Mutagenetix > Incidental Mutation

Incidental Mutation 'R4734:Piezo1'

359168

Institutional Source

Beutler Lab

Gene Symbol

Piezo1

Ensembl Gene

ENSMUSG00000014444

Gene Name

piezo-type mechanosensitive ion channel component 1

Synonyms

Fam38a, Piezo1

MMRRC Submission

041961-MU

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R4734 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

122481698-122551329 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 122498206 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Lysine at position 654 (Q654K)

Ref Sequence

ENSEMBL: ENSMUSP00000114584 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000067252] [ENSMUST00000127664] [ENSMUST00000128383] [ENSMUST00000156333]

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000067252
AA Change: Q653K

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000089777
Gene: ENSMUSG00000014444
AA Change: Q653K

Domain	Start	End	E-Value	Type
transmembrane domain	5	24	N/A	INTRINSIC
transmembrane domain	29	46	N/A	INTRINSIC
transmembrane domain	59	81	N/A	INTRINSIC
transmembrane domain	121	143	N/A	INTRINSIC
low complexity region	156	169	N/A	INTRINSIC
transmembrane domain	211	233	N/A	INTRINSIC
transmembrane domain	248	270	N/A	INTRINSIC
transmembrane domain	316	333	N/A	INTRINSIC
low complexity region	353	368	N/A	INTRINSIC
low complexity region	396	408	N/A	INTRINSIC
transmembrane domain	433	455	N/A	INTRINSIC
transmembrane domain	468	490	N/A	INTRINSIC
transmembrane domain	513	535	N/A	INTRINSIC
internal_repeat_1	541	658	5.31e-5	PROSPERO
transmembrane domain	685	707	N/A	INTRINSIC
low complexity region	738	753	N/A	INTRINSIC
transmembrane domain	817	839	N/A	INTRINSIC
transmembrane domain	844	866	N/A	INTRINSIC
low complexity region	940	952	N/A	INTRINSIC
transmembrane domain	979	1001	N/A	INTRINSIC
transmembrane domain	1005	1022	N/A	INTRINSIC
transmembrane domain	1035	1057	N/A	INTRINSIC
transmembrane domain	1154	1171	N/A	INTRINSIC
transmembrane domain	1178	1197	N/A	INTRINSIC
Pfam:PIEZO	1229	1458	1.1e-97	PFAM
low complexity region	1475	1486	N/A	INTRINSIC
internal_repeat_1	1646	1752	5.31e-5	PROSPERO
low complexity region	1905	1921	N/A	INTRINSIC
transmembrane domain	1976	1998	N/A	INTRINSIC
transmembrane domain	2018	2038	N/A	INTRINSIC
transmembrane domain	2045	2067	N/A	INTRINSIC
transmembrane domain	2077	2094	N/A	INTRINSIC
Pfam:Piezo_RRas_bdg	2126	2544	3.2e-157	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000127664

SMART Domains

Protein: ENSMUSP00000118564
Gene: ENSMUSG00000092329

Domain	Start	End	E-Value	Type
Pfam:Glycos_transf_2	104	287	7.4e-31	PFAM
Pfam:Glyco_transf_7C	261	331	4.9e-8	PFAM
RICIN	406	531	9.28e-27	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000128383
AA Change: Q215K

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000116194
Gene: ENSMUSG00000014444
AA Change: Q215K

Domain	Start	End	E-Value	Type
signal peptide	1	26	N/A	INTRINSIC
transmembrane domain	31	53	N/A	INTRINSIC
transmembrane domain	75	97	N/A	INTRINSIC
transmembrane domain	143	165	N/A	INTRINSIC
transmembrane domain	169	188	N/A	INTRINSIC
transmembrane domain	195	217	N/A	INTRINSIC
transmembrane domain	247	269	N/A	INTRINSIC
low complexity region	300	315	N/A	INTRINSIC
transmembrane domain	379	401	N/A	INTRINSIC
transmembrane domain	406	428	N/A	INTRINSIC
low complexity region	502	514	N/A	INTRINSIC
transmembrane domain	541	563	N/A	INTRINSIC
transmembrane domain	567	584	N/A	INTRINSIC
transmembrane domain	597	619	N/A	INTRINSIC
transmembrane domain	716	733	N/A	INTRINSIC
transmembrane domain	740	759	N/A	INTRINSIC
transmembrane domain	774	796	N/A	INTRINSIC
transmembrane domain	803	820	N/A	INTRINSIC
low complexity region	848	859	N/A	INTRINSIC
coiled coil region	895	926	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000148497

