Incidental Mutation 'R8899:Snrnp200'
ID 679814
Institutional Source Beutler Lab
Gene Symbol Snrnp200
Ensembl Gene ENSMUSG00000003660
Gene Name small nuclear ribonucleoprotein 200 (U5)
Synonyms Ascc3l1, A330064G03Rik, HELIC2, U5-200KD
MMRRC Submission 068756-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R8899 (G1)
Quality Score 225.009
Status Validated
Chromosome 2
Chromosomal Location 127050306-127082371 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 127078517 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 1758 (T1758A)
Ref Sequence ENSEMBL: ENSMUSP00000099509 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000003759] [ENSMUST00000103220]
AlphaFold Q6P4T2
Predicted Effect probably benign
Transcript: ENSMUST00000003759
SMART Domains Protein: ENSMUSP00000003759
Gene: ENSMUSG00000003662

DomainStartEndE-ValueType
WD40 4 44 6.73e-6 SMART
WD40 49 89 4.27e-8 SMART
WD40 94 133 5.22e-12 SMART
WD40 139 178 6.04e-8 SMART
WD40 183 222 9.22e-13 SMART
WD40 240 280 8.04e-4 SMART
WD40 291 332 5.26e-8 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000103220
AA Change: T1758A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000099509
Gene: ENSMUSG00000003660
AA Change: T1758A

DomainStartEndE-ValueType
low complexity region 65 78 N/A INTRINSIC
low complexity region 206 223 N/A INTRINSIC
low complexity region 373 386 N/A INTRINSIC
DEXDc 477 690 2.63e-30 SMART
AAA 495 680 5.77e-2 SMART
HELICc 768 860 3.76e-17 SMART
low complexity region 876 887 N/A INTRINSIC
Sec63 981 1286 2.62e-128 SMART
DEXDc 1324 1528 1.43e-31 SMART
AAA 1342 1533 2.39e0 SMART
HELICc 1607 1695 1.26e-9 SMART
Sec63 1812 2124 1.39e-118 SMART
Meta Mutation Damage Score 0.7635 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.5%
  • 20x: 98.4%
Validation Efficiency 100% (70/70)
MGI Phenotype FUNCTION: On February 19, 2002, this locus was switched from human to mouse. The source accession, Z70200.1, is almost identical to the mouse BAC clone AC074224, and it matches the mouse cDNA accession BC011390 as well. The human gene is LocusID 23020. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a transgenic gene disruption exhibit embryonic lethality before implantation. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 70 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Agxt2 A T 15: 10,378,900 (GRCm39) N167I probably damaging Het
Arel1 A G 12: 84,981,017 (GRCm39) I330T probably benign Het
Ate1 T C 7: 129,996,389 (GRCm39) K484E possibly damaging Het
Atl2 T C 17: 80,183,469 (GRCm39) D42G probably benign Het
Bltp1 T C 3: 37,042,429 (GRCm39) I2805T probably damaging Het
Cd209e C T 8: 3,901,212 (GRCm39) W147* probably null Het
Cdc40 G A 10: 40,717,809 (GRCm39) Q365* probably null Het
Cenpe A G 3: 134,945,644 (GRCm39) T1053A probably benign Het
