Incidental Mutation 'R8268:Sh3pxd2a'
ID 639562
Institutional Source Beutler Lab
Gene Symbol Sh3pxd2a
Ensembl Gene ENSMUSG00000053617
Gene Name SH3 and PX domains 2A
Synonyms 2310014D11Rik, Fish, Tks5, Sh3md1
MMRRC Submission 067692-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R8268 (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 T at 47256033 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Histidine at position 923 (R923H)
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: R923H

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000080325
Gene: ENSMUSG00000053617
AA Change: R923H

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: R895H

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000107430
Gene: ENSMUSG00000053617
AA Change: R895H

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: 99.7%
  • 20x: 99.2%
Validation Efficiency 97% (37/38)
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: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abhd8 A T 8: 71,909,961 (GRCm39) C396S probably benign Het
Ccpg1 G A 9: 72,913,001 (GRCm39) R179H probably damaging Het
Ciapin1 A G 8: 95,558,511 (GRCm39) V67A probably benign Het
Col7a1 A G 9: 108,802,057 (GRCm39) R2018G unknown Het
Dnah11 A T 12: 117,991,243 (GRCm39) Y2374* probably null Het
Dnah7b G T 1: 46,395,736 (GRCm39) M3879I probably benign Het
Epha8 G T 4: 136,665,897 (GRCm39) L420M probably damaging Het
Gm12258 A C 11: 58,745,084 (GRCm39) probably null Het
Hpse A G 5: 100,846,907 (GRCm39) L174S probably damaging Het
Hspa8 A G 9: 40,714,448 (GRCm39) K248R probably damaging Het
Kcnt2 A C 1: 140,450,954 (GRCm39) R744S probably damaging Het
Klhl32 G A 4: 24,800,843 (GRCm39) probably benign Het
Mkrn3 A G 7: 62,068,270 (GRCm39) L507P probably damaging Het
Myom2 T G 8: 15,179,157 (GRCm39) F1330V probably damaging Het
Nr1d2 A G 14: 18,216,659 (GRCm38) S170P probably damaging Het
Nt5dc1 T C 10: 34,186,407 (GRCm39) D388G probably damaging Het
Or12e9 C A 2: 87,202,332 (GRCm39) A152E probably damaging Het
Or13a17 A G 7: 140,271,430 (GRCm39) D204G probably damaging Het
Or4a68 T C 2: 89,269,780 (GRCm39) N281S probably damaging Het
Or7a36 T A 10: 78,819,831 (GRCm39) V69E probably damaging Het
Pigg T A 5: 108,486,509 (GRCm39) S721T probably damaging Het
Prr5 T C 15: 84,587,192 (GRCm39) L323P probably benign Het
Rapgef2 T A 3: 78,993,263 (GRCm39) I742L probably benign Het
Rxrb A G 17: 34,254,750 (GRCm39) S302G probably benign Het
Setd5 T G 6: 113,126,651 (GRCm39) probably null Het
Sh3bgr A G 16: 96,025,674 (GRCm39) T187A unknown Het
Slc26a10 A G 10: 127,009,491 (GRCm39) probably null Het
Slc9a1 T A 4: 133,097,934 (GRCm39) V27E probably benign Het
Stard3nl A G 13: 19,560,629 (GRCm39) S49P probably damaging Het
Stxbp2 G A 8: 3,682,234 (GRCm39) V17I Het
Themis3 C T 17: 66,862,786 (GRCm39) E391K probably benign Het
Tia1 A G 6: 86,404,996 (GRCm39) probably benign Het
Tmem167 T C 13: 90,252,554 (GRCm39) F70S probably damaging Het
Trpm6 C A 19: 18,851,225 (GRCm39) Q1729K possibly damaging Het
Tsc2 A C 17: 24,818,984 (GRCm39) L1285W probably benign Het
Uchl4 A T 9: 64,142,791 (GRCm39) I91F probably damaging Het
Wdfy3 C T 5: 102,089,476 (GRCm39) A573T probably damaging Het
Zc2hc1c C T 12: 85,336,595 (GRCm39) S84F probably benign Het
Zfp143 A G 7: 109,690,991 (GRCm39) D515G probably benign 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
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
Predicted Primers PCR Primer
(F):5'- CGGTGCTAAAGGAGGAGTTC -3'
(R):5'- TATCAGAAGGTCCAGGACTCG -3'

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