Incidental Mutation 'R5763:Ubap2'
ID 446101
Institutional Source Beutler Lab
Gene Symbol Ubap2
Ensembl Gene ENSMUSG00000028433
Gene Name ubiquitin-associated protein 2
Synonyms 1190005K07Rik
MMRRC Submission 043364-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.266) question?
Stock # R5763 (G1)
Quality Score 225
Status Validated
Chromosome 4
Chromosomal Location 41194313-41275144 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 41195809 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Lysine to Glutamic Acid at position 994 (K994E)
Ref Sequence ENSEMBL: ENSMUSP00000103703 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000030143] [ENSMUST00000040008] [ENSMUST00000108068]
AlphaFold Q91VX2
Predicted Effect probably damaging
Transcript: ENSMUST00000030143
AA Change: K995E

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000030143
Gene: ENSMUSG00000028433
AA Change: K995E

DomainStartEndE-ValueType
UBA 53 91 9.62e-8 SMART
low complexity region 115 127 N/A INTRINSIC
low complexity region 130 144 N/A INTRINSIC
low complexity region 166 185 N/A INTRINSIC
low complexity region 256 266 N/A INTRINSIC
low complexity region 341 358 N/A INTRINSIC
low complexity region 436 448 N/A INTRINSIC
Pfam:DUF3697 512 544 1.5e-18 PFAM
low complexity region 583 618 N/A INTRINSIC
low complexity region 631 644 N/A INTRINSIC
low complexity region 696 722 N/A INTRINSIC
low complexity region 744 768 N/A INTRINSIC
low complexity region 787 800 N/A INTRINSIC
low complexity region 888 914 N/A INTRINSIC
low complexity region 1007 1024 N/A INTRINSIC
low complexity region 1057 1078 N/A INTRINSIC
low complexity region 1084 1098 N/A INTRINSIC
low complexity region 1101 1115 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000040008
SMART Domains Protein: ENSMUSP00000038813
Gene: ENSMUSG00000036241

DomainStartEndE-ValueType
UBCc 11 174 1.55e-65 SMART
low complexity region 204 232 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000108068
AA Change: K994E

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000103703
Gene: ENSMUSG00000028433
AA Change: K994E

DomainStartEndE-ValueType
UBA 52 90 9.62e-8 SMART
low complexity region 114 126 N/A INTRINSIC
low complexity region 129 143 N/A INTRINSIC
low complexity region 165 184 N/A INTRINSIC
low complexity region 255 265 N/A INTRINSIC
low complexity region 340 357 N/A INTRINSIC
low complexity region 435 447 N/A INTRINSIC
Pfam:DUF3697 511 543 1.2e-20 PFAM
low complexity region 582 617 N/A INTRINSIC
low complexity region 630 643 N/A INTRINSIC
low complexity region 695 721 N/A INTRINSIC
low complexity region 743 767 N/A INTRINSIC
low complexity region 786 799 N/A INTRINSIC
low complexity region 887 913 N/A INTRINSIC
low complexity region 1006 1023 N/A INTRINSIC
low complexity region 1056 1077 N/A INTRINSIC
low complexity region 1083 1097 N/A INTRINSIC
low complexity region 1100 1114 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000123642
Predicted Effect noncoding transcript
Transcript: ENSMUST00000129874
Predicted Effect probably benign
Transcript: ENSMUST00000136057
SMART Domains Protein: ENSMUSP00000120205
Gene: ENSMUSG00000028433

