Incidental Mutation 'R9433:Sh3pxd2a'
ID 713151
Institutional Source Beutler Lab
Gene Symbol Sh3pxd2a
Ensembl Gene ENSMUSG00000053617
Gene Name SH3 and PX domains 2A
Synonyms 2310014D11Rik, Fish, Tks5, Sh3md1
MMRRC Submission
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R9433 (G1)
Quality Score 225.009
Status Not validated
Chromosome 19
Chromosomal Location 47248613-47452840 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 47255539 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Threonine at position 1088 (S1088T)
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: S1088T

PolyPhen 2 Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000080325
Gene: ENSMUSG00000053617
AA Change: S1088T

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: S1060T

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000107430
Gene: ENSMUSG00000053617
AA Change: S1060T

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: 100.0%
  • 10x: 99.7%
  • 20x: 99.2%
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: 79 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam4 T C 12: 81,466,723 (GRCm39) T633A possibly damaging Het
Adgrv1 A T 13: 81,714,471 (GRCm39) F937L probably benign Het
Adipor2 A T 6: 119,336,486 (GRCm39) F159Y probably damaging Het
Ahcyl1 A G 3: 107,575,645 (GRCm39) V380A probably damaging Het
Akp3 A G 1: 87,053,517 (GRCm39) K157E probably benign Het
Arpc1a T A 5: 145,045,203 (GRCm39) I364N possibly damaging Het
Bach1 C G 16: 87,516,603 (GRCm39) S381R probably benign Het
Brms1l G A 12: 55,912,863 (GRCm39) probably null Het
Camk1d A G 2: 5,680,777 (GRCm39) S6P unknown Het
Ccdc112 C A 18: 46,424,040 (GRCm39) V233L probably benign Het
Ccdc113 A T 8: 96,272,613 (GRCm39) N240I possibly damaging Het
Ccdc168 A T 1: 44,095,668 (GRCm39) V1810E possibly damaging Het
Ccdc6 T C 10: 70,004,951 (GRCm39) V232A possibly damaging Het
Cct5 A G 15: 31,592,883 (GRCm39) I409T possibly damaging Het
Cd96 A G 16: 45,856,298 (GRCm39) Y583H probably damaging Het
Cdh22 C T 2: 164,954,329 (GRCm39) V731M probably benign Het
Clcn1 C T 6: 42,282,494 (GRCm39) P521S probably damaging Het
Clec18a C T 8: 111,808,322 (GRCm39) A27T probably benign Het
Cnnm2 C T 19: 46,750,807 (GRCm39) A199V probably benign Het
Copg1 G A 6: 87,880,478 (GRCm39) A494T possibly damaging Het
Cpsf2 A G 12: 101,948,252 (GRCm39) E16G probably damaging Het
Cyp2j5 T A 4: 96,552,244 (GRCm39) I2F probably benign Het
Dgkg T A 16: 22,384,065 (GRCm39) N463Y probably damaging Het
Dnah11 T C 12: 117,976,007 (GRCm39) D2804G probably damaging Het
Efcab12 T C 6: 115,792,995 (GRCm39) N488D probably benign Het
Etv5 G A 16: 22,254,668 (GRCm39) P64L probably damaging Het
Fbrs A G 7: 127,084,272 (GRCm39) E468G probably benign Het
Fcho1 A T 8: 72,169,468 (GRCm39) M146K probably benign Het
Gad1 A T 2: 70,423,807 (GRCm39) M405L Het
Gcc2 T A 10: 58,106,592 (GRCm39) H609Q probably benign Het
Gm11983 A T 11: 6,786,902 (GRCm39) M75K unknown Het
Gm4353 T A 7: 115,682,871 (GRCm39) I237F probably damaging Het
H1f0 C T 15: 78,912,947 (GRCm39) P9L probably damaging Het
