Incidental Mutation 'R4097:Sh3pxd2a'
ID 317192
Institutional Source Beutler Lab
Gene Symbol Sh3pxd2a
Ensembl Gene ENSMUSG00000053617
Gene Name SH3 and PX domains 2A
Synonyms 2310014D11Rik, Fish, Tks5, Sh3md1
MMRRC Submission 040984-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R4097 (G1)
Quality Score 225
Status Validated
Chromosome 19
Chromosomal Location 47248613-47452840 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 47412951 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Cysteine at position 44 (Y44C)
Ref Sequence ENSEMBL: ENSMUSP00000107430 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000081619] [ENSMUST00000111800]
AlphaFold O89032
Predicted Effect probably damaging
Transcript: ENSMUST00000081619
AA Change: Y44C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000080325
Gene: ENSMUSG00000053617
AA Change: Y44C

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: Y44C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000107430
Gene: ENSMUSG00000053617
AA Change: Y44C

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 0.9633 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.7%
  • 10x: 97.5%
  • 20x: 96.1%
Validation Efficiency 100% (48/48)
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: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aldh1l2 A G 10: 83,348,228 (GRCm39) F292L probably damaging Het
Ankrd36 A G 11: 5,578,703 (GRCm39) D664G possibly damaging Het
Bbs1 T A 19: 4,947,345 (GRCm39) Y358F probably damaging Het
Becn1 C T 11: 101,185,092 (GRCm39) probably benign Het
Cenpp A T 13: 49,647,265 (GRCm39) N47I possibly damaging Het
Clec4n A T 6: 123,207,700 (GRCm39) H55L possibly damaging Het
Cntnap4 A G 8: 113,478,939 (GRCm39) I222V probably benign Het
Cttnbp2 T C 6: 18,420,871 (GRCm39) E370G probably benign Het
Cyp4a10 T A 4: 115,386,480 (GRCm39) V413E probably damaging Het
Dctn2 C T 10: 127,113,362 (GRCm39) L249F probably damaging Het
Dnah9 T C 11: 65,881,285 (GRCm39) S146G probably damaging Het
Dzip3 A T 16: 48,778,852 (GRCm39) L315* probably null Het
Evpl T C 11: 116,114,003 (GRCm39) E1229G possibly damaging Het
Ice2 T C 9: 69,328,953 (GRCm39) V775A possibly damaging Het
Jmjd1c A G 10: 67,054,787 (GRCm39) E69G probably benign Het
Lrrc66 T A 5: 73,765,047 (GRCm39) R665S possibly damaging Het
Mpdz T A 4: 81,253,937 (GRCm39) H1065L probably damaging Het
Nrf1 C T 6: 30,151,671 (GRCm39) Q503* probably null Het
Nt5dc3 G A 10: 86,669,820 (GRCm39) A472T probably benign Het
Oprk1 T A 1: 5,673,034 (GRCm39) probably benign Het
Or7g17 T C 9: 18,767,933 (GRCm39) I4T probably benign Het
Or9g3 T C 2: 85,590,040 (GRCm39) I227V possibly damaging Het
Pramel6 T G 2: 87,339,697 (GRCm39) F154V probably benign Het
Ralb T C 1: 119,411,228 (GRCm39) D37G probably benign Het
Ranbp9 A T 13: 43,574,733 (GRCm39) Y412N probably damaging Het
Scg2 T A 1: 79,413,538 (GRCm39) D395V probably damaging Het
Secisbp2l C T 2: 125,582,657 (GRCm39) G933D possibly damaging Het
Serpine3 T A 14: 62,908,395 (GRCm39) L141Q probably damaging Het
Sgpl1 C T 10: 60,939,017 (GRCm39) G394D probably damaging Het
Slc6a20b A G 9: 123,441,822 (GRCm39) probably benign Het
Snapc5 T C 9: 64,087,809 (GRCm39) I40T probably damaging Het
Spopl T C 2: 23,401,413 (GRCm39) H365R probably benign Het
Stil T A 4: 114,880,797 (GRCm39) I447N probably benign Het
Taf3 C A 2: 9,957,178 (GRCm39) V330F possibly damaging Het
Tgoln1 T C 6: 72,592,784 (GRCm39) E232G probably damaging Het
Thrap3 A G 4: 126,065,595 (GRCm39) L729P probably damaging Het
Tmem269 A T 4: 119,062,977 (GRCm39) F220Y probably damaging Het
Tnrc18 ATCTTCC A 5: 142,759,561 (GRCm39) probably benign Het
Ubxn6 T C 17: 56,376,712 (GRCm39) T227A probably benign Het
Wdr17 C A 8: 55,088,504 (GRCm39) R1182I probably damaging Het
Wdr26 T C 1: 181,010,352 (GRCm39) I550V probably benign Het
Wdr43 A G 17: 71,964,532 (GRCm39) N637S probably benign Het
Zfp516 A G 18: 83,005,381 (GRCm39) T762A possibly 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
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
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'- AGTCAAGACAGTACCCAGCCTG -3'
(R):5'- TGGCCCTGGTGACAAATGAG -3'

Sequencing Primer
(F):5'- AGGGACCCCTGCATCTG -3'
(R):5'- GGGGGAAATGGTCTCAGCTG -3'
Posted On 2015-05-15