SMART Domains

Protein: ENSMUSP00000121725
Gene: ENSMUSG00000014444

Domain	Start	End	E-Value	Type
transmembrane domain	33	55	N/A	INTRINSIC
low complexity region	86	101	N/A	INTRINSIC
transmembrane domain	165	187	N/A	INTRINSIC
low complexity region	288	300	N/A	INTRINSIC
transmembrane domain	351	373	N/A	INTRINSIC
transmembrane domain	386	408	N/A	INTRINSIC
transmembrane domain	505	522	N/A	INTRINSIC
transmembrane domain	529	548	N/A	INTRINSIC
Pfam:PIEZO	580	809	3.2e-98	PFAM
low complexity region	826	837	N/A	INTRINSIC
low complexity region	1003	1020	N/A	INTRINSIC
low complexity region	1046	1063	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000156333
AA Change: Q654K

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000114584
Gene: ENSMUSG00000014444
AA Change: Q654K

Domain	Start	End	E-Value	Type
transmembrane domain	5	24	N/A	INTRINSIC
transmembrane domain	29	46	N/A	INTRINSIC
transmembrane domain	59	81	N/A	INTRINSIC
transmembrane domain	121	143	N/A	INTRINSIC
low complexity region	157	170	N/A	INTRINSIC
transmembrane domain	212	234	N/A	INTRINSIC
transmembrane domain	249	271	N/A	INTRINSIC
transmembrane domain	317	334	N/A	INTRINSIC
low complexity region	354	369	N/A	INTRINSIC
low complexity region	397	409	N/A	INTRINSIC
transmembrane domain	434	456	N/A	INTRINSIC
transmembrane domain	469	491	N/A	INTRINSIC
transmembrane domain	514	536	N/A	INTRINSIC
internal_repeat_1	542	659	4.88e-5	PROSPERO
transmembrane domain	686	708	N/A	INTRINSIC
low complexity region	739	754	N/A	INTRINSIC
transmembrane domain	818	840	N/A	INTRINSIC
transmembrane domain	845	867	N/A	INTRINSIC
low complexity region	941	953	N/A	INTRINSIC
transmembrane domain	980	1002	N/A	INTRINSIC
transmembrane domain	1006	1023	N/A	INTRINSIC
transmembrane domain	1036	1058	N/A	INTRINSIC
transmembrane domain	1155	1172	N/A	INTRINSIC
transmembrane domain	1179	1198	N/A	INTRINSIC
Pfam:PIEZO	1230	1459	2.3e-94	PFAM
low complexity region	1476	1487	N/A	INTRINSIC
internal_repeat_1	1647	1753	4.88e-5	PROSPERO
low complexity region	1906	1922	N/A	INTRINSIC
transmembrane domain	1977	1999	N/A	INTRINSIC
transmembrane domain	2019	2039	N/A	INTRINSIC
transmembrane domain	2046	2068	N/A	INTRINSIC
transmembrane domain	2078	2095	N/A	INTRINSIC
Pfam:Piezo_RRas_bdg	2127	2545	8.7e-154	PFAM

