Mutagenetix > Incidental Mutation

Incidental Mutation 'R0085:Piezo1'

19860

Institutional Source

Beutler Lab

Gene Symbol

Piezo1

Ensembl Gene

ENSMUSG00000014444

Gene Name

piezo-type mechanosensitive ion channel component 1

Synonyms

Fam38a, Piezo1

MMRRC Submission

038372-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R0085 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

123208437-123278068 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 123228354 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 310 (L310P)

Ref Sequence

ENSEMBL: ENSMUSP00000089777 (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: L310P

PolyPhen 2 Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000089777
Gene: ENSMUSG00000014444
AA Change: L310P

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 benign
Transcript: ENSMUST00000128383

SMART Domains

Protein: ENSMUSP00000116194
Gene: ENSMUSG00000014444

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: L311P

PolyPhen 2 Score 0.977 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000114584
Gene: ENSMUSG00000014444
AA Change: L311P

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

Meta Mutation Damage Score

0.3941

Coding Region Coverage

1x: 99.0%
3x: 98.1%
10x: 95.6%
20x: 90.4%

Validation Efficiency

95% (71/75)

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: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acad12	A	G	5: 121,742,357 (GRCm39)	I417T	possibly damaging	Het
Adcy9	T	C	16: 4,106,088 (GRCm39)	T1009A	probably benign	Het
Ass1	A	T	2: 31,404,831 (GRCm39)	N371Y	probably damaging	Het
Baat	T	C	4: 49,490,425 (GRCm39)		probably benign	Het
Bpi	T	A	2: 158,115,072 (GRCm39)	L311*	probably null	Het
Brd2	A	C	17: 34,332,233 (GRCm39)	F294L	probably damaging	Het
Carmil1	T	A	13: 24,209,850 (GRCm39)	E804D	probably benign	Het
Cd209g	A	T	8: 4,184,785 (GRCm39)		probably benign	Het
Cfi	A	G	3: 129,668,635 (GRCm39)	I554V	probably benign	Het
Clvs2	G	C	10: 33,498,542 (GRCm39)	S129R	possibly damaging	Het
Dst	T	C	1: 34,268,268 (GRCm39)	S2897P	probably damaging	Het
Efcab7	T	C	4: 99,761,877 (GRCm39)		probably benign	Het
Fbxo2	T	C	4: 148,249,367 (GRCm39)		probably null	Het
Fgfr2	C	A	7: 129,797,993 (GRCm39)	R400L	probably damaging	Het
Hsd17b14	T	C	7: 45,205,834 (GRCm39)		probably benign	Het
Il23r	T	C	6: 67,463,206 (GRCm39)	N96D	probably damaging	Het
Ints13	T	A	6: 146,476,285 (GRCm39)		probably benign	Het
Khdc4	T	A	3: 88,619,046 (GRCm39)	S583R	probably damaging	Het
Lig1	A	G	7: 13,041,495 (GRCm39)	I776V	possibly damaging	Het
Madd	T	C	2: 90,993,083 (GRCm39)	I997V	probably benign	Het
Mgat4b	C	T	11: 50,121,826 (GRCm39)	H116Y	possibly damaging	Het
Myh11	C	A	16: 14,041,883 (GRCm39)	Q720H	probably damaging	Het
Myo5b	A	C	18: 74,834,751 (GRCm39)	D937A	probably benign	Het
Nox3	T	C	17: 3,685,556 (GRCm39)	N584S	probably benign	Het
Ogfr	A	G	2: 180,232,830 (GRCm39)		probably null	Het
Or11g25	T	A	14: 50,723,791 (GRCm39)	M292K	probably benign	Het
Or13p3	T	C	4: 118,567,078 (GRCm39)	V158A	probably benign	Het
Or8b1b	T	C	9: 38,375,958 (GRCm39)	I207T	probably benign	Het
Osbpl6	G	T	2: 76,423,758 (GRCm39)	V728F	probably benign	Het
Picalm	T	A	7: 89,831,525 (GRCm39)	S453T	probably benign	Het
Pitrm1	C	T	13: 6,599,604 (GRCm39)		probably benign	Het
Pkd1	T	C	17: 24,805,197 (GRCm39)	F3250L	probably damaging	Het
Plekha4	C	T	7: 45,193,373 (GRCm39)	R376*	probably null	Het
Pnma8b	A	T	7: 16,679,474 (GRCm39)	S153C	unknown	Het
Rp1l1	C	T	14: 64,259,744 (GRCm39)	R129W	probably damaging	Het
Ryr3	A	G	2: 112,690,108 (GRCm39)	V1147A	probably damaging	Het
Sema3d	G	A	5: 12,620,953 (GRCm39)	V520I	probably benign	Het
Sgsm1	A	G	5: 113,427,136 (GRCm39)		probably benign	Het
Slc13a2	A	G	11: 78,297,694 (GRCm39)	V58A	probably damaging	Het
Slc1a4	A	G	11: 20,254,510 (GRCm39)		probably benign	Het
Slc4a10	G	A	2: 62,074,690 (GRCm39)		probably benign	Het
Tab1	G	T	15: 80,040,094 (GRCm39)	A305S	probably benign	Het
Tmem30a	T	A	9: 79,678,576 (GRCm39)	T327S	probably benign	Het
Tpr	A	C	1: 150,293,164 (GRCm39)	E863A	possibly damaging	Het
Upk3bl	A	G	5: 136,088,969 (GRCm39)	N161D	probably benign	Het
Ush1c	T	A	7: 45,874,979 (GRCm39)	I131F	probably benign	Het
Wdfy4	C	A	14: 32,800,200 (GRCm39)	R1975S	possibly damaging	Het
Zbtb18	C	T	1: 177,275,501 (GRCm39)	A287V	probably benign	Het
Zfp712	T	C	13: 67,189,256 (GRCm39)	T424A	probably benign	Het
Zfp791	G	T	8: 85,838,862 (GRCm39)	Y56*	probably null	Het

