Incidental Mutation 'R2271:U2surp'
ID 242485
Institutional Source Beutler Lab
Gene Symbol U2surp
Ensembl Gene ENSMUSG00000032407
Gene Name U2 snRNP-associated SURP domain containing
Synonyms 2610101N10Rik
MMRRC Submission 040271-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.956) question?
Stock # R2271 (G1)
Quality Score 225
Status Not validated
Chromosome 9
Chromosomal Location 95338951-95394049 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 95373473 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 232 (E232G)
Ref Sequence ENSEMBL: ENSMUSP00000151121 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000078374] [ENSMUST00000079659] [ENSMUST00000191213] [ENSMUST00000217176]
AlphaFold Q6NV83
Predicted Effect probably benign
Transcript: ENSMUST00000078374
AA Change: E188G

PolyPhen 2 Score 0.026 (Sensitivity: 0.95; Specificity: 0.81)
SMART Domains Protein: ENSMUSP00000077482
Gene: ENSMUSG00000032407
AA Change: E188G

DomainStartEndE-ValueType
low complexity region 18 27 N/A INTRINSIC
low complexity region 54 75 N/A INTRINSIC
coiled coil region 148 186 N/A INTRINSIC
RRM 231 307 1.85e-18 SMART
low complexity region 313 323 N/A INTRINSIC
SWAP 384 438 1.07e-20 SMART
RPR 493 632 1.42e-41 SMART
internal_repeat_1 648 665 6.09e-7 PROSPERO
internal_repeat_1 678 698 6.09e-7 PROSPERO
coiled coil region 742 769 N/A INTRINSIC
cwf21 792 843 6.31e-17 SMART
low complexity region 881 933 N/A INTRINSIC
low complexity region 939 985 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000079659
AA Change: E232G

PolyPhen 2 Score 0.804 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000078602
Gene: ENSMUSG00000032407
AA Change: E232G

DomainStartEndE-ValueType
low complexity region 18 27 N/A INTRINSIC
low complexity region 98 119 N/A INTRINSIC
coiled coil region 192 230 N/A INTRINSIC
RRM 275 351 1.85e-18 SMART
low complexity region 357 367 N/A INTRINSIC
SWAP 428 482 1.07e-20 SMART
RPR 537 676 1.42e-41 SMART
internal_repeat_1 692 709 1.14e-6 PROSPERO
internal_repeat_1 722 742 1.14e-6 PROSPERO
coiled coil region 786 813 N/A INTRINSIC
cwf21 836 887 6.31e-17 SMART
low complexity region 925 977 N/A INTRINSIC
low complexity region 983 1029 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000185515
Predicted Effect probably benign
Transcript: ENSMUST00000190019
Predicted Effect probably benign
Transcript: ENSMUST00000191213
AA Change: E232G

PolyPhen 2 Score 0.192 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000140614
Gene: ENSMUSG00000032407
AA Change: E232G

DomainStartEndE-ValueType
low complexity region 18 27 N/A INTRINSIC
low complexity region 98 119 N/A INTRINSIC
coiled coil region 192 230 N/A INTRINSIC
RRM 275 351 7.8e-21 SMART
low complexity region 357 367 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000217176
AA Change: E232G

