Incidental Mutation 'R1862:Ubap2'
ID 204004
Institutional Source Beutler Lab
Gene Symbol Ubap2
Ensembl Gene ENSMUSG00000028433
Gene Name ubiquitin-associated protein 2
Synonyms 1190005K07Rik
MMRRC Submission 039885-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.266) question?
Stock # R1862 (G1)
Quality Score 225
Status Not validated
Chromosome 4
Chromosomal Location 41194313-41275144 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 41221607 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 231 (S231P)
Ref Sequence ENSEMBL: ENSMUSP00000103703 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000030143] [ENSMUST00000108068]
AlphaFold Q91VX2
Predicted Effect probably benign
Transcript: ENSMUST00000030143
AA Change: S232P

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000030143
Gene: ENSMUSG00000028433
AA Change: S232P

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: ENSMUST00000108068
AA Change: S231P

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000103703
Gene: ENSMUSG00000028433
AA Change: S231P

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: ENSMUST00000132499
Predicted Effect unknown
Transcript: ENSMUST00000134782
AA Change: S239P
SMART Domains Protein: ENSMUSP00000121724
Gene: ENSMUSG00000028433
AA Change: S239P

DomainStartEndE-ValueType
low complexity region 33 45 N/A INTRINSIC
UBA 61 99 9.62e-8 SMART
low complexity region 123 135 N/A INTRINSIC
low complexity region 138 152 N/A INTRINSIC
low complexity region 174 193 N/A INTRINSIC
Coding Region Coverage
  • 1x: 97.5%
  • 3x: 96.8%
  • 10x: 94.9%
  • 20x: 90.5%
Validation Efficiency
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: 82 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acox2 T A 14: 8,241,416 (GRCm38) E565D probably benign Het
Adam30 A T 3: 98,069,429 (GRCm39) K421* probably null Het
Atp6v1b1 A G 6: 83,726,834 (GRCm39) probably null Het
Cacna1a A T 8: 85,142,559 (GRCm39) I96F possibly damaging Het
Card10 G A 15: 78,664,714 (GRCm39) R747W probably damaging Het
Cdh8 T A 8: 99,917,026 (GRCm39) D363V probably damaging Het
Cecr2 T C 6: 120,734,902 (GRCm39) Y685H probably damaging Het
Cibar1 C T 4: 12,155,717 (GRCm39) V306I possibly damaging Het
Cmklr1 T C 5: 113,752,468 (GRCm39) T178A probably damaging Het
Col16a1 G A 4: 129,986,575 (GRCm39) probably null Het
Col4a1 C T 8: 11,276,439 (GRCm39) probably benign Het
Coro2a T A 4: 46,548,797 (GRCm39) I166F possibly damaging Het
Cry2 T C 2: 92,254,911 (GRCm39) H148R probably damaging Het
Crygd T C 1: 65,101,133 (GRCm39) Y154C probably benign Het
Cubn T C 2: 13,313,372 (GRCm39) Y3066C probably damaging Het
Defb15 C T 8: 22,420,002 (GRCm39) E42K possibly damaging Het
Dnah12 A G 14: 26,418,553 (GRCm39) D147G probably benign Het
Dnah12 A T 14: 26,430,412 (GRCm39) Y340F probably benign Het
Dot1l G T 10: 80,619,373 (GRCm39) R193L probably damaging Het
Dusp29 A G 14: 21,736,757 (GRCm39) V115A probably benign Het
Esd A C 14: 74,979,514 (GRCm39) Y119S probably damaging Het
Esp36 A G 17: 38,730,330 (GRCm39) probably benign Het
Etfbkmt T A 6: 149,045,649 (GRCm39) M1K probably null Het
Exph5 A G 9: 53,287,548 (GRCm39) H1543R probably benign Het
Fbxo16 A G 14: 65,508,252 (GRCm39) T23A probably damaging Het
Gorasp2 C A 2: 70,509,808 (GRCm39) H136Q probably damaging Het
Hdc T A 2: 126,439,853 (GRCm39) I367F probably benign Het
Hmcn1 C T 1: 150,514,651 (GRCm39) V3574M probably benign Het
Ilvbl A G 10: 78,419,958 (GRCm39) D592G probably benign Het
Inmt G A 6: 55,151,868 (GRCm39) A34V probably damaging Het