Colgalt1 T C 8: 72,076,306 (GRCm39) S586P probably damaging Het
Crem A G 18: 3,295,370 (GRCm39) I91T probably damaging Het
Csrnp3 G A 2: 65,852,987 (GRCm39) V460I possibly damaging Het
Cul1 T A 6: 47,474,246 (GRCm39) I136N possibly damaging Het
Ddx19b A T 8: 111,737,929 (GRCm39) I273N probably damaging Het
Fap A G 2: 62,348,817 (GRCm39) I505T probably damaging Het
Fbxo44 A T 4: 148,238,078 (GRCm39) Y216* probably null Het
Fbxw10 T A 11: 62,748,567 (GRCm39) M398K probably damaging Het
Fut10 T C 8: 31,726,514 (GRCm39) V423A possibly damaging Het
Fyco1 A C 9: 123,655,646 (GRCm39) D1037E probably benign Het
Gabrg2 G A 11: 41,867,377 (GRCm39) R81* probably null Het
Gcn1 T C 5: 115,717,220 (GRCm39) V204A probably benign Het
Gnl1 T C 17: 36,299,608 (GRCm39) L593P probably damaging Het
Grm4 T C 17: 27,653,754 (GRCm39) Q732R probably damaging Het
Icam5 T C 9: 20,948,415 (GRCm39) V741A possibly damaging Het
Iqub C T 6: 24,505,768 (GRCm39) E47K probably benign Het
Kcnk3 A G 5: 30,779,580 (GRCm39) K210R probably benign Het
Kdm2b T A 5: 123,125,851 (GRCm39) R12* probably null Het
Kifbp T C 10: 62,399,282 (GRCm39) probably benign Het
Kndc1 C T 7: 139,507,708 (GRCm39) S1222F possibly damaging Het
Lgi1 C T 19: 38,294,538 (GRCm39) H413Y probably damaging Het
Lhx8 A G 3: 154,033,653 (GRCm39) Y51H probably damaging Het
Lim2 T C 7: 43,083,055 (GRCm39) I80T probably benign Het
Macf1 A G 4: 123,368,852 (GRCm39) F405L probably benign Het
Mefv G A 16: 3,528,764 (GRCm39) T559I probably damaging Het
Nin A G 12: 70,077,710 (GRCm39) W1739R probably damaging Het
Or10h1 A T 17: 33,418,718 (GRCm39) K232M probably damaging Het
Or11j4 T C 14: 50,630,269 (GRCm39) F19L probably damaging Het
Or5t16 A G 2: 86,818,710 (GRCm39) I270T probably benign Het
Or8b3b C T 9: 38,584,147 (GRCm39) V198I probably damaging Het
Otop3 T C 11: 115,231,886 (GRCm39) probably null Het
Pate9 A T 9: 36,446,254 (GRCm39) C53S probably damaging Het
Pip5kl1 A G 2: 32,469,082 (GRCm39) I247V probably benign Het
Polr2d T A 18: 31,922,226 (GRCm39) M1K probably null Het
Prss53 T C 7: 127,488,193 (GRCm39) T141A possibly damaging Het
Rdh12 A G 12: 79,268,802 (GRCm39) N293S probably benign Het
Rnf146 G A 10: 29,223,754 (GRCm39) T44I probably benign Het
Rsbn1l A T 5: 21,101,865 (GRCm39) C588S probably damaging Het
Septin8 G A 11: 53,426,862 (GRCm39) V208I probably damaging Het
Sgo2a T G 1: 58,058,822 (GRCm39) S1134A possibly damaging Het
Sh3bp4 C T 1: 89,073,297 (GRCm39) T715I probably benign Het
Snx6 A T 12: 54,812,423 (GRCm39) D70E probably benign Het
Spag9 T C 11: 93,983,695 (GRCm39) S341P probably damaging Het
Sparcl1 T C 5: 104,240,590 (GRCm39) D278G probably benign Het
Spmap2l T A 5: 77,185,200 (GRCm39) probably null Het
Srbd1 T A 17: 86,292,885 (GRCm39) S895C Het
Stxbp5l ATTTT ATTTTT 16: 37,036,414 (GRCm39) probably null Het
