Incidental Mutation 'R0045:Sh3pxd2a'
ID 15420
Institutional Source Beutler Lab
Gene Symbol Sh3pxd2a
Ensembl Gene ENSMUSG00000053617
Gene Name SH3 and PX domains 2A
Synonyms 2310014D11Rik, Fish, Tks5, Sh3md1
MMRRC Submission 038339-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R0045 (G1)
Quality Score
Status Validated
Chromosome 19
Chromosomal Location 47248613-47452840 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 47255622 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Threonine at position 1032 (I1032T)
Ref Sequence ENSEMBL: ENSMUSP00000107430 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000081619] [ENSMUST00000111800]
AlphaFold O89032
Predicted Effect probably damaging
Transcript: ENSMUST00000081619
AA Change: I1060T

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000080325
Gene: ENSMUSG00000053617
AA Change: I1060T

DomainStartEndE-ValueType
PX 3 124 3.6e-32 SMART
SH3 169 224 3.24e-16 SMART
low complexity region 242 254 N/A INTRINSIC
SH3 269 324 6.49e-16 SMART
low complexity region 360 371 N/A INTRINSIC
SH3 450 505 4.49e-10 SMART
low complexity region 519 537 N/A INTRINSIC
low complexity region 632 652 N/A INTRINSIC
low complexity region 654 676 N/A INTRINSIC
low complexity region 685 709 N/A INTRINSIC
SH3 836 891 2.41e-10 SMART
SH3 1066 1124 3.85e-9 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000111800
AA Change: I1032T

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000107430
Gene: ENSMUSG00000053617
AA Change: I1032T

DomainStartEndE-ValueType
PX 3 124 3.6e-32 SMART
SH3 169 224 3.24e-16 SMART
SH3 241 296 6.49e-16 SMART
low complexity region 332 343 N/A INTRINSIC
SH3 422 477 4.49e-10 SMART
low complexity region 491 509 N/A INTRINSIC
low complexity region 604 624 N/A INTRINSIC
low complexity region 626 648 N/A INTRINSIC
low complexity region 657 681 N/A INTRINSIC
SH3 808 863 2.41e-10 SMART
SH3 1038 1096 3.85e-9 SMART
Meta Mutation Damage Score 0.3203 question?
Coding Region Coverage
  • 1x: 81.3%
  • 3x: 72.5%
  • 10x: 50.2%
  • 20x: 29.9%
Validation Efficiency 92% (56/61)
MGI Phenotype PHENOTYPE: Homozygous disruption of this gene results in high neonatal lethality associated with a complete cleft of the secondary palate. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 28 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Agbl1 T C 7: 76,348,588 (GRCm39) probably null Het
Ap3b2 T C 7: 81,115,941 (GRCm39) D650G possibly damaging Het
Arhgap30 A G 1: 171,235,998 (GRCm39) S791G probably benign Het
Ascc3 C T 10: 50,594,498 (GRCm39) R1198* probably null Het
Atf2 G T 2: 73,660,200 (GRCm39) T189N probably benign Het
Atf7ip A G 6: 136,536,814 (GRCm39) K16E probably damaging Het
C8a T C 4: 104,684,012 (GRCm39) K368E probably benign Het
Cdh23 T C 10: 60,366,757 (GRCm39) Y241C probably damaging Het
Cdon G A 9: 35,398,103 (GRCm39) S940N probably benign Het
