Mutagenetix > Incidental Mutation

Incidental Mutation 'LCD18:Piezo1'

478045

Institutional Source

Beutler Lab

Gene Symbol

Piezo1

Ensembl Gene

ENSMUSG00000014444

Gene Name

piezo-type mechanosensitive ion channel component 1

Synonyms

Fam38a, Piezo1

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

LCD18 (G1)

Quality Score

999

Status

Validated

Chromosome

Chromosomal Location

123208437-123278068 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 123222308 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Tryptophan at position 503 (R503W)

Ref Sequence

ENSEMBL: ENSMUSP00000116194 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

possibly damaging
Transcript: ENSMUST00000067252
AA Change: R941W

PolyPhen 2 Score 0.585 (Sensitivity: 0.88; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000089777
Gene: ENSMUSG00000014444
AA Change: R941W

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: R503W

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

SMART Domains

Protein: ENSMUSP00000116194
Gene: ENSMUSG00000014444
AA Change: R503W

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: R288W

SMART Domains

Protein: ENSMUSP00000121725
Gene: ENSMUSG00000014444
AA Change: R288W

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: R942W

SMART Domains

Protein: ENSMUSP00000114584
Gene: ENSMUSG00000014444
AA Change: R942W

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

0.2651

Coding Region Coverage

1x: 0.0%
3x: 0.0%
10x: 0.0%
20x: 0.0%

Validation Efficiency

88% (169/191)