Hcn4 A G 9: 58,731,222 (GRCm39) D143G unknown Het
Id1 T A 2: 152,578,430 (GRCm39) V57D probably damaging Het
Ifna13 T C 4: 88,562,540 (GRCm39) Q28R probably benign Het
Itpr3 G A 17: 27,337,651 (GRCm39) probably benign Het
Lonrf2 G A 1: 38,875,538 (GRCm39) probably benign Het
Magi3 C T 3: 103,922,473 (GRCm39) A1415T probably benign Het
Mia2 A G 12: 59,148,371 (GRCm39) E77G probably damaging Het
Muc16 T A 9: 18,483,937 (GRCm39) Q6945L probably benign Het
Nos2 G A 11: 78,850,490 (GRCm39) R1116H probably damaging Het
Or2w4 C T 13: 21,795,224 (GRCm39) C305Y probably benign Het
Parpbp A C 10: 87,975,858 (GRCm39) V85G probably benign Het
Pcmtd2 C T 2: 181,496,837 (GRCm39) H273Y possibly damaging Het
Pcp4l1 C T 1: 171,001,998 (GRCm39) G54D probably damaging Het
Pkdrej T C 15: 85,704,070 (GRCm39) H622R probably benign Het
Plxnd1 G T 6: 115,945,754 (GRCm39) D906E probably benign Het
Pnpla8 T C 12: 44,330,305 (GRCm39) S286P probably damaging Het
Prss36 C T 7: 127,533,339 (GRCm39) V631I probably benign Het
Ptpn9 A T 9: 56,964,010 (GRCm39) N381I possibly damaging Het
Ranbp9 A T 13: 43,576,041 (GRCm39) I222N probably damaging Het
Rev1 T C 1: 38,092,173 (GRCm39) T1249A probably damaging Het
Ripply2 G T 9: 86,901,715 (GRCm39) W80C probably damaging Het
Rnaseh2b C A 14: 62,602,722 (GRCm39) P235Q probably benign Het
Sacs T A 14: 61,443,997 (GRCm39) F2014L probably damaging Het
Serpinb9f A G 13: 33,518,238 (GRCm39) N246S probably benign Het
Shank1 G A 7: 43,962,342 (GRCm39) S71N unknown Het
Skint3 A G 4: 112,137,432 (GRCm39) I367V probably benign Het
Slc20a2 G T 8: 23,051,211 (GRCm39) E415* probably null Het
Slc5a1 T A 5: 33,310,025 (GRCm39) S418T probably benign Het
Spats2 G T 15: 99,076,446 (GRCm39) G175* probably null Het
Srebf1 A T 11: 60,095,015 (GRCm39) F485L possibly damaging Het
St8sia4 A G 1: 95,555,364 (GRCm39) V222A Het
Stab1 C T 14: 30,865,531 (GRCm39) E1786K probably benign Het
Stat2 A G 10: 128,112,657 (GRCm39) M58V probably benign Het
Stat5a A G 11: 100,765,870 (GRCm39) T319A probably benign Het
Sufu A G 19: 46,385,532 (GRCm39) probably benign Het
Tle6 T A 10: 81,426,880 (GRCm39) I579F probably damaging Het
Tmem131l A T 3: 83,845,459 (GRCm39) D390E probably benign Het
Trim33 T A 3: 103,228,979 (GRCm39) probably null Het
Usp54 A G 14: 20,611,678 (GRCm39) V1046A probably benign Het
Vit G A 17: 78,932,413 (GRCm39) G507R probably damaging Het
Vmn2r59 A G 7: 41,695,590 (GRCm39) I274T probably damaging Het
Vmn2r67 T A 7: 84,804,917 (GRCm39) K65M possibly damaging Het
Vmn2r86 C T 10: 130,282,567 (GRCm39) G683E possibly damaging Het
Vwa8 T C 14: 79,335,871 (GRCm39) probably null Het
Zdhhc14 A G 17: 5,781,779 (GRCm39) D333G probably benign Het
Zup1 G A 10: 33,795,355 (GRCm39) S568L probably 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
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
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'- GCAGGGTTCAATGTTGTCATCC -3'
(R):5'- GAACTCCTCCTTTAGCACCG -3'

Sequencing Primer
(F):5'- ATCCCCGTGTCTGGCGTG -3'
(R):5'- TCCTTTAGCACCGCACGG -3'
Posted On 2022-05-16