Incidental Mutation 'R4729:Snrnp200'
ID 358659
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 041603-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R4729 (G1)
Quality Score 225
Status Not validated
Chromosome 2
Chromosomal Location 127050306-127082371 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 127074857 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Phenylalanine at position 1477 (I1477F)
Ref Sequence ENSEMBL: ENSMUSP00000099509 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000103220]
AlphaFold Q6P4T2
Predicted Effect probably damaging
Transcript: ENSMUST00000103220
AA Change: I1477F

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000099509
Gene: ENSMUSG00000003660
AA Change: I1477F

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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000143481
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.1%
  • 20x: 94.9%
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: 76 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930562C15Rik T A 16: 4,667,187 (GRCm39) L220H unknown Het
Amt T A 9: 108,177,851 (GRCm39) L272Q probably damaging Het
Ank2 G C 3: 126,770,545 (GRCm39) Y894* probably null Het
Ankzf1 T A 1: 75,170,908 (GRCm39) F105I probably damaging Het
Aox4 C A 1: 58,298,236 (GRCm39) Y1067* probably null Het
BC034090 T A 1: 155,100,836 (GRCm39) Q476L probably damaging Het
Bhmt G T 13: 93,763,871 (GRCm39) R57S probably damaging Het
Cacna1c A T 6: 118,633,136 (GRCm39) F964L probably damaging Het
Celsr3 A C 9: 108,724,851 (GRCm39) S396R probably benign Het
Cpne4 C A 9: 104,799,755 (GRCm39) Q191K probably damaging Het
Csnk1g2 T C 10: 80,475,038 (GRCm39) Y352H probably benign Het
D630003M21Rik A G 2: 158,058,623 (GRCm39) S426P probably damaging Het
Dennd10 T A 19: 60,823,309 (GRCm39) F315I probably benign Het
Dido1 G T 2: 180,329,443 (GRCm39) N326K probably benign Het
E2f2 T A 4: 135,911,760 (GRCm39) I257N probably damaging Het
Elfn1 T G 5: 139,959,413 (GRCm39) F806V probably damaging Het
Eml6 T A 11: 29,783,204 (GRCm39) Y559F probably damaging Het
Erich6 A G 3: 58,543,480 (GRCm39) probably null Het
Fam78a T C 2: 31,972,617 (GRCm39) N101S probably damaging Het
Fam83h A G 15: 75,874,185 (GRCm39) S1051P probably benign Het
Galns C T 8: 123,330,195 (GRCm39) G112D probably damaging Het
Gm9923 A G 10: 72,145,524 (GRCm39) K125R probably damaging Het
Hectd3 G A 4: 116,854,415 (GRCm39) V326M probably damaging Het
Iars2 A G 1: 185,048,248 (GRCm39) S495P possibly damaging Het
Ice1 T C 13: 70,754,503 (GRCm39) R528G probably damaging Het
Igkv12-38 T A 6: 69,920,368 (GRCm39) Y50F possibly damaging Het
Inpp5j T C 11: 3,445,025 (GRCm39) S883G probably damaging Het
Irf8 T C 8: 121,480,178 (GRCm39) S139P probably damaging Het
Itpr2 A G 6: 146,274,671 (GRCm39) F837S probably damaging Het
Kcnq4 G T 4: 120,570,271 (GRCm39) D357E possibly damaging Het
Klhl1 A G 14: 96,517,584 (GRCm39) L364P probably damaging Het
Krt7 A G 15: 101,318,439 (GRCm39) I309V probably benign Het
