Incidental Mutation 'R7672:Snrnp200'
ID 592209
Institutional Source Beutler Lab
Gene Symbol Snrnp200
Ensembl Gene ENSMUSG00000003660
Gene Name small nuclear ribonucleoprotein 200 (U5)
Synonyms Ascc3l1, A330064G03Rik, HELIC2, U5-200KD
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R7672 (G1)
Quality Score 225.009
Status Not validated
Chromosome 2
Chromosomal Location 127050306-127082371 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 127063822 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 667 (V667A)
Ref Sequence ENSEMBL: ENSMUSP00000099509 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000103220]
AlphaFold Q6P4T2
Predicted Effect probably damaging
Transcript: ENSMUST00000103220
AA Change: V667A

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000099509
Gene: ENSMUSG00000003660
AA Change: V667A

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: 78 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9130023H24Rik T C 7: 127,836,191 (GRCm39) H134R probably damaging Het
Adcy4 A G 14: 56,018,362 (GRCm39) M195T probably benign Het
Aktip T C 8: 91,856,285 (GRCm39) N64S possibly damaging Het
Aldoart1 C A 4: 72,770,747 (GRCm39) M20I probably benign Het
Alms1 T C 6: 85,592,333 (GRCm39) L395P probably damaging Het
Ankrd9 C A 12: 110,943,180 (GRCm39) V252F probably benign Het
Apof A T 10: 128,104,885 (GRCm39) H13L probably benign Het
Bahcc1 T C 11: 120,174,172 (GRCm39) F1644S possibly damaging Het
Baz2a A G 10: 127,959,726 (GRCm39) D1377G possibly damaging Het
Bbox1 T A 2: 110,135,794 (GRCm39) I62F probably damaging Het
BC028528 CTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTT CTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTT 3: 95,795,448 (GRCm39) probably benign Het
BC028528 TCTGTGGTCACTGGT TCTGTGGTCACTGGTGCTGTGGTCACTGGT 3: 95,795,487 (GRCm39) probably benign Het
BC028528 GTTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTG GTTCTGTGGTCACTGATTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTG 3: 95,795,455 (GRCm39) probably benign Het
Bcas3 C T 11: 85,286,213 (GRCm39) R124* probably null Het
Bpnt1 T C 1: 185,078,879 (GRCm39) V114A probably damaging Het
Ccnd1 C T 7: 144,487,793 (GRCm39) R228H possibly damaging Het
Cd244a T C 1: 171,404,853 (GRCm39) V235A probably benign Het
Cramp1 C T 17: 25,201,440 (GRCm39) E681K probably damaging Het
Crebbp C T 16: 3,902,574 (GRCm39) A2222T probably benign Het
Cyp1a2 T A 9: 57,589,620 (GRCm39) T65S probably benign Het
Cyp26b1 T G 6: 84,561,351 (GRCm39) K104Q probably benign Het
D430041D05Rik T C 2: 104,071,581 (GRCm39) I556V probably benign Het
Dnase1l2 A G 17: 24,661,219 (GRCm39) L102P probably damaging Het
Eef1ece2 C A 16: 20,457,417 (GRCm39) A483E probably damaging Het
Elac1 C T 18: 73,871,925 (GRCm39) G357S probably benign Het
Enam C A 5: 88,651,830 (GRCm39) T1113N possibly damaging Het
Eogt A T 6: 97,090,870 (GRCm39) I423N probably damaging Het
Epc2 T C 2: 49,435,831 (GRCm39) S612P possibly damaging Het
Fam107b T C 2: 3,773,959 (GRCm39) V24A probably damaging Het
Fhip2a A G 19: 57,373,750 (GRCm39) H670R possibly damaging Het
Foxj3 C T 4: 119,477,429 (GRCm39) P413L unknown Het
