Incidental Mutation 'R7731:Snrnp200'
ID 595808
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 045787-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R7731 (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 127071022 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Serine at position 1101 (N1101S)
Ref Sequence ENSEMBL: ENSMUSP00000099509 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000103220]
AlphaFold Q6P4T2
Predicted Effect probably benign
Transcript: ENSMUST00000103220
AA Change: N1101S

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000099509
Gene: ENSMUSG00000003660
AA Change: N1101S

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: ENSMUST00000140868
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.3%
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
A4gnt A G 9: 99,502,470 (GRCm39) E210G possibly damaging Het
Accsl T C 2: 93,691,363 (GRCm39) T372A probably benign Het
Adgrf5 T A 17: 43,761,451 (GRCm39) S1049T probably damaging Het
Agmo G A 12: 37,464,939 (GRCm39) R405K probably benign Het
Akap3 A G 6: 126,842,031 (GRCm39) T217A probably benign Het
Ankfy1 T A 11: 72,603,107 (GRCm39) N45K probably benign Het
Ankrd11 G A 8: 123,622,172 (GRCm39) T560I probably benign Het
Aqp1 T C 6: 55,322,804 (GRCm39) Y186H possibly damaging Het
Arhgef18 G A 8: 3,434,936 (GRCm39) V194M probably damaging Het
Arnt T C 3: 95,391,086 (GRCm39) V320A probably benign Het
B230217C12Rik T C 11: 97,732,226 (GRCm39) L2P unknown Het
Bco1 C A 8: 117,857,807 (GRCm39) S477R possibly damaging Het
Brd4 A G 17: 32,430,198 (GRCm39) S703P possibly damaging Het
Ceacam3 T A 7: 16,892,275 (GRCm39) N339K Het
Cebpb A G 2: 167,531,126 (GRCm39) D62G probably damaging Het
Clca4a T C 3: 144,658,546 (GRCm39) I890V probably benign Het
Cyp2d9 A G 15: 82,339,633 (GRCm39) probably null Het
Cyth1 T C 11: 118,059,879 (GRCm39) T374A possibly damaging Het
Dennd3 A T 15: 73,434,216 (GRCm39) H962L probably damaging Het
Dhtkd1 T G 2: 5,928,923 (GRCm39) L249F probably benign Het
Dnah7b T A 1: 46,178,905 (GRCm39) H859Q probably benign Het
E2f4 A G 8: 106,025,265 (GRCm39) D115G probably damaging Het
Eif4a3l1 A G 6: 136,305,871 (GRCm39) I111V probably benign Het
Exoc3l4 G C 12: 111,397,182 (GRCm39) D688H possibly damaging Het
Fan1 C T 7: 64,022,444 (GRCm39) V270I probably benign Het
Fat2 A T 11: 55,201,532 (GRCm39) I514N probably damaging Het
Fndc1 G A 17: 7,992,271 (GRCm39) T475I unknown Het
Fstl5 T A 3: 76,569,069 (GRCm39) I574N probably damaging Het
Fzd4 T C 7: 89,057,258 (GRCm39) V435A possibly damaging Het
Fzd6 T C 15: 38,897,327 (GRCm39) F492S probably damaging Het
Gm4924 T A 10: 82,213,361 (GRCm39) N386K unknown Het
Hbp1 A T 12: 31,983,367 (GRCm39) D362E possibly damaging Het
Hectd4 A C 5: 121,445,077 (GRCm39) M105L probably benign Het
Hivep2 C T 10: 14,025,458 (GRCm39) P2424L probably benign Het
Hspa4 A T 11: 53,157,791 (GRCm39) probably null Het
Igf2bp3 A G 6: 49,111,665 (GRCm39) V122A probably damaging Het
