Incidental Mutation 'R5340:Sh3pxd2a'
ID 422301
Institutional Source Beutler Lab
Gene Symbol Sh3pxd2a
Ensembl Gene ENSMUSG00000053617
Gene Name SH3 and PX domains 2A
Synonyms 2310014D11Rik, Fish, Tks5, Sh3md1
MMRRC Submission 042919-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R5340 (G1)
Quality Score 225
Status Not validated
Chromosome 19
Chromosomal Location 47248613-47452840 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 47256670 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Aspartic acid at position 683 (N683D)
Ref Sequence ENSEMBL: ENSMUSP00000107430 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000081619] [ENSMUST00000111800]
AlphaFold O89032
Predicted Effect probably benign
Transcript: ENSMUST00000081619
AA Change: N711D

PolyPhen 2 Score 0.044 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000080325
Gene: ENSMUSG00000053617
AA Change: N711D

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: N683D

PolyPhen 2 Score 0.360 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000107430
Gene: ENSMUSG00000053617
AA Change: N683D

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: 99.4%
  • 3x: 98.8%
  • 10x: 97.7%
  • 20x: 96.3%
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: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aqp7 T C 4: 41,034,347 (GRCm39) R271G probably benign Het
Atp4a A G 7: 30,420,231 (GRCm39) I793V probably benign Het
Baz2a C T 10: 127,950,911 (GRCm39) R535C probably damaging Het
BC034090 T C 1: 155,102,160 (GRCm39) T35A possibly damaging Het
Bnip1 T C 17: 27,005,764 (GRCm39) probably null Het
Ccdc136 A G 6: 29,411,859 (GRCm39) S369G possibly damaging Het
Csrnp3 A G 2: 65,852,781 (GRCm39) D391G probably benign Het
Ctbp2 G T 7: 132,615,692 (GRCm39) H414Q probably benign Het
Dnah6 A G 6: 73,189,603 (GRCm39) I15T probably benign Het
Dync2li1 A G 17: 84,957,130 (GRCm39) probably null Het
Eri3 A T 4: 117,530,991 (GRCm39) I329F probably damaging Het
Flii T A 11: 60,608,094 (GRCm39) I786F probably damaging Het
Fmo1 A T 1: 162,657,551 (GRCm39) I530N probably benign Het
Gm28042 T C 2: 119,871,929 (GRCm39) S960P probably benign Het
Gzmm C A 10: 79,530,907 (GRCm39) F236L probably benign Het
H2bl1 C T 13: 99,120,951 (GRCm39) R25H possibly damaging Het
Igkv4-55 A G 6: 69,584,489 (GRCm39) V41A probably damaging Het
Ipo9 A G 1: 135,313,170 (GRCm39) Y1020H probably benign Het
Masp1 T C 16: 23,276,858 (GRCm39) Y549C probably damaging Het
Mblac1 A T 5: 138,192,840 (GRCm39) S61C probably damaging Het
Mical1 T A 10: 41,359,427 (GRCm39) probably null Het
Mroh9 C T 1: 162,908,156 (GRCm39) probably benign Het
Mta2 T C 19: 8,919,720 (GRCm39) M1T probably null Het
Neb A G 2: 52,113,060 (GRCm39) Y4245H probably damaging Het
Or11j4 T C 14: 50,630,677 (GRCm39) F155L probably damaging Het
Or4c52 T C 2: 89,845,706 (GRCm39) V144A probably benign Het
Otulinl T C 15: 27,658,175 (GRCm39) M282V possibly damaging Het
Pak2 G T 16: 31,853,764 (GRCm39) probably null Het
Phc3 A T 3: 30,961,616 (GRCm39) F939I probably damaging Het
Prss3l T C 6: 41,422,307 (GRCm39) N33D probably benign Het
Rogdi C A 16: 4,831,225 (GRCm39) R14L probably benign Het
Ryr3 T C 2: 112,664,470 (GRCm39) Y1627C probably damaging Het
Scrn3 A T 2: 73,166,154 (GRCm39) K396* probably null Het
Smtnl1 T A 2: 84,645,785 (GRCm39) H362L probably damaging Het
Sned1 A G 1: 93,210,479 (GRCm39) S927G probably benign Het
Tcaf1 A G 6: 42,655,923 (GRCm39) V351A probably damaging Het
Tmem232 C T 17: 65,709,993 (GRCm39) V432M possibly damaging Het
Ttll11 G T 2: 35,792,801 (GRCm39) H347Q probably damaging Het
Vmn2r56 A C 7: 12,449,799 (GRCm39) D146E probably damaging Het
Wwp1 A G 4: 19,638,773 (GRCm39) probably null Het
Zcchc7 T A 4: 44,762,245 (GRCm39) N124K probably benign Het
Zfp667 A G 7: 6,308,252 (GRCm39) T307A possibly damaging Het
Zfp709 T A 8: 72,643,596 (GRCm39) C342S probably damaging Het
Zfp940 A G 7: 29,544,266 (GRCm39) V547A 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
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
Predicted Primers PCR Primer
(F):5'- TCACTCCTAGAGCCCTTGAG -3'
(R):5'- TGAGAATGAGGGCTTCAGGC -3'

Sequencing Primer
(F):5'- AGGAACTAATATCCATCTTCTCCTGG -3'
(R):5'- TGTCCCTTGCCGTGAAAAAC -3'
Posted On 2016-08-04