Incidental Mutation 'R2070:Snrnp200'
ID 227016
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 040075-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R2070 (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 G at 127079803 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 1891 (T1891A)
Ref Sequence ENSEMBL: ENSMUSP00000099509 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000003759] [ENSMUST00000103220] [ENSMUST00000174030]
AlphaFold Q6P4T2
Predicted Effect probably benign
Transcript: ENSMUST00000003759
SMART Domains Protein: ENSMUSP00000003759
Gene: ENSMUSG00000003662

DomainStartEndE-ValueType
WD40 4 44 6.73e-6 SMART
WD40 49 89 4.27e-8 SMART
WD40 94 133 5.22e-12 SMART
WD40 139 178 6.04e-8 SMART
WD40 183 222 9.22e-13 SMART
WD40 240 280 8.04e-4 SMART
WD40 291 332 5.26e-8 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000103220
AA Change: T1891A

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000099509
Gene: ENSMUSG00000003660
AA Change: T1891A

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: ENSMUST00000131435
Predicted Effect noncoding transcript
Transcript: ENSMUST00000143481
Predicted Effect noncoding transcript
Transcript: ENSMUST00000143575
Predicted Effect probably benign
Transcript: ENSMUST00000174030
SMART Domains Protein: ENSMUSP00000134189
Gene: ENSMUSG00000003662

