	14: 22,035,353 (GRCm39)	I521N	possibly damaging	Het
Zfp831	T	C	2: 174,547,113 (GRCm39)	V1432A	probably benign	Het
Zfp981	T	A	4: 146,619,884 (GRCm39)	L13I	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
IGL01739:Gp5	APN	16	30,127,459 (GRCm39)	missense	possibly damaging	0.82
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
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

Predicted Primers

PCR Primer
(F):5'- TCCAGCTGGTTGTGCTCTAG -3'
(R):5'- GCTGCTCTATTCAAACCAGC -3'

Sequencing Primer
(F):5'- TCTCGAGGCTGCTGAGG -3'
(R):5'- TCAAACCAGCTCACGTCTGTGG -3'

Posted On

2022-04-18