Mutagenetix > Incidental Mutations

Incidental Mutation 'R5898:Piezo1'

501632

Institutional Source

Beutler Lab

Gene Symbol

Piezo1

Ensembl Gene

ENSMUSG00000014444

Gene Name

piezo-type mechanosensitive ion channel component 1

Synonyms

Fam38a, Piezo1

MMRRC Submission

044097-MU

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R5898 (G1)

Quality Score

223

Status

Validated

Chromosome

Chromosomal Location

122481698-122551329 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 122487943 bp

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 1547 (V1547A)

Ref Sequence

ENSEMBL: ENSMUSP00000089777 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000067252] [ENSMUST00000116412] [ENSMUST00000127664] [ENSMUST00000128383] [ENSMUST00000151855] [ENSMUST00000156333]

Predicted Effect

probably benign
Transcript: ENSMUST00000067252
AA Change: V1547A

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000089777
Gene: ENSMUSG00000014444
AA Change: V1547A

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: ENSMUST00000116412

SMART Domains

Protein: ENSMUSP00000112113
Gene: ENSMUSG00000049482

Domain	Start	End	E-Value	Type
low complexity region	11	24	N/A	INTRINSIC
SCOP:d1sur__	47	153	1e-3	SMART
Pfam:CTU2	347	470	2.3e-21	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000123671

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000126553

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

noncoding transcript
Transcript: ENSMUST00000134304

Predicted Effect

unknown
Transcript: ENSMUST00000148497
AA Change: V897A

SMART Domains

Protein: ENSMUSP00000121725
Gene: ENSMUSG00000014444
AA Change: V897A

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 benign
Transcript: ENSMUST00000151855

SMART Domains

Protein: ENSMUSP00000133622
Gene: ENSMUSG00000049482

Domain	Start	End	E-Value	Type
low complexity region	11	24	N/A	INTRINSIC
SCOP:d1sur__	47	153	9e-4	SMART
Pfam:DUF2392	277	377	1.7e-30	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000152596

Predicted Effect

unknown
Transcript: ENSMUST00000156333
AA Change: V1548A

SMART Domains

Protein: ENSMUSP00000114584
Gene: ENSMUSG00000014444
AA Change: V1548A

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: 99.5%
10x: 97.9%
20x: 93.8%

Validation Efficiency

96% (86/90)

