Incidental Mutation 'R8817:Ubap2'
ID 672783
Institutional Source Beutler Lab
Gene Symbol Ubap2
Ensembl Gene ENSMUSG00000028433
Gene Name ubiquitin-associated protein 2
Synonyms 1190005K07Rik
MMRRC Submission 068727-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.266) question?
Stock # R8817 (G1)
Quality Score 225.009
Status Validated
Chromosome 4
Chromosomal Location 41194313-41275144 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 41223425 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 204 (S204P)
Ref Sequence ENSEMBL: ENSMUSP00000030143 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000030143] [ENSMUST00000108068]
AlphaFold Q91VX2
Predicted Effect possibly damaging
Transcript: ENSMUST00000030143
AA Change: S204P

PolyPhen 2 Score 0.662 (Sensitivity: 0.86; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000030143
Gene: ENSMUSG00000028433
AA Change: S204P

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 possibly damaging
Transcript: ENSMUST00000108068
AA Change: S203P

PolyPhen 2 Score 0.662 (Sensitivity: 0.86; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000103703
Gene: ENSMUSG00000028433
AA Change: S203P

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
SMART Domains Protein: ENSMUSP00000121724
Gene: ENSMUSG00000028433
AA Change: S211P

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: 100.0%
  • 3x: 99.9%
  • 10x: 99.8%
  • 20x: 99.4%
Validation Efficiency 99% (77/78)
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: 75 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aadacl4fm4 A G 4: 144,400,361 (GRCm39) V139A probably benign Het
Aass A T 6: 23,097,195 (GRCm39) Y41* probably null Het
AI429214 G A 8: 37,461,268 (GRCm39) V139I probably benign Het
Cacna1a G A 8: 85,365,426 (GRCm39) A2190T probably benign Het
Cstpp1 A G 2: 91,107,343 (GRCm39) Y320H probably benign Het
Cutc T C 19: 43,744,113 (GRCm39) V38A probably benign Het
Cxcl10 G T 5: 92,495,230 (GRCm39) P98H probably damaging Het
Dop1a T C 9: 86,396,003 (GRCm39) S822P possibly damaging Het
Dusp19 T C 2: 80,454,631 (GRCm39) L117P probably damaging Het
Emc3 A G 6: 113,492,868 (GRCm39) F261S probably damaging Het
Ephx2 T C 14: 66,344,725 (GRCm39) T200A probably benign Het
Eri1 A C 8: 35,945,792 (GRCm39) D164E probably damaging Het
Ethe1 T C 7: 24,305,727 (GRCm39) I158T probably damaging Het
Fancm C T 12: 65,167,331 (GRCm39) R1547C probably damaging Het
Fer1l4 T A 2: 155,890,143 (GRCm39) T261S probably damaging Het
Fyb2 A G 4: 104,802,652 (GRCm39) R185G probably benign Het
Gabrp A T 11: 33,504,464 (GRCm39) S284T possibly damaging Het
Gga2 G A 7: 121,590,845 (GRCm39) R488* probably null Het
Gm9758 A G 5: 14,962,230 (GRCm39) L126S probably damaging Het
Gse1 T C 8: 121,294,542 (GRCm39) F290L probably damaging Het
Hdgfl1 A G 13: 26,954,068 (GRCm39) S2P probably damaging Het
Hmmr G A 11: 40,612,499 (GRCm39) S206F probably damaging Het
Huwe1 A G X: 150,669,993 (GRCm39) K1482R probably benign Het
Lama2 A T 10: 27,063,869 (GRCm39) W1307R probably damaging Het
Map3k6 A G 4: 132,974,071 (GRCm39) K517E probably benign Het
Mbl1 T A 14: 40,875,555 (GRCm39) L3Q unknown Het
Mepe G T 5: 104,485,151 (GRCm39) R97L probably benign Het
Minpp1 T A 19: 32,463,747 (GRCm39) M136K possibly damaging Het
