Incidental Mutation 'R8742:Sh3pxd2a'
ID 686541
Institutional Source Beutler Lab
Gene Symbol Sh3pxd2a
Ensembl Gene ENSMUSG00000053617
Gene Name SH3 and PX domains 2A
Synonyms 2310014D11Rik, Fish, Tks5, Sh3md1
MMRRC Submission 068587-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R8742 (G1)
Quality Score 46.0072
Status Validated
Chromosome 19
Chromosomal Location 47248613-47452840 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 47275073 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Leucine at position 230 (S230L)
Ref Sequence ENSEMBL: ENSMUSP00000080325 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000081619] [ENSMUST00000111800]
AlphaFold O89032
Predicted Effect probably benign
Transcript: ENSMUST00000081619
AA Change: S230L

PolyPhen 2 Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)
SMART Domains Protein: ENSMUSP00000080325
Gene: ENSMUSG00000053617
AA Change: S230L

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 benign
Transcript: ENSMUST00000111800
AA Change: S230L

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000107430
Gene: ENSMUSG00000053617
AA Change: S230L

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 0.0846 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.3%
  • 20x: 97.0%
Validation Efficiency 100% (55/55)
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: 58 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrb3 T C 1: 25,265,835 (GRCm39) I893V probably benign Het
Adhfe1 A G 1: 9,630,401 (GRCm39) I317V probably benign Het
Adnp2 A G 18: 80,171,556 (GRCm39) V951A probably damaging Het
Ankrd35 T A 3: 96,586,502 (GRCm39) H59Q probably damaging Het
Atg16l1 C T 1: 87,694,620 (GRCm39) T161I probably damaging Het
Axl A G 7: 25,463,861 (GRCm39) V591A probably damaging Het
Cdc40 C T 10: 40,717,480 (GRCm39) D404N probably damaging Het
Cdcp3 A G 7: 130,783,741 (GRCm39) I45V unknown Het
Ceacam13 T A 7: 17,743,934 (GRCm39) S14T probably damaging Het
Cfh A T 1: 140,029,390 (GRCm39) F986L probably damaging Het
Cfh G T 1: 140,064,469 (GRCm39) T393K probably damaging Het
Clic1 A G 17: 35,274,356 (GRCm39) N179S probably benign Het
Col6a3 C G 1: 90,695,328 (GRCm39) probably benign Het
Dlat G T 9: 50,560,967 (GRCm39) A360E probably damaging Het
Dst T A 1: 34,251,425 (GRCm39) D2159E probably benign Het
Epn3 T G 11: 94,386,921 (GRCm39) T150P probably damaging Het
Fgr T C 4: 132,724,828 (GRCm39) Y310H probably damaging Het
Filip1l A G 16: 57,391,593 (GRCm39) Y727C probably damaging Het
Fis1 G T 5: 136,982,365 (GRCm39) probably benign Het
G530012D18Rik C G 1: 85,504,935 (GRCm39) D113E unknown Het
Gdf10 A T 14: 33,654,426 (GRCm39) H311L probably benign Het
Gphn C T 12: 78,659,766 (GRCm39) R423C probably damaging Het
Gpr132 T C 12: 112,819,517 (GRCm39) probably benign Het
Herc2 C A 7: 55,744,143 (GRCm39) T406K probably benign Het
Hpf1 T C 8: 61,346,748 (GRCm39) V21A probably benign Het
Ifitm6 A G 7: 140,596,008 (GRCm39) I75T probably benign Het
Itgax A T 7: 127,743,795 (GRCm39) H852L probably benign Het
Klhl3 T C 13: 58,159,021 (GRCm39) Y546C probably damaging Het
Lbr A G 1: 181,644,571 (GRCm39) L578P possibly damaging Het
Ltbp1 A G 17: 75,617,217 (GRCm39) Y734C probably damaging Het
Mapre2 C A 18: 24,016,688 (GRCm39) H281N probably benign Het
Mcm4 T C 16: 15,443,430 (GRCm39) D831G possibly damaging Het
Mlf1 G A 3: 67,305,119 (GRCm39) A207T probably damaging Het
Mslnl A T 17: 25,964,047 (GRCm39) I459F probably damaging Het
Mtnr1a A G 8: 45,540,720 (GRCm39) D227G probably benign Het
Ncapg T A 5: 45,851,216 (GRCm39) L803Q probably damaging Het
Nr3c2 T G 8: 77,635,210 (GRCm39) S104A probably damaging Het
Or4k52 A G 2: 111,610,910 (GRCm39) I82V probably benign Het
Pard3 C T 8: 128,050,592 (GRCm39) A218V possibly damaging Het
Poteg A T 8: 27,984,957 (GRCm39) N439Y possibly damaging Het
Pramel34 T A 5: 93,785,935 (GRCm39) D115V probably damaging Het
Ret A T 6: 118,155,484 (GRCm39) L404Q probably damaging Het
Ripk4 A T 16: 97,556,272 (GRCm39) V157D probably damaging Het
Rsf1 CGGCGGCGGCGGCGGCGGCGGC CGGCGGCGGCGGCGGCGGCGGCGGCGGCGGC 7: 97,229,121 (GRCm39) probably benign Het
Serinc1 A T 10: 57,395,895 (GRCm39) N298K probably benign Het
Shb G C 4: 45,458,319 (GRCm39) R282G probably benign Het
Skint11 T C 4: 114,051,922 (GRCm39) I90T probably damaging Het
Slc36a4 A G 9: 15,632,039 (GRCm39) T72A probably damaging Het
Slc38a9 T A 13: 112,865,818 (GRCm39) I505K probably damaging Het
Sprr3 C T 3: 92,364,307 (GRCm39) R179H possibly damaging Het
Syne1 A T 10: 5,058,661 (GRCm39) I7284N probably benign Het
Timeless A T 10: 128,083,107 (GRCm39) T648S probably benign Het
Trim44 A G 2: 102,230,521 (GRCm39) M170T possibly damaging Het
Trpm7 A G 2: 126,667,469 (GRCm39) F815L probably damaging Het
Uimc1 A G 13: 55,240,971 (GRCm39) L39S possibly damaging Het
Vmn2r13 T C 5: 109,304,263 (GRCm39) T723A probably benign Het
Vps11 A G 9: 44,267,070 (GRCm39) probably benign Het
Zp3r A T 1: 130,511,230 (GRCm39) C383S 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 47,258,277 (GRCm39) missense probably null 0.72
R8350:Sh3pxd2a UTSW 19 47,257,146 (GRCm39) missense probably damaging 1.00
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'- GTGAGTGAATCGCAAACCCAAC -3'
(R):5'- GGCATTTCCCAGGTTTTCTG -3'

Sequencing Primer
(F):5'- AACCCACTCTAGTAGCTGAGGTG -3'
(R):5'- TCTGGGTCAGTGCCTTGCC -3'
Posted On 2021-10-20