PolyPhen 2 Score 0.804 (Sensitivity: 0.84; Specificity: 0.93)
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.1%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 82 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2310057J18Rik T A 10: 28,857,575 (GRCm39) Q194L probably damaging Het
Acsf2 T A 11: 94,449,699 (GRCm39) K574* probably null Het
Adam22 T C 5: 8,171,108 (GRCm39) E614G probably damaging Het
Ap4e1 T C 2: 126,889,083 (GRCm39) probably null Het
Arid3c T A 4: 41,724,744 (GRCm39) I364F probably damaging Het
Bcan T A 3: 87,900,401 (GRCm39) S611C probably damaging Het
Birc6 T C 17: 74,909,966 (GRCm39) V1453A probably benign Het
Carnmt1 T C 19: 18,680,734 (GRCm39) L336P probably damaging Het
Ccdc146 C A 5: 21,604,719 (GRCm39) D40Y probably benign Het
Ccdc83 C T 7: 89,873,285 (GRCm39) V357I probably damaging Het
Cdh22 A T 2: 164,985,767 (GRCm39) probably null Het
Cdk5rap2 A C 4: 70,184,915 (GRCm39) S1178R probably benign Het
Cdkl3 T C 11: 51,923,322 (GRCm39) V45A probably benign Het
Chd7 A G 4: 8,785,532 (GRCm39) D612G probably damaging Het
Chst11 T C 10: 83,027,004 (GRCm39) Y144H probably damaging Het
Cops6 A T 5: 138,159,403 (GRCm39) N10I probably benign Het
Cyfip1 G T 7: 55,549,705 (GRCm39) R624L probably null Het
Cyp27a1 A G 1: 74,775,846 (GRCm39) N344D probably damaging Het
Des T G 1: 75,340,137 (GRCm39) M348R probably damaging Het
Dis3l T A 9: 64,238,165 (GRCm39) D109V probably damaging Het
Disp3 C T 4: 148,356,059 (GRCm39) R267Q possibly damaging Het
Dnah3 T A 7: 119,574,352 (GRCm39) I2136F probably benign Het
Dnah9 T C 11: 66,003,188 (GRCm39) D872G probably benign Het
Dnajb14 G A 3: 137,591,141 (GRCm39) G31S probably benign Het
Dop1a T G 9: 86,376,471 (GRCm39) V235G probably damaging Het
Efcab6 T A 15: 83,831,200 (GRCm39) R571S probably benign Het
Emsy T G 7: 98,275,830 (GRCm39) K352N probably damaging Het
Erbb4 T C 1: 68,238,047 (GRCm39) N814S probably damaging Het
Fgfbp1 T A 5: 44,136,672 (GRCm39) M207L probably benign Het
Filip1 T C 9: 79,727,212 (GRCm39) E469G probably damaging Het
Garem2 T G 5: 30,321,972 (GRCm39) L777R probably damaging Het
Garin5b T A 7: 4,761,186 (GRCm39) T509S probably benign Het
Hkdc1 T C 10: 62,253,677 (GRCm39) T35A probably benign Het
Hps6 C T 19: 45,994,121 (GRCm39) A686V possibly damaging Het
Irs1 T C 1: 82,266,180 (GRCm39) S679G probably benign Het
Ism1 T A 2: 139,599,293 (GRCm39) I415N probably damaging Het
Kdm1b TCATTGTCC TCATTGTCCATTGTCC 13: 47,217,564 (GRCm39) probably null Het
Kpna1 G A 16: 35,851,591 (GRCm39) A392T probably damaging Het
Lipa T A 19: 34,488,290 (GRCm39) R119* probably null Het
Lrrc37 T C 11: 103,505,033 (GRCm39) T2312A possibly damaging Het
Mocs1 A T 17: 49,756,137 (GRCm39) K198M probably damaging Het
Mrc2 G A 11: 105,239,257 (GRCm39) probably null Het
Msh5 A G 17: 35,263,366 (GRCm39) I154T probably benign Het
Muc6 T A 7: 141,217,423 (GRCm39) T2417S possibly damaging Het
Ncbp2 T C 16: 31,775,769 (GRCm39) Y138H probably damaging Het
Ndufv1 C A 19: 4,058,347 (GRCm39) R359L probably benign Het
Neu3 G C 7: 99,462,650 (GRCm39) R358G probably benign Het
Ntrk3 A C 7: 78,166,471 (GRCm39) probably null Het
Or1n1 G A 2: 36,749,637 (GRCm39) S241F probably damaging Het
Or8b12i T A 9: 20,082,705 (GRCm39) H54L possibly damaging Het