Cds2 G T 2: 132,147,075 (GRCm39) G402V possibly damaging Het
Cog6 T C 3: 52,900,171 (GRCm39) probably null Het
Dram2 T C 3: 106,478,133 (GRCm39) V155A possibly damaging Het
Exoc3l C T 8: 106,020,317 (GRCm39) V203M probably damaging Het
Fsip1 C A 2: 118,078,773 (GRCm39) probably null Het
Htra1 T A 7: 130,563,262 (GRCm39) S164R probably damaging Het
Kcnq4 T A 4: 120,555,152 (GRCm39) D677V probably damaging Het
Lcn5 T C 2: 25,550,710 (GRCm39) S133P probably damaging Het
Liph T C 16: 21,786,803 (GRCm39) Y271C probably damaging Het
Lpcat3 T C 6: 124,678,437 (GRCm39) I228T probably benign Het
Myl3 A C 9: 110,596,997 (GRCm39) D119A probably damaging Het
Pcsk6 T A 7: 65,612,676 (GRCm39) C315S probably damaging Het
Rapgef4 A G 2: 72,029,122 (GRCm39) H398R possibly damaging Het
Rpgrip1 A T 14: 52,378,601 (GRCm39) T509S possibly damaging Het
Tecta G A 9: 42,286,487 (GRCm39) T723I probably damaging Het
Trpv4 A G 5: 114,774,518 (GRCm39) S189P probably benign Het
Vac14 G A 8: 111,363,584 (GRCm39) D340N probably benign Het
Vars1 A T 17: 35,229,595 (GRCm39) H404L probably damaging Het
Vps13a A T 19: 16,618,174 (GRCm39) L693* probably null Het
Other mutations in Sh3pxd2a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00900:Sh3pxd2a APN 19 47,302,594 (GRCm39) missense probably benign 0.20
IGL01606:Sh3pxd2a APN 19 47,257,035 (GRCm39) missense probably benign
IGL02001:Sh3pxd2a APN 19 47,261,886 (GRCm39) missense probably damaging 0.99
IGL02060:Sh3pxd2a APN 19 47,361,817 (GRCm39) splice site probably benign
IGL02830:Sh3pxd2a APN 19 47,271,517 (GRCm39) missense probably damaging 1.00
IGL03240:Sh3pxd2a APN 19 47,256,465 (GRCm39) missense probably damaging 1.00
IGL03263:Sh3pxd2a APN 19 47,302,482 (GRCm39) missense probably damaging 1.00
IGL03290:Sh3pxd2a APN 19 47,412,955 (GRCm39) missense probably damaging 1.00
R0045:Sh3pxd2a UTSW 19 47,255,622 (GRCm39) missense probably damaging 1.00
R0504:Sh3pxd2a UTSW 19 47,256,186 (GRCm39) missense probably damaging 1.00
R0683:Sh3pxd2a UTSW 19 47,255,950 (GRCm39) missense probably benign 0.04
R0726:Sh3pxd2a UTSW 19 47,257,201 (GRCm39) missense probably damaging 1.00
R0883:Sh3pxd2a UTSW 19 47,256,646 (GRCm39) missense probably damaging 1.00
R1276:Sh3pxd2a UTSW 19 47,256,822 (GRCm39) missense probably benign
R1349:Sh3pxd2a UTSW 19 47,256,160 (GRCm39) missense probably damaging 1.00
R1372:Sh3pxd2a UTSW 19 47,256,160 (GRCm39) missense probably damaging 1.00
R1525:Sh3pxd2a UTSW 19 47,266,864 (GRCm39) missense probably damaging 1.00
R1661:Sh3pxd2a UTSW 19 47,266,759 (GRCm39) missense probably damaging 1.00
R1664:Sh3pxd2a UTSW 19 47,256,821 (GRCm39) missense probably benign 0.02
R1766:Sh3pxd2a UTSW 19 47,261,689 (GRCm39) missense probably benign 0.01
R1931:Sh3pxd2a UTSW 19 47,255,947 (GRCm39) missense probably benign 0.00
R1932:Sh3pxd2a UTSW 19 47,255,947 (GRCm39) missense probably benign 0.00