Frg1 T C 8: 41,870,040 (GRCm39) probably benign Het
Fsip2 T A 2: 82,820,455 (GRCm39) V5396D possibly damaging Het
Hdlbp T C 1: 93,364,821 (GRCm39) T149A possibly damaging Het
Heatr1 A T 13: 12,453,545 (GRCm39) Q2140L probably damaging Het
Iqcd T C 5: 120,744,881 (GRCm39) L403P probably damaging Het
Kifbp A G 10: 62,413,852 (GRCm39) I102T probably benign Het
Kpna2 T G 11: 106,879,789 (GRCm39) N505T probably benign Het
Lipo3 T A 19: 33,757,785 (GRCm39) E228V probably benign Het
Map4k3 C T 17: 80,922,500 (GRCm39) V474I possibly damaging Het
Mrpl11 T C 19: 5,012,424 (GRCm39) S2P probably damaging Het
Mug2 A G 6: 122,017,678 (GRCm39) I472V probably benign Het
Myom1 G A 17: 71,391,235 (GRCm39) V915M possibly damaging Het
Nedd9 A T 13: 41,492,198 (GRCm39) I104N possibly damaging Het
Nphp3 A G 9: 103,909,159 (GRCm39) M790V probably benign Het
Nr3c2 C T 8: 77,635,838 (GRCm39) P313L probably damaging Het
Obsl1 A G 1: 75,469,365 (GRCm39) V1192A probably benign Het
Or10j2 C T 1: 173,098,440 (GRCm39) R233W probably benign Het
Or52e7 A G 7: 104,684,750 (GRCm39) H115R probably damaging Het
Or5t16 T C 2: 86,818,663 (GRCm39) I286V possibly damaging Het
Prr5l T G 2: 101,565,083 (GRCm39) E151A probably damaging Het
Psmb8 G T 17: 34,417,404 (GRCm39) R11L probably benign Het
Ptprg T A 14: 12,211,668 (GRCm38) H983Q probably benign Het
Ptprj T C 2: 90,290,940 (GRCm39) N600D possibly damaging Het
Rasgrp1 T C 2: 117,118,424 (GRCm39) I522V probably damaging Het
Rc3h1 A G 1: 160,778,454 (GRCm39) S460G probably damaging Het
Rhot2 A G 17: 26,062,079 (GRCm39) probably null Het
Sall1 T C 8: 89,757,927 (GRCm39) T726A probably damaging Het
Samd9l G A 6: 3,373,646 (GRCm39) T1205I probably benign Het
Sh2b3 C T 5: 121,956,822 (GRCm39) probably null Het
Slc22a18 G T 7: 143,044,557 (GRCm39) C170F probably damaging Het
Slc24a1 G A 9: 64,855,209 (GRCm39) T566I unknown Het
Slc4a5 T A 6: 83,237,517 (GRCm39) C167S probably damaging Het
Slc8b1 T G 5: 120,671,100 (GRCm39) V579G probably damaging Het
Sp8 C A 12: 118,813,070 (GRCm39) S308R possibly damaging Het
Srsf9 T A 5: 115,468,619 (GRCm39) V85E probably damaging Het
Syne1 T C 10: 5,168,527 (GRCm39) I5285V probably benign Het
Tmem245 T C 4: 56,947,069 (GRCm39) I115V probably benign Het
Triqk A G 4: 12,980,502 (GRCm39) D82G probably benign Het
Trmt11 A T 10: 30,463,520 (GRCm39) S198R probably damaging Het
Ube4b C T 4: 149,471,661 (GRCm39) R75Q probably benign Het
Ugt3a1 C T 15: 9,310,779 (GRCm39) Q354* probably null Het
Vmn1r202 A G 13: 22,685,850 (GRCm39) V189A probably benign Het
Vmn2r26 A G 6: 124,016,606 (GRCm39) I357V probably benign Het
Wdr6 T C 9: 108,450,947 (GRCm39) K914R probably benign Het
Zfat T C 15: 68,130,535 (GRCm39) M1V probably null Het
Zfp207 A G 11: 80,280,116 (GRCm39) M171V probably benign Het
Zfp568 C T 7: 29,697,212 (GRCm39) T44I 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
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'- CGGCATGTTAAGACTGTATACTTG -3'
(R):5'- CTGGCAGAGAACACTGTGAG -3'

Sequencing Primer
(F):5'- ATACTTGTACAGTTTGCATCTTTCTG -3'
(R):5'- GTGAGAGAAGTTACTTTCCATTGACC -3'
Posted On 2019-11-12