Other mutations in Piezo1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00896:Piezo1	APN	8	123,224,609 (GRCm39)	missense	possibly damaging	0.91
IGL01094:Piezo1	APN	8	123,208,877 (GRCm39)	missense	probably damaging	0.99
IGL01321:Piezo1	APN	8	123,214,339 (GRCm39)	missense	probably damaging	0.99
IGL01695:Piezo1	APN	8	123,222,248 (GRCm39)	missense	possibly damaging	0.81
IGL01762:Piezo1	APN	8	123,214,668 (GRCm39)	nonsense	probably null
IGL01922:Piezo1	APN	8	123,219,431 (GRCm39)	missense	probably benign	0.41
IGL01953:Piezo1	APN	8	123,217,923 (GRCm39)	missense	probably damaging	1.00
IGL01997:Piezo1	APN	8	123,215,070 (GRCm39)	splice site	probably benign
IGL02381:Piezo1	APN	8	123,225,283 (GRCm39)	missense	probably benign	0.28
IGL02398:Piezo1	APN	8	123,213,302 (GRCm39)	missense	probably benign	0.21
IGL02562:Piezo1	APN	8	123,223,502 (GRCm39)	missense	probably benign	0.11
IGL02572:Piezo1	APN	8	123,212,044 (GRCm39)	missense	probably benign	0.28
IGL02691:Piezo1	APN	8	123,228,688 (GRCm39)	missense	possibly damaging	0.58
IGL02726:Piezo1	APN	8	123,213,894 (GRCm39)	missense	probably damaging	0.99
IGL02814:Piezo1	APN	8	123,224,954 (GRCm39)	missense	probably damaging	1.00
IGL02931:Piezo1	APN	8	123,210,258 (GRCm39)	missense	probably damaging	1.00
IGL03145:Piezo1	APN	8	123,209,660 (GRCm39)	missense	probably benign	0.14
FR4449:Piezo1	UTSW	8	123,222,308 (GRCm39)	missense	probably damaging	1.00
FR4548:Piezo1	UTSW	8	123,222,308 (GRCm39)	missense	probably damaging	1.00
FR4737:Piezo1	UTSW	8	123,222,308 (GRCm39)	missense	probably damaging	1.00
FR4976:Piezo1	UTSW	8	123,222,308 (GRCm39)	missense	probably damaging	1.00
LCD18:Piezo1	UTSW	8	123,222,308 (GRCm39)	missense	probably damaging	1.00
R0096:Piezo1	UTSW	8	123,212,109 (GRCm39)	unclassified	probably benign
R0970:Piezo1	UTSW	8	123,213,549 (GRCm39)	missense	possibly damaging	0.94
R1364:Piezo1	UTSW	8	123,225,310 (GRCm39)	missense	possibly damaging	0.61
R1460:Piezo1	UTSW	8	123,228,890 (GRCm39)	missense	possibly damaging	0.86
R1485:Piezo1	UTSW	8	123,208,788 (GRCm39)	missense	probably damaging	1.00
R1538:Piezo1	UTSW	8	123,218,142 (GRCm39)	missense	probably damaging	1.00
R1655:Piezo1	UTSW	8	123,223,561 (GRCm39)	missense	probably benign	0.09
R1700:Piezo1	UTSW	8	123,214,241 (GRCm39)	missense	probably damaging	1.00
R1860:Piezo1	UTSW	8	123,222,489 (GRCm39)	missense	possibly damaging	0.90
R1861:Piezo1	UTSW	8	123,222,489 (GRCm39)	missense	possibly damaging	0.90
