Mutagenetix > Incidental Mutation

Incidental Mutation 'R4962:Piezo1'

381844

Institutional Source

Beutler Lab

Gene Symbol

Piezo1

Ensembl Gene

ENSMUSG00000014444

Gene Name

piezo-type mechanosensitive ion channel component 1

Synonyms

Fam38a, Piezo1

MMRRC Submission

042559-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R4962 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

123208437-123278068 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 123213220 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Lysine at position 1848 (E1848K)

Ref Sequence

ENSEMBL: ENSMUSP00000114584 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000067252] [ENSMUST00000116412] [ENSMUST00000127664] [ENSMUST00000128383] [ENSMUST00000156333] [ENSMUST00000151855] [ENSMUST00000136253]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000067252
AA Change: E1847K

PolyPhen 2 Score 0.216 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000089777
Gene: ENSMUSG00000014444
AA Change: E1847K

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: ENSMUST00000131934

Predicted Effect

probably benign
Transcript: ENSMUST00000156333
AA Change: E1848K

PolyPhen 2 Score 0.406 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000114584
Gene: ENSMUSG00000014444
AA Change: E1848K

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000155803

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000154099

Predicted Effect

probably benign
Transcript: ENSMUST00000212499

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000134304

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000152596

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

probably benign
Transcript: ENSMUST00000136253

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

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.7%
20x: 93.6%

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: 92 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4921509C19Rik	A	G	2: 151,314,728 (GRCm39)	F317L	possibly damaging	Het
Abcc4	A	G	14: 118,905,811 (GRCm39)	I85T	probably benign	Het
Acoxl	G	T	2: 127,917,810 (GRCm39)	C498F	probably damaging	Het
Akap13	C	T	7: 75,399,178 (GRCm39)	T2752I	probably damaging	Het
Anks6	C	T	4: 47,030,795 (GRCm39)	G601S	probably damaging	Het
Ap2a2	T	G	7: 141,210,061 (GRCm39)	F836C	probably damaging	Het
Atp2c1	A	G	9: 105,320,149 (GRCm39)	V404A	probably benign	Het
Atp7b	G	T	8: 22,510,901 (GRCm39)	A415E	probably damaging	Het
Babam2	A	T	5: 31,942,927 (GRCm39)	I71L	possibly damaging	Het
Bean1	A	G	8: 104,943,606 (GRCm39)	T54A	probably damaging	Het
Cacna1b	T	A	2: 24,508,330 (GRCm39)	I1816F	probably damaging	Het
Cacna1b	C	T	2: 24,547,378 (GRCm39)	G1202D	probably damaging	Het
Casp8ap2	A	G	4: 32,640,554 (GRCm39)	E536G	probably damaging	Het
Cfap57	A	G	4: 118,470,262 (GRCm39)	V206A	probably benign	Het
Clca3a2	A	T	3: 144,783,640 (GRCm39)	D658E	probably damaging	Het
Cwc22	A	T	2: 77,726,653 (GRCm39)	S809T	probably benign	Het
Cyp2c54	C	T	19: 40,060,585 (GRCm39)	R132Q	possibly damaging	Het
Ddx20	A	T	3: 105,587,921 (GRCm39)	D386E	possibly damaging	Het
Ddx50	T	C	10: 62,478,632 (GRCm39)	T185A	probably damaging	Het
Decr1	G	A	4: 15,930,976 (GRCm39)	R119*	probably null	Het
Dennd4a	T	C	9: 64,813,285 (GRCm39)	S1415P	probably benign	Het
Dnah12	A	T	14: 26,437,855 (GRCm39)	I495L	probably benign	Het
Dnah2	G	A	11: 69,346,799 (GRCm39)	Q2596*	probably null	Het
Dnajb13	A	G	7: 100,156,707 (GRCm39)	L123S	probably benign	Het
Drgx	G	T	14: 32,369,101 (GRCm39)		probably benign	Het
Elavl3	G	A	9: 21,948,107 (GRCm39)	P19L	probably benign	Het
Fer1l6	T	C	15: 58,443,250 (GRCm39)	S518P	probably benign	Het
Fgd3	T	C	13: 49,420,105 (GRCm39)	S591G	probably benign	Het
Galnt18	C	A	7: 111,071,271 (GRCm39)	R566L	probably benign	Het
Galnt6	A	T	15: 100,594,455 (GRCm39)	Y525*	probably null	Het
Gm10036	A	T	18: 15,966,359 (GRCm39)	Y170F	probably benign	Het
Hacd2	A	G	16: 34,842,921 (GRCm39)	D24G	unknown	Het