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: 113 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A330008L17Rik	A	G	8: 100,450,057 (GRCm39)		noncoding transcript	Het
Aff2	C	A	X: 68,791,141 (GRCm39)		probably benign	Het
Aldh1a1	C	A	19: 20,604,010 (GRCm39)		probably benign	Het
Anxa7	C	T	14: 20,519,479 (GRCm39)	G113E	probably damaging	Het
Apba2	A	T	7: 64,271,908 (GRCm39)		probably benign	Het
Apc2	G	C	10: 80,135,808 (GRCm39)		probably benign	Het
App	C	G	16: 84,822,300 (GRCm39)		probably benign	Het
Asic2	C	A	11: 80,876,570 (GRCm39)		probably benign	Het
Btk	T	C	X: 133,479,574 (GRCm39)		probably benign	Het
Car12	C	A	9: 66,668,958 (GRCm39)		probably benign	Het
Ccdc121	GAGAAG	GAG	5: 31,644,717 (GRCm39)		probably benign	Het
Ccdc191	G	A	16: 43,742,164 (GRCm39)		probably benign	Het
Ccdc34	N		2: 110,016,318 (GRCm38)		probably benign	Het
Cd164	G	T	10: 41,397,922 (GRCm39)	A59S	probably benign	Het
Cd22	C	T	7: 30,577,507 (GRCm39)	R2H	possibly damaging	Het
Cdv3	C	A	9: 103,242,553 (GRCm39)		probably benign	Het
Cdv3	A	T	9: 103,242,542 (GRCm39)		probably benign	Het
Celf2	N		2: 6,779,076 (GRCm38)		probably benign	Het
Cfap299	G	A	5: 98,855,367 (GRCm39)		probably benign	Het
Clec18a	C	A	8: 111,802,768 (GRCm39)		probably benign	Het
Cnpy3	GGATGGAT	GGATAGATAGATAGATAGATGGAT	17: 47,048,462 (GRCm39)		probably benign	Het
Cntn4	A	G	6: 106,530,901 (GRCm39)		probably benign	Het
Cntnap5c	G	C	17: 58,469,155 (GRCm39)		probably benign	Het
Col2a1	C	A	15: 97,886,862 (GRCm39)		probably null	Het
Cpne3	G	T	4: 19,563,382 (GRCm39)		probably benign	Het
Cracd	GGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG	GGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG	5: 76,806,589 (GRCm39)		probably benign	Het
Dab1	T	G	4: 103,903,769 (GRCm39)		probably benign	Het
Dapp1	G	A	3: 137,645,161 (GRCm39)		probably benign	Het
Dcc	G	A	18: 72,430,518 (GRCm39)		probably benign	Het
Dcun1d1	GAAAAAAAAA	GAAAAAAAAAA	3: 35,992,154 (GRCm39)		probably benign	Het
Dennd1b	G	A	1: 139,042,502 (GRCm39)		probably benign	Het
Dhdds	TAA	TA	4: 133,697,674 (GRCm39)		probably benign	Het
Dnah12	G	T	14: 26,571,342 (GRCm39)	G2817V	probably damaging	Het
Dnm3	CATATATATATATATATATATATA	CATATATATATATATATATATA	1: 162,234,130 (GRCm39)		probably benign	Het
Dock10	N		1: 80,716,623 (GRCm38)		probably benign	Het
Dusp10	G	T	1: 183,769,253 (GRCm39)	C73F	probably damaging	Het
Fgf20	A	C	8: 40,745,359 (GRCm39)		probably benign	Het
Ftsj3	G	T	11: 106,140,885 (GRCm39)		probably benign	Het
Gls	T	G	1: 52,222,526 (GRCm39)		probably benign	Het
Gm12130	T	C	11: 38,397,750 (GRCm39)		noncoding transcript	Het
Gm14936	G	A	X: 111,908,447 (GRCm39)		noncoding transcript	Het
Gm16630	C	T	6: 48,118,203 (GRCm39)		noncoding transcript	Het
Gm22194	AGTGTGTGTGTGTGTGTGTGTGTGTGTGTG	AGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG	10: 11,816,707 (GRCm39)		noncoding transcript	Het
Gm26917	C	G	17: 40,154,862 (GRCm39)		noncoding transcript	Het
Gm35048	GACACACACACACACACACACACACACACACACACACAC	GACACACACACACACACACACACACACACACACACAC	1: 90,449,248 (GRCm39)		noncoding transcript	Het
Gm37311	G	A	16: 77,415,169 (GRCm39)		noncoding transcript	Het
Gm37928	AACACACACACACACACACACACACACACACACA	AACACACACACACACACACACACACACACACACACA	3: 118,328,206 (GRCm39)		noncoding transcript	Het
Gm4302	T	C	10: 100,177,306 (GRCm39)	W197R	probably benign	Het
H2-Q4	G	A	17: 35,599,381 (GRCm39)	D155N	probably damaging	Het
H2-T23	T	C	17: 36,342,108 (GRCm39)		probably benign	Het
Hgs	CTTTTTTT	CTTTTTT	11: 120,360,404 (GRCm39)		probably benign	Het
Ighv5-9	C	T	12: 113,625,497 (GRCm39)	S82N	probably benign	Het
Il1rap	C	A	16: 26,450,343 (GRCm39)		probably benign	Het
Inhbc	N		10: 127,367,140 (GRCm38)		probably benign	Het
Inpp4b	C	T	8: 82,419,639 (GRCm39)		probably benign	Het
Kars1	N		8: 111,993,708 (GRCm38)		probably benign	Het