DomainStartEndE-ValueType
WD40 4 44 6.73e-6 SMART
WD40 49 89 4.27e-8 SMART
WD40 94 133 5.22e-12 SMART
WD40 139 178 6.04e-8 SMART
WD40 183 222 9.22e-13 SMART
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.4%
  • 20x: 95.5%
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: 82 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2810021J22Rik A G 11: 58,767,595 (GRCm39) K31E probably damaging Het
Abcc10 G C 17: 46,614,491 (GRCm39) N1477K probably benign Het
Ablim2 G A 5: 35,955,857 (GRCm39) C24Y probably damaging Het
Ankle1 T C 8: 71,861,988 (GRCm39) F497S probably damaging Het
Armh3 G T 19: 45,879,724 (GRCm39) P543Q probably damaging Het
Ash1l C G 3: 88,873,510 (GRCm39) P98A probably damaging Het
Atad5 A T 11: 79,988,878 (GRCm39) probably null Het
B3gnt4 A T 5: 123,649,433 (GRCm39) H266L probably benign Het
Bmi1 A G 2: 18,688,851 (GRCm39) I207V probably benign Het
Bnip3l A G 14: 67,226,671 (GRCm39) M174T probably damaging Het
Bora T C 14: 99,299,714 (GRCm39) S229P probably damaging Het
Ccdc121 T C 5: 31,644,727 (GRCm39) V160A possibly damaging Het
Ccdc27 T A 4: 154,126,270 (GRCm39) N73I unknown Het
Cdc42bpg T A 19: 6,370,518 (GRCm39) C1204S probably damaging Het
Cdsn A T 17: 35,865,591 (GRCm39) D40V probably damaging Het
Cilp T A 9: 65,186,377 (GRCm39) V824D probably damaging Het
Cmtr1 A G 17: 29,913,757 (GRCm39) probably null Het
Cntnap1 A G 11: 101,073,805 (GRCm39) Y652C probably damaging Het
Col12a1 T C 9: 79,554,978 (GRCm39) I2033M probably benign Het
Cwh43 T C 5: 73,578,860 (GRCm39) L289P probably damaging Het
Ddhd1 T C 14: 45,848,081 (GRCm39) D529G probably damaging Het
Defb28 T A 2: 152,362,064 (GRCm39) S75T probably benign Het
Dennd2a A T 6: 39,442,053 (GRCm39) V939D probably damaging Het
Dlg5 T C 14: 24,186,703 (GRCm39) R1866G probably damaging Het
Dsc1 C T 18: 20,221,353 (GRCm39) probably null Het
Ecscr T G 18: 35,848,490 (GRCm39) N184T probably damaging Het
Eif4ebp1 G T 8: 27,763,372 (GRCm39) R55L probably damaging Het
Eml1 G T 12: 108,479,258 (GRCm39) V344L probably damaging Het
Exoc2 G T 13: 30,999,353 (GRCm39) N901K probably benign Het
Fam161b T A 12: 84,403,202 (GRCm39) I143F probably benign Het
Fam180a A G 6: 35,302,846 (GRCm39) S2P probably benign Het
Fat3 T A 9: 15,910,666 (GRCm39) I1779F probably benign Het
Fat4 A G 3: 39,064,804 (GRCm39) K4920R probably benign Het
Fsip2 T A 2: 82,806,699 (GRCm39) V1006E probably damaging Het
Glcci1 A G 6: 8,558,566 (GRCm39) S30G probably damaging Het
Gm5414 A T 15: 101,536,495 (GRCm39) S43R possibly damaging Het
Hao1 T C 2: 134,372,535 (GRCm39) T158A probably damaging Het
Hic1 T C 11: 75,059,885 (GRCm39) H154R possibly damaging Het
Hmgxb3 T C 18: 61,304,431 (GRCm39) Y53C probably damaging Het
Ipmk A T 10: 71,208,579 (GRCm39) K122* probably null Het
Jakmip2 T C 18: 43,696,395 (GRCm39) E518G probably benign Het
Kmt2e A G 5: 23,706,993 (GRCm39) T1519A probably benign Het
Lfng T C 5: 140,598,350 (GRCm39) I224T possibly damaging Het
Magel2 G A 7: 62,028,844 (GRCm39) V583I unknown Het
Map4k5 C T 12: 69,863,111 (GRCm39) V629I probably damaging Het
Med12l A G 3: 59,152,326 (GRCm39) D1037G probably damaging Het
Morc1 C T 16: 48,412,974 (GRCm39) T705I probably benign Het
Mptx2 A T 1: 173,102,145 (GRCm39) Y181* probably null Het
Mrpl24 T C 3: 87,830,374 (GRCm39) probably null Het
Myo5a A G 9: 75,089,266 (GRCm39) E1132G probably benign Het
Nedd4l T G 18: 65,345,891 (GRCm39) F814L probably damaging Het
Nmral1 T A 16: 4,534,211 (GRCm39) I77F probably damaging Het
Oit3 T G 10: 59,266,835 (GRCm39) I224L probably benign Het
Oxsm A G 14: 16,241,983 (GRCm38) L262P probably benign Het
Pacs2 C T 12: 113,024,731 (GRCm39) T407I probably damaging Het
Pard6g T C 18: 80,160,940 (GRCm39) I351T probably benign Het
Pdcl2 A T 5: 76,472,838 (GRCm39) probably null Het
Pdzph1 T C 17: 59,281,092 (GRCm39) R397G probably benign Het
Phip T A 9: 82,757,352 (GRCm39) I1607L probably benign Het
Plekhd1 C A 12: 80,739,681 (GRCm39) S10* probably null Het
Pramel24 T G 4: 143,453,472 (GRCm39) Y193* probably null Het
Prdm1 C T 10: 44,317,408 (GRCm39) D505N possibly damaging Het
Psmd13 T C 7: 140,477,561 (GRCm39) V320A probably damaging Het
Rbak A G 5: 143,162,339 (GRCm39) L8P probably damaging Het
Rere C A 4: 150,699,047 (GRCm39) probably benign Het
Rint1 T C 5: 24,015,927 (GRCm39) S456P possibly damaging Het
Scn3a T C 2: 65,351,210 (GRCm39) Q446R possibly damaging Het
Slitrk5 A G 14: 111,917,621 (GRCm39) Y415C probably damaging Het
Sohlh2 A G 3: 55,115,043 (GRCm39) I343V probably benign Het
Spin1 T C 13: 51,298,573 (GRCm39) probably null Het
St14 T A 9: 31,002,669 (GRCm39) I745F probably damaging Het
Sv2a G A 3: 96,101,191 (GRCm39) A730T possibly damaging Het
Tars2 C A 3: 95,654,950 (GRCm39) G113C probably damaging Het
Tlcd3b T C 7: 126,419,012 (GRCm39) L4P probably benign Het
Trp53 A G 11: 69,480,458 (GRCm39) D278G probably damaging Het
Ubxn7 T A 16: 32,191,287 (GRCm39) C160S possibly damaging Het
Uty T C Y: 1,169,193 (GRCm39) E414G probably benign Het
Wrap73 T A 4: 154,233,200 (GRCm39) S125T possibly damaging Het
Wwc2 T C 8: 48,321,356 (GRCm39) D586G unknown Het
Zfp106 T C 2: 120,354,010 (GRCm39) H1490R probably benign Het
Zswim5 T C 4: 116,837,109 (GRCm39) V731A probably benign Het
Zyg11b G C 4: 108,108,016 (GRCm39) N463K 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 2 127,054,323 (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 2 127,059,334 (GRCm39) missense probably damaging 1.00
R4728:Snrnp200 UTSW 2 127,069,798 (GRCm39) missense possibly damaging 0.89
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
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'- ATGGCTTCCTGTCACCAATATC -3'
(R):5'- ATTGCCTGCATGAAGACGGG -3'

Sequencing Primer
(F):5'- TCATACATCCTTCCGACACTATAG -3'
(R):5'- CCTGCATGAAGACGGGGTATAAG -3'
Posted On 2014-09-17