DomainStartEndE-ValueType
low complexity region 1 16 N/A INTRINSIC
low complexity region 49 70 N/A INTRINSIC
low complexity region 76 90 N/A INTRINSIC
low complexity region 117 136 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000143552
Meta Mutation Damage Score 0.1950 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.8%
  • 10x: 97.5%
  • 20x: 95.9%
Validation Efficiency 97% (70/72)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene contains a UBA (ubiquitin associated) domain, which is characteristic of proteins that function in the ubiquitination pathway. This gene may show increased expression in the adrenal gland and lymphatic tissues. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2013]
Allele List at MGI
Other mutations in this stock
Total: 65 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
AA986860 A G 1: 130,670,768 (GRCm39) H330R possibly damaging Het
Acot11 C T 4: 106,617,327 (GRCm39) G240R probably damaging Het
Actl6b T A 5: 137,565,063 (GRCm39) L314Q possibly damaging Het
Adam22 A T 5: 8,184,544 (GRCm39) C483S probably damaging Het
Adamts7 T A 9: 90,070,462 (GRCm39) L601H probably damaging Het
Agl A T 3: 116,547,009 (GRCm39) D1280E probably damaging Het
Ankrd60 TGGCCACGCGG TGG 2: 173,419,882 (GRCm39) probably null Het
Astn2 T A 4: 65,647,568 (GRCm39) M757L probably benign Het
Atr A G 9: 95,827,176 (GRCm39) M2407V probably benign Het
Brca2 T C 5: 150,471,471 (GRCm39) F2283L possibly damaging Het
Brwd1 A T 16: 95,835,043 (GRCm39) Y940* probably null Het
Camk2g A T 14: 20,789,415 (GRCm39) N218K probably damaging Het
Ces2a C T 8: 105,462,756 (GRCm39) P115L probably benign Het
Col11a1 T C 3: 113,888,245 (GRCm39) probably benign Het
Col1a2 T A 6: 4,515,682 (GRCm39) D150E unknown Het
Crybg3 A G 16: 59,374,973 (GRCm39) S2094P possibly damaging Het
Cttnbp2 T C 6: 18,414,298 (GRCm39) N916D probably benign Het
Ddx24 A G 12: 103,383,673 (GRCm39) F593L probably damaging Het
Dhx16 G A 17: 36,192,580 (GRCm39) E171K possibly damaging Het
Dnah5 T C 15: 28,311,298 (GRCm39) I1759T probably damaging Het
Dnah9 C A 11: 65,846,065 (GRCm39) S2991I probably damaging Het
Entpd7 G T 19: 43,692,705 (GRCm39) V87L probably damaging Het
Fam221a T G 6: 49,355,518 (GRCm39) L207V probably damaging Het
Foxm1 T A 6: 128,343,071 (GRCm39) I135N probably benign Het
Gabpa C A 16: 84,657,297 (GRCm39) Q391K possibly damaging Het
Gipr T A 7: 18,897,475 (GRCm39) H111L probably damaging Het
Gmip A G 8: 70,270,501 (GRCm39) D737G probably damaging Het
Herc6 T A 6: 57,639,872 (GRCm39) N995K probably damaging Het
Ldha G A 7: 46,497,213 (GRCm39) probably benign Het
Lrrc37 G A 11: 103,504,469 (GRCm39) P324S probably damaging Het
Masp1 T C 16: 23,314,997 (GRCm39) E88G probably damaging Het
Mical2 G A 7: 111,973,861 (GRCm39) probably null Het
Mill1 T A 7: 17,979,587 (GRCm39) V18E probably benign Het
Mrgpra3 A T 7: 47,239,355 (GRCm39) C190* probably null Het
Nog C T 11: 89,192,291 (GRCm39) V186M probably damaging Het
Nrxn2 T C 19: 6,581,369 (GRCm39) F392L probably benign Het
Or11h7 T C 14: 50,891,525 (GRCm39) I277T possibly damaging Het
Or12j3 T A 7: 139,953,568 (GRCm39) probably null Het
Or1e33 T A 11: 73,738,693 (GRCm39) Q86L probably benign Het