Ikzf2 A T 1: 69,578,302 (GRCm39) N402K possibly damaging Het
Ip6k1 T C 9: 107,921,927 (GRCm39) F207S probably damaging Het
Kbtbd8 C A 6: 95,095,559 (GRCm39) N24K probably benign Het
Krtap10-4 T G 10: 77,662,654 (GRCm39) T75P unknown Het
Macf1 C A 4: 123,338,672 (GRCm39) S4355I probably benign Het
Muc5b A T 7: 141,411,042 (GRCm39) probably null Het
Myo3a G A 2: 22,287,400 (GRCm39) V179M probably damaging Het
Nup210 G T 6: 91,048,870 (GRCm39) T462K possibly damaging Het
Or11g27 T A 14: 50,771,141 (GRCm39) S91T probably damaging Het
Or1l4 A G 2: 37,091,561 (GRCm39) M103V probably benign Het
Or51f5 A G 7: 102,424,141 (GRCm39) I137V probably benign Het
Or5j1 T C 2: 86,879,578 (GRCm39) M1V probably null Het
Or8b53 A G 9: 38,667,542 (GRCm39) Q186R possibly damaging Het
Ostn G A 16: 27,165,668 (GRCm39) R119Q probably damaging Het
Pcdhga11 A T 18: 37,889,564 (GRCm39) N191Y probably benign Het
Pcsk6 A T 7: 65,683,641 (GRCm39) Q752L probably benign Het
Pfas T C 11: 68,890,871 (GRCm39) T347A probably damaging Het
Pkd1 A T 17: 24,792,872 (GRCm39) R1520W probably damaging Het
Pphln1-ps1 C T 16: 13,495,623 (GRCm39) R241C probably damaging Het
Prpf8 T C 11: 75,399,732 (GRCm39) S2264P probably damaging Het
Ptcd1 C A 5: 145,088,174 (GRCm39) R612S probably benign Het
Ptch2 T A 4: 116,965,492 (GRCm39) F359Y probably benign Het
Ptprr A C 10: 116,073,200 (GRCm39) D474A probably damaging Het
Pum1 C A 4: 130,490,274 (GRCm39) Q846K probably benign Het
Slc22a14 C T 9: 118,999,677 (GRCm39) A505T possibly damaging Het
Smpdl3a A G 10: 57,678,650 (GRCm39) Y151C probably damaging Het
Sprr2b CTGAGCCTTGTCCTCCTCCAAAGTGCCCTGAGCCTTGTCCTCCCCCAGTATGCTGTGAGCCTTGTCCTCCTCCAAAGTGCCCTGAGCCTTGTCCTCCCCCAGTATGCTGTGAGCCTTGTCCTCC CTGAGCCTTGTCCTCCTCCAAAGTGCCCTGAGCCTTGTCCTCCCCCAGTATGCTGTGAGCCTTGTCCTCC 3: 92,224,826 (GRCm39) probably benign Het
Sptlc1 A G 13: 53,487,993 (GRCm39) V450A probably benign Het
Sqle A G 15: 59,187,821 (GRCm39) Y43C probably benign Het
Srgap3 T C 6: 112,743,858 (GRCm39) H460R probably benign Het
Syt15 A T 14: 33,945,024 (GRCm39) E190D possibly damaging Het
Tbc1d10b T C 7: 126,797,993 (GRCm39) K716R probably benign Het
Tbx20 T C 9: 24,681,993 (GRCm39) I120M probably damaging Het
Tgm1 T G 14: 55,947,978 (GRCm39) I274L probably benign Het
Tmem156 C T 5: 65,232,905 (GRCm39) probably null Het
Tnk2 A G 16: 32,488,952 (GRCm39) D264G possibly damaging Het
Tsc22d4 A G 5: 137,756,956 (GRCm39) S306G possibly damaging Het
Tut1 T A 19: 8,936,626 (GRCm39) V150D probably benign Het
Uchl5 T C 1: 143,670,275 (GRCm39) F143L Het
Vmn1r23 T C 6: 57,903,319 (GRCm39) K153R probably benign Het
Zfp236 A T 18: 82,698,798 (GRCm39) D94E probably benign Het
Zfp759 T C 13: 67,287,690 (GRCm39) Y414H 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
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
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'- ACTTCCCACCATAGCTTCATGG -3'
(R):5'- AGCTTTCACCTAGGTTCATGCC -3'

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