R1899:Piezo1	UTSW	8	123,216,305 (GRCm39)	missense	probably damaging	1.00
R1899:Piezo1	UTSW	8	123,209,384 (GRCm39)	unclassified	probably benign
R1900:Piezo1	UTSW	8	123,209,384 (GRCm39)	unclassified	probably benign
R2018:Piezo1	UTSW	8	123,209,451 (GRCm39)	missense	probably benign	0.43
R2019:Piezo1	UTSW	8	123,209,451 (GRCm39)	missense	probably benign	0.43
R2219:Piezo1	UTSW	8	123,218,227 (GRCm39)	missense	probably benign	0.01
R2331:Piezo1	UTSW	8	123,214,005 (GRCm39)	splice site	probably null
R3016:Piezo1	UTSW	8	123,232,766 (GRCm39)	critical splice donor site	probably null
R3699:Piezo1	UTSW	8	123,221,642 (GRCm39)	missense	probably damaging	1.00
R3700:Piezo1	UTSW	8	123,221,642 (GRCm39)	missense	probably damaging	1.00
R3746:Piezo1	UTSW	8	123,219,377 (GRCm39)	missense	probably damaging	1.00
R3905:Piezo1	UTSW	8	123,208,882 (GRCm39)	missense	probably damaging	1.00
R4093:Piezo1	UTSW	8	123,227,899 (GRCm39)	critical splice donor site	probably null
R4296:Piezo1	UTSW	8	123,217,866 (GRCm39)	missense	probably damaging	1.00
R4396:Piezo1	UTSW	8	123,225,413 (GRCm39)	missense	probably damaging	0.98
R4467:Piezo1	UTSW	8	123,213,135 (GRCm39)	missense	probably benign	0.17
R4614:Piezo1	UTSW	8	123,213,150 (GRCm39)	missense	probably benign	0.25
R4642:Piezo1	UTSW	8	123,222,193 (GRCm39)	missense	probably damaging	1.00
R4688:Piezo1	UTSW	8	123,215,278 (GRCm39)	missense	probably damaging	1.00
R4734:Piezo1	UTSW	8	123,224,945 (GRCm39)	missense	probably damaging	1.00
R4749:Piezo1	UTSW	8	123,213,678 (GRCm39)	missense	possibly damaging	0.48
R4749:Piezo1	UTSW	8	123,224,945 (GRCm39)	missense	probably damaging	1.00
R4865:Piezo1	UTSW	8	123,213,660 (GRCm39)	missense	probably damaging	1.00
R4869:Piezo1	UTSW	8	123,214,284 (GRCm39)	missense	probably benign
R4962:Piezo1	UTSW	8	123,213,220 (GRCm39)	missense	probably benign	0.41
R5026:Piezo1	UTSW	8	123,213,557 (GRCm39)	missense	probably benign	0.11
R5418:Piezo1	UTSW	8	123,213,519 (GRCm39)	missense	probably damaging	1.00
R5625:Piezo1	UTSW	8	123,209,699 (GRCm39)	missense	probably benign	0.01
R5759:Piezo1	UTSW	8	123,234,394 (GRCm39)	missense	probably damaging	0.98
R5864:Piezo1	UTSW	8	123,213,112 (GRCm39)	missense	possibly damaging	0.75
R5898:Piezo1	UTSW	8	123,214,682 (GRCm39)	missense	probably benign	0.00
R5948:Piezo1	UTSW	8	123,210,086 (GRCm39)	missense	probably benign	0.01
R6052:Piezo1	UTSW	8	123,233,008 (GRCm39)	missense	probably damaging	1.00