Krt76 G T 15: 101,797,516 (GRCm39) A281D probably damaging Het
Lancl2 T C 6: 57,714,697 (GRCm39) F430L probably damaging Het
Llgl2 T C 11: 115,739,125 (GRCm39) V332A probably damaging Het
Lrrc26 A T 2: 25,180,076 (GRCm39) T26S probably benign Het
Lrrk1 T A 7: 65,912,041 (GRCm39) M1840L probably benign Het
Lyst G A 13: 13,812,486 (GRCm39) C966Y probably damaging Het
Mad1l1 T A 5: 140,247,266 (GRCm39) S354C possibly damaging Het
Mbtps1 C T 8: 120,252,159 (GRCm39) G577D probably damaging Het
Mycbp2 C T 14: 103,426,027 (GRCm39) R2366H probably damaging Het
Myo18a T G 11: 77,668,511 (GRCm39) probably null Het
Naip5 G A 13: 100,358,639 (GRCm39) R866C possibly damaging Het
Nav2 T A 7: 49,102,567 (GRCm39) V455E probably benign Het
Neb A G 2: 52,153,674 (GRCm39) I2417T possibly damaging Het
Nme5 C T 18: 34,702,890 (GRCm39) A133T probably benign Het
Nradd T C 9: 110,450,979 (GRCm39) D51G possibly damaging Het
Pard3b A G 1: 62,250,843 (GRCm39) R591G probably damaging Het
Pcbp4 T C 9: 106,337,929 (GRCm39) F73S probably damaging Het
Pcdhb11 C T 18: 37,555,419 (GRCm39) Q250* probably null Het
Pde1c T A 6: 56,049,194 (GRCm39) K766N probably damaging Het
Phf21b G A 15: 84,738,942 (GRCm39) Q40* probably null Het
Prr14 A G 7: 127,073,868 (GRCm39) D244G probably benign Het
Rab11fip5 C T 6: 85,351,249 (GRCm39) A88T probably damaging Het
Rad54l2 A T 9: 106,593,317 (GRCm39) S428T probably benign Het
Rdh9 A G 10: 127,612,621 (GRCm39) I90V probably benign Het
Rhag G T 17: 41,139,292 (GRCm39) G76C probably damaging Het
Riok3 T A 18: 12,261,984 (GRCm39) V6E possibly damaging Het
Rnf7l A T 10: 63,257,244 (GRCm39) V92E probably damaging Het
Scn10a A G 9: 119,500,592 (GRCm39) I229T probably damaging Het
Slco1a1 G T 6: 141,854,695 (GRCm39) T652K probably benign Het
Slit1 T A 19: 41,635,459 (GRCm39) I345F probably damaging Het
Snx31 G A 15: 36,523,698 (GRCm39) T328I possibly damaging Het
Strn A G 17: 78,965,390 (GRCm39) F634S probably damaging Het
Tmem101 C T 11: 102,047,155 (GRCm39) G6R probably benign Het
Tmem199 C G 11: 78,399,506 (GRCm39) G131R probably benign Het
Trim66 A G 7: 109,055,267 (GRCm39) probably null Het
Ttn G T 2: 76,681,929 (GRCm39) probably benign Het
Upk3bl T C 5: 136,086,247 (GRCm39) L61P probably benign Het
Vmn2r108 A G 17: 20,692,632 (GRCm39) Y75H probably damaging Het
Vmn2r91 T A 17: 18,327,906 (GRCm39) I500K probably damaging Het
Vps18 C T 2: 119,124,272 (GRCm39) R400C probably damaging Het
Zeb1 C T 18: 5,767,286 (GRCm39) P599L probably damaging Het
Zfhx4 G T 3: 5,464,557 (GRCm39) A1572S probably damaging Het
Zfp677 T A 17: 21,617,680 (GRCm39) C246S possibly damaging Het
Zfp719 T A 7: 43,239,834 (GRCm39) I474N 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
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
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'- TCACAAAGATTTCAGCCTATTGCC -3'
(R):5'- AGGAATGAAGGCTGTCCTACC -3'

Sequencing Primer
(F):5'- GCCTATTGCCTTATTTCAAAAGAGTG -3'
(R):5'- CTACCTGGATGTGCAGTTCCAAAG -3'
Posted On 2015-11-11