Incidental Mutation 'R7358:Snrnp200'
ID 571079
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 045444-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R7358 (G1)
Quality Score 225.009
Status Not validated
Chromosome 2
Chromosomal Location 127050306-127082371 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 127063746 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 642 (T642A)
Ref Sequence ENSEMBL: ENSMUSP00000099509 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000103220]
AlphaFold Q6P4T2
Predicted Effect probably benign
Transcript: ENSMUST00000103220
AA Change: T642A

PolyPhen 2 Score 0.026 (Sensitivity: 0.95; Specificity: 0.81)
SMART Domains Protein: ENSMUSP00000099509
Gene: ENSMUSG00000003660
AA Change: T642A

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: 99.7%
  • 20x: 99.1%
Validation Efficiency
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: 90 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca17 T A 17: 24,510,529 (GRCm39) Q983L probably benign Het
Agtr1a A T 13: 30,564,962 (GRCm39) D9V probably benign Het
Ahcyl T C 16: 45,974,201 (GRCm39) E392G probably damaging Het
Ankrd13c T A 3: 157,697,374 (GRCm39) Y326* probably null Het
Ano2 A G 6: 125,687,696 (GRCm39) D67G probably benign Het
Arhgef5 G A 6: 43,256,507 (GRCm39) R1205H probably damaging Het
Ascc3 T A 10: 50,590,448 (GRCm39) Y1055* probably null Het
Atad5 C T 11: 80,023,862 (GRCm39) A1658V probably benign Het
Atp6ap1l T C 13: 91,031,926 (GRCm39) D252G probably damaging Het
Bdkrb2 T C 12: 105,558,800 (GRCm39) V347A possibly damaging Het
Ccdc187 A T 2: 26,146,007 (GRCm39) L1194Q probably damaging Het
Chd9 A C 8: 91,710,115 (GRCm39) D770A unknown Het
Chd9 A G 8: 91,760,846 (GRCm39) D2197G unknown Het
Clip2 C A 5: 134,531,484 (GRCm39) E774* probably null Het
Clspn A G 4: 126,459,993 (GRCm39) T407A probably benign Het
Col24a1 T A 3: 144,998,926 (GRCm39) probably null Het
Cradd T A 10: 95,158,637 (GRCm39) T37S probably damaging Het
Cspg4b A G 13: 113,456,501 (GRCm39) D849G Het
Ctbp2 A G 7: 132,600,610 (GRCm39) F70S probably damaging Het
D3Ertd751e A T 3: 41,701,000 (GRCm39) E6D probably damaging Het
Dst T A 1: 34,230,754 (GRCm39) F2782L probably benign Het
Dync2h1 A G 9: 7,159,479 (GRCm39) probably null Het
Eif2s1 G T 12: 78,927,969 (GRCm39) G215V probably damaging Het
Epg5 A T 18: 78,002,252 (GRCm39) D557V possibly damaging Het
Eya4 C T 10: 22,999,749 (GRCm39) probably null Het
Fpr1 C A 17: 18,097,242 (GRCm39) R249L probably damaging Het
Fry A G 5: 150,339,788 (GRCm39) T1520A probably benign Het
Gapvd1 C T 2: 34,580,473 (GRCm39) probably null Het
Gemin4 A C 11: 76,104,278 (GRCm39) L161* probably null Het
Gid8 A T 2: 180,359,779 (GRCm39) K221I probably benign Het
Gm21028 A C 7: 42,227,913 (GRCm39) C34G probably damaging Het
Greb1 A G 12: 16,774,882 (GRCm39) S172P probably damaging Het
Herc2 A G 7: 55,832,423 (GRCm39) I3040V possibly damaging Het
Hmcn2 T A 2: 31,306,824 (GRCm39) V3190E probably damaging Het
Hrnr G T 3: 93,230,448 (GRCm39) G229* probably null Het
Igfn1 A T 1: 135,891,738 (GRCm39) V2259D probably damaging Het
Ism2 A G 12: 87,326,814 (GRCm39) F375S probably damaging Het
Kcnk4 T A 19: 6,903,478 (GRCm39) D357V probably damaging Het
Knl1 A G 2: 118,901,040 (GRCm39) R914G possibly damaging Het
Mars2 T C 1: 55,276,729 (GRCm39) S111P probably damaging Het
Mogat2 G A 7: 98,881,673 (GRCm39) P88S possibly damaging Het