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: 83 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700017N19Rik	G	T	10: 100,612,900	R158L	possibly damaging	Het
1700017N19Rik	G	A	10: 100,615,208	M179I	probably benign	Het
5430419D17Rik	T	G	7: 131,241,967		probably null	Het
Abhd12	T	C	2: 150,839,778	I231V	possibly damaging	Het
Adsl	A	G	15: 80,961,353		probably null	Het
Ahnak	C	A	19: 9,013,767	N4138K	possibly damaging	Het
Ahnak	T	C	19: 9,018,211	S5620P	probably damaging	Het
Akap13	C	T	7: 75,729,146	T2145I	probably damaging	Het
Alpk2	T	A	18: 65,307,623	Q700L	probably damaging	Het
Apobec1	T	C	6: 122,580,773	Y159C	probably damaging	Het
Atg9a	T	C	1: 75,186,272	T395A	probably damaging	Het
Atp6v1f	A	G	6: 29,467,958	I48V	probably benign	Het
BC051665	A	C	13: 60,782,704	V278G	probably damaging	Het
Bicd1	A	T	6: 149,513,703	H638L	probably damaging	Het
Cacna2d4	A	G	6: 119,274,231	Y460C	probably damaging	Het
Ccdc157	C	A	11: 4,144,538	R496L	probably benign	Het
Cep44	C	G	8: 56,541,021	V174L	probably damaging	Het
Clca1	G	T	3: 145,016,761	F283L	possibly damaging	Het
Csk	T	C	9: 57,630,302	T110A	probably benign	Het
Cspg4	T	A	9: 56,885,222		probably null	Het
Cutc	A	G	19: 43,760,029	I124V	probably benign	Het
Cyp2d9	A	G	15: 82,455,524	T104A	probably benign	Het
Cyp2j9	G	T	4: 96,577,714	T294K	probably benign	Het
D630003M21Rik	T	A	2: 158,204,657		probably null	Het
Dcaf15	G	T	8: 84,098,452	F450L	probably damaging	Het
Ddhd1	A	T	14: 45,602,668	I723K	probably damaging	Het
Dnah17	C	T	11: 118,114,213	A782T	probably benign	Het
Dnah3	T	C	7: 120,078,501	D399G	probably benign	Het
Dync2h1	T	C	9: 7,148,717	N909S	probably benign	Het
Erbin	A	G	13: 103,839,305		probably null	Het
Fanci	G	A	7: 79,433,321	V682I	probably benign	Het
Fap	A	T	2: 62,573,503	F9L	probably benign	Het
Fat3	T	C	9: 15,938,461	I3882V	probably benign	Het
Fkbp15	A	T	4: 62,326,057		probably null	Het
Fsd2	T	C	7: 81,537,227	Y601C	probably damaging	Het
Gm5900	T	C	7: 104,950,261		noncoding transcript	Het
Gramd4	G	T	15: 86,100,784	G82V	probably damaging	Het
Hc	C	T	2: 34,997,437	V1352I	probably benign	Het
Hsph1	A	T	5: 149,625,158	N466K	probably damaging	Het
Ice2	T	A	9: 69,408,262	D133E	probably benign	Het
Ifi213	T	C	1: 173,568,979	M510V	probably benign	Het
Itpkb	T	G	1: 180,421,315	L861R	probably damaging	Het
Kbtbd3	T	A	9: 4,330,476	D283E	probably damaging	Het
Man2a1	A	G	17: 64,625,380	K154R	probably benign	Het
Masp1	T	A	16: 23,491,927	I252F	probably damaging	Het
Megf11	G	T	9: 64,685,964	C586F	probably damaging	Het
Myh2	C	A	11: 67,192,719	A1476E	possibly damaging	Het
Myo18b	A	T	5: 112,802,330		probably null	Het
Naip6	A	T	13: 100,299,321	V898E	possibly damaging	Het
Nav1	T	C	1: 135,585,146	M59V	probably benign	Het
Nlrp3	A	T	11: 59,546,852	Y119F	probably benign	Het
Oxa1l	T	A	14: 54,363,301	I77N	possibly damaging	Het
Pcdhb8	T	A	18: 37,357,484	D738E	possibly damaging	Het
Pdia5	A	T	16: 35,422,965	W269R	probably damaging	Het
Peak1	T	A	9: 56,207,338	T1440S	probably benign	Het
Pkp1	T	C	1: 135,882,521	Y437C	probably damaging	Het
Pla2r1	T	C	2: 60,422,760	D1329G	probably damaging	Het
Ppip5k2	T	C	1: 97,744,162		probably benign	Het
Prrg4	C	T	2: 104,845,033	S75N	probably benign	Het
Psmb9	T	A	17: 34,182,292	I198F	probably damaging	Het
Rcbtb2	T	A	14: 73,161,965	L23*	probably null	Het
Sbno1	A	T	5: 124,386,791		probably benign	Het
Scn3a	T	C	2: 65,514,695	E483G	probably damaging	Het
Sdccag8	T	A	1: 176,824,822	D46E	probably benign	Het
Selenov	A	G	7: 28,288,154	F293L	probably damaging	Het
Sept2	A	C	1: 93,479,301	D20A	probably benign	Het
Shc1	T	A	3: 89,426,967	Y313*	probably null	Het
Siglec1	T	A	2: 131,073,633	Y1346F	probably damaging	Het
Slc22a5	T	A	11: 53,873,733	I296F	probably damaging	Het
Slc9c1	A	G	16: 45,544,760	N152S	probably damaging	Het
Smoc1	C	T	12: 81,104,757	R83*	probably null	Het
Ssx2ip	A	G	3: 146,427,831	D227G	possibly damaging	Het
Tbrg4	T	C	11: 6,617,372	D576G	probably damaging	Het
Tbx20	T	A	9: 24,758,859	Y226F	probably damaging	Het
Trav10d	G	T	14: 52,811,472	A107S	probably damaging	Het
Trim60	A	T	8: 65,000,364	L411*	probably null	Het
Ttbk2	A	T	2: 120,745,040	V1083D	probably benign	Het
Unc93a	T	A	17: 13,125,577	Q26L	probably damaging	Het
Usp14	T	A	18: 10,022,819	N65I	possibly damaging	Het
Vip	A	T	10: 5,643,988	S114C	probably damaging	Het
Vmn1r237	A	T	17: 21,314,551	I179F	probably damaging	Het
Wdr47	T	A	3: 108,637,885		probably null	Het
Zfp975	A	T	7: 42,662,539	C217S	probably 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
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
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
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'- AGTACTGTACCCCAATGGCTCC -3'
(R):5'- GTGCATTCACGAAGCACCAC -3'

Sequencing Primer
(F):5'- CTCCAGAGGACACACAGAAATGG -3'
(R):5'- GCACCATGAGCGATGTGC -3'

Posted On

2017-12-01