Incidental Mutation 'R8290:Sh3pxd2a'
ID 638682
Institutional Source Beutler Lab
Gene Symbol Sh3pxd2a
Ensembl Gene ENSMUSG00000053617
Gene Name SH3 and PX domains 2A
Synonyms 2310014D11Rik, Fish, Tks5, Sh3md1
MMRRC Submission 067712-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R8290 (G1)
Quality Score 225.009
Status Not validated
Chromosome 19
Chromosomal Location 47248613-47452840 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 47302575 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Glutamine at position 168 (L168Q)
Ref Sequence ENSEMBL: ENSMUSP00000080325 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000081619] [ENSMUST00000111800]
AlphaFold O89032
Predicted Effect probably damaging
Transcript: ENSMUST00000081619
AA Change: L168Q

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000080325
Gene: ENSMUSG00000053617
AA Change: L168Q

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: L168Q

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000107430
Gene: ENSMUSG00000053617
AA Change: L168Q

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: 99.6%
  • 20x: 98.6%
Validation Efficiency
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: 72 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc12 A T 8: 87,238,911 (GRCm39) Y1100N probably damaging Het
Abcf2 CAT CATAAT 5: 24,781,589 (GRCm39) probably benign Het
Adgrv1 T C 13: 81,630,002 (GRCm39) T3576A probably benign Het
Adnp2 A T 18: 80,185,948 (GRCm39) N8K probably damaging Het
Aftph A T 11: 20,675,712 (GRCm39) H632Q probably benign Het
Arhgef11 A T 3: 87,633,275 (GRCm39) I710F probably damaging Het
Atp6v1c2 T C 12: 17,338,153 (GRCm39) N341S possibly damaging Het
Ccsap T G 8: 124,585,986 (GRCm39) D55A probably benign Het
Cdh17 A G 4: 11,817,037 (GRCm39) N816S probably benign Het
Celf3 A G 3: 94,386,489 (GRCm39) I26V probably benign Het
Celsr1 G T 15: 85,917,286 (GRCm39) S229* probably null Het
Chek2 A G 5: 111,008,766 (GRCm39) E299G possibly damaging Het
Clca3a2 A G 3: 144,793,719 (GRCm39) V312A possibly damaging Het
Cnn1 A G 9: 22,012,447 (GRCm39) K25R probably benign Het
Cry1 A T 10: 84,978,977 (GRCm39) Y516* probably null Het
Dcaf4 T C 12: 83,588,333 (GRCm39) S498P probably benign Het
Dmgdh T C 13: 93,843,244 (GRCm39) V360A probably benign Het
Dnajc18 G A 18: 35,816,324 (GRCm39) R205* probably null Het
Eif4a2 G T 16: 22,927,372 (GRCm39) G22C probably damaging Het
Elmo2 A G 2: 165,150,923 (GRCm39) I196T probably damaging Het
Epha3 A G 16: 63,472,859 (GRCm39) I342T possibly damaging Het
Epha8 G T 4: 136,665,897 (GRCm39) L420M probably damaging Het
Etf1 G A 18: 35,064,891 (GRCm39) P35L unknown Het
Etnk2 A C 1: 133,307,127 (GRCm39) *386C probably null Het
Fgg A T 3: 82,920,141 (GRCm39) I307F probably benign Het
Flg2 A G 3: 93,110,069 (GRCm39) Q699R unknown Het
Foxp4 T A 17: 48,191,778 (GRCm39) T120S unknown Het
Fzd1 A G 5: 4,807,060 (GRCm39) V174A possibly damaging Het
