Incidental Mutation 'R3700:Piezo1'
ID 269960
Institutional Source Beutler Lab
Gene Symbol Piezo1
Ensembl Gene ENSMUSG00000014444
Gene Name piezo-type mechanosensitive ion channel component 1
Synonyms Fam38a, Piezo1
MMRRC Submission 040693-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R3700 (G1)
Quality Score 130
Status Validated
Chromosome 8
Chromosomal Location 123208437-123278068 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 123221642 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Histidine at position 584 (R584H)
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 probably damaging
Transcript: ENSMUST00000067252
AA Change: R1022H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000089777
Gene: ENSMUSG00000014444
AA Change: R1022H

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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: R584H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000116194
Gene: ENSMUSG00000014444
AA Change: R584H

DomainStartEndE-ValueType
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: R372H
SMART Domains Protein: ENSMUSP00000121725
Gene: ENSMUSG00000014444
AA Change: R372H

DomainStartEndE-ValueType
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: R1023H
SMART Domains Protein: ENSMUSP00000114584
Gene: ENSMUSG00000014444
AA Change: R1023H

DomainStartEndE-ValueType
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 0.1790 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.5%
  • 10x: 97.0%
  • 20x: 94.2%
Validation Efficiency 98% (51/52)
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: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Alpk2 G A 18: 65,438,222 (GRCm39) T1524I probably damaging Het
Ankrd29 G A 18: 12,387,757 (GRCm39) A275V possibly damaging Het
Arhgap26 T A 18: 39,253,237 (GRCm39) F221L probably damaging Het
Arhgap28 T C 17: 68,208,361 (GRCm39) S36G probably damaging Het
Bcl11a A G 11: 24,113,890 (GRCm39) D411G probably damaging Het
Cdh23 C A 10: 60,163,149 (GRCm39) probably null Het
Cnnm2 T A 19: 46,750,990 (GRCm39) I260N probably damaging Het
Coro6 T C 11: 77,358,129 (GRCm39) F238S probably damaging Het
Ddah1 G A 3: 145,597,250 (GRCm39) M162I probably benign Het
Dnah5 T C 15: 28,387,937 (GRCm39) I3132T possibly damaging Het
Drgx A T 14: 32,350,818 (GRCm39) E218V probably damaging Het
Dync2i1 C T 12: 116,175,462 (GRCm39) W905* probably null Het
Eif3f A T 7: 108,539,482 (GRCm39) I251F probably benign Het
Ephx4 T C 5: 107,550,673 (GRCm39) F11L probably benign Het
Esp1 T C 17: 41,041,998 (GRCm39) S97P unknown Het
Fbxw10 A T 11: 62,759,983 (GRCm39) probably null Het
Hsp90ab1 T C 17: 45,882,440 (GRCm39) T85A possibly damaging Het
Idh2 T C 7: 79,748,895 (GRCm39) K129E probably damaging Het
Kcnj6 A G 16: 94,633,865 (GRCm39) I64T probably damaging Het
Klk1b5 T A 7: 43,500,251 (GRCm39) C280S probably damaging Het
Lhx2 T A 2: 38,250,111 (GRCm39) L269H probably damaging Het
Lrrc71 T A 3: 87,653,185 (GRCm39) probably null Het
Lss T A 10: 76,382,026 (GRCm39) L484Q probably damaging Het
Mmp14 G A 14: 54,669,389 (GRCm39) probably benign Het
Muc5b A G 7: 141,400,986 (GRCm39) T534A unknown Het
Mysm1 T C 4: 94,858,889 (GRCm39) K87E probably benign Het
Or6d13 T A 6: 116,517,489 (GRCm39) V25E probably benign Het
Or6f2 C G 7: 139,756,127 (GRCm39) F37L possibly damaging Het
Pcolce T C 5: 137,607,309 (GRCm39) T61A probably damaging Het
Phc3 C A 3: 30,968,277 (GRCm39) D920Y probably damaging Het
Pi4kb T C 3: 94,901,599 (GRCm39) I422T probably benign Het
Plce1 T A 19: 38,693,781 (GRCm39) F768Y probably damaging Het
Ppp1r21 T C 17: 88,889,882 (GRCm39) S709P possibly damaging Het
Prdx6 T C 1: 161,074,858 (GRCm39) D74G probably damaging Het
Rlf A G 4: 121,008,060 (GRCm39) F307L possibly damaging Het
Skic2 T C 17: 35,068,879 (GRCm39) E40G probably benign Het
Snapin G A 3: 90,397,499 (GRCm39) R91* probably null Het
Sort1 T A 3: 108,263,955 (GRCm39) L838* probably null Het
Sstr4 A G 2: 148,238,273 (GRCm39) I295V possibly damaging Het
Stk39 T A 2: 68,222,462 (GRCm39) I201F probably damaging Het
Tasp1 T C 2: 139,752,474 (GRCm39) T322A probably benign Het
Tepsin C T 11: 119,982,579 (GRCm39) C491Y possibly damaging Het
Tlr9 G A 9: 106,101,278 (GRCm39) V190M probably damaging Het
Ttf2 A G 3: 100,858,324 (GRCm39) L755P probably damaging Het
Txn2 G A 15: 77,811,976 (GRCm39) T60M possibly damaging Het
Vmn1r10 A G 6: 57,091,287 (GRCm39) N293S probably benign Het
Vmn1r232 A G 17: 21,134,465 (GRCm39) L45P probably benign Het
Vmn2r111 C T 17: 22,790,142 (GRCm39) W288* probably null Het
Vmn2r118 T C 17: 55,915,421 (GRCm39) S510G possibly damaging Het
Zgpat T A 2: 181,007,439 (GRCm39) probably benign Het
Zzef1 G T 11: 72,777,598 (GRCm39) G1810C probably null Het
Other mutations in Piezo1
AlleleSourceChrCoordTypePredicted EffectPPH 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
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'- CCTTGGCAGGAATGTAGGTG -3'
(R):5'- TGAGTCACTCTAGACCTCAGG -3'

Sequencing Primer
(F):5'- CTGTGTAAGTCAGGAAGGTGAAC -3'
(R):5'- TCACTCTAGACCTCAGGGCAGG -3'
Posted On 2015-03-18