Or4a79 T A 2: 89,552,372 (GRCm39) M28L probably benign Het
Or7c74 T C 2: 37,161,025 (GRCm39) noncoding transcript Het
Phyhd1 T A 2: 30,169,983 (GRCm39) D158E probably damaging Het
Pik3r4 G T 9: 105,546,974 (GRCm39) K917N probably benign Het
Pnma1 A G 12: 84,194,124 (GRCm39) V193A possibly damaging Het
Podxl2 T C 6: 88,826,805 (GRCm39) E167G probably damaging Het
Prss50 A T 9: 110,691,517 (GRCm39) K82* probably null Het
Qsox1 A G 1: 155,655,625 (GRCm39) S513P probably benign Het
Rheb A G 5: 25,012,785 (GRCm39) V98A probably benign Het
Rhoj A G 12: 75,438,606 (GRCm39) I131V probably benign Het
Rsph4a A T 10: 33,781,684 (GRCm39) D178V probably damaging Het
Setd2 T G 9: 110,385,343 (GRCm39) probably null Het
Siglecf A T 7: 43,005,744 (GRCm39) K434* probably null Het
Slc14a1 T C 18: 78,159,629 (GRCm39) Y88C probably benign Het
Snx15 T C 19: 6,172,140 (GRCm39) E89G probably damaging Het
Son C T 16: 91,454,378 (GRCm39) R1042C probably damaging Het
Srsf11 C T 3: 157,728,981 (GRCm39) probably benign Het
Suz12 C A 11: 79,916,134 (GRCm39) Y457* probably null Het
Tet1 T A 10: 62,675,847 (GRCm39) N743I probably damaging Het
Tmc6 A G 11: 117,660,259 (GRCm39) F660L possibly damaging Het
Tnpo1 A C 13: 98,996,445 (GRCm39) I452S possibly damaging Het
Trav4-3 G T 14: 53,836,844 (GRCm39) G103V probably damaging Het
Vmn2r14 T C 5: 109,363,724 (GRCm39) T731A possibly damaging Het
Vmn2r52 T A 7: 9,905,231 (GRCm39) I203L probably benign Het
Zfp663 G T 2: 165,200,355 (GRCm39) S75* probably null Het
Zik1 G T 7: 10,226,293 (GRCm39) H25N probably benign Het
Other mutations in Ubap2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01011:Ubap2 APN 4 41,195,328 (GRCm39) splice site probably benign
IGL01109:Ubap2 APN 4 41,195,155 (GRCm39) missense probably damaging 1.00
IGL01354:Ubap2 APN 4 41,207,005 (GRCm39) missense probably damaging 1.00
IGL01563:Ubap2 APN 4 41,195,998 (GRCm39) missense probably damaging 0.96
IGL01602:Ubap2 APN 4 41,227,237 (GRCm39) missense probably damaging 1.00
IGL01605:Ubap2 APN 4 41,227,237 (GRCm39) missense probably damaging 1.00
IGL01688:Ubap2 APN 4 41,226,308 (GRCm39) missense probably benign
IGL01733:Ubap2 APN 4 41,195,862 (GRCm39) unclassified probably benign
IGL01896:Ubap2 APN 4 41,202,362 (GRCm39) missense possibly damaging 0.85
IGL01942:Ubap2 APN 4 41,251,608 (GRCm39) missense probably benign 0.00
IGL02095:Ubap2 APN 4 41,229,709 (GRCm39) missense probably benign
R0608:Ubap2 UTSW 4 41,218,319 (GRCm39) missense probably benign 0.10
R0938:Ubap2 UTSW 4 41,202,304 (GRCm39) missense probably damaging 1.00
R1449:Ubap2 UTSW 4 41,209,351 (GRCm39) critical splice donor site probably null
R1484:Ubap2 UTSW 4 41,235,593 (GRCm39) missense probably damaging 1.00
R1548:Ubap2 UTSW 4 41,199,872 (GRCm39) missense probably benign 0.12
R1549:Ubap2 UTSW 4 41,199,872 (GRCm39) missense probably benign 0.12
R1604:Ubap2 UTSW 4 41,199,872 (GRCm39) missense probably benign 0.12
R1607:Ubap2 UTSW 4 41,199,872 (GRCm39) missense probably benign 0.12
R1739:Ubap2 UTSW 4 41,206,849 (GRCm39) missense probably benign 0.00
R1772:Ubap2 UTSW 4 41,202,380 (GRCm39) missense probably benign 0.02
R1862:Ubap2 UTSW 4 41,221,607 (GRCm39) missense probably benign
