Incidental Mutation 'R4788:Sh3pxd2a'
ID 367286
Institutional Source Beutler Lab
Gene Symbol Sh3pxd2a
Ensembl Gene ENSMUSG00000053617
Gene Name SH3 and PX domains 2A
Synonyms 2310014D11Rik, Fish, Tks5, Sh3md1
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R4788 (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 G at 47302518 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Proline at position 187 (L187P)
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: L187P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000080325
Gene: ENSMUSG00000053617
AA Change: L187P

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: L187P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000107430
Gene: ENSMUSG00000053617
AA Change: L187P

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: 98.8%
  • 3x: 98.4%
  • 10x: 96.9%
  • 20x: 94.4%
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: 68 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca4 G A 3: 121,960,361 (GRCm39) D815N probably damaging Het
Abcc9 A T 6: 142,566,456 (GRCm39) C1135* probably null Het
Ap3b1 G A 13: 94,702,149 (GRCm39) M1067I unknown Het
Arhgap15 T C 2: 43,638,902 (GRCm39) M1T probably null Het
Boc T C 16: 44,320,796 (GRCm39) D288G probably damaging Het
Brsk1 G T 7: 4,701,954 (GRCm39) probably null Het
Cabp1 T C 5: 115,313,530 (GRCm39) N226S probably benign Het
Capn13 A T 17: 73,644,427 (GRCm39) Y367* probably null Het
Ccdc191 A G 16: 43,777,185 (GRCm39) E632G probably damaging Het
Cit T C 5: 116,071,565 (GRCm39) S591P probably damaging Het
Ckmt1 T C 2: 121,190,427 (GRCm39) V118A possibly damaging Het
Cndp2 T C 18: 84,693,289 (GRCm39) N157S probably damaging Het
Col6a3 A G 1: 90,700,672 (GRCm39) probably null Het
Coq2 A T 5: 100,805,775 (GRCm39) V287E probably damaging Het
Cpa6 T C 1: 10,478,502 (GRCm39) K278R possibly damaging Het
Cracdl A T 1: 37,670,556 (GRCm39) I128K probably damaging Het
Cybb C G X: 9,316,989 (GRCm39) D246H probably benign Het
Cyp3a25 A T 5: 145,921,892 (GRCm39) Y347* probably null Het
Dcun1d4 G T 5: 73,691,971 (GRCm39) W160L probably damaging Het
Dennd4c A G 4: 86,738,200 (GRCm39) T994A probably benign Het
Dhx57 T C 17: 80,582,760 (GRCm39) T229A probably benign Het
Dnah6 T A 6: 73,106,513 (GRCm39) R1741S probably damaging Het
Dock1 T A 7: 134,747,213 (GRCm39) V1508D probably damaging Het
Donson T C 16: 91,484,721 (GRCm39) T117A possibly damaging Het
Dtnb A G 12: 3,822,699 (GRCm39) D533G probably damaging Het
Fcrl5 A G 3: 87,364,495 (GRCm39) N470S probably damaging Het
Focad T A 4: 88,275,706 (GRCm39) V1105E unknown Het
Fry T C 5: 150,323,101 (GRCm39) V1084A probably benign Het
Gabra1 G T 11: 42,037,980 (GRCm39) R213S probably damaging Het
Gbp2b A C 3: 142,317,171 (GRCm39) K509T probably benign Het
Gprc6a T C 10: 51,491,104 (GRCm39) T811A probably benign Het
Hmgcs2 A G 3: 98,198,400 (GRCm39) D101G probably damaging Het
Ifna11 G A 4: 88,738,245 (GRCm39) W17* probably null Het
Ighv1-62-3 T A 12: 115,424,672 (GRCm39) M100L probably benign Het
Lgmn T A 12: 102,368,936 (GRCm39) Y181F probably benign Het
Map4k4 T C 1: 40,043,076 (GRCm39) S644P probably benign Het
Med9 T A 11: 59,839,266 (GRCm39) N58K probably benign Het
Nav1 C T 1: 135,397,461 (GRCm39) A903T probably benign Het
Nop53 T C 7: 15,676,240 (GRCm39) E153G possibly damaging Het
Nop56 G T 2: 130,120,820 (GRCm39) V190L probably benign Het
Nyap2 A T 1: 81,247,112 (GRCm39) M687L probably benign Het
Or4a81 G A 2: 89,619,480 (GRCm39) S72F probably damaging Het
Or8g17 T C 9: 38,930,217 (GRCm39) T207A probably benign Het
Or8g26 A G 9: 39,095,908 (GRCm39) T145A probably benign Het
Osbp2 T C 11: 3,813,320 (GRCm39) K183R probably benign Het
Pappa2 A G 1: 158,611,487 (GRCm39) V1492A possibly damaging Het
Pax1 A G 2: 147,208,124 (GRCm39) Q244R possibly damaging Het
Pcdh9 C A 14: 94,124,851 (GRCm39) V317F probably damaging Het
Pkhd1l1 A T 15: 44,361,417 (GRCm39) Q489L probably damaging Het
Poln A T 5: 34,286,675 (GRCm39) S164R probably benign Het
Ptf1a T C 2: 19,450,762 (GRCm39) S31P probably benign Het
Rasal3 A T 17: 32,618,312 (GRCm39) D164E probably benign Het
Rnf170 A G 8: 26,630,891 (GRCm39) E168G probably damaging Het
Rubcn A G 16: 32,656,778 (GRCm39) probably null Het
Sec16b A T 1: 157,389,094 (GRCm39) T830S possibly damaging Het
Sel1l3 A G 5: 53,289,175 (GRCm39) V882A probably benign Het
Sfpq A G 4: 126,919,791 (GRCm39) E512G probably damaging Het
Skint6 C T 4: 113,095,533 (GRCm39) G42D possibly damaging Het
Slc7a2 A G 8: 41,367,023 (GRCm39) I526V probably benign Het
Spmip7 T C 11: 11,438,652 (GRCm39) probably null Het
Ssh2 A T 11: 77,320,624 (GRCm39) N328Y probably damaging Het
Taok2 G A 7: 126,467,304 (GRCm39) S167L possibly damaging Het
Tom1l2 A G 11: 60,139,844 (GRCm39) L275P probably damaging Het
Trgv5 A G 13: 19,376,724 (GRCm39) K57R probably benign Het
Tyrp1 C T 4: 80,763,180 (GRCm39) R356* probably null Het
Zan A G 5: 137,440,375 (GRCm39) L1953P unknown Het
Zfhx3 T C 8: 109,520,842 (GRCm39) S655P probably damaging Het
Zmym1 T C 4: 126,948,090 (GRCm39) T94A 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
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'- GAACTTCAGACTCTTCGGCC -3'
(R):5'- GCTATATGGCCTGTCCTTGG -3'

Sequencing Primer
(F):5'- AGACTCTTCGGCCCTCTC -3'
(R):5'- CAGAGCTGGCGACCGAG -3'
Posted On 2015-12-29