Kcng4	G	T	8: 120,360,258 (GRCm39)	Y39*	probably null	Het
Kcnh7	A	G	2: 62,880,143 (GRCm39)		probably benign	Het
Klhl1	G	C	14: 96,555,166 (GRCm39)		probably benign	Het
Lrch1	C	T	14: 75,142,461 (GRCm39)		probably benign	Het
Lrp1b	G	C	2: 42,127,574 (GRCm39)		probably benign	Het
Lsm8	G	A	6: 18,844,315 (GRCm39)		probably benign	Het
Lsm8	G	A	6: 18,854,320 (GRCm39)		probably benign	Het
Magi2	T	C	5: 20,159,509 (GRCm39)		probably benign	Het
Matcap2	N		9: 22,442,083 (GRCm38)		probably benign	Het
Mef2c	G	A	13: 83,753,942 (GRCm39)		probably benign	Het
Mei4	A	G	9: 82,069,012 (GRCm39)		probably benign	Het
Mid1	T	A	X: 168,788,560 (GRCm39)		probably benign	Het
Mndal	G	C	1: 173,707,784 (GRCm39)		probably benign	Het
Mpped2	C	A	2: 106,551,773 (GRCm39)		probably benign	Het
Mtarc2	TAGGCAGCCAATCAGAGCACTGCCTCTCAGCGCCAGGCAGCCAATCAGAGCACTGCCTCTCAGCGCCAGGCA	TAGGCAGCCAATCAGAGCACTGCCTCTCAGCGCCAGGCA	1: 184,554,985 (GRCm39)		probably benign	Het
Mtf1	A	G	4: 124,723,109 (GRCm39)		probably benign	Het
Mxd1	T	C	6: 86,644,388 (GRCm39)		probably benign	Het
Nbea	G	T	3: 55,608,948 (GRCm39)		probably benign	Het
Ncor1	N		11: 62,419,782 (GRCm38)		probably benign	Het
Nox4	A	G	7: 86,892,275 (GRCm39)		probably benign	Het
Ocln	C	T	13: 100,657,075 (GRCm39)		probably benign	Het
Ofcc1	G	A	13: 40,246,443 (GRCm39)		probably benign	Het
Or5af2	T	A	11: 58,708,266 (GRCm39)	V144D	possibly damaging	Het
Paics	N		5: 76,956,744 (GRCm38)		probably null	Het
Paqr8	G	T	1: 20,984,882 (GRCm39)		probably benign	Het
Pate9	T	C	9: 36,444,849 (GRCm39)		probably benign	Het
Pdss1	C	T	2: 22,790,980 (GRCm39)		probably benign	Het
Pkhd1	G	A	1: 20,681,638 (GRCm39)		probably benign	Het
Ppp1r3f	C	A	X: 7,426,575 (GRCm39)	G562V	probably damaging	Het
Prr16	C	T	18: 51,333,396 (GRCm39)		probably benign	Het
Prss38	T	G	11: 59,266,467 (GRCm39)		probably benign	Het
Prxl2c	G	A	13: 64,435,099 (GRCm39)		probably benign	Het
Ptprk	T	C	10: 28,450,983 (GRCm39)		probably benign	Het
Pum1	N		4: 130,730,549 (GRCm38)		probably benign	Het
Rabgef1	N		5: 130,187,586 (GRCm38)		probably null	Het
Rgs16	G	A	1: 153,619,976 (GRCm39)		probably benign	Het
Riok3	G	T	18: 12,263,039 (GRCm39)		probably benign	Het
Rn18s-rs5	T	C	17: 40,159,446 (GRCm39)		noncoding transcript	Het
Robo2	N		16: 74,055,954 (GRCm38)		probably benign	Het
Rps6ka3	A	G	X: 158,062,211 (GRCm39)		probably benign	Het
Rptn	T	A	3: 93,304,848 (GRCm39)	L727Q	probably benign	Het
Slc25a46	C	A	18: 31,730,366 (GRCm39)		probably benign	Het
Spata31f1e	T	C	4: 42,792,885 (GRCm39)	T416A	probably benign	Het
Spsb1	C	T	4: 150,036,943 (GRCm39)		probably benign	Het
Tbc1d19	A	C	5: 53,974,051 (GRCm39)		probably benign	Het
Trav7-4	C	T	14: 53,698,975 (GRCm39)	L41F	probably benign	Het
Trip12	N		1: 84,754,482 (GRCm38)		probably benign	Het
Ttc13	G	A	8: 125,402,605 (GRCm39)		probably benign	Het
Ttll6	C	T	11: 96,046,084 (GRCm39)		probably benign	Het
Unc5b	C	G	10: 60,621,950 (GRCm39)		probably benign	Het
Vmn2r87	C	T	10: 130,314,583 (GRCm39)	M334I	probably benign	Het
Vps13b	G	T	15: 35,847,103 (GRCm39)	A2629S	probably damaging	Het
Wars2	N		3: 99,214,774 (GRCm38)		probably null	Het
Zdhhc3	AACACACACACACACACACACACACACACACAC	AACACACACACACACACACACACACACACACACAC	9: 122,912,087 (GRCm39)		probably benign	Het
Zfp26	C	A	9: 20,349,842 (GRCm39)	A241S	probably benign	Het
Zfp442	C	T	2: 150,261,768 (GRCm39)		probably benign	Het
Zfp808	C	T	13: 62,314,465 (GRCm39)		probably benign	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
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	123,213,678 (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'- CATCACTAGAGATGCTCAGGGG -3'
(R):5'- AACTTGGGCTATATCCAGGTG -3'

Sequencing Primer
(F):5'- CTGCTATCATTCCTGCCAAAAGGATG -3'
(R):5'- CTATATCCAGGTGAGTGGGGAC -3'

Posted On

2017-05-17