R6086:Piezo1	UTSW	8	123,228,396 (GRCm39)	missense	possibly damaging	0.73
R6216:Piezo1	UTSW	8	123,215,869 (GRCm39)	missense	probably benign	0.05
R6271:Piezo1	UTSW	8	123,221,671 (GRCm39)	missense	probably damaging	1.00
R6549:Piezo1	UTSW	8	123,227,002 (GRCm39)	missense
R6723:Piezo1	UTSW	8	123,234,366 (GRCm39)	missense	probably benign	0.15
R6871:Piezo1	UTSW	8	123,211,766 (GRCm39)	splice site	probably null
R6919:Piezo1	UTSW	8	123,217,020 (GRCm39)	missense	probably damaging	1.00
R7085:Piezo1	UTSW	8	123,217,633 (GRCm39)	missense
R7105:Piezo1	UTSW	8	123,208,857 (GRCm39)	missense	unknown
R7267:Piezo1	UTSW	8	123,224,268 (GRCm39)	missense
R7337:Piezo1	UTSW	8	123,212,463 (GRCm39)	missense
R7381:Piezo1	UTSW	8	123,228,397 (GRCm39)	missense
R7480:Piezo1	UTSW	8	123,225,234 (GRCm39)	nonsense	probably null
R7515:Piezo1	UTSW	8	123,212,035 (GRCm39)	missense
R7571:Piezo1	UTSW	8	123,225,157 (GRCm39)	missense
R7601:Piezo1	UTSW	8	123,210,220 (GRCm39)	splice site	probably null
R7827:Piezo1	UTSW	8	123,209,659 (GRCm39)	missense	probably damaging	0.96
R7923:Piezo1	UTSW	8	123,223,183 (GRCm39)	missense
R7975:Piezo1	UTSW	8	123,222,504 (GRCm39)	missense
R8071:Piezo1	UTSW	8	123,213,750 (GRCm39)	missense	probably null
R8231:Piezo1	UTSW	8	123,232,836 (GRCm39)	missense
R8270:Piezo1	UTSW	8	123,228,298 (GRCm39)	missense
R8784:Piezo1	UTSW	8	123,223,328 (GRCm39)	splice site	probably benign
R8788:Piezo1	UTSW	8	123,228,533 (GRCm39)	missense
R8829:Piezo1	UTSW	8	123,217,753 (GRCm39)	missense
R8890:Piezo1	UTSW	8	123,216,330 (GRCm39)	missense
R8950:Piezo1	UTSW	8	123,208,729 (GRCm39)	missense	probably benign	0.01
R8994:Piezo1	UTSW	8	123,209,829 (GRCm39)	missense	unknown
R9036:Piezo1	UTSW	8	123,215,090 (GRCm39)	missense
R9145:Piezo1	UTSW	8	123,208,753 (GRCm39)	missense	unknown
R9146:Piezo1	UTSW	8	123,227,002 (GRCm39)	missense
R9251:Piezo1	UTSW	8	123,219,354 (GRCm39)	missense
R9307:Piezo1	UTSW	8	123,213,832 (GRCm39)	missense
R9375:Piezo1	UTSW	8	123,228,604 (GRCm39)	missense
R9424:Piezo1	UTSW	8	123,218,079 (GRCm39)	missense
R9578:Piezo1	UTSW	8	123,224,214 (GRCm39)	missense
R9722:Piezo1	UTSW	8	123,225,497 (GRCm39)	missense
R9775:Piezo1	UTSW	8	123,208,927 (GRCm39)	missense	probably damaging	0.97

Predicted Primers

PCR Primer
(F):5'- CATGCACGGTGCAGTTGTCAAG -3'
(R):5'- AACATCTGGGCCAGGTAAGGCTTC -3'

Sequencing Primer
(F):5'- GTGAGTGCAGTCCCTAGAATATCC -3'
(R):5'- GGTAAGGCTTCCACACAGC -3'

Posted On

2013-04-11