Mutagenetix > Incidental Mutation

Incidental Mutation 'R8231:Piezo1'

637147

Institutional Source

Beutler Lab

Gene Symbol

Piezo1

Ensembl Gene

ENSMUSG00000014444

Gene Name

piezo-type mechanosensitive ion channel component 1

Synonyms

Fam38a, Piezo1

MMRRC Submission

067663-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R8231 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

123208437-123278068 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 123232836 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 133 (S133P)

Ref Sequence

ENSEMBL: ENSMUSP00000114584 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

possibly damaging
Transcript: ENSMUST00000067252
AA Change: S133P

PolyPhen 2 Score 0.905 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000089777
Gene: ENSMUSG00000014444
AA Change: S133P

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

SMART Domains

Protein: ENSMUSP00000114584
Gene: ENSMUSG00000014444
AA Change: S133P

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: 99.9%
3x: 99.8%
10x: 99.4%
20x: 98.4%

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: 39 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcg8	C	T	17: 85,000,213 (GRCm39)	R258C	probably damaging	Het
Acsf2	C	G	11: 94,452,188 (GRCm39)	E451D	probably benign	Het
Adam34	A	T	8: 44,104,659 (GRCm39)	S329T	probably benign	Het
Adamts16	A	G	13: 70,925,599 (GRCm39)	I535T	probably damaging	Het
Atp6v0d2	A	G	4: 19,881,451 (GRCm39)	F214S	probably damaging	Het
Btg4	A	G	9: 51,027,868 (GRCm39)	T13A	possibly damaging	Het
Ccdc121	T	A	5: 31,643,551 (GRCm39)	C94S	probably benign	Het
Cplane1	T	C	15: 8,248,511 (GRCm39)	Y1687H	probably benign	Het
Csmd1	A	T	8: 16,747,939 (GRCm39)	S271T	possibly damaging	Het
Cul9	T	C	17: 46,831,427 (GRCm39)	T1596A	probably damaging	Het
Cyp2a4	G	A	7: 26,012,362 (GRCm39)	D382N	probably benign	Het
Dbh	C	T	2: 27,060,555 (GRCm39)	R244C	probably benign	Het
Dennd11	A	T	6: 40,395,546 (GRCm39)	H187Q	probably benign	Het
Dnajc2	T	C	5: 21,966,689 (GRCm39)	K426R	probably benign	Het
Dock4	T	A	12: 40,752,950 (GRCm39)	M428K	possibly damaging	Het
Duox2	A	T	2: 122,120,044 (GRCm39)	M822K	possibly damaging	Het
Golga5	T	C	12: 102,438,558 (GRCm39)	V91A	probably benign	Het
Gpatch2l	T	C	12: 86,290,963 (GRCm39)	S49P	probably damaging	Het
Ints7	T	A	1: 191,328,465 (GRCm39)	L246*	probably null	Het
Kntc1	A	G	5: 123,920,959 (GRCm39)	T926A	possibly damaging	Het
Kyat1	T	C	2: 30,081,978 (GRCm39)	T54A	probably benign	Het
Megf6	C	G	4: 154,336,975 (GRCm39)	C359W	probably damaging	Het
Mlh3	A	G	12: 85,307,572 (GRCm39)		probably null	Het
Neb	C	A	2: 52,125,491 (GRCm39)		probably null	Het
Nyap2	A	T	1: 81,169,846 (GRCm39)	Q201L	probably benign	Het
Pibf1	T	G	14: 99,423,997 (GRCm39)	H523Q	probably benign	Het
Pnma8b	T	C	7: 16,680,515 (GRCm39)	C500R	probably benign	Het
Ptpra	A	G	2: 130,379,523 (GRCm39)	N359S	probably damaging	Het
Rce1	A	T	19: 4,675,078 (GRCm39)	I112N	probably damaging	Het
Rmdn1	T	C	4: 19,586,853 (GRCm39)	Y104H	probably benign	Het
Snx22	A	T	9: 65,975,480 (GRCm39)	D96E	probably benign	Het
Sox5	G	T	6: 143,974,014 (GRCm39)	Q245K	probably damaging	Het
Stat6	A	G	10: 127,482,842 (GRCm39)	D21G	possibly damaging	Het
Tbc1d15	T	C	10: 115,065,045 (GRCm39)	Y180C	probably damaging	Het
Tdrd6	T	C	17: 43,933,026 (GRCm39)	T2058A	probably damaging	Het
Thbs4	A	T	13: 92,911,352 (GRCm39)	V277E	probably benign	Het
Tmem255b	A	G	8: 13,504,225 (GRCm39)	D139G	probably damaging	Het
Ttc27	C	A	17: 75,024,959 (GRCm39)	T18K	probably benign	Het
Zfp131	A	G	13: 120,237,348 (GRCm39)	F337L	probably damaging	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
R0085:Piezo1	UTSW	8	123,228,354 (GRCm39)	missense	probably damaging	0.98
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	123,224,945 (GRCm39)	missense	probably damaging	1.00
R4749:Piezo1	UTSW	8	123,213,678 (GRCm39)	missense	possibly damaging	0.48
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
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'- ACGCAGAGAAACCCTGTCTC -3'
(R):5'- GGTAAGATCTGCGTTCCCTC -3'

Sequencing Primer
(F):5'- GAGAAACCCTGTCTCAAGCAAATC -3'
(R):5'- CCACCCCCTCTGTGAGC -3'

Posted On

2020-07-13