Incidental Mutation 'R8350:Sh3pxd2a'
ID 660255
Institutional Source Beutler Lab
Gene Symbol Sh3pxd2a
Ensembl Gene ENSMUSG00000053617
Gene Name SH3 and PX domains 2A
Synonyms 2310014D11Rik, Fish, Tks5, Sh3md1
MMRRC Submission 067868-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R8350 (G1)
Quality Score 225.009
Status Validated
Chromosome 19
Chromosomal Location 47248613-47452840 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 47258277 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Aspartic acid at position 475 (E475D)
Ref Sequence ENSEMBL: ENSMUSP00000080325 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000081619] [ENSMUST00000111800]
AlphaFold O89032
Predicted Effect probably null
Transcript: ENSMUST00000081619
AA Change: E475D

PolyPhen 2 Score 0.721 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000080325
Gene: ENSMUSG00000053617
AA Change: E475D

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 null
Transcript: ENSMUST00000111800
AA Change: E447D

PolyPhen 2 Score 0.024 (Sensitivity: 0.95; Specificity: 0.81)
SMART Domains Protein: ENSMUSP00000107430
Gene: ENSMUSG00000053617
AA Change: E447D

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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.5%
  • 20x: 98.4%
Validation Efficiency 100% (59/59)
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: 59 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb4 G T 5: 8,978,578 (GRCm39) probably null Het
Adam29 A G 8: 56,325,224 (GRCm39) V410A possibly damaging Het
Adamts3 T C 5: 89,850,815 (GRCm39) T575A probably damaging Het
Ankmy1 T C 1: 92,804,353 (GRCm39) K877E possibly damaging Het
Arpin A T 7: 79,581,615 (GRCm39) I35N possibly damaging Het
BC030500 T C 8: 59,365,388 (GRCm39) I13T unknown Het
Bcas1 T C 2: 170,248,220 (GRCm39) N234D possibly damaging Het
Clca3a2 C T 3: 144,783,668 (GRCm39) G649E probably benign Het
Cnot2 A T 10: 116,322,181 (GRCm39) L516Q probably damaging Het
Ctdp1 C A 18: 80,512,494 (GRCm39) V90L probably benign Het
Cyb5b A G 8: 107,896,552 (GRCm39) Y91C possibly damaging Het
Cystm1 T C 18: 36,526,303 (GRCm39) probably benign Het
Dnhd1 C A 7: 105,327,231 (GRCm39) Q727K probably damaging Het
Dpf3 G A 12: 83,397,625 (GRCm39) R80C probably damaging Het
Ehmt2 C T 17: 35,127,667 (GRCm39) T882M probably damaging Het
Fam136a A G 6: 86,345,795 (GRCm39) K104R probably benign Het
Fcgbp T C 7: 27,793,614 (GRCm39) V1172A probably benign Het
Foxc1 C T 13: 31,991,548 (GRCm39) Q120* probably null Het
Grin1 G A 2: 25,188,323 (GRCm39) R448C probably damaging Het
Igsf10 G A 3: 59,238,949 (GRCm39) P411S probably damaging Het
Irgq T A 7: 24,233,165 (GRCm39) D335E probably benign Het
Kndc1 A G 7: 139,503,960 (GRCm39) Y1088C probably damaging Het
Llgl1 A G 11: 60,602,947 (GRCm39) E874G probably damaging Het
Lrp8 A G 4: 107,704,661 (GRCm39) N168D probably benign Het
Lyst T A 13: 13,824,973 (GRCm39) C1529* probably null Het
Mau2 A T 8: 70,495,242 (GRCm39) Y32N probably damaging Het
Mios T A 6: 8,227,998 (GRCm39) N638K probably benign Het
Mki67 A T 7: 135,300,200 (GRCm39) D1611E possibly damaging Het
Mroh2a G A 1: 88,171,805 (GRCm39) probably null Het
Nek5 A G 8: 22,603,688 (GRCm39) V138A probably damaging Het
Opcml A T 9: 28,813,463 (GRCm39) E251D probably benign Het
Or13c7e-ps1 T A 4: 43,782,175 (GRCm39) I52F probably benign Het
Or1j14 T A 2: 36,418,176 (GRCm39) Y251N probably damaging Het
Or1o1 A T 17: 37,717,260 (GRCm39) M274L probably benign Het
Pde1b A T 15: 103,411,901 (GRCm39) M1L probably benign Het
Pias1 G A 9: 62,859,266 (GRCm39) H72Y probably damaging Het
Postn G A 3: 54,277,679 (GRCm39) V225I probably damaging Het
Prickle2 A G 6: 92,353,483 (GRCm39) V661A probably benign Het
Ptpn1 T A 2: 167,816,161 (GRCm39) F225Y probably damaging Het
Ptprd C T 4: 75,868,898 (GRCm39) V1425M probably damaging Het
Rbfox1 C A 16: 7,094,954 (GRCm39) S111R probably benign Het
Rbm24 T C 13: 46,572,676 (GRCm39) probably null Het
Rlf T G 4: 121,027,954 (GRCm39) K224T probably damaging Het
Scgb2b3 G A 7: 31,061,485 (GRCm39) L5F probably damaging Het
Sdr42e2 T C 7: 120,419,873 (GRCm39) L206P probably damaging Het
Serpinb9g A G 13: 33,676,854 (GRCm39) E212G probably damaging Het
Skil A G 3: 31,151,603 (GRCm39) T42A probably benign Het
Sorcs2 A G 5: 36,311,207 (GRCm39) V203A probably damaging Het
Sugp2 C T 8: 70,695,641 (GRCm39) R205* probably null Het
Tle1 C A 4: 72,057,203 (GRCm39) probably benign Het
Tmem63c T A 12: 87,119,660 (GRCm39) L318Q probably damaging Het
Txnrd1 A G 10: 82,717,759 (GRCm39) I248V probably benign Het
Vmn2r79 T A 7: 86,686,741 (GRCm39) C707* probably null Het
Xdh C T 17: 74,241,837 (GRCm39) G154D probably damaging Het
Xirp2 T A 2: 67,355,713 (GRCm39) D3491E probably benign Het
Yjefn3 A G 8: 70,341,869 (GRCm39) L77P probably damaging Het
Zer1 C T 2: 29,991,862 (GRCm39) E653K probably damaging Het
Zfyve27 T C 19: 42,167,911 (GRCm39) V151A probably benign Het
Zim1 T A 7: 6,685,064 (GRCm39) S129C probably damaging 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
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 47,257,146 (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
Predicted Primers PCR Primer
(F):5'- TCATTGTGGGACAAGCAAGTG -3'
(R):5'- ACTAGTGTTATGTGAGCCCTGG -3'

Sequencing Primer
(F):5'- TGAGTGAGGGACAGAAACTCAAGTTG -3'
(R):5'- TATGTGAGCCCTGGGTGCC -3'
Posted On 2021-01-18