Incidental Mutation 'R2007:Snrnp200'
ID 222453
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 040016-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R2007 (G1)
Quality Score 225
Status Validated
Chromosome 2
Chromosomal Location 127050306-127082371 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 127068968 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Proline at position 949 (L949P)
Ref Sequence ENSEMBL: ENSMUSP00000099509 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000103220]
AlphaFold Q6P4T2
Predicted Effect probably damaging
Transcript: ENSMUST00000103220
AA Change: L949P

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000099509
Gene: ENSMUSG00000003660
AA Change: L949P

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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000142327
Meta Mutation Damage Score 0.9738 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.5%
  • 20x: 95.7%
Validation Efficiency 96% (66/69)
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: 68 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A2ml1 A T 6: 128,519,855 (GRCm39) N1387K probably benign Het
Abca13 T C 11: 9,141,987 (GRCm39) F8L probably benign Het
Abcg5 G T 17: 84,977,348 (GRCm39) L270M probably damaging Het
Acad10 A G 5: 121,772,814 (GRCm39) L489S probably damaging Het
Acsf2 G A 11: 94,462,466 (GRCm39) T183I possibly damaging Het
Adamts7 A T 9: 90,059,909 (GRCm39) E282V probably damaging Het
Adcy4 C T 14: 56,015,770 (GRCm39) G440R possibly damaging Het
AI429214 G A 8: 37,460,923 (GRCm39) V24I probably benign Het
Angptl3 T C 4: 98,925,634 (GRCm39) I320T probably damaging Het
Apoa5 A T 9: 46,181,665 (GRCm39) Q247L possibly damaging Het
Astn1 T G 1: 158,436,875 (GRCm39) V811G probably damaging Het
Bard1 C T 1: 71,070,562 (GRCm39) V641I probably benign Het
Calb2 T C 8: 110,894,702 (GRCm39) E23G probably benign Het
Cdkl4 A G 17: 80,863,730 (GRCm39) probably benign Het
Cep85l A G 10: 53,154,171 (GRCm39) probably benign Het
Cfap91 T C 16: 38,118,616 (GRCm39) I728V probably benign Het
Chd1 G T 17: 15,951,268 (GRCm39) G281V probably damaging Het
Col17a1 C T 19: 47,656,141 (GRCm39) G586E probably damaging Het
Cpne3 T A 4: 19,553,833 (GRCm39) D66V probably damaging Het
Csde1 A T 3: 102,952,107 (GRCm39) I204L probably damaging Het
Dchs1 A T 7: 105,404,532 (GRCm39) V2670E probably damaging Het
Ddx10 A G 9: 53,124,578 (GRCm39) V428A probably benign Het
Dgkh T A 14: 78,840,489 (GRCm39) D530V probably benign Het
Dis3l A T 9: 64,215,558 (GRCm39) probably null Het
Dst T G 1: 34,265,093 (GRCm39) probably benign Het
Eml6 C T 11: 29,798,814 (GRCm39) probably null Het
En1 A T 1: 120,531,133 (GRCm39) E124D probably benign Het
Exo1 G A 1: 175,736,096 (GRCm39) E827K probably damaging Het
Fktn T C 4: 53,735,099 (GRCm39) F246L possibly damaging Het
Fndc1 G A 17: 7,997,580 (GRCm39) probably benign Het
Foxp2 G A 6: 15,396,818 (GRCm39) C381Y probably damaging Het
Galnt6 A T 15: 100,595,047 (GRCm39) Y485N probably damaging Het
Gemin4 G A 11: 76,103,444 (GRCm39) A439V possibly damaging Het
Gpatch8 A G 11: 102,391,657 (GRCm39) I155T unknown Het
Hmcn2 A G 2: 31,328,267 (GRCm39) D4316G possibly damaging Het
Hnrnpr T A 4: 136,046,824 (GRCm39) probably benign Het
Hpx G A 7: 105,244,781 (GRCm39) R135C probably damaging Het
Khdrbs2 T G 1: 32,559,629 (GRCm39) E151A probably benign Het
Krt6b A T 15: 101,586,562 (GRCm39) L309H probably damaging Het
Lce1c G T 3: 92,587,765 (GRCm39) C64F unknown Het
Marchf6 C T 15: 31,462,087 (GRCm39) probably null Het
Myt1 C A 2: 181,437,552 (GRCm39) R88S probably benign Het
Nemp1 A G 10: 127,529,446 (GRCm39) S194G probably benign Het
Nphp4 A G 4: 152,639,111 (GRCm39) K914R probably damaging Het
Or3a1 T A 11: 74,225,212 (GRCm39) T282S possibly damaging Het
Osbp T C 19: 11,951,265 (GRCm39) M270T probably benign Het
Parg T C 14: 31,932,531 (GRCm39) M457T possibly damaging Het
Phf20 T C 2: 156,129,874 (GRCm39) M482T probably benign Het
Pik3c2a G A 7: 115,941,472 (GRCm39) T1598I probably damaging Het
Pkd1 T C 17: 24,798,759 (GRCm39) M2689T probably damaging Het
Plxnd1 A T 6: 115,944,216 (GRCm39) V1091E probably damaging Het
Ptcd2 A T 13: 99,456,744 (GRCm39) L360Q probably damaging Het
Rbp3 C T 14: 33,677,975 (GRCm39) T641M probably damaging Het
Serpinc1 A T 1: 160,821,110 (GRCm39) T65S probably benign Het
Sipa1l2 G A 8: 126,166,176 (GRCm39) T1486I probably damaging Het
Ssc5d T G 7: 4,931,628 (GRCm39) C278W probably damaging Het
Tbc1d14 T G 5: 36,728,718 (GRCm39) H216P possibly damaging Het
Tmem183a A G 1: 134,277,861 (GRCm39) F301S probably damaging Het
Tmem233 A C 5: 116,189,496 (GRCm39) N94K possibly damaging Het
Tmprss13 A G 9: 45,243,843 (GRCm39) D193G probably damaging Het
Tprkb T C 6: 85,910,030 (GRCm39) probably benign Het
Tram1l1 A G 3: 124,115,488 (GRCm39) H216R possibly damaging Het
Ttn A G 2: 76,564,484 (GRCm39) V28551A probably damaging Het
Ubtfl1 A G 9: 18,320,547 (GRCm39) N25S possibly damaging Het
Unc80 C A 1: 66,542,935 (GRCm39) N396K probably damaging Het
Vmn1r171 T C 7: 23,332,012 (GRCm39) L79P probably damaging Het
Vmn2r115 G T 17: 23,566,927 (GRCm39) V480F possibly damaging Het
Xpo4 T C 14: 57,824,101 (GRCm39) I995V 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
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
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'- AGTGTCCAAGCTATCTGTGGTG -3'
(R):5'- AAGTTAAGTTCATAGCTCACAGGGC -3'

Sequencing Primer
(F):5'- CCAAGCTATCTGTGGTGCTTCTG -3'
(R):5'- CAGGGCACTGTTTAATCTAACTAGAC -3'
Posted On 2014-08-25