Mutagenetix > Incidental Mutations

Incidental Mutation 'R1655:Piezo1'

189034

Institutional Source

Beutler Lab

Gene Symbol

Piezo1

Ensembl Gene

ENSMUSG00000014444

Gene Name

piezo-type mechanosensitive ion channel component 1

Synonyms

Fam38a, Piezo1

MMRRC Submission

039691-MU

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R1655 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

122481698-122551329 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 122496822 bp

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 796 (I796T)

Ref Sequence

ENSEMBL: ENSMUSP00000089777 (fasta)

Gene Model

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

Predicted Effect

probably benign
Transcript: ENSMUST00000067252
AA Change: I796T

PolyPhen 2 Score 0.089 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000089777
Gene: ENSMUSG00000014444
AA Change: I796T

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
AA Change: I358T

PolyPhen 2 Score 0.052 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000116194
Gene: ENSMUSG00000014444
AA Change: I358T

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

unknown
Transcript: ENSMUST00000148497
AA Change: I143T

SMART Domains

Protein: ENSMUSP00000121725
Gene: ENSMUSG00000014444
AA Change: I143T

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

unknown
Transcript: ENSMUST00000156333
AA Change: I797T

SMART Domains

Protein: ENSMUSP00000114584
Gene: ENSMUSG00000014444
AA Change: I797T

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: 99.1%
3x: 98.3%
10x: 96.0%
20x: 91.3%

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: 73 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4833427G06Rik	A	T	9: 51,083,621	I136N	probably damaging	Het
9530053A07Rik	A	T	7: 28,147,110	N1076Y	probably damaging	Het
A730061H03Rik	A	T	14: 55,560,333		probably benign	Het
Abca1	C	T	4: 53,050,964	A1582T	probably benign	Het
Acot8	A	T	2: 164,803,108	S52T	probably benign	Het
Atcay	C	T	10: 81,213,397	V124M	probably damaging	Het
Cep295	C	T	9: 15,340,883	E397K	probably damaging	Het
Cfap46	A	T	7: 139,642,520	Y1180*	probably null	Het
Clptm1	T	A	7: 19,645,867	H148L	probably benign	Het
Clstn3	A	G	6: 124,437,427	L743P	probably damaging	Het
Crtc3	A	T	7: 80,598,776	M313K	possibly damaging	Het
Csgalnact1	T	A	8: 68,373,689	I326F	possibly damaging	Het
Dennd6b	G	T	15: 89,196,340	T19K	unknown	Het
Disp1	A	T	1: 183,087,004	I1284N	probably benign	Het
Dnah2	A	G	11: 69,473,854	Y1992H	probably damaging	Het
Dnah6	C	T	6: 73,205,732	V205I	possibly damaging	Het
Dst	G	T	1: 34,282,576	G4391*	probably null	Het
Dytn	A	G	1: 63,661,198	S258P	probably damaging	Het
Emilin3	T	A	2: 160,910,866		probably null	Het
Ermn	C	T	2: 58,052,584	V45I	probably benign	Het
Fat4	T	C	3: 38,957,318	V2189A	probably damaging	Het
Filip1l	T	C	16: 57,571,851	I934T	probably damaging	Het
Gbp9	T	A	5: 105,081,692	Q472L	possibly damaging	Het
Gimap5	G	T	6: 48,753,176	E227*	probably null	Het
Gsdmc	C	T	15: 63,780,043	V240M	probably benign	Het
H2-Q4	G	T	17: 35,382,905	V248F	probably damaging	Het
Helz2	T	C	2: 181,234,147	E1518G	probably damaging	Het
Hmcn1	A	G	1: 150,630,333	V3814A	probably benign	Het
Ifna7	A	G	4: 88,816,660	T145A	probably benign	Het
Itgam	T	A	7: 128,115,163	M947K	probably benign	Het
Itpr2	T	G	6: 146,376,148	N608H	probably damaging	Het
Klra2	T	A	6: 131,220,211	N242I	probably damaging	Het
Lonrf2	A	T	1: 38,811,824	L219Q	probably damaging	Het
Ly6c2	T	C	15: 75,108,563	I126V	probably benign	Het
Mr1	G	A	1: 155,132,455	T258M	probably benign	Het
Mrps35	T	G	6: 147,060,228	D200E	possibly damaging	Het
Nbeal2	A	C	9: 110,632,872	S1506A	probably damaging	Het
Ncoa7	T	C	10: 30,698,245		probably null	Het
Nlrp4a	A	T	7: 26,449,651	I228F	possibly damaging	Het
Olfr1047	A	G	2: 86,228,080	V297A	possibly damaging	Het
Olfr1339	A	G	4: 118,734,999	S157G	probably benign	Het
Olfr368	A	G	2: 37,331,939	Y64C	probably damaging	Het
Olfr483	A	T	7: 108,103,464	I52F	probably damaging	Het
Paxx	T	C	2: 25,460,316	E93G	probably damaging	Het
Per2	C	A	1: 91,448,768	G128W	probably damaging	Het
Pkhd1	A	G	1: 20,584,129	S235P	probably damaging	Het
Pole	T	A	5: 110,335,922	F259Y	probably damaging	Het
Pus7	T	A	5: 23,747,800	K512*	probably null	Het
Ralyl	A	T	3: 14,107,236	Y55F	probably damaging	Het
Rgs14	T	A	13: 55,383,534	M451K	probably benign	Het
Rhag	T	C	17: 40,831,596	F231L	probably damaging	Het
Ric8a	T	C	7: 140,860,895	C94R	probably benign	Het
Rictor	T	A	15: 6,772,212	D460E	probably benign	Het
Rpn1	T	C	6: 88,100,944	V454A	possibly damaging	Het
Sacs	A	G	14: 61,191,782	D427G	probably benign	Het
Scai	A	T	2: 39,080,117	V545D	possibly damaging	Het
Serpinb3a	A	G	1: 107,046,212	V323A	probably damaging	Het
Slc13a5	C	A	11: 72,257,378	C277F	probably benign	Het
Slc15a1	A	T	14: 121,465,899	Y557N	probably benign	Het
Slc34a2	T	C	5: 53,069,419	V628A	probably benign	Het
Slc8a2	G	T	7: 16,141,135	G436V	probably damaging	Het
Sphkap	G	A	1: 83,277,515	R838*	probably null	Het
Supt5	T	C	7: 28,330,024	I103V	probably benign	Het
Tdrd1	T	A	19: 56,843,216	Y346*	probably null	Het
Tg	T	G	15: 66,828,568		probably null	Het
Top1	T	A	2: 160,703,696		probably null	Het
Trmt12	T	C	15: 58,873,227	L158P	probably damaging	Het
Tssk4	A	G	14: 55,651,695	N226S	probably damaging	Het
Unc80	G	T	1: 66,672,756	V2746F	possibly damaging	Het
Usp34	T	A	11: 23,375,051	V999E	probably benign	Het
Virma	T	C	4: 11,494,786	V29A	probably damaging	Het
Zfp40	A	T	17: 23,177,266	Y48N	probably benign	Het
Zfp609	A	G	9: 65,703,554	V709A	possibly damaging	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
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
R4734:Piezo1	UTSW	8	122498206	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	probably benign	0.02
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

Predicted Primers

PCR Primer
(F):5'- AGACTCCAGGACGACTGCCGTAACC -3'
(R):5'- GAATCTGTGCCCAGTTCTGCCACC -3'

Sequencing Primer
(F):5'- TGCCGTAACCGAGCAGG -3'
(R):5'- GCCCACTCCATCCTGAGC -3'

Posted On

2014-05-09