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.0%
20x: 94.6%

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 mechanically-activated ion channel that links mechanical forces to biological signals. The encoded protein contains 36 transmembrane domains and functions as a homotetramer. Defects in this gene have been associated with dehydrated hereditary stomatocytosis. [provided by RefSeq, Jul 2015]
PHENOTYPE: Most mice homozygous for a gene trapped allele die at midgestation, exhibiting embryonic growth retardation, pericardial effusion, and vascular remodeling defects in the yolk sac and the embryo proper. [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
1700029J07Rik	A	T	8: 45,970,417	M86K	possibly damaging	Het
2700062C07Rik	A	G	18: 24,470,904	M1V	probably null	Het
Abcb11	T	A	2: 69,323,962	T87S	possibly damaging	Het
Arap3	A	G	18: 37,996,275	V210A	probably benign	Het
Avl9	T	C	6: 56,736,494	S246P	probably damaging	Het
Ccdc88a	A	G	11: 29,482,720	K222R	probably benign	Het
Chsy3	C	A	18: 59,179,413	F319L	probably benign	Het
Coro2b	T	C	9: 62,426,578	T345A	probably benign	Het
Cpb1	A	G	3: 20,263,712	V216A	probably benign	Het
Cyp2c65	A	G	19: 39,072,334	I213V	probably benign	Het
Dcaf15	A	G	8: 84,097,728	C586R	probably benign	Het
Ddr2	T	A	1: 169,998,088	E314D	probably benign	Het
Dennd5a	C	T	7: 109,896,336	R1196H	probably damaging	Het
Dnah9	G	A	11: 65,834,115	A4404V	probably damaging	Het
Dpf2	A	G	19: 5,906,999		probably null	Het
Eif2ak4	A	T	2: 118,422,087	H302L	probably damaging	Het
Eif2d	G	T	1: 131,165,152	R399L	probably damaging	Het
Fat2	A	G	11: 55,311,468	V260A	probably benign	Het
Fhod3	T	A	18: 25,028,135	Y575N	probably benign	Het
Fscb	T	C	12: 64,474,470	E74G	possibly damaging	Het
Gdpd2	G	A	X: 100,734,193	M243I	possibly damaging	Het
Glra1	C	A	11: 55,536,384	D42Y	probably damaging	Het
Gm281	T	C	14: 13,845,292	N540S	probably benign	Het
Gm8882	T	A	6: 132,361,928	N109I	unknown	Het
Gnl2	T	C	4: 125,041,018	F156L	probably benign	Het
Gpr37	C	A	6: 25,689,086	R4L	possibly damaging	Het
Hectd4	A	T	5: 121,341,977	H2892L	possibly damaging	Het
Helb	T	C	10: 120,084,849	D1063G	probably benign	Het
Htr2c	A	G	X: 147,193,797	T163A	probably benign	Het
Impact	T	A	18: 12,985,289	H188Q	probably damaging	Het
Kirrel	C	T	3: 87,089,151	M380I	probably null	Het
Lnx2	C	T	5: 147,029,137	G391R	probably damaging	Het
Lrrc19	T	C	4: 94,638,349	I324V	probably benign	Het
Lrrcc1	G	T	3: 14,562,285	Q458H	probably damaging	Het
Maml3	A	T	3: 51,689,875	D483E	probably damaging	Het
Mef2c	T	A	13: 83,662,629	*467R	probably null	Het
Mms19	T	A	19: 41,944,558	S1031C	probably damaging	Het
Myt1l	T	C	12: 29,919,926	I143T	possibly damaging	Het
Nuggc	T	C	14: 65,623,230	Y426H	probably damaging	Het
Oit3	A	T	10: 59,424,082	C500S	probably damaging	Het
Olfr464	T	A	11: 87,914,190	T239S	probably damaging	Het
Olfr470	T	C	7: 107,845,428	I102V	probably benign	Het
Olfr491	A	T	7: 108,317,752	N286I	probably damaging	Het
Olfr566	A	G	7: 102,856,979	I101T	probably damaging	Het
Oog2	T	C	4: 144,196,451	S429P	probably benign	Het
Pcnt	T	C	10: 76,437,206	D93G	probably benign	Het
Pdia5	A	T	16: 35,456,513	M95K	probably benign	Het
Pdzrn4	A	T	15: 92,770,252	R762*	probably null	Het
Ppil3	A	G	1: 58,431,269	Y141H	probably benign	Het
Rassf8	G	T	6: 145,815,540	K197N	probably benign	Het
Ryr2	T	C	13: 11,737,753	Q1894R	probably damaging	Het
Ryr3	T	A	2: 112,910,502	N487Y	probably damaging	Het
Scn5a	T	C	9: 119,539,538	Y307C	probably damaging	Het
Sdad1	C	T	5: 92,304,977	R134Q	possibly damaging	Het
Shroom1	C	T	11: 53,465,233	S370F	probably damaging	Het
Slc29a3	A	G	10: 60,716,326	V313A	probably benign	Het
Slc2a9	C	A	5: 38,382,099	G353C	probably damaging	Het
Snx33	T	A	9: 56,925,901	T295S	possibly damaging	Het
Spata31d1b	G	A	13: 59,718,358	V1107M	probably damaging	Het
Supt6	T	C	11: 78,224,683	D761G	probably benign	Het
Tfeb	T	C	17: 47,785,862	V18A	probably benign	Het
Thap12	G	T	7: 98,715,954	C443F	probably damaging	Het
Thap12	T	A	7: 98,715,955	C443*	probably null	Het
Tmem67	T	C	4: 12,063,158	D496G	probably benign	Het
Trappc8	G	A	18: 20,841,572	R900*	probably null	Het
Trim9	T	C	12: 70,248,273	N688D	probably damaging	Het
Trmt1l	A	T	1: 151,442,637	I80L	probably benign	Het
Trpm5	C	A	7: 143,082,785	V472L	probably benign	Het
Tspear	C	T	10: 77,864,695	L120F	probably damaging	Het
Ttc9b	G	A	7: 27,656,018	V238M	probably benign	Het
Usp20	A	G	2: 31,019,824	I819V	probably benign	Het
Vmn2r102	T	A	17: 19,677,533	V270E	probably damaging	Het
Vmn2r63	C	T	7: 42,928,120	M331I	probably benign	Het
Zc3h18	A	T	8: 122,383,643	D77V	probably damaging	Het
Zdhhc1	CGGGGG	CGGGGGG	8: 105,483,744		probably null	Het

