Incidental Mutation 'R7436:Snrnp200'
ID 580533
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 045512-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R7436 (G1)
Quality Score 225.009
Status Validated
Chromosome 2
Chromosomal Location 127050306-127082371 bp(+) (GRCm39)
Type of Mutation critical splice donor site (1 bp from exon)
DNA Base Change (assembly) G to A at 127068404 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000099509 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000103220]
AlphaFold Q6P4T2
Predicted Effect probably null
Transcript: ENSMUST00000103220
SMART Domains Protein: ENSMUSP00000099509
Gene: ENSMUSG00000003660

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: 100.0%
  • 10x: 99.8%
  • 20x: 99.3%
Validation Efficiency 97% (66/68)
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: 68 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700024B05Rik A G 14: 41,805,178 (GRCm39) probably null Het
2310034C09Rik A G 16: 88,556,242 (GRCm39) Y152C probably benign Het
Acads C A 5: 115,249,057 (GRCm39) Q365H probably damaging Het
Akap1 A G 11: 88,736,354 (GRCm39) S103P probably damaging Het
Ampd1 T A 3: 102,981,435 (GRCm39) probably null Het
Apoa1 T A 9: 46,141,100 (GRCm39) probably null Het
Asb16 A G 11: 102,163,481 (GRCm39) D157G possibly damaging Het
Bank1 T C 3: 135,761,561 (GRCm39) N748D possibly damaging Het
BC034090 C A 1: 155,102,127 (GRCm39) G46W probably damaging Het
Ccdc202 A T 14: 96,120,027 (GRCm39) K261N probably benign Het
Ccdc73 T A 2: 104,782,214 (GRCm39) V190E probably damaging Het
Cracd GCGCGAGGCCGAGAGGCAGGAGGAGGAAGCAAGACAACGCGAGGCCGAGAGGCAGG GCGCGAGGCCGAGAGGCAGG 5: 77,004,801 (GRCm39) probably benign Het
Cyb561a3 A G 19: 10,559,696 (GRCm39) Y7C probably damaging Het
Cyp2t4 A T 7: 26,857,668 (GRCm39) D427V probably damaging Het
Cyp4f14 T C 17: 33,128,131 (GRCm39) T295A probably benign Het
D430041D05Rik T C 2: 104,087,447 (GRCm39) T510A probably benign Het
Dennd6a G T 14: 26,300,865 (GRCm39) E26* probably null Het
Dusp10 T C 1: 183,801,418 (GRCm39) I395T probably damaging Het
Dzip3 T A 16: 48,772,352 (GRCm39) H439L probably damaging Het
Heatr5b T A 17: 79,075,962 (GRCm39) D1452V probably benign Het
Hsd3b2 A G 3: 98,619,112 (GRCm39) F278L probably benign Het
Hspg2 T A 4: 137,242,975 (GRCm39) M702K probably damaging Het
Hydin T C 8: 111,310,546 (GRCm39) F4081L probably damaging Het
Ido1 T G 8: 25,076,932 (GRCm39) T209P probably benign Het
Ift122 C T 6: 115,903,263 (GRCm39) R1176C probably benign Het
Ipo8 T C 6: 148,691,303 (GRCm39) Y689C probably benign Het
Macf1 C T 4: 123,350,436 (GRCm39) R3809Q probably benign Het
Manea T C 4: 26,328,228 (GRCm39) Y271C probably damaging Het
Mroh2b A G 15: 4,971,036 (GRCm39) T1014A probably benign Het
Nek5 A G 8: 22,598,056 (GRCm39) F200L probably damaging Het
Nipal1 A G 5: 72,824,984 (GRCm39) I226V probably benign Het
Nipsnap3a A T 4: 52,994,159 (GRCm39) N80I probably damaging Het
Nmur1 G A 1: 86,314,100 (GRCm39) P389S probably benign Het
Or10d5 G T 9: 39,861,349 (GRCm39) C239* probably null Het
Or1p1 T C 11: 74,179,511 (GRCm39) L13P possibly damaging Het
Or8u10 T C 2: 85,915,251 (GRCm39) Y290C probably damaging Het
Patl2 A C 2: 121,958,006 (GRCm39) V84G probably benign Het
Pcdhb4 T C 18: 37,442,328 (GRCm39) V546A probably damaging Het
Phf20l1 G T 15: 66,469,599 (GRCm39) S168I possibly damaging Het
Phgdh T C 3: 98,247,045 (GRCm39) N35S probably benign Het
Pigw A T 11: 84,768,789 (GRCm39) M180K probably damaging Het
Pkhd1 G T 1: 20,270,925 (GRCm39) H3209Q probably benign Het
Plbd2 A G 5: 120,624,861 (GRCm39) F436L probably damaging Het
Plch2 T C 4: 155,068,553 (GRCm39) T1358A probably benign Het
Poll C T 19: 45,541,496 (GRCm39) V491M probably damaging Het
Polr1e A G 4: 45,024,553 (GRCm39) probably null Het
Ppp1r35 G A 5: 137,778,279 (GRCm39) W258* probably null Het
Ptpdc1 A T 13: 48,740,142 (GRCm39) F430I probably benign Het
Ptprh T C 7: 4,555,742 (GRCm39) E739G probably damaging Het
Ramp2 T C 11: 101,138,765 (GRCm39) V148A possibly damaging Het
Rapgef6 T C 11: 54,501,747 (GRCm39) probably null Het
Rbm5 A G 9: 107,627,593 (GRCm39) probably null Het
Rnf39 A T 17: 37,254,241 (GRCm39) S88C probably benign Het
Rpl12 A G 2: 32,853,836 (GRCm39) I155V probably benign Het
Scart2 A T 7: 139,841,520 (GRCm39) T275S probably benign Het
Senp5 C T 16: 31,794,847 (GRCm39) E596K unknown Het
Serpinb9d A G 13: 33,379,916 (GRCm39) Y85C probably benign Het
Serpinf1 T A 11: 75,307,142 (GRCm39) Y65F probably benign Het
Spatc1 A T 15: 76,152,568 (GRCm39) Q66L probably benign Het
Tet3 TGGCCCAGGCCCAGGC TGGCCCAGGCCCAGGCCCAGGC 6: 83,345,211 (GRCm39) probably benign Het
Traf3ip1 A G 1: 91,439,110 (GRCm39) D342G probably benign Het
Txk T A 5: 72,853,922 (GRCm39) T472S probably damaging Het
Ube2j2 T C 4: 156,041,788 (GRCm39) V249A probably damaging Het
Utrn A C 10: 12,315,535 (GRCm39) N3025K possibly damaging Het
Vmn1r17 T A 6: 57,337,862 (GRCm39) M168L probably benign Het
Vmn1r77 T A 7: 11,775,694 (GRCm39) S157T probably benign Het
Zfp977 A G 7: 42,229,884 (GRCm39) S214P probably benign Het
Zscan10 T C 17: 23,828,979 (GRCm39) L507P possibly 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
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
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'- TTCTGCCTTAGATGCTGGGC -3'
(R):5'- ACTTAATTCTTAAGCACAAGGACCC -3'

Sequencing Primer
(F):5'- CTTAGATGCTGGGCCGTGC -3'
(R):5'- TTCTTAAGCACAAGGACCCACATTAC -3'
Posted On 2019-10-07