Incidental Mutation 'R8948:Sh3pxd2a'
ID 681490
Institutional Source Beutler Lab
Gene Symbol Sh3pxd2a
Ensembl Gene ENSMUSG00000053617
Gene Name SH3 and PX domains 2A
Synonyms 2310014D11Rik, Fish, Tks5, Sh3md1
MMRRC Submission 068786-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R8948 (G1)
Quality Score 225.009
Status Validated
Chromosome 19
Chromosomal Location 47248613-47452840 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 47361882 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Glycine at position 83 (R83G)
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: R83G

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000080325
Gene: ENSMUSG00000053617
AA Change: R83G

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 possibly damaging
Transcript: ENSMUST00000111800
AA Change: R83G

PolyPhen 2 Score 0.781 (Sensitivity: 0.85; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000107430
Gene: ENSMUSG00000053617
AA Change: R83G

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: 98.9%
Validation Efficiency 100% (61/61)
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: 63 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abat T C 16: 8,418,805 (GRCm39) I102T possibly damaging Het
Abca9 T C 11: 110,054,206 (GRCm39) probably null Het
Ago3 T C 4: 126,244,115 (GRCm39) probably null Het
Akap1 G T 11: 88,735,099 (GRCm39) A75E probably damaging Het
Atad2b C A 12: 5,041,012 (GRCm39) A227E possibly damaging Het
Bmpr1a G T 14: 34,163,148 (GRCm39) H81N possibly damaging Het
Camkv C T 9: 107,824,296 (GRCm39) T236I probably damaging Het
Ccdc30 T C 4: 119,181,358 (GRCm39) E601G probably benign Het
Ccin G A 4: 43,984,064 (GRCm39) R157H probably damaging Het
Cdkn3 C T 14: 47,004,780 (GRCm39) P114L probably damaging Het
Col6a2 C T 10: 76,446,527 (GRCm39) G352D probably damaging Het
Csf2rb A T 15: 78,232,520 (GRCm39) D609V probably benign Het
Ctc1 T G 11: 68,917,175 (GRCm39) Y110* probably null Het
D630023F18Rik T A 1: 65,147,899 (GRCm39) N218I probably damaging Het
Dchs1 A T 7: 105,408,212 (GRCm39) H1873Q probably benign Het
Dnah1 T C 14: 31,012,396 (GRCm39) D1901G probably damaging Het
Eddm3b T A 14: 51,354,110 (GRCm39) S33T probably damaging Het
Efcc1 A G 6: 87,728,768 (GRCm39) T408A probably benign Het
Epas1 A G 17: 87,134,920 (GRCm39) T518A probably benign Het
Ergic2 A T 6: 148,104,005 (GRCm39) M84K probably damaging Het
Ergic3 T C 2: 155,853,160 (GRCm39) V201A probably benign Het
Espn C A 4: 152,223,278 (GRCm39) W258L probably damaging Het
Gm45337 A G 7: 141,697,817 (GRCm39) S156P unknown Het
Hmcn2 T C 2: 31,244,741 (GRCm39) Y733H probably damaging Het
Itga2 C T 13: 115,009,866 (GRCm39) G363D probably damaging Het
Kcnk5 T C 14: 20,192,046 (GRCm39) R372G probably benign Het
Khdc4 G T 3: 88,617,219 (GRCm39) S506I probably damaging Het
Kif11 T A 19: 37,386,602 (GRCm39) D387E probably damaging Het
Lrrn2 A C 1: 132,866,104 (GRCm39) I390L probably benign Het
Map2 G T 1: 66,419,684 (GRCm39) R5L probably damaging Het
Muc16 C T 9: 18,558,529 (GRCm39) R2588K unknown Het
Or3a10 A G 11: 73,935,782 (GRCm39) F106S possibly damaging Het
Or5b99 A T 19: 12,976,445 (GRCm39) I32F probably damaging Het
Or7g29 A G 9: 19,286,262 (GRCm39) I305T probably benign Het
Osbpl8 T C 10: 111,103,530 (GRCm39) I178T probably damaging Het
Pak2 A T 16: 31,852,729 (GRCm39) probably benign Het
Perp A T 10: 18,729,326 (GRCm39) I86F possibly damaging Het
Plpp1 A T 13: 112,993,511 (GRCm39) I149F probably damaging Het
Polr1f T A 12: 33,483,526 (GRCm39) Y93N probably damaging Het
Preb A G 5: 31,115,671 (GRCm39) S220P probably damaging Het
Prrt4 T C 6: 29,177,665 (GRCm39) T35A probably damaging Het
Ror2 T A 13: 53,286,032 (GRCm39) I73F possibly damaging Het
Rpl36-ps4 A G 17: 88,228,574 (GRCm39) T40A probably damaging Het
Rsbn1 A T 3: 103,868,830 (GRCm39) H623L possibly damaging Het
Sap30 C A 8: 57,940,456 (GRCm39) A49S possibly damaging Het
Sf3b3 T C 8: 111,550,075 (GRCm39) T648A probably benign Het
Slc35e1 A T 8: 73,246,042 (GRCm39) I130N probably damaging Het
Smchd1 C T 17: 71,743,767 (GRCm39) R466Q probably damaging Het
Smgc C T 15: 91,722,565 (GRCm39) probably benign Het
Stk32b A T 5: 37,612,341 (GRCm39) N348K possibly damaging Het
Sult2a1 A G 7: 13,530,342 (GRCm39) F266L probably damaging Het
Sult2a2 A T 7: 13,467,484 (GRCm39) M1L probably damaging Het
Telo2 A G 17: 25,332,085 (GRCm39) V161A probably benign Het
Tmed11 C T 5: 108,925,293 (GRCm39) R173H probably damaging Het
Trappc6a G A 7: 19,249,923 (GRCm39) probably benign Het
Vmn2r5 A T 3: 64,398,522 (GRCm39) V819D probably damaging Het
Vmn2r74 A G 7: 85,606,569 (GRCm39) I259T probably damaging Het
Vps13a A G 19: 16,723,340 (GRCm39) I286T probably damaging Het
Vsig10l A T 7: 43,117,623 (GRCm39) I739F possibly damaging Het
Zfyve1 A C 12: 83,594,802 (GRCm39) V730G probably benign Het
Zfyve9 A T 4: 108,499,288 (GRCm39) D1284E possibly damaging Het
Zmym4 C T 4: 126,758,060 (GRCm39) R1498H probably damaging Het
Znhit2 A T 19: 6,111,803 (GRCm39) R183* probably null 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
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
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'- TGACTGATCCCAAGTGACAGTC -3'
(R):5'- TGTTCATAGAAGCCCAAGATGG -3'

Sequencing Primer
(F):5'- GTGACAGTCACTCCACACC -3'
(R):5'- AAGATGGCAGCCTCCAGG -3'
Posted On 2021-08-31