Incidental Mutation 'R1664:Sh3pxd2a'
ID 187073
Institutional Source Beutler Lab
Gene Symbol Sh3pxd2a
Ensembl Gene ENSMUSG00000053617
Gene Name SH3 and PX domains 2A
Synonyms 2310014D11Rik, Fish, Tks5, Sh3md1
MMRRC Submission 039700-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R1664 (G1)
Quality Score 225
Status Not validated
Chromosome 19
Chromosomal Location 47248613-47452840 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 47256821 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glutamic Acid at position 632 (D632E)
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: D660E

PolyPhen 2 Score 0.020 (Sensitivity: 0.95; Specificity: 0.80)
SMART Domains Protein: ENSMUSP00000080325
Gene: ENSMUSG00000053617
AA Change: D660E

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: D632E

PolyPhen 2 Score 0.020 (Sensitivity: 0.95; Specificity: 0.80)
SMART Domains Protein: ENSMUSP00000107430
Gene: ENSMUSG00000053617
AA Change: D632E

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: 99.1%
  • 3x: 98.4%
  • 10x: 96.5%
  • 20x: 93.0%
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: 81 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930596D02Rik T A 14: 35,533,772 (GRCm39) T45S probably benign Het
Ackr1 A G 1: 173,160,433 (GRCm39) F29L probably benign Het
Adgrf2 T A 17: 43,025,305 (GRCm39) S60C possibly damaging Het
Alpk2 A G 18: 65,482,944 (GRCm39) C355R probably damaging Het
Ankmy1 A C 1: 92,812,913 (GRCm39) D465E probably benign Het
Ankrd27 T A 7: 35,306,551 (GRCm39) D310E probably damaging Het
Ap3d1 G A 10: 80,553,571 (GRCm39) Q559* probably null Het
C4b T C 17: 34,951,952 (GRCm39) T1298A probably damaging Het
Casr T A 16: 36,330,327 (GRCm39) K336* probably null Het
Ccdc116 A T 16: 16,960,492 (GRCm39) D108E probably benign Het
Ccdc168 T A 1: 44,098,387 (GRCm39) I904F possibly damaging Het
Ccr7 A T 11: 99,036,517 (GRCm39) I135N possibly damaging Het
Cd96 A G 16: 45,938,364 (GRCm39) Y34H possibly damaging Het
Cdan1 T A 2: 120,550,987 (GRCm39) D1135V probably damaging Het
Cecr2 C A 6: 120,738,987 (GRCm39) T1210K probably damaging Het
Cep152 C A 2: 125,408,174 (GRCm39) A1390S probably benign Het
Chd9 T G 8: 91,749,418 (GRCm39) probably null Het
Cntnap5c G T 17: 58,600,985 (GRCm39) W776L probably benign Het
Col24a1 G A 3: 145,095,355 (GRCm39) probably null Het
Cpa2 G T 6: 30,554,314 (GRCm39) M311I probably damaging Het
Cpz A G 5: 35,664,087 (GRCm39) F483L probably damaging Het
Ddx19a A C 8: 111,716,130 (GRCm39) V90G probably damaging Het
Fabp3 C T 4: 130,206,180 (GRCm39) T57I probably benign Het
Fbxw7 A G 3: 84,876,478 (GRCm39) D213G possibly damaging Het
Fgd2 T C 17: 29,588,273 (GRCm39) F362L probably damaging Het
Fryl A G 5: 73,216,778 (GRCm39) Y2171H probably damaging Het
Gba2 T C 4: 43,578,080 (GRCm39) R90G probably benign Het
Gm10073 T C 8: 107,299,864 (GRCm39) E40G probably damaging Het
Grhl3 T C 4: 135,279,861 (GRCm39) I398V probably benign Het
Grip2 T A 6: 91,742,233 (GRCm39) H899L probably damaging Het
Grk2 T C 19: 4,337,268 (GRCm39) K644E possibly damaging Het
Iars1 A T 13: 49,865,251 (GRCm39) T576S probably damaging Het
Kif26b G A 1: 178,759,704 (GRCm39) V2084M probably damaging Het
