Mutagenetix > Incidental Mutation

Incidental Mutation 'R5486:Snrnp200'

430355

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

043047-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R5486 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

127050306-127082371 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 127074986 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Proline to Serine at position 1520 (P1520S)

Ref Sequence

ENSEMBL: ENSMUSP00000099509 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000103220]

AlphaFold

Q6P4T2

Predicted Effect

possibly damaging
Transcript: ENSMUST00000103220
AA Change: P1520S

PolyPhen 2 Score 0.819 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000099509
Gene: ENSMUSG00000003660
AA Change: P1520S

Domain	Start	End	E-Value	Type
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: 98.2%
3x: 97.2%
10x: 95.1%
20x: 90.4%

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: 43 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A930009A15Rik	G	T	10: 115,415,810 (GRCm39)		probably benign	Het
Acad8	A	T	9: 26,910,791 (GRCm39)	M1K	probably null	Het
Adam12	C	A	7: 133,509,401 (GRCm39)	R786S	possibly damaging	Het
Add3	G	A	19: 53,232,818 (GRCm39)	V604I	probably benign	Het
Alpk2	A	T	18: 65,427,425 (GRCm39)		probably null	Het
Ano3	T	C	2: 110,576,215 (GRCm39)	D102G	probably damaging	Het
Bdp1	T	C	13: 100,235,018 (GRCm39)	Y192C	probably damaging	Het
Bod1l	A	T	5: 41,964,524 (GRCm39)	D2693E	possibly damaging	Het
Ccdc7a	T	C	8: 129,711,884 (GRCm39)	N284D	probably damaging	Het
Clic6	A	G	16: 92,326,740 (GRCm39)		probably null	Het
Cln5	T	C	14: 103,313,630 (GRCm39)	I294T	probably damaging	Het
Cmklr1	C	G	5: 113,752,990 (GRCm39)	D4H	possibly damaging	Het
Cyp2d9	T	A	15: 82,336,779 (GRCm39)	W43R	probably damaging	Het
Dnajb12	GC	G	10: 59,728,574 (GRCm39)		probably null	Het
Erlec1	A	T	11: 30,885,047 (GRCm39)	H413Q	probably damaging	Het
Fam168a	T	A	7: 100,483,376 (GRCm39)	M203K	probably damaging	Het
Fat2	A	T	11: 55,144,507 (GRCm39)	S4122R	probably benign	Het
Fgd4	A	T	16: 16,292,901 (GRCm39)	L272Q	probably damaging	Het
Hpcal4	A	G	4: 123,084,557 (GRCm39)	K162R	probably benign	Het
Iars1	T	A	13: 49,863,049 (GRCm39)		probably null	Het
Lbr	A	G	1: 181,646,403 (GRCm39)		probably null	Het
Lrp2	T	C	2: 69,267,809 (GRCm39)	I4259V	probably benign	Het
Mcm3	C	T	1: 20,885,118 (GRCm39)	G189S	probably damaging	Het
Nr1d2	A	G	14: 18,206,860 (GRCm38)	V137A	possibly damaging	Het
Or52d1	C	A	7: 103,755,705 (GRCm39)	T73N	probably damaging	Het
Or52n3	T	A	7: 104,530,168 (GRCm39)	C85S	probably benign	Het
Or7g33	A	G	9: 19,448,590 (GRCm39)	V212A	probably benign	Het
Pim3	T	C	15: 88,747,425 (GRCm39)	V97A	possibly damaging	Het
Piwil2	T	C	14: 70,638,880 (GRCm39)	N479S	probably benign	Het
Pld3	C	A	7: 27,233,156 (GRCm39)	W365L	probably damaging	Het
Plk3	C	A	4: 116,987,600 (GRCm39)	E412*	probably null	Het
Psmd1	A	G	1: 86,064,772 (GRCm39)	I935V	possibly damaging	Het
Sh2b2	A	G	5: 136,260,944 (GRCm39)	S91P	probably benign	Het
Skor2	A	G	18: 76,946,395 (GRCm39)	N39S	unknown	Het
Slc22a22	A	G	15: 57,126,847 (GRCm39)	V55A	probably damaging	Het
Smg7	A	G	1: 152,721,927 (GRCm39)	S595P	probably damaging	Het
Taar7a	T	A	10: 23,868,356 (GRCm39)	T342S	probably benign	Het
Tecpr2	A	T	12: 110,899,449 (GRCm39)	I606F	probably benign	Het
Tex19.2	A	T	11: 121,008,304 (GRCm39)	M48K	probably benign	Het
Thoc1	A	G	18: 9,992,204 (GRCm39)	T511A	probably benign	Het
Trpc2	GTGTCCTA	GTGTCCTATGTCCTA	7: 101,744,420 (GRCm39)		probably null	Het
Ubr5	C	A	15: 38,008,983 (GRCm39)	A1077S	probably benign	Het
Wdr95	A	T	5: 149,519,795 (GRCm39)	R571*	probably null	Het

Other mutations in Snrnp200

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH 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
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'- GGGCCTGAAGTGACTCTTTCTC -3'
(R):5'- AACGATGACAGGCTTCTTGG -3'

Sequencing Primer
(F):5'- GAAGTGACTCTTTCTCTTCTTCCCAG -3'
(R):5'- ATGACAGGCTTCTTGGGTGAG -3'

Posted On

2016-10-05