Tas2r136 T C 6: 132,754,323 (GRCm39) D268G probably benign Het
Tas2r143 T A 6: 42,377,888 (GRCm39) Y239* probably null Het
Tbc1d17 C T 7: 44,492,328 (GRCm39) G419D probably damaging Het
Tff2 C T 17: 31,362,113 (GRCm39) W68* probably null Het
Thop1 T C 10: 80,916,440 (GRCm39) C483R probably damaging Het
Tmem245 A C 4: 56,903,916 (GRCm39) probably null Het
Tmem67 A G 4: 12,055,038 (GRCm39) F655S probably damaging Het
Trim36 T G 18: 46,302,264 (GRCm39) S583R possibly damaging Het
Ucp1 T C 8: 84,017,216 (GRCm39) V2A probably benign Het
Ugt1a6a T A 1: 88,066,803 (GRCm39) M203K probably damaging Het
Usp1 A G 4: 98,819,347 (GRCm39) K270E probably damaging Het
Vps13c T C 9: 67,841,783 (GRCm39) F1935S probably damaging Het
Zfp521 C A 18: 13,979,137 (GRCm39) L425F probably damaging Het
Zfp799 G T 17: 33,039,348 (GRCm39) P306Q probably damaging Het
Zfp831 A T 2: 174,485,978 (GRCm39) R218W probably damaging Het
Other mutations in Snrnp200
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00482:Snrnp200 APN 2 127,072,055 (GRCm39) missense possibly damaging 0.80
IGL01013:Snrnp200 APN 2 127,074,392 (GRCm39) missense probably damaging 1.00
IGL01073:Snrnp200 APN 2 127,056,832 (GRCm39) splice site probably benign
IGL01319:Snrnp200 APN 2 127,072,047 (GRCm39) splice site probably benign
IGL01597:Snrnp200 APN 2 127,080,652 (GRCm39) unclassified probably benign
IGL01631:Snrnp200 APN 2 127,080,744 (GRCm39) unclassified probably benign
IGL01646:Snrnp200 APN 2 127,064,148 (GRCm39) missense probably benign 0.00
IGL02019:Snrnp200 APN 2 127,074,825 (GRCm39) missense possibly damaging 0.94
IGL02158:Snrnp200 APN 2 127,079,403 (GRCm39) missense probably benign 0.05
IGL02269:Snrnp200 APN 2 127,071,911 (GRCm39) missense possibly damaging 0.67
IGL02288:Snrnp200 APN 2 127,071,815 (GRCm39) missense probably damaging 1.00
IGL02437:Snrnp200 APN 2 127,058,030 (GRCm39) missense probably damaging 1.00
IGL02476:Snrnp200 APN 2 127,059,408 (GRCm39) missense probably benign 0.41
IGL02613:Snrnp200 APN 2 127,060,346 (GRCm39) missense probably damaging 0.98
IGL02898:Snrnp200 APN 2 127,058,676 (GRCm39) splice site probably benign
IGL03108:Snrnp200 APN 2 127,080,087 (GRCm39) missense possibly damaging 0.82
IGL03143:Snrnp200 APN 2 127,071,962 (GRCm39) critical splice donor site probably benign
IGL03237:Snrnp200 APN 2 127,075,233 (GRCm39) missense probably damaging 0.99
R0012:Snrnp200 UTSW 2 127,070,469 (GRCm39) missense probably benign 0.35
R0012:Snrnp200 UTSW 2 127,070,469 (GRCm39) missense probably benign 0.35
R0033:Snrnp200 UTSW 2 127,079,983 (GRCm39) missense probably damaging 0.97
R0033:Snrnp200 UTSW 2 127,079,983 (GRCm39) missense probably damaging 0.97
R0047:Snrnp200 UTSW 2 127,076,874 (GRCm39) splice site probably benign
R0047:Snrnp200 UTSW 2 127,076,874 (GRCm39) splice site probably benign