R2024:Sh3pxd2a UTSW 19 47,255,703 (GRCm39) missense probably benign 0.35
R2165:Sh3pxd2a UTSW 19 47,266,794 (GRCm39) missense probably damaging 1.00
R2210:Sh3pxd2a UTSW 19 47,255,782 (GRCm39) missense possibly damaging 0.93
R2567:Sh3pxd2a UTSW 19 47,413,008 (GRCm39) missense possibly damaging 0.94
R4097:Sh3pxd2a UTSW 19 47,412,951 (GRCm39) missense probably damaging 1.00
R4466:Sh3pxd2a UTSW 19 47,353,146 (GRCm39) missense possibly damaging 0.61
R4788:Sh3pxd2a UTSW 19 47,302,518 (GRCm39) missense probably damaging 1.00
R4885:Sh3pxd2a UTSW 19 47,257,132 (GRCm39) missense probably damaging 1.00
R4939:Sh3pxd2a UTSW 19 47,266,843 (GRCm39) missense probably damaging 1.00
R5184:Sh3pxd2a UTSW 19 47,261,850 (GRCm39) missense possibly damaging 0.90
R5340:Sh3pxd2a UTSW 19 47,256,670 (GRCm39) missense probably benign 0.36
R5673:Sh3pxd2a UTSW 19 47,257,105 (GRCm39) missense probably damaging 1.00
R5925:Sh3pxd2a UTSW 19 47,256,051 (GRCm39) missense probably damaging 1.00
R5988:Sh3pxd2a UTSW 19 47,353,077 (GRCm39) missense probably benign 0.16
R6120:Sh3pxd2a UTSW 19 47,255,848 (GRCm39) missense probably damaging 0.99
R6432:Sh3pxd2a UTSW 19 47,258,366 (GRCm39) missense probably damaging 0.99
R6650:Sh3pxd2a UTSW 19 47,256,663 (GRCm39) missense probably benign 0.00
R6700:Sh3pxd2a UTSW 19 47,353,146 (GRCm39) missense possibly damaging 0.61
R6831:Sh3pxd2a UTSW 19 47,271,532 (GRCm39) missense probably damaging 1.00
R7015:Sh3pxd2a UTSW 19 47,256,562 (GRCm39) missense probably benign 0.00
R7225:Sh3pxd2a UTSW 19 47,255,828 (GRCm39) missense probably damaging 1.00
R7449:Sh3pxd2a UTSW 19 47,256,091 (GRCm39) missense probably benign
R7695:Sh3pxd2a UTSW 19 47,256,270 (GRCm39) missense probably damaging 1.00
R7904:Sh3pxd2a UTSW 19 47,308,753 (GRCm39) missense possibly damaging 0.54
R8143:Sh3pxd2a UTSW 19 47,257,138 (GRCm39) missense probably damaging 1.00
R8268:Sh3pxd2a UTSW 19 47,256,033 (GRCm39) missense probably benign
R8290:Sh3pxd2a UTSW 19 47,302,575 (GRCm39) missense probably damaging 1.00
R8350:Sh3pxd2a UTSW 19 47,258,277 (GRCm39) missense probably null 0.72
R8350:Sh3pxd2a UTSW 19 47,257,146 (GRCm39) missense probably damaging 1.00
R8742:Sh3pxd2a UTSW 19 47,275,073 (GRCm39) missense probably benign 0.01
R8767:Sh3pxd2a UTSW 19 47,257,345 (GRCm39) missense probably damaging 1.00
R8948:Sh3pxd2a UTSW 19 47,361,882 (GRCm39) missense probably damaging 1.00
R9357:Sh3pxd2a UTSW 19 47,260,448 (GRCm39) missense probably damaging 1.00
R9433:Sh3pxd2a UTSW 19 47,255,539 (GRCm39) missense probably damaging 0.98
R9515:Sh3pxd2a UTSW 19 47,255,610 (GRCm39) missense probably damaging 1.00
R9748:Sh3pxd2a UTSW 19 47,257,093 (GRCm39) missense probably benign
V3553:Sh3pxd2a UTSW 19 47,255,658 (GRCm39) missense probably benign 0.12
X0013:Sh3pxd2a UTSW 19 47,256,303 (GRCm39) missense probably benign 0.01
X0026:Sh3pxd2a UTSW 19 47,452,589 (GRCm39) start gained probably benign
Posted On 2012-12-21