Incidental Mutation 'R9722:Piezo1'
ID 730856
Institutional Source Beutler Lab
Gene Symbol Piezo1
Ensembl Gene ENSMUSG00000014444
Gene Name piezo-type mechanosensitive ion channel component 1
Synonyms Fam38a, Piezo1
MMRRC Submission
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R9722 (G1)
Quality Score 225.009
Status Not validated
Chromosome 8
Chromosomal Location 123208437-123278068 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to C at 123225497 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Arginine at position 530 (L530R)
Ref Sequence ENSEMBL: ENSMUSP00000114584 (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: L529R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000089777
Gene: ENSMUSG00000014444
AA Change: L529R

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: L91R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000116194
Gene: ENSMUSG00000014444
AA Change: L91R

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 probably benign
Transcript: ENSMUST00000148497
SMART Domains Protein: ENSMUSP00000121725
Gene: ENSMUSG00000014444

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
SMART Domains Protein: ENSMUSP00000114584
Gene: ENSMUSG00000014444
AA Change: L530R

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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.2%
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: 59 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9330159F19Rik A T 10: 29,094,269 (GRCm39) I52F probably benign Het
Abcc3 A T 11: 94,250,072 (GRCm39) L1017Q probably damaging Het
Antxr2 T C 5: 98,096,186 (GRCm39) D366G possibly damaging Het
Astn2 C T 4: 65,831,978 (GRCm39) V563I probably benign Het
Atrn C A 2: 130,803,536 (GRCm39) D575E probably damaging Het
Baz1a C T 12: 54,946,882 (GRCm39) D1228N probably benign Het
Canx A G 11: 50,195,301 (GRCm39) S256P probably benign Het
Ccnt2 T A 1: 127,729,925 (GRCm39) D267E probably damaging Het
Cd209c G T 8: 3,995,905 (GRCm39) R2S probably benign Het
Cyfip2 T C 11: 46,087,135 (GRCm39) T1252A probably benign Het
Dchs2 A G 3: 83,261,301 (GRCm39) Y2523C probably benign Het
Dmxl2 G A 9: 54,323,892 (GRCm39) P990L probably benign Het
Dnajc9 T C 14: 20,438,279 (GRCm39) I108V probably benign Het
Eif2d T C 1: 131,092,948 (GRCm39) probably null Het
Ephb2 T C 4: 136,384,768 (GRCm39) D881G probably damaging Het
Esr1 A G 10: 4,951,215 (GRCm39) N531S probably benign Het
Fbxo2 G A 4: 148,248,883 (GRCm39) R125H probably damaging Het
Foxred1 C T 9: 35,117,300 (GRCm39) S277N possibly damaging Het
Gemin5 T C 11: 58,041,418 (GRCm39) E518G probably damaging Het
Gm17655 A G 5: 110,194,226 (GRCm39) Y519H probably benign Het
Igkv4-57-1 A T 6: 69,521,493 (GRCm39) W70R probably damaging Het
Krtap4-13 A G 11: 99,700,180 (GRCm39) S160P unknown Het
Map3k3 A G 11: 106,033,361 (GRCm39) I205V possibly damaging Het
Map3k4 A C 17: 12,490,523 (GRCm39) F303V probably benign Het
Mpdz T C 4: 81,304,504 (GRCm39) Q132R probably damaging Het
Myo10 T A 15: 25,801,227 (GRCm39) V1472E probably damaging Het
Nckap1 G A 2: 80,401,568 (GRCm39) Q39* probably null Het
Nog A G 11: 89,192,396 (GRCm39) S151P probably damaging Het
Obox6 G A 7: 15,568,831 (GRCm39) S15F probably benign Het
Odf2 A G 2: 29,813,594 (GRCm39) H647R possibly damaging Het
Or6c74 A G 10: 129,869,500 (GRCm39) R2G probably benign Het
Pcdhga11 T C 18: 37,890,398 (GRCm39) S469P possibly damaging Het
Pcnx4 T C 12: 72,603,039 (GRCm39) Y434H probably damaging Het
Pfpl G C 19: 12,406,297 (GRCm39) E183Q probably damaging Het
Pglyrp3 A G 3: 91,938,695 (GRCm39) K290R possibly damaging Het
Phactr3 G A 2: 177,898,043 (GRCm39) E86K probably damaging Het
Pigg A T 5: 108,495,767 (GRCm39) I935F possibly damaging Het
Pofut2 T C 10: 77,102,759 (GRCm39) S282P possibly damaging Het
Ppfia1 A G 7: 144,071,402 (GRCm39) S337P probably benign Het
Sdr16c5 A T 4: 4,005,595 (GRCm39) D246E probably benign Het
Sgsm1 T A 5: 113,428,207 (GRCm39) H327L possibly damaging Het
Slc39a4 A G 15: 76,500,211 (GRCm39) I113T possibly damaging Het
Slc5a7 A G 17: 54,603,985 (GRCm39) probably null Het
Snx11 A G 11: 96,661,925 (GRCm39) S86P probably benign Het
Srm T A 4: 148,676,245 (GRCm39) probably null Het
Tas2r126 T C 6: 42,412,082 (GRCm39) I205T possibly damaging Het
Tek T G 4: 94,692,539 (GRCm39) W216G possibly damaging Het
Tenm3 A T 8: 48,753,849 (GRCm39) S851R probably benign Het
Tnip2 A G 5: 34,654,212 (GRCm39) V288A probably benign Het
Tpx2 T A 2: 152,733,476 (GRCm39) probably null Het
Trim33 C A 3: 103,261,146 (GRCm39) T1115K possibly damaging Het
Tspan13 T A 12: 36,074,017 (GRCm39) I40F probably damaging Het
Ube2v2 T C 16: 15,394,899 (GRCm39) I91V probably benign Het
Vmn1r22 A T 6: 57,877,631 (GRCm39) F115L probably benign Het
Vmn2r7 G A 3: 64,598,407 (GRCm39) P717S probably damaging Het
Zan T C 5: 137,387,324 (GRCm39) T4910A unknown Het
Zfp599 T A 9: 22,160,741 (GRCm39) T475S probably damaging Het
Zfp638 T A 6: 83,923,301 (GRCm39) F700I probably damaging Het
Zfp985 A C 4: 147,667,618 (GRCm39) K162T possibly damaging 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
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
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
R9775:Piezo1 UTSW 8 123,208,927 (GRCm39) missense probably damaging 0.97
Predicted Primers PCR Primer
(F):5'- TTGACGTAGATGCCGGTGAC -3'
(R):5'- GTGTCTCTGAGGCTTTCACG -3'

Sequencing Primer
(F):5'- TAGATGCCGGTGACCAGCTC -3'
(R):5'- ACGTACGTCCGTGAATCTGTGAC -3'
Posted On 2022-10-06