Idh3a	T	C	9: 54,503,325 (GRCm39)	M128T	possibly damaging	Het
Ido1	C	T	8: 25,074,565 (GRCm39)	M359I	probably benign	Het
Ikbkb	T	C	8: 23,171,693 (GRCm39)	T185A	probably damaging	Het
Insl6	C	T	19: 29,299,019 (GRCm39)	G131D	probably damaging	Het
Irgm1	A	C	11: 48,757,159 (GRCm39)	S217R	possibly damaging	Het
Itga11	T	A	9: 62,668,850 (GRCm39)	Y702*	probably null	Het
Itgb4	C	T	11: 115,874,983 (GRCm39)	R447W	probably benign	Het
Kansl2	T	C	15: 98,429,724 (GRCm39)	M103V	probably benign	Het
Kcnq2	T	C	2: 180,753,836 (GRCm39)	N258S	possibly damaging	Het
Kdm5d	A	T	Y: 940,624 (GRCm39)	D1045V	probably damaging	Het
Lats2	A	G	14: 57,937,049 (GRCm39)	L480P	probably damaging	Het
Lin28b	T	A	10: 45,296,736 (GRCm39)	K87N	possibly damaging	Het
Lpgat1	T	A	1: 191,451,682 (GRCm39)	W103R	probably damaging	Het
Lpl	G	T	8: 69,347,345 (GRCm39)	G166C	probably damaging	Het
Ly75	A	T	2: 60,182,469 (GRCm39)	Y569N	probably damaging	Het
Mcm8	A	T	2: 132,680,689 (GRCm39)	E564D	probably damaging	Het
Me2	G	T	18: 73,918,847 (GRCm39)	N411K	probably damaging	Het
Mn1	A	G	5: 111,602,652 (GRCm39)	T1297A	possibly damaging	Het
Mphosph8	T	A	14: 56,916,046 (GRCm39)	F447L	probably benign	Het
Nacad	T	A	11: 6,549,169 (GRCm39)	D1294V	probably damaging	Het
Neu3	A	T	7: 99,472,615 (GRCm39)	F41I	probably damaging	Het
Nlrp6	G	T	7: 140,503,497 (GRCm39)	L534F	probably damaging	Het
Nrap	A	G	19: 56,366,575 (GRCm39)	M338T	probably damaging	Het
Nuak1	T	C	10: 84,210,979 (GRCm39)	K370E	probably damaging	Het
Or10ab4	T	A	7: 107,654,647 (GRCm39)	C153S	probably benign	Het
Or4d10	T	A	19: 12,051,639 (GRCm39)	D119V	probably damaging	Het
Or5w8	A	G	2: 87,687,632 (GRCm39)	T38A	probably benign	Het
Or6c212	C	T	10: 129,558,592 (GRCm39)	V274M	probably damaging	Het
P3h3	T	C	6: 124,818,736 (GRCm39)	S701G	probably benign	Het
Pdss2	T	C	10: 43,174,908 (GRCm39)	M138T	possibly damaging	Het
Prmt3	T	G	7: 49,476,557 (GRCm39)	S389A	probably benign	Het
Prune2	T	A	19: 17,099,637 (GRCm39)	F1714I	probably benign	Het
Ptgis	A	G	2: 167,067,194 (GRCm39)		probably null	Het
Ptpn20	T	C	14: 33,336,416 (GRCm39)	V85A	probably benign	Het
Rabepk	A	T	2: 34,670,669 (GRCm39)	Y264N	probably damaging	Het
Ralgapa2	A	T	2: 146,276,754 (GRCm39)	C495*	probably null	Het
Satb2	A	G	1: 56,930,327 (GRCm39)	I232T	probably benign	Het
Selenbp2	A	T	3: 94,610,856 (GRCm39)	L307F	probably damaging	Het
Sgpl1	T	G	10: 60,949,863 (GRCm39)	Y112S	probably damaging	Het
Slitrk5	T	C	14: 111,918,679 (GRCm39)	S768P	probably benign	Het
Smc3	T	A	19: 53,619,948 (GRCm39)	Y615N	probably damaging	Het
Spag17	A	G	3: 99,934,939 (GRCm39)	N715S	probably benign	Het
Spats2	A	G	15: 99,110,157 (GRCm39)	E518G	probably benign	Het
Spats2l	A	G	1: 57,924,983 (GRCm39)	H127R	possibly damaging	Het
Tenm3	T	A	8: 48,731,996 (GRCm39)	K1287*	probably null	Het
Thoc1	T	A	18: 9,962,387 (GRCm39)	S91T	probably benign	Het
Thoc6	C	T	17: 23,888,911 (GRCm39)	G166S	probably damaging	Het
Tmem107	C	A	11: 68,962,087 (GRCm39)	T42N	possibly damaging	Het
Tmprss11c	A	G	5: 86,385,569 (GRCm39)	I288T	probably damaging	Het
Tnrc18	A	G	5: 142,725,248 (GRCm39)	F1827S	unknown	Het
Trmt112	C	A	19: 6,887,566 (GRCm39)	T5N	probably damaging	Het
Trp53bp1	A	T	2: 121,101,027 (GRCm39)	M57K	probably benign	Het
Ttbk2	C	A	2: 120,575,631 (GRCm39)	Q1115H	probably damaging	Het
Ttn	C	A	2: 76,559,989 (GRCm39)	E27725*	probably null	Het
Ttn	A	G	2: 76,774,453 (GRCm39)	M2151T	probably damaging	Het
Usp9y	A	T	Y: 1,384,336 (GRCm39)	D727E	probably damaging	Het
Vps13c	A	G	9: 67,781,173 (GRCm39)	T221A	probably damaging	Het
Zbtb20	A	G	16: 43,439,055 (GRCm39)	D725G	probably damaging	Het
Zfp341	A	T	2: 154,468,734 (GRCm39)	I126F	possibly damaging	Het
Zfyve16	C	T	13: 92,650,402 (GRCm39)	A861T	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
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'- AACATGGCAGGGGTCTAGTCTG -3'
(R):5'- GGTCTAAGCATGACCTGACCTG -3'

Sequencing Primer
(F):5'- GGTCTAGTCTGGGCTCTCAC -3'
(R):5'- TGGGTCAGGCTCCTCAC -3'

Posted On

2016-04-27