Gad1 A C 2: 70,404,610 (GRCm39) I167L probably benign Het
Gfm2 T A 13: 97,282,171 (GRCm39) D55E probably benign Het
Grb14 G T 2: 64,805,929 (GRCm39) A12E probably benign Het
Hnmt A C 2: 23,893,896 (GRCm39) Y199* probably null Het
Kit A G 5: 75,801,829 (GRCm39) I615V probably benign Het
Kpna6 A G 4: 129,555,097 (GRCm39) probably null Het
Lpxn C T 19: 12,810,052 (GRCm39) R275C probably damaging Het
Magi1 C T 6: 94,260,066 (GRCm39) G80S probably damaging Het
Men1 A G 19: 6,388,316 (GRCm39) I312V probably benign Het
Msx2 A G 13: 53,622,528 (GRCm39) F161L probably damaging Het
Mtr T C 13: 12,205,139 (GRCm39) D1107G probably damaging Het
Muc4 A T 16: 32,575,434 (GRCm39) M1397L probably benign Het
Mybpc3 A G 2: 90,951,473 (GRCm39) N259S probably benign Het
Myo5c A G 9: 75,196,178 (GRCm39) K1242R probably benign Het
Myoc T C 1: 162,476,601 (GRCm39) V435A possibly damaging Het
Nbea G A 3: 55,966,056 (GRCm39) Q469* probably null Het
Ndufa10 A C 1: 92,390,869 (GRCm39) M227R possibly damaging Het
Obscn C T 11: 58,953,536 (GRCm39) D3831N probably damaging Het
Obscn T C 11: 59,015,400 (GRCm39) E1024G probably damaging Het
Oma1 T C 4: 103,176,671 (GRCm39) L145P probably damaging Het
Phf11 T C 14: 59,485,418 (GRCm39) Y114C probably damaging Het
Phf12 C A 11: 77,920,465 (GRCm39) N1000K probably benign Het
Plxnb1 G T 9: 108,938,687 (GRCm39) A1350S probably benign Het
Prkd1 C T 12: 50,388,799 (GRCm39) V915I probably damaging Het
Prkra T A 2: 76,463,982 (GRCm39) N227Y probably damaging Het
Prtg A T 9: 72,798,077 (GRCm39) H681L probably damaging Het
Rtn1 T C 12: 72,355,193 (GRCm39) K251R probably benign Het
Sema6b A T 17: 56,431,803 (GRCm39) V620E possibly damaging Het
Senp7 T A 16: 55,974,000 (GRCm39) L407* probably null Het
Shtn1 A G 19: 58,988,326 (GRCm39) L453P probably damaging Het
Slc26a6 G A 9: 108,733,230 (GRCm39) R43H probably benign Het
Stac3 T C 10: 127,339,229 (GRCm39) probably null Het
Taf2 A G 15: 54,926,416 (GRCm39) F178S probably damaging Het
Tcp10a G A 17: 7,601,716 (GRCm39) E239K probably benign Het
Ubox5 A G 2: 130,442,333 (GRCm39) V118A probably damaging Het
Unc13d C A 11: 115,958,973 (GRCm39) L729F probably damaging Het
Vmn1r228 T C 17: 20,996,724 (GRCm39) T265A probably benign Het
Vmn2r100 G A 17: 19,751,612 (GRCm39) V615I probably damaging Het
Vmn2r60 T G 7: 41,791,690 (GRCm39) C538G probably damaging Het
Vmn2r93 A T 17: 18,524,291 (GRCm39) N95I probably damaging Het
Vsig2 A G 9: 37,451,264 (GRCm39) N55S probably benign Het
Zfp472 A G 17: 33,197,088 (GRCm39) T388A probably benign Het
Zfp853 G A 5: 143,274,826 (GRCm39) Q214* probably null Het
Zfp949 A G 9: 88,451,293 (GRCm39) R288G 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
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
Predicted Primers PCR Primer
(F):5'- ATAACGTATAGCTGCAGAGGTG -3'
(R):5'- CTATATGGCCTGTCCTTGGG -3'

Sequencing Primer
(F):5'- TCGTTCTTCTCGATGACAT -3'
(R):5'- CCTGTCCTTGGGGCCCG -3'
Posted On 2020-07-28