Or8j3 A G 2: 86,028,161 (GRCm39) F312L probably benign Het
Pik3c2b T C 1: 133,031,166 (GRCm39) S1491P probably benign Het
Plb1 G T 5: 32,450,586 (GRCm39) D376Y probably damaging Het
Plch1 T A 3: 63,651,956 (GRCm39) K378N probably damaging Het
Plekhm1 C T 11: 103,277,948 (GRCm39) E383K probably benign Het
Plxnb1 T C 9: 108,931,776 (GRCm39) probably null Het
Prkdc A G 16: 15,472,681 (GRCm39) probably null Het
Prpf8 T A 11: 75,386,189 (GRCm39) V946E probably damaging Het
Psma5-ps A G 10: 85,149,595 (GRCm39) noncoding transcript Het
Ptprh C A 7: 4,606,132 (GRCm39) probably benign Het
Rngtt T A 4: 33,500,302 (GRCm39) C565* probably null Het
Sacs A G 14: 61,442,109 (GRCm39) H1385R probably benign Het
Sec24a A G 11: 51,607,277 (GRCm39) S656P possibly damaging Het
Serpinb13 A T 1: 106,926,756 (GRCm39) I251L possibly damaging Het
Shc1 G A 3: 89,330,849 (GRCm39) G91S probably damaging Het
Sin3b T A 8: 73,460,047 (GRCm39) N211K probably benign Het
Slc22a2 A T 17: 12,805,692 (GRCm39) M148L probably benign Het
Slc3a1 G A 17: 85,371,220 (GRCm39) V591I probably benign Het
Slc47a2 A T 11: 61,219,352 (GRCm39) probably null Het
Spag17 C T 3: 100,014,113 (GRCm39) P2129S probably damaging Het
Specc1l C T 10: 75,081,438 (GRCm39) S278F probably damaging Het
Sphkap T A 1: 83,234,942 (GRCm39) D1628V probably damaging Het
Themis3 C T 17: 66,862,699 (GRCm39) V420I possibly damaging Het
Ttc39d A G 17: 80,524,675 (GRCm39) K445E probably damaging Het
Usp25 T A 16: 76,873,317 (GRCm39) F458L probably damaging Het
Usp7 T C 16: 8,516,333 (GRCm39) S649G probably benign Het
Vmn1r10 A G 6: 57,091,088 (GRCm39) T227A probably damaging Het
Zcchc12 C T X: 35,462,118 (GRCm39) T345M possibly damaging Het
Zfp444 T C 7: 6,192,554 (GRCm39) C191R probably damaging Het
Zfp729b A T 13: 67,740,352 (GRCm39) C648S probably damaging Het
Zfp799 A G 17: 33,040,777 (GRCm39) Y58H probably damaging Het
Zfp938 C T 10: 82,061,381 (GRCm39) G413D probably damaging Het
Other mutations in U2surp
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00583:U2surp APN 9 95,343,577 (GRCm39) utr 3 prime probably benign
IGL01122:U2surp APN 9 95,372,287 (GRCm39) missense probably benign 0.02
IGL01985:U2surp APN 9 95,372,279 (GRCm39) missense probably damaging 1.00
IGL01992:U2surp APN 9 95,364,234 (GRCm39) missense probably damaging 0.99
IGL01992:U2surp APN 9 95,346,472 (GRCm39) missense possibly damaging 0.46
IGL02300:U2surp APN 9 95,370,823 (GRCm39) missense probably damaging 1.00
IGL02491:U2surp APN 9 95,372,273 (GRCm39) missense probably damaging 0.98
IGL02503:U2surp APN 9 95,384,622 (GRCm39) missense probably benign 0.03
IGL02615:U2surp APN 9 95,375,284 (GRCm39) missense probably benign 0.00
IGL02628:U2surp APN 9 95,354,143 (GRCm39) missense possibly damaging 0.89
IGL02682:U2surp APN 9 95,363,704 (GRCm39) critical splice donor site probably null
IGL02721:U2surp APN 9 95,356,488 (GRCm39) missense probably benign 0.10
IGL03200:U2surp APN 9 95,373,444 (GRCm39) nonsense probably null
coup UTSW 9 95,359,565 (GRCm39) missense probably damaging 1.00
R0095:U2surp UTSW 9 95,382,737 (GRCm39) splice site probably null
R0373:U2surp UTSW 9 95,366,496 (GRCm39) missense probably benign 0.08