Other mutations in Piezo1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00896:Piezo1	APN	8	122497870	missense	possibly damaging	0.91
IGL01094:Piezo1	APN	8	122482138	missense	probably damaging	0.99
IGL01321:Piezo1	APN	8	122487600	missense	probably damaging	0.99
IGL01695:Piezo1	APN	8	122495509	missense	possibly damaging	0.81
IGL01762:Piezo1	APN	8	122487929	nonsense	probably null
IGL01922:Piezo1	APN	8	122492692	missense	probably benign	0.41
IGL01953:Piezo1	APN	8	122491184	missense	probably damaging	1.00
IGL01997:Piezo1	APN	8	122488331	splice site	probably benign
IGL02381:Piezo1	APN	8	122498544	missense	probably benign	0.28
IGL02398:Piezo1	APN	8	122486563	missense	probably benign	0.21
IGL02562:Piezo1	APN	8	122496763	missense	probably benign	0.11
IGL02572:Piezo1	APN	8	122485305	missense	probably benign	0.28
IGL02691:Piezo1	APN	8	122501949	missense	possibly damaging	0.58
IGL02726:Piezo1	APN	8	122487155	missense	probably damaging	0.99
IGL02814:Piezo1	APN	8	122498215	missense	probably damaging	1.00
IGL02931:Piezo1	APN	8	122483519	missense	probably damaging	1.00
IGL03145:Piezo1	APN	8	122482921	missense	probably benign	0.14
FR4449:Piezo1	UTSW	8	122495569	missense	probably damaging	1.00
FR4548:Piezo1	UTSW	8	122495569	missense	probably damaging	1.00
FR4737:Piezo1	UTSW	8	122495569	missense	probably damaging	1.00
FR4976:Piezo1	UTSW	8	122495569	missense	probably damaging	1.00
LCD18:Piezo1	UTSW	8	122495569	missense	probably damaging	1.00
R0085:Piezo1	UTSW	8	122501615	missense	probably damaging	0.98
R0096:Piezo1	UTSW	8	122485370	unclassified	probably benign
R0970:Piezo1	UTSW	8	122486810	missense	possibly damaging	0.94
R1364:Piezo1	UTSW	8	122498571	missense	possibly damaging	0.61
R1460:Piezo1	UTSW	8	122502151	missense	possibly damaging	0.86
R1485:Piezo1	UTSW	8	122482049	missense	probably damaging	1.00
R1538:Piezo1	UTSW	8	122491403	missense	probably damaging	1.00
R1655:Piezo1	UTSW	8	122496822	missense	probably benign	0.09
R1700:Piezo1	UTSW	8	122487502	missense	probably damaging	1.00
R1860:Piezo1	UTSW	8	122495750	missense	possibly damaging	0.90
R1861:Piezo1	UTSW	8	122495750	missense	possibly damaging	0.90
R1899:Piezo1	UTSW	8	122482645	unclassified	probably benign
R1899:Piezo1	UTSW	8	122489566	missense	probably damaging	1.00
R1900:Piezo1	UTSW	8	122482645	unclassified	probably benign
R2018:Piezo1	UTSW	8	122482712	missense	probably benign	0.43
R2019:Piezo1	UTSW	8	122482712	missense	probably benign	0.43
R2219:Piezo1	UTSW	8	122491488	missense	probably benign	0.01
R2331:Piezo1	UTSW	8	122487266	splice site	probably null
R3016:Piezo1	UTSW	8	122506027	critical splice donor site	probably null
R3699:Piezo1	UTSW	8	122494903	missense	probably damaging	1.00
R3700:Piezo1	UTSW	8	122494903	missense	probably damaging	1.00
R3746:Piezo1	UTSW	8	122492638	missense	probably damaging	1.00
R3905:Piezo1	UTSW	8	122482143	missense	probably damaging	1.00
R4093:Piezo1	UTSW	8	122501160	critical splice donor site	probably null
R4296:Piezo1	UTSW	8	122491127	missense	probably damaging	1.00
R4396:Piezo1	UTSW	8	122498674	missense	probably damaging	0.98
