Incidental Mutation 'R8754:Snrnp200'
ID 664015
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 068620-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R8754 (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 127068005 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Cysteine at position 834 (Y834C)
Ref Sequence ENSEMBL: ENSMUSP00000099509 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000103220]
AlphaFold Q6P4T2
Predicted Effect probably damaging
Transcript: ENSMUST00000103220
AA Change: Y834C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000099509
Gene: ENSMUSG00000003660
AA Change: Y834C

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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.3%
  • 20x: 97.5%
Validation Efficiency 100% (67/67)
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
1110002E22Rik T C 3: 137,771,798 (GRCm39) V329A probably benign Het
A830018L16Rik G T 1: 11,615,472 (GRCm39) K148N probably benign Het
Actn3 A G 19: 4,913,488 (GRCm39) F648L probably damaging Het
Amotl2 A G 9: 102,597,358 (GRCm39) D39G possibly damaging Het
Anks1 C A 17: 28,214,984 (GRCm39) T477K possibly damaging Het
Brix1 A T 15: 10,476,664 (GRCm39) S271T probably benign Het
Ccdc88b T C 19: 6,833,213 (GRCm39) E278G probably damaging Het
Cdc40 C T 10: 40,717,480 (GRCm39) D404N probably damaging Het
Chrna6 T C 8: 27,897,229 (GRCm39) H216R probably damaging Het
Col6a3 C G 1: 90,695,328 (GRCm39) probably benign Het
Copa C T 1: 171,935,926 (GRCm39) R423W probably damaging Het
Cttnbp2 A C 6: 18,434,037 (GRCm39) I607R possibly damaging Het
Depdc5 A T 5: 33,136,881 (GRCm39) T1384S probably benign Het
Dlat G T 9: 50,560,967 (GRCm39) A360E probably damaging Het
Dusp26 C T 8: 31,581,805 (GRCm39) probably benign Het
Eif1ad13 T A 12: 87,762,569 (GRCm39) N96K possibly damaging Het
Fam135a G A 1: 24,067,569 (GRCm39) T1100M probably benign Het
Fuca1 T C 4: 135,652,889 (GRCm39) L171P probably damaging Het
Gpr158 G A 2: 21,581,693 (GRCm39) V391I probably benign Het
Gtf2h5 C CA 17: 6,134,833 (GRCm39) probably null Het
Heatr1 T A 13: 12,428,175 (GRCm39) Y771N probably damaging Het
Il17ra A G 6: 120,458,417 (GRCm39) T523A probably benign Het
Kcnv1 G A 15: 44,977,865 (GRCm39) Q58* probably null Het
Kdm5d T C Y: 941,594 (GRCm39) V1265A probably damaging Het
Kifc3 A T 8: 95,829,024 (GRCm39) L726Q probably damaging Het
Klk1b21 T A 7: 43,755,912 (GRCm39) I247N probably benign Het
Kntc1 T A 5: 123,897,115 (GRCm39) N159K probably benign Het
Krtap4-7 G T 11: 99,534,667 (GRCm39) C65* probably null Het
Lama2 C T 10: 26,877,147 (GRCm39) V2680M possibly damaging Het
Lipe T A 7: 25,088,007 (GRCm39) M61L probably benign Het
Med17 A G 9: 15,188,896 (GRCm39) M123T possibly damaging Het
Mrpl37 T C 4: 106,921,611 (GRCm39) N206S probably benign Het
Muc4 A T 16: 32,602,356 (GRCm39) N1390Y Het
Muc5ac C T 7: 141,354,008 (GRCm39) A869V possibly damaging Het
Nckap5l A G 15: 99,327,290 (GRCm39) V133A probably benign Het
Nin A T 12: 70,077,787 (GRCm39) probably benign Het
Nr1h2 C T 7: 44,200,768 (GRCm39) A287T probably damaging Het
Or8c16 A T 9: 38,130,865 (GRCm39) I246L possibly damaging Het
Patl1 A G 19: 11,899,898 (GRCm39) E230G probably damaging Het
Pbxip1 T C 3: 89,355,235 (GRCm39) S585P probably damaging Het
Pde3b T A 7: 114,015,278 (GRCm39) W165R possibly damaging Het
Pdia4 A C 6: 47,773,464 (GRCm39) D628E probably benign Het
Pigo T A 4: 43,024,724 (GRCm39) H125L probably benign Het
Platr25 A T 13: 62,847,924 (GRCm39) *313K probably null Het
Plxdc1 A T 11: 97,846,337 (GRCm39) M169K possibly damaging Het
Pxk T C 14: 8,151,496 (GRCm38) I437T probably damaging Het
Rlf T C 4: 121,004,010 (GRCm39) T1767A possibly damaging Het
Rnf123 T A 9: 107,948,363 (GRCm39) D110V probably damaging Het
Rnf185 A T 11: 3,368,052 (GRCm39) F209I probably benign Het
Rpl4 A T 9: 64,082,242 (GRCm39) N47I probably damaging Het
Rsl1d1 A T 16: 11,017,512 (GRCm39) F151L probably damaging Het
Sema3d T C 5: 12,603,191 (GRCm39) probably null Het
Serhl A G 15: 82,986,126 (GRCm39) N80D probably benign Het
Sh3tc1 C A 5: 35,863,802 (GRCm39) R795L probably benign Het
Slc2a12 A T 10: 22,521,116 (GRCm39) T7S probably benign Het
Ss18 G C 18: 14,774,016 (GRCm39) Q258E probably damaging Het
Telo2 G A 17: 25,321,041 (GRCm39) L725F probably damaging Het
Tnxb A G 17: 34,934,882 (GRCm39) E2497G probably damaging Het
Tox2 A G 2: 163,163,360 (GRCm39) D111G Het
Trim16 G A 11: 62,731,763 (GRCm39) E545K probably benign Het
Trpm7 A G 2: 126,664,623 (GRCm39) W919R probably damaging Het
Ttbk1 G T 17: 46,756,127 (GRCm39) S1301* probably null Het
Txk T C 5: 72,889,122 (GRCm39) N144S probably damaging Het
Ubqln4 T A 3: 88,473,090 (GRCm39) V515E probably benign Het
Ush2a C T 1: 188,581,162 (GRCm39) R3681* probably null Het
Ythdf3 A T 3: 16,258,138 (GRCm39) N106I probably damaging Het
Zfp367 A T 13: 64,292,069 (GRCm39) C187* probably null Het
Zfp735 A G 11: 73,603,000 (GRCm39) D648G possibly damaging Het
Zic1 T C 9: 91,244,701 (GRCm39) probably benign Het
Zik1 A G 7: 10,223,826 (GRCm39) S424P 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
R8852:Snrnp200 UTSW 2 127,060,349 (GRCm39) missense probably damaging 0.99
R8899:Snrnp200 UTSW 2 127,078,517 (GRCm39) missense probably damaging 1.00
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'- TGCTCCAGTGTCACATTGAGTAC -3'
(R):5'- TATGGCAACGCTTTTGACTCAAC -3'

Sequencing Primer
(F):5'- GTACTGAAATATACATCCACTCCTGC -3'
(R):5'- GCAACGCTTTTGACTCAACAAGTTAC -3'
Posted On 2021-03-08