Kirrel1 C T 3: 86,996,458 (GRCm39) M380I probably null Het
Lrrc69 G A 4: 14,775,079 (GRCm39) T63M probably damaging Het
Lrrn4 A T 2: 132,711,886 (GRCm39) C646S probably damaging Het
Mtf2 C T 5: 108,252,342 (GRCm39) T457M probably damaging Het
Ncln A T 10: 81,323,555 (GRCm39) C531S probably benign Het
Ntn4 C T 10: 93,543,215 (GRCm39) R314W probably damaging Het
Or14j8 T C 17: 38,263,784 (GRCm39) I44V probably benign Het
Or5v1 C T 17: 37,810,316 (GRCm39) T258M possibly damaging Het
Or8c11 A T 9: 38,289,548 (GRCm39) M124L possibly damaging Het
Otogl A G 10: 107,642,437 (GRCm39) V1331A probably benign Het
Palb2 A G 7: 121,723,615 (GRCm39) probably benign Het
Pcdh20 T C 14: 88,705,758 (GRCm39) E514G possibly damaging Het
Pclaf A G 9: 65,797,730 (GRCm39) N7S probably benign Het
Pdrg1 C T 2: 152,857,248 (GRCm39) probably benign Het
Phf8-ps T A 17: 33,285,492 (GRCm39) I437F probably damaging Het
Pik3r6 T A 11: 68,426,932 (GRCm39) D464E probably benign Het
Pkp3 A G 7: 140,667,560 (GRCm39) N454D probably damaging Het
Plekha7 C A 7: 115,734,269 (GRCm39) probably null Het
Ppip5k1 A G 2: 121,167,663 (GRCm39) V784A probably benign Het
Ppp1r36 T A 12: 76,483,028 (GRCm39) D205E possibly damaging Het
Prss35 A T 9: 86,637,700 (GRCm39) T157S probably benign Het
Ptprn2 T C 12: 117,125,329 (GRCm39) L621P probably damaging Het
Rasgrp3 A G 17: 75,831,172 (GRCm39) K524R probably damaging Het
Rasgrp4 T A 7: 28,839,688 (GRCm39) H133Q probably benign Het
Reln A T 5: 22,134,084 (GRCm39) Y2615N probably damaging Het
Rpf1 T A 3: 146,217,903 (GRCm39) T204S probably benign Het
Scgb2b3 T A 7: 31,058,464 (GRCm39) *113L probably null Het
Scn5a A C 9: 119,350,243 (GRCm39) L877R possibly damaging Het
Slc39a10 T C 1: 46,865,269 (GRCm39) H522R probably damaging Het
Spink2 A T 5: 77,354,855 (GRCm39) C19S probably damaging Het
Spsb4 A G 9: 96,878,266 (GRCm39) L19P possibly damaging Het
St7l T C 3: 104,778,214 (GRCm39) V117A probably damaging Het
Stac2 C T 11: 97,933,420 (GRCm39) S174N probably damaging Het
Sult4a1 A G 15: 83,970,818 (GRCm39) Y196H probably benign Het
Tex2 C T 11: 106,458,608 (GRCm39) probably benign Het
Tprg1l A T 4: 154,243,862 (GRCm39) V98D possibly damaging Het
Ttn G A 2: 76,548,369 (GRCm39) H31978Y probably damaging Het
Ttn T C 2: 76,658,853 (GRCm39) probably benign Het
Tyk2 C A 9: 21,031,649 (GRCm39) R447L probably damaging Het
Ucn3 T C 13: 3,991,634 (GRCm39) Y6C possibly damaging Het
Urb1 A T 16: 90,584,970 (GRCm39) probably null Het
Vmn2r94 G C 17: 18,464,406 (GRCm39) A628G probably damaging Het
Wdr95 C A 5: 149,518,752 (GRCm39) T389K probably damaging Het
Wrn A T 8: 33,770,794 (GRCm39) probably null Het
Xab2 T A 8: 3,669,068 (GRCm39) probably null Het
Zfp458 A T 13: 67,406,144 (GRCm39) N95K possibly damaging Het
Zfp672 T C 11: 58,208,138 (GRCm39) H61R probably damaging Het
Zfp942 C T 17: 22,147,420 (GRCm39) G403E 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
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
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'- TGAGGCAGAACGTGGTTTCAGG -3'
(R):5'- CAGAGGTTCAGGTGACAAGCATCC -3'

Sequencing Primer
(F):5'- AGAACGTGGTTTCAGGTCACC -3'
(R):5'- AAGGATCTCGCCTGCCTC -3'
Posted On 2014-05-09