R4467:Piezo1	UTSW	8	122486396	missense	probably benign	0.17
R4614:Piezo1	UTSW	8	122486411	missense	probably benign	0.25
R4642:Piezo1	UTSW	8	122495454	missense	probably damaging	1.00
R4688:Piezo1	UTSW	8	122488539	missense	probably damaging	1.00
R4749:Piezo1	UTSW	8	122486939	missense	possibly damaging	0.48
R4749:Piezo1	UTSW	8	122498206	missense	probably damaging	1.00
R4865:Piezo1	UTSW	8	122486921	missense	probably damaging	1.00
R4869:Piezo1	UTSW	8	122487545	missense	probably benign
R4962:Piezo1	UTSW	8	122486481	missense	probably benign	0.41
R5026:Piezo1	UTSW	8	122486818	missense	probably benign	0.11
R5418:Piezo1	UTSW	8	122486780	missense	probably damaging	1.00
R5625:Piezo1	UTSW	8	122482960	missense	probably benign	0.01
R5759:Piezo1	UTSW	8	122507655	missense	probably damaging	0.98
R5864:Piezo1	UTSW	8	122486373	missense	possibly damaging	0.75
R5898:Piezo1	UTSW	8	122487943	missense	probably benign	0.00
R5948:Piezo1	UTSW	8	122483347	missense	probably benign	0.01
R6052:Piezo1	UTSW	8	122506269	missense	probably damaging	1.00
R6086:Piezo1	UTSW	8	122501657	missense	possibly damaging	0.73
R6216:Piezo1	UTSW	8	122489130	missense	probably benign	0.05
R6271:Piezo1	UTSW	8	122494932	missense	probably damaging	1.00
R6549:Piezo1	UTSW	8	122500263	missense
R6723:Piezo1	UTSW	8	122507627	missense	probably benign	0.15
R6871:Piezo1	UTSW	8	122485027	splice site	probably null
R6919:Piezo1	UTSW	8	122490281	missense	probably damaging	1.00
R7085:Piezo1	UTSW	8	122490894	missense
R7105:Piezo1	UTSW	8	122482118	missense	unknown
R7267:Piezo1	UTSW	8	122497529	missense
R7337:Piezo1	UTSW	8	122485724	missense
R7381:Piezo1	UTSW	8	122501658	missense
R7480:Piezo1	UTSW	8	122498495	nonsense	probably null
R7515:Piezo1	UTSW	8	122485296	missense
R7571:Piezo1	UTSW	8	122498418	missense
R7601:Piezo1	UTSW	8	122483481	splice site	probably null
R7827:Piezo1	UTSW	8	122482920	missense	probably damaging	0.96
R7923:Piezo1	UTSW	8	122496444	missense
R7975:Piezo1	UTSW	8	122495765	missense
R8071:Piezo1	UTSW	8	122487011	missense	probably null
R8231:Piezo1	UTSW	8	122506097	missense
R8270:Piezo1	UTSW	8	122501559	missense
R8784:Piezo1	UTSW	8	122496589	splice site	probably benign
R8788:Piezo1	UTSW	8	122501794	missense
R8829:Piezo1	UTSW	8	122491014	missense
R8890:Piezo1	UTSW	8	122489591	missense
R8950:Piezo1	UTSW	8	122481990	missense	probably benign	0.01
R8994:Piezo1	UTSW	8	122483090	missense	unknown
R9036:Piezo1	UTSW	8	122488351	missense
R9145:Piezo1	UTSW	8	122482014	missense	unknown
R9146:Piezo1	UTSW	8	122500263	missense
R9251:Piezo1	UTSW	8	122492615	missense
R9307:Piezo1	UTSW	8	122487093	missense
R9375:Piezo1	UTSW	8	122501865	missense
R9424:Piezo1	UTSW	8	122491340	missense
R9578:Piezo1	UTSW	8	122497475	missense
R9722:Piezo1	UTSW	8	122498758	missense
R9775:Piezo1	UTSW	8	122482188	missense	probably damaging	0.97

Predicted Primers

PCR Primer
(F):5'- TAGCCCTCCTGAACCAGATC -3'
(R):5'- CCGCCTGGTGGTCTACAAAATC -3'

Sequencing Primer
(F):5'- TCCTGAACCAGATCGGAGAGTC -3'
(R):5'- CTGGTGGTCTACAAAATCGTCTAC -3'

Posted On

2015-11-11