Ints9 A C 14: 65,263,862 (GRCm39) H378P probably benign Het
Kcnh7 T A 2: 62,618,098 (GRCm39) I464L possibly damaging Het
Kcnt2 T A 1: 140,353,068 (GRCm39) V259D probably damaging Het
Lipo3 A G 19: 33,762,092 (GRCm39) F135S probably damaging Het
Lrba T C 3: 86,680,510 (GRCm39) probably null Het
Mapk1 T A 16: 16,844,293 (GRCm39) S22T probably benign Het
Mbd3l2 T C 9: 18,356,217 (GRCm39) S181P possibly damaging Het
Mgat5 C T 1: 127,387,706 (GRCm39) P554L probably damaging Het
Mki67 T C 7: 135,301,090 (GRCm39) T1315A probably benign Het
Mprip C T 11: 59,649,047 (GRCm39) T917M possibly damaging Het
Mroh3 T A 1: 136,113,726 (GRCm39) I688F probably benign Het
Myo1d A T 11: 80,553,874 (GRCm39) Y536N probably damaging Het
Neb C T 2: 52,052,199 (GRCm39) probably null Het
Noc2l A G 4: 156,322,165 (GRCm39) R161G probably benign Het
Nup54 T A 5: 92,567,426 (GRCm39) I375L possibly damaging Het
Nup93 T C 8: 95,032,730 (GRCm39) F539L probably damaging Het
Or10x1 T A 1: 174,197,018 (GRCm39) H178Q probably damaging Het
Or2n1e A G 17: 38,586,235 (GRCm39) E191G probably damaging Het
Or5p57 A C 7: 107,665,932 (GRCm39) Y24* probably null Het
Or8b12 T A 9: 37,658,264 (GRCm39) M278K probably benign Het
Panx1 A T 9: 14,918,724 (GRCm39) D378E probably damaging Het
Papss1 T A 3: 131,288,945 (GRCm39) V170D possibly damaging Het
Pcnx1 T C 12: 81,965,506 (GRCm39) S558P probably damaging Het
Pde3a G T 6: 141,433,239 (GRCm39) A757S probably damaging Het
Pde3a T A 6: 141,196,079 (GRCm39) I255N probably damaging Het
Pdzph1 A G 17: 59,229,578 (GRCm39) Y1027H probably damaging Het
Pkhd1 G T 1: 20,621,244 (GRCm39) R805S probably benign Het
Polr1a G A 6: 71,886,187 (GRCm39) G14D probably damaging Het
Prg4 T A 1: 150,336,420 (GRCm39) D60V probably damaging Het
Ptgr3 T C 18: 84,113,443 (GRCm39) V373A possibly damaging Het
Ptprc T C 1: 138,039,965 (GRCm39) S311G probably benign Het
Rapgefl1 G A 11: 98,733,035 (GRCm39) R205K probably benign Het
Rcan2 A T 17: 44,347,980 (GRCm39) probably null Het
Rock1 A G 18: 10,079,207 (GRCm39) I1087T probably damaging Het
Sectm1b A G 11: 120,945,768 (GRCm39) I191T possibly damaging Het
Septin4 A G 11: 87,458,061 (GRCm39) H145R possibly damaging Het
Setd1b T C 5: 123,285,676 (GRCm39) S241P unknown Het
Slco1a8 T C 6: 141,949,149 (GRCm39) M76V possibly damaging Het
Srpk2 T C 5: 23,729,148 (GRCm39) K497R probably benign Het
Sspo T C 6: 48,467,940 (GRCm39) S4296P probably damaging Het
Syne4 T C 7: 30,016,308 (GRCm39) V168A probably benign Het
Tank T C 2: 61,480,256 (GRCm39) F264S probably damaging Het
Ticrr T C 7: 79,344,955 (GRCm39) S1607P probably damaging Het
Trim30a A G 7: 104,060,405 (GRCm39) V457A probably damaging Het
Trim43b T A 9: 88,967,624 (GRCm39) K336N probably damaging Het
Trim47 T C 11: 115,996,963 (GRCm39) Q598R probably damaging Het
Tspan12 T C 6: 21,851,022 (GRCm39) N18S probably damaging Het
Vit A G 17: 78,930,175 (GRCm39) D380G probably damaging Het
Vmn2r2 T C 3: 64,041,942 (GRCm39) N258D possibly damaging Het
Vmn2r52 C T 7: 9,907,333 (GRCm39) C131Y possibly damaging Het
Zfp58 A T 13: 67,639,307 (GRCm39) F395I probably damaging Het
Zfp940 C A 7: 29,544,435 (GRCm39) G491C 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
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
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'- GGTGTCAAACTCAAACCTAGGCC -3'
(R):5'- CCAATCCAGCGTAGTCAGAC -3'

Sequencing Primer
(F):5'- GCCTCAGGAAGTCTACGTGAAC -3'
(R):5'- CCAGCGTAGTCAGACATTTAATAC -3'
Posted On 2014-06-23