R0057:Snrnp200 UTSW 2 127,079,827 (GRCm39) missense probably damaging 0.96
R0270:Snrnp200 UTSW 2 127,074,902 (GRCm39) missense probably damaging 0.97
R0626:Snrnp200 UTSW 2 127,063,734 (GRCm39) missense possibly damaging 0.46
R0731:Snrnp200 UTSW 2 127,068,065 (GRCm39) splice site probably benign
R1175:Snrnp200 UTSW 2 127,070,997 (GRCm39) missense probably damaging 1.00
R1184:Snrnp200 UTSW 2 127,078,737 (GRCm39) missense probably damaging 1.00
R1383:Snrnp200 UTSW 2 127,060,331 (GRCm39) missense probably benign 0.10
R1444:Snrnp200 UTSW 2 127,070,158 (GRCm39) splice site probably benign
R1757:Snrnp200 UTSW 2 127,074,363 (GRCm39) missense probably damaging 1.00
R1794:Snrnp200 UTSW 2 127,058,656 (GRCm39) missense probably benign
R1808:Snrnp200 UTSW 2 127,060,948 (GRCm39) critical splice acceptor site probably null
R1808:Snrnp200 UTSW 2 127,060,947 (GRCm39) critical splice acceptor site probably null
R1957:Snrnp200 UTSW 2 127,058,095 (GRCm39) missense possibly damaging 0.69
R2007:Snrnp200 UTSW 2 127,068,968 (GRCm39) missense probably damaging 1.00
R2039:Snrnp200 UTSW 2 127,076,904 (GRCm39) missense probably benign 0.19
R2070:Snrnp200 UTSW 2 127,079,803 (GRCm39) missense probably benign 0.00
R2070:Snrnp200 UTSW 2 127,054,323 (GRCm39) missense possibly damaging 0.89
R2892:Snrnp200 UTSW 2 127,073,697 (GRCm39) missense probably damaging 0.99
R3236:Snrnp200 UTSW 2 127,063,802 (GRCm39) missense probably damaging 1.00
R3862:Snrnp200 UTSW 2 127,075,019 (GRCm39) splice site probably benign
R4028:Snrnp200 UTSW 2 127,079,486 (GRCm39) missense probably damaging 0.99
R4105:Snrnp200 UTSW 2 127,069,936 (GRCm39) missense probably damaging 1.00
R4328:Snrnp200 UTSW 2 127,064,137 (GRCm39) missense probably damaging 0.99
R4471:Snrnp200 UTSW 2 127,080,673 (GRCm39) missense probably benign 0.03
R4526:Snrnp200 UTSW 2 127,071,022 (GRCm39) missense probably benign
R4575:Snrnp200 UTSW 2 127,076,986 (GRCm39) missense probably benign 0.00
R4710:Snrnp200 UTSW 2 127,068,053 (GRCm39) missense probably damaging 1.00
R4728:Snrnp200 UTSW 2 127,069,798 (GRCm39) missense possibly damaging 0.89
R4728:Snrnp200 UTSW 2 127,059,334 (GRCm39) missense probably damaging 1.00
R4729:Snrnp200 UTSW 2 127,074,857 (GRCm39) missense probably damaging 0.99
R4828:Snrnp200 UTSW 2 127,053,527 (GRCm39) missense probably damaging 0.99
R5082:Snrnp200 UTSW 2 127,068,290 (GRCm39) nonsense probably null
R5213:Snrnp200 UTSW 2 127,073,661 (GRCm39) missense probably damaging 1.00
R5287:Snrnp200 UTSW 2 127,073,607 (GRCm39) missense probably benign 0.13
R5486:Snrnp200 UTSW 2 127,074,986 (GRCm39) missense possibly damaging 0.82
R5595:Snrnp200 UTSW 2 127,067,933 (GRCm39) missense probably damaging 0.99
R5598:Snrnp200 UTSW 2 127,068,007 (GRCm39) missense possibly damaging 0.64
R5681:Snrnp200 UTSW 2 127,067,055 (GRCm39) missense probably damaging 1.00
