Incidental Mutation 'R3755:Ubap2'
ID 271379
Institutional Source Beutler Lab
Gene Symbol Ubap2
Ensembl Gene ENSMUSG00000028433
Gene Name ubiquitin-associated protein 2
Synonyms 1190005K07Rik
MMRRC Submission 040738-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.266) question?
Stock # R3755 (G1)
Quality Score 225
Status Validated
Chromosome 4
Chromosomal Location 41194313-41275144 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 41195482 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Serine at position 1051 (F1051S)
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: F1052S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000030143
Gene: ENSMUSG00000028433
AA Change: F1052S

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: F1051S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000103703
Gene: ENSMUSG00000028433
AA Change: F1051S

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 unknown
Transcript: ENSMUST00000136057
AA Change: F43S
SMART Domains Protein: ENSMUSP00000120205
Gene: ENSMUSG00000028433
AA Change: F43S

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 0.6186 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.5%
  • 10x: 97.1%
  • 20x: 94.4%
Validation Efficiency 96% (50/52)
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: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9330159F19Rik C A 10: 29,098,110 (GRCm39) S169Y probably damaging Het
Abcb1a G A 5: 8,797,403 (GRCm39) V1225M possibly damaging Het
Adamdec1 A T 14: 68,814,587 (GRCm39) I130N probably damaging Het
Atf7ip T A 6: 136,537,815 (GRCm39) N357K probably benign Het
Bace2 C G 16: 97,237,857 (GRCm39) T436R probably benign Het
Capn13 G A 17: 73,638,114 (GRCm39) Q430* probably null Het
Ccdc30 A T 4: 119,225,005 (GRCm39) probably null Het
Ces5a T C 8: 94,255,130 (GRCm39) T184A probably benign Het
Cntnap5c T C 17: 58,411,594 (GRCm39) C493R possibly damaging Het
Creb3l2 A T 6: 37,340,961 (GRCm39) I146N possibly damaging Het
Erich3 A G 3: 154,469,958 (GRCm39) probably benign Het
Etl4 G A 2: 20,748,348 (GRCm39) V27I probably benign Het
Fabp3 C T 4: 130,206,180 (GRCm39) T57I probably benign Het
Fsip2 G A 2: 82,808,561 (GRCm39) D1627N probably benign Het
Gcdh A G 8: 85,620,109 (GRCm39) probably benign Het
Kcna7 T C 7: 45,058,369 (GRCm39) F219L probably benign Het
Kdm3b T C 18: 34,941,349 (GRCm39) L280S probably benign Het
Knl1 T A 2: 118,933,060 (GRCm39) V2073D probably damaging Het
Kprp A G 3: 92,732,346 (GRCm39) S235P unknown Het
Lpp A G 16: 24,663,911 (GRCm39) H396R probably benign Het
Lrch4 T A 5: 137,635,992 (GRCm39) D348E probably damaging Het
Mcm9 T C 10: 53,502,048 (GRCm39) N179S probably benign Het
Mettl13 T C 1: 162,371,789 (GRCm39) E360G probably damaging Het
Nfib A T 4: 82,241,936 (GRCm39) S418R probably damaging Het
Or52b1 A G 7: 104,979,358 (GRCm39) F14L probably damaging Het
Or8s2 A C 15: 98,276,463 (GRCm39) I176S probably benign Het
Pcdha8 G A 18: 37,126,741 (GRCm39) V408M probably damaging Het
Pcdhb3 T C 18: 37,435,878 (GRCm39) F615L probably damaging Het
Pkd1l3 C T 8: 110,359,171 (GRCm39) T844I probably damaging Het
Pkhd1l1 A T 15: 44,452,802 (GRCm39) E3909V probably damaging Het
Poldip3 A G 15: 83,015,676 (GRCm39) probably benign Het
Ptpn1 T C 2: 167,816,143 (GRCm39) I219T probably damaging Het
Rad18 T C 6: 112,670,432 (GRCm39) N44S probably damaging Het
Reep5 T C 18: 34,505,527 (GRCm39) Y48C probably damaging Het
Rgl2 C A 17: 34,151,571 (GRCm39) A205D probably benign Het
Rundc3a A G 11: 102,290,085 (GRCm39) I175V possibly damaging Het
Slamf1 C T 1: 171,604,728 (GRCm39) A166V probably damaging Het
Slc4a5 A G 6: 83,265,285 (GRCm39) D693G probably benign Het
Snap23 T A 2: 120,416,726 (GRCm39) C79S probably damaging Het
Spag6l A C 16: 16,580,884 (GRCm39) probably null Het
Trappc13 C T 13: 104,305,068 (GRCm39) D40N probably benign Het
Trav4-3 C A 14: 53,836,596 (GRCm39) S20R probably benign Het
Tssk2 G A 16: 17,716,827 (GRCm39) E77K probably damaging Het
Ugt3a1 A G 15: 9,367,498 (GRCm39) T414A probably benign Het
Urod C T 4: 116,850,601 (GRCm39) C66Y probably damaging Het
Vmn1r234 A G 17: 21,449,271 (GRCm39) K62E probably damaging Het
Wiz A G 17: 32,578,106 (GRCm39) S460P probably damaging Het
Zbbx C T 3: 75,012,978 (GRCm39) G151E probably damaging Het
Zbtb7a C T 10: 80,980,100 (GRCm39) T98M probably damaging Het
Zfp524 C A 7: 5,020,884 (GRCm39) H137Q probably damaging 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
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
R5763:Ubap2 UTSW 4 41,195,809 (GRCm39) missense probably damaging 1.00
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'- CTTGAGACTTGGGCTGAAGG -3'
(R):5'- CTGGCTTACCTGATATGACTGG -3'

Sequencing Primer
(F):5'- AGAGCCGCTCTGAGGAG -3'
(R):5'- TGACTGGTTCCGTCTACAACAAG -3'
Posted On 2015-03-18