Msh2 T A 17: 88,024,957 (GRCm39) S612T possibly damaging Het
Nvl A G 1: 180,962,601 (GRCm39) L123P probably damaging Het
Or1j20 T C 2: 36,759,890 (GRCm39) V104A probably benign Het
Or2d3c A T 7: 106,526,111 (GRCm39) L185Q probably damaging Het
Or51v15-ps1 A G 7: 103,278,390 (GRCm39) L259P unknown Het
Or5m11b T A 2: 85,805,780 (GRCm39) S64R possibly damaging Het
Or6c202 T A 10: 128,995,939 (GRCm39) I305F probably benign Het
Or7e174 A T 9: 20,012,169 (GRCm39) Y38F probably damaging Het
P2rx7 A T 5: 122,804,205 (GRCm39) probably null Het
Pard3 A T 8: 128,319,573 (GRCm39) I1149L probably damaging Het
Pcdha8 T A 18: 37,125,830 (GRCm39) I104N probably damaging Het
Pecr G A 1: 72,306,624 (GRCm39) T219I probably benign Het
Pgap2 A T 7: 101,859,774 (GRCm39) probably benign Het
Phf7 T C 14: 30,963,745 (GRCm39) R76G probably benign Het
Pigu T C 2: 155,141,090 (GRCm39) T268A probably damaging Het
Piwil4 T C 9: 14,641,289 (GRCm39) T231A possibly damaging Het
Pkd1l1 T G 11: 8,895,202 (GRCm39) E636A Het
Plscr3 T C 11: 69,738,316 (GRCm39) S55P unknown Het
Pnlip T A 19: 58,664,976 (GRCm39) I268N probably damaging Het
Podxl A T 6: 31,501,929 (GRCm39) H343Q probably benign Het
Prkcd T C 14: 30,327,793 (GRCm39) T213A probably benign Het
Prss22 T A 17: 24,215,419 (GRCm39) Q119L probably benign Het
Psme3ip1 T C 8: 95,302,327 (GRCm39) N235D possibly damaging Het
Ptprcap A G 19: 4,206,238 (GRCm39) E107G possibly damaging Het
Ptprg A G 14: 12,154,198 (GRCm38) T640A possibly damaging Het
Ptprh A T 7: 4,554,006 (GRCm39) probably null Het
Rasa4 A G 5: 136,124,448 (GRCm39) T166A probably benign Het
Sbf2 T C 7: 109,998,555 (GRCm39) E626G possibly damaging Het
Scn2a T A 2: 65,512,850 (GRCm39) Y203* probably null Het
Serpinb1a G C 13: 33,026,981 (GRCm39) H320Q probably damaging Het
Shisa7 G A 7: 4,832,920 (GRCm39) T464I probably benign Het
Slc47a2 G A 11: 61,199,699 (GRCm39) A399V possibly damaging Het
Spag16 A G 1: 69,883,526 (GRCm39) H85R probably benign Het
Spata31h1 A G 10: 82,127,847 (GRCm39) L1721S possibly damaging Het
Sry GCTGCTGGTGGTGGTCATGGAACTGCTGCTTCTGCTGGTGGTGGTCATGGAACTGCTGCTTCTGCTGGTGGTGGTCATGGAACTGCTGCTTCTGCTG GCTGCTGGTGGTGGTCATGGAACTGCTGCTTCTGCTGGTGGTGGTCATGGAACTGCTGCTTCTGCTG Y: 2,662,638 (GRCm39) probably benign Het
Stag3 C A 5: 138,299,770 (GRCm39) L894M probably damaging Het
Sun2 A T 15: 79,618,313 (GRCm39) F284Y probably benign Het
Tpx2 T A 2: 152,718,550 (GRCm39) N184K probably benign Het
Trpa1 A T 1: 14,968,334 (GRCm39) N477K probably damaging Het
Ttbk2 C T 2: 120,620,791 (GRCm39) R157H probably damaging Het
Ttn C T 2: 76,537,649 (GRCm39) E34760K probably benign Het
Tysnd1 T C 10: 61,532,427 (GRCm39) S360P probably damaging Het
Uqcc5 A G 14: 30,846,560 (GRCm39) V53A probably damaging Het
Usp34 T A 11: 23,311,683 (GRCm39) L511I probably damaging Het
Vmn2r71 A T 7: 85,273,468 (GRCm39) T761S possibly damaging Het
Zdhhc18 G T 4: 133,360,482 (GRCm39) C73* probably null Het
Zfp975 A T 7: 42,312,215 (GRCm39) C133S probably damaging Het
Zfy1 T C Y: 735,141 (GRCm39) E214G unknown Het
Zmym5 T A 14: 57,031,597 (GRCm39) K504* probably null 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
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
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'- AGTGTTAAACAGTCCACACTCAG -3'
(R):5'- TGCTCCTTAGAGAAGAGTAGGG -3'

Sequencing Primer
(F):5'- ACAGTCCACACTCAGTGTATATTTC -3'
(R):5'- CTCCTTAGAGAAGAGTAGGGAACAG -3'
Posted On 2019-09-13