R6207:Snrnp200 UTSW 2 127,052,655 (GRCm39) missense probably benign 0.00
R6258:Snrnp200 UTSW 2 127,060,343 (GRCm39) missense possibly damaging 0.60
R6259:Snrnp200 UTSW 2 127,060,343 (GRCm39) missense possibly damaging 0.60
R6299:Snrnp200 UTSW 2 127,064,081 (GRCm39) nonsense probably null
R6434:Snrnp200 UTSW 2 127,080,574 (GRCm39) missense probably damaging 1.00
R6522:Snrnp200 UTSW 2 127,063,747 (GRCm39) missense probably benign 0.12
R6647:Snrnp200 UTSW 2 127,068,372 (GRCm39) missense probably damaging 1.00
R6785:Snrnp200 UTSW 2 127,071,085 (GRCm39) missense possibly damaging 0.70
R7027:Snrnp200 UTSW 2 127,059,192 (GRCm39) missense probably benign 0.09
R7358:Snrnp200 UTSW 2 127,063,746 (GRCm39) missense probably benign 0.03
R7436:Snrnp200 UTSW 2 127,068,404 (GRCm39) critical splice donor site probably null
R7587:Snrnp200 UTSW 2 127,069,822 (GRCm39) missense probably damaging 1.00
R7672:Snrnp200 UTSW 2 127,063,822 (GRCm39) missense probably damaging 1.00
R7731:Snrnp200 UTSW 2 127,071,022 (GRCm39) missense probably benign
R7841:Snrnp200 UTSW 2 127,078,754 (GRCm39) missense probably benign 0.23
R7863:Snrnp200 UTSW 2 127,073,609 (GRCm39) missense probably damaging 1.00
R7916:Snrnp200 UTSW 2 127,074,979 (GRCm39) missense possibly damaging 0.51
R8117:Snrnp200 UTSW 2 127,071,051 (GRCm39) missense probably benign
R8262:Snrnp200 UTSW 2 127,068,928 (GRCm39) missense probably damaging 1.00
R8551:Snrnp200 UTSW 2 127,068,971 (GRCm39) missense probably benign 0.03
R8675:Snrnp200 UTSW 2 127,074,443 (GRCm39) missense possibly damaging 0.94
R8754:Snrnp200 UTSW 2 127,068,005 (GRCm39) missense probably damaging 1.00
R8852:Snrnp200 UTSW 2 127,060,349 (GRCm39) missense probably damaging 0.99
R8937:Snrnp200 UTSW 2 127,068,902 (GRCm39) missense probably benign 0.04
R9030:Snrnp200 UTSW 2 127,053,466 (GRCm39) intron probably benign
R9260:Snrnp200 UTSW 2 127,078,428 (GRCm39) missense probably damaging 1.00
R9366:Snrnp200 UTSW 2 127,058,010 (GRCm39) missense probably benign 0.01
R9385:Snrnp200 UTSW 2 127,079,978 (GRCm39) critical splice acceptor site probably null
R9478:Snrnp200 UTSW 2 127,076,993 (GRCm39) critical splice donor site probably null
R9652:Snrnp200 UTSW 2 127,067,959 (GRCm39) missense probably damaging 1.00
R9653:Snrnp200 UTSW 2 127,067,959 (GRCm39) missense probably damaging 1.00
R9733:Snrnp200 UTSW 2 127,068,240 (GRCm39) missense probably damaging 1.00
RF016:Snrnp200 UTSW 2 127,072,476 (GRCm39) missense probably damaging 1.00
Z1176:Snrnp200 UTSW 2 127,076,895 (GRCm39) missense probably benign 0.10
Z1177:Snrnp200 UTSW 2 127,077,951 (GRCm39) missense probably benign 0.04
Predicted Primers PCR Primer
(F):5'- TGATGGATTGCCCTTGACCC -3'
(R):5'- TGATGCATTTGGACTGCTCC -3'

Sequencing Primer
(F):5'- ATGGATTGCCCTTGACCCTTTATTAC -3'
(R):5'- AGGTCACTGAGGGTCTGCTC -3'
Posted On 2021-08-31