R1869:Ubap2 UTSW 4 41,233,617 (GRCm39) missense probably damaging 1.00
R1886:Ubap2 UTSW 4 41,199,872 (GRCm39) missense probably benign 0.12
R1887:Ubap2 UTSW 4 41,199,872 (GRCm39) missense probably benign 0.12
R2063:Ubap2 UTSW 4 41,199,872 (GRCm39) missense probably benign 0.12
R2064:Ubap2 UTSW 4 41,199,872 (GRCm39) missense probably benign 0.12
R2065:Ubap2 UTSW 4 41,199,872 (GRCm39) missense probably benign 0.12
R2066:Ubap2 UTSW 4 41,199,872 (GRCm39) missense probably benign 0.12
R2095:Ubap2 UTSW 4 41,206,901 (GRCm39) missense possibly damaging 0.68
R2214:Ubap2 UTSW 4 41,199,714 (GRCm39) critical splice donor site probably null
R2215:Ubap2 UTSW 4 41,196,483 (GRCm39) splice site probably null
R2318:Ubap2 UTSW 4 41,251,542 (GRCm39) missense probably damaging 0.99
R3755:Ubap2 UTSW 4 41,195,482 (GRCm39) missense probably damaging 1.00
R4620:Ubap2 UTSW 4 41,233,698 (GRCm39) missense probably damaging 1.00
R4717:Ubap2 UTSW 4 41,218,333 (GRCm39) missense possibly damaging 0.93
R4756:Ubap2 UTSW 4 41,211,771 (GRCm39) missense probably damaging 1.00
R4942:Ubap2 UTSW 4 41,245,461 (GRCm39) intron probably benign
R5344:Ubap2 UTSW 4 41,251,578 (GRCm39) missense possibly damaging 0.46
R5851:Ubap2 UTSW 4 41,206,268 (GRCm39) nonsense probably null
R5951:Ubap2 UTSW 4 41,205,753 (GRCm39) splice site probably null
R6178:Ubap2 UTSW 4 41,206,981 (GRCm39) missense probably benign
R6489:Ubap2 UTSW 4 41,203,574 (GRCm39) critical splice acceptor site probably null
R6520:Ubap2 UTSW 4 41,195,155 (GRCm39) missense probably damaging 1.00
R6652:Ubap2 UTSW 4 41,196,743 (GRCm39) missense possibly damaging 0.68
R6702:Ubap2 UTSW 4 41,227,210 (GRCm39) small insertion probably benign
R6736:Ubap2 UTSW 4 41,227,224 (GRCm39) small insertion probably benign
R6736:Ubap2 UTSW 4 41,227,210 (GRCm39) small insertion probably benign
R6860:Ubap2 UTSW 4 41,233,631 (GRCm39) missense probably damaging 1.00
R7007:Ubap2 UTSW 4 41,206,221 (GRCm39) missense probably damaging 0.97
R7048:Ubap2 UTSW 4 41,196,033 (GRCm39) missense possibly damaging 0.49
R7121:Ubap2 UTSW 4 41,205,550 (GRCm39) missense probably benign 0.00
R7371:Ubap2 UTSW 4 41,195,779 (GRCm39) missense probably benign 0.16
R7378:Ubap2 UTSW 4 41,235,515 (GRCm39) critical splice donor site probably null
R7695:Ubap2 UTSW 4 41,211,740 (GRCm39) missense probably damaging 0.98
R7811:Ubap2 UTSW 4 41,211,710 (GRCm39) missense probably benign 0.22
R7828:Ubap2 UTSW 4 41,221,615 (GRCm39) missense probably benign 0.00
R7838:Ubap2 UTSW 4 41,233,655 (GRCm39) missense probably damaging 1.00
R8016:Ubap2 UTSW 4 41,195,201 (GRCm39) missense possibly damaging 0.91
R8790:Ubap2 UTSW 4 41,209,351 (GRCm39) critical splice donor site probably null
R8817:Ubap2 UTSW 4 41,223,425 (GRCm39) missense possibly damaging 0.66
R9379:Ubap2 UTSW 4 41,216,630 (GRCm39) missense possibly damaging 0.67
R9470:Ubap2 UTSW 4 41,195,434 (GRCm39) missense possibly damaging 0.64
R9536:Ubap2 UTSW 4 41,195,661 (GRCm39) missense probably benign 0.01
X0061:Ubap2 UTSW 4 41,196,507 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- AGGTAAGCCAGTGCCTGAAG -3'
(R):5'- TGTCCAATCAGGTCCCTCCAAC -3'

Sequencing Primer
(F):5'- GTGCCTGAAGATACTGACACTCCTAG -3'
(R):5'- CGAAGCAGCACGGTGTG -3'
Posted On 2016-11-21