R0376:U2surp UTSW 9 95,366,496 (GRCm39) missense probably benign 0.08
R0377:U2surp UTSW 9 95,366,496 (GRCm39) missense probably benign 0.08
R0416:U2surp UTSW 9 95,367,660 (GRCm39) missense probably damaging 1.00
R0682:U2surp UTSW 9 95,366,496 (GRCm39) missense probably benign 0.08
R0948:U2surp UTSW 9 95,343,550 (GRCm39) utr 3 prime probably benign
R1420:U2surp UTSW 9 95,344,856 (GRCm39) missense probably benign 0.33
R1474:U2surp UTSW 9 95,375,251 (GRCm39) missense possibly damaging 0.49
R1555:U2surp UTSW 9 95,348,630 (GRCm39) missense probably damaging 1.00
R1597:U2surp UTSW 9 95,363,793 (GRCm39) splice site probably benign
R1638:U2surp UTSW 9 95,366,280 (GRCm39) missense possibly damaging 0.95
R1693:U2surp UTSW 9 95,393,913 (GRCm39) start codon destroyed probably null 0.53
R1851:U2surp UTSW 9 95,364,150 (GRCm39) nonsense probably null
R2679:U2surp UTSW 9 95,358,285 (GRCm39) missense possibly damaging 0.82
R2851:U2surp UTSW 9 95,382,735 (GRCm39) splice site probably null
R3769:U2surp UTSW 9 95,375,750 (GRCm39) splice site probably benign
R4596:U2surp UTSW 9 95,367,681 (GRCm39) missense probably damaging 1.00
R4672:U2surp UTSW 9 95,375,198 (GRCm39) missense possibly damaging 0.83
R4763:U2surp UTSW 9 95,393,844 (GRCm39) intron probably benign
R4995:U2surp UTSW 9 95,344,847 (GRCm39) utr 3 prime probably benign
R5805:U2surp UTSW 9 95,361,357 (GRCm39) missense possibly damaging 0.51
R6006:U2surp UTSW 9 95,361,360 (GRCm39) missense probably damaging 0.96
R6249:U2surp UTSW 9 95,382,869 (GRCm39) missense probably benign 0.07
R6260:U2surp UTSW 9 95,358,210 (GRCm39) missense probably damaging 0.99
R6378:U2surp UTSW 9 95,373,474 (GRCm39) missense probably benign 0.41
R6487:U2surp UTSW 9 95,359,565 (GRCm39) missense probably damaging 1.00
R6585:U2surp UTSW 9 95,354,124 (GRCm39) missense probably damaging 1.00
R6721:U2surp UTSW 9 95,373,157 (GRCm39) missense probably damaging 0.99
R6760:U2surp UTSW 9 95,375,764 (GRCm39) missense probably benign 0.27
R7065:U2surp UTSW 9 95,367,712 (GRCm39) missense probably benign 0.01
R7167:U2surp UTSW 9 95,363,726 (GRCm39) missense probably damaging 0.98
R7219:U2surp UTSW 9 95,372,215 (GRCm39) nonsense probably null
R7232:U2surp UTSW 9 95,375,770 (GRCm39) missense probably benign 0.03
R7460:U2surp UTSW 9 95,344,877 (GRCm39) missense unknown
R7547:U2surp UTSW 9 95,361,402 (GRCm39) missense possibly damaging 0.94
R7609:U2surp UTSW 9 95,367,732 (GRCm39) splice site probably null
R7761:U2surp UTSW 9 95,370,814 (GRCm39) missense probably damaging 1.00
R8520:U2surp UTSW 9 95,384,607 (GRCm39) missense possibly damaging 0.88
R9059:U2surp UTSW 9 95,363,716 (GRCm39) missense probably damaging 1.00
R9065:U2surp UTSW 9 95,359,563 (GRCm39) missense probably benign
R9124:U2surp UTSW 9 95,346,468 (GRCm39) nonsense probably null
R9266:U2surp UTSW 9 95,366,468 (GRCm39) missense probably damaging 1.00
R9488:U2surp UTSW 9 95,356,535 (GRCm39) missense
X0018:U2surp UTSW 9 95,367,650 (GRCm39) missense probably damaging 0.98
X0018:U2surp UTSW 9 95,357,341 (GRCm39) missense probably benign 0.14
Predicted Primers PCR Primer
(F):5'- CCCTGCGAAATACAAAGTTGAG -3'
(R):5'- GAGGGGCTCACTAATCTTGG -3'

Sequencing Primer
(F):5'- GCGAAATACAAAGTTGAGACAATTCC -3'
(R):5'- GTAACTTGTGGTGTACTCTTAG -3'
Posted On 2014-10-16