Mrgprb1 T A 7: 48,097,070 (GRCm39) I281F probably benign Het
Naip5 T C 13: 100,349,207 (GRCm39) I1374V probably benign Het
Or14j8 A G 17: 38,263,273 (GRCm39) I214T probably damaging Het
Or4c12 A G 2: 89,773,790 (GRCm39) L223S probably damaging Het
Or52e19b A T 7: 103,032,825 (GRCm39) I128N probably damaging Het
Or8g34 C T 9: 39,373,387 (GRCm39) S217F probably damaging Het
Or8g37 G T 9: 39,730,939 (GRCm39) M1I probably null Het
Pamr1 T G 2: 102,464,766 (GRCm39) V305G probably benign Het
Pcbp3 T C 10: 76,625,670 (GRCm39) T125A probably benign Het
Peli2 G A 14: 48,490,130 (GRCm39) E201K possibly damaging Het
Pitpnm3 T C 11: 71,941,894 (GRCm39) E971G possibly damaging Het
Pkdrej A G 15: 85,702,774 (GRCm39) V1054A probably damaging Het
Plcb1 G A 2: 135,175,429 (GRCm39) probably benign Het
Prpf40a T C 2: 53,042,971 (GRCm39) K480E probably damaging Het
Psd3 A G 8: 68,413,135 (GRCm39) I465T possibly damaging Het
Pskh1 C T 8: 106,656,352 (GRCm39) R343W probably damaging Het
Ptprz1 A T 6: 23,007,371 (GRCm39) T1645S probably damaging Het
Rasal1 T C 5: 120,808,416 (GRCm39) F483L probably damaging Het
Rbm28 T C 6: 29,155,023 (GRCm39) probably benign Het
Recql G A 6: 142,304,612 (GRCm39) probably benign Het
Rnf40 T C 7: 127,196,332 (GRCm39) V760A probably damaging Het
Rp1l1 A T 14: 64,268,085 (GRCm39) R1224W probably benign Het
Rpgrip1 T C 14: 52,378,056 (GRCm39) V468A probably benign Het
Ryr2 T A 13: 11,750,509 (GRCm39) I1921F possibly damaging Het
Sirpa G A 2: 129,435,558 (GRCm39) G9D unknown Het
Slc28a2b A T 2: 122,348,988 (GRCm39) T305S possibly damaging Het
Slc40a1 A C 1: 45,948,699 (GRCm39) V527G probably damaging Het
Smarca4 T A 9: 21,547,497 (GRCm39) M260K probably benign Het
Smarca5 A T 8: 81,460,379 (GRCm39) M119K probably benign Het
Smg1 A G 7: 117,758,887 (GRCm39) V2206A unknown Het
Sp4 A T 12: 118,225,624 (GRCm39) V580D possibly damaging Het
Spata31d1c G A 13: 65,182,376 (GRCm39) C75Y probably damaging Het
Sppl2b TGTCACAGGT TGT 10: 80,701,903 (GRCm39) probably null Het
Srcap T C 7: 127,152,395 (GRCm39) S2220P probably benign Het
Stra6 G T 9: 58,059,265 (GRCm39) V543F possibly damaging Het
Tenm4 T A 7: 96,523,335 (GRCm39) F1626I probably benign Het
Tjp1 T C 7: 64,952,810 (GRCm39) N1508S probably benign Het
Trrap T A 5: 144,782,348 (GRCm39) L3298Q probably damaging Het
Tsn A G 1: 118,232,470 (GRCm39) L135P probably damaging Het
Ttl A T 2: 128,910,778 (GRCm39) H54L probably damaging Het
Ttn T A 2: 76,660,251 (GRCm39) T12110S unknown Het
Uba6 T C 5: 86,296,772 (GRCm39) I306V probably null Het
Unc13d AATGCCTCCCATGCC AATGCCTCCCATGCCTCCCATGCC 11: 115,958,998 (GRCm39) probably benign Het
Ush2a A T 1: 187,995,231 (GRCm39) M1L probably benign Het
Vmn1r159 C A 7: 22,542,559 (GRCm39) V158F probably benign Het
Wif1 A G 10: 120,932,621 (GRCm39) H333R possibly damaging Het
Zfp282 T A 6: 47,881,760 (GRCm39) N482K 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
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
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'- AGAGTCTCTGAAGATGGCTGTG -3'
(R):5'- CACAGTGGCTTAAAGAGTTAGC -3'

Sequencing Primer
(F):5'- CTGTGATGAGTCTTGAAATCCCAGAC -3'
(R):5'- AGGGAGGACTTTTTATAGCACCCC -3'
Posted On 2021-04-30