Mutagenetix > Incidental Mutation

Incidental Mutation 'R6010:Snrpb2'

479689

Institutional Source

Beutler Lab

Gene Symbol

Snrpb2

Ensembl Gene

ENSMUSG00000008333

Gene Name

U2 small nuclear ribonucleoprotein B

Synonyms

2810052G09Rik

MMRRC Submission

044187-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.631) question?

Stock #

R6010 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

142904989-142913972 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 142912815 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 146 (D146G)

Ref Sequence

ENSEMBL: ENSMUSP00000008477 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000008477] [ENSMUST00000126763]

AlphaFold

Q9CQI7

Predicted Effect

possibly damaging
Transcript: ENSMUST00000008477
AA Change: D146G

PolyPhen 2 Score 0.487 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000008477
Gene: ENSMUSG00000008333
AA Change: D146G

Domain	Start	End	E-Value	Type
RRM	8	82	8.01e-14	SMART
low complexity region	99	123	N/A	INTRINSIC
RRM	152	221	9.42e-11	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000126763

SMART Domains

Protein: ENSMUSP00000120137
Gene: ENSMUSG00000008333

Domain	Start	End	E-Value	Type
RRM	8	82	8.01e-14	SMART
low complexity region	99	123	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000127760

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000134091

Meta Mutation Damage Score

0.0882

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 97.7%
20x: 92.9%

Validation Efficiency

100% (65/65)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene associates with stem loop IV of U2 small nuclear ribonucleoprotein (U2 snRNP) in the presence of snRNP-A'. The encoded protein may play a role in pre-mRNA splicing. Autoantibodies from patients with systemic lupus erythematosus frequently recognize epitopes on the encoded protein. Two transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jul 2008]

Allele List at MGI

Other mutations in this stock

Total: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Actl7a	A	G	4: 56,743,870 (GRCm39)	I132M	possibly damaging	Het
Agap2	A	T	10: 126,926,779 (GRCm39)	I939F	probably damaging	Het
Ahctf1	A	G	1: 179,623,378 (GRCm39)	V80A	possibly damaging	Het
Atxn3	T	C	12: 101,914,285 (GRCm39)	D67G	probably damaging	Het
Avl9	G	A	6: 56,730,375 (GRCm39)	V573M	possibly damaging	Het
Baz1b	G	A	5: 135,246,305 (GRCm39)	E585K	possibly damaging	Het
Brms1l	T	C	12: 55,914,985 (GRCm39)	F298S	possibly damaging	Het
Camk2d	G	A	3: 126,591,363 (GRCm39)	V278I	possibly damaging	Het
Car10	A	G	11: 93,490,149 (GRCm39)	I297V	possibly damaging	Het
Cfap65	C	T	1: 74,962,190 (GRCm39)	C677Y	probably damaging	Het
Cfap74	T	A	4: 155,538,495 (GRCm39)	D872E	possibly damaging	Het
Cgrrf1	A	C	14: 47,091,158 (GRCm39)	Q227H	probably damaging	Het
Chil4	A	G	3: 106,121,711 (GRCm39)	I46T	probably damaging	Het
Chpf2	A	T	5: 24,796,917 (GRCm39)	H621L	probably damaging	Het
Cluap1	C	T	16: 3,755,437 (GRCm39)	R351W	possibly damaging	Het
Cnot6	A	T	11: 49,574,066 (GRCm39)	Y201*	probably null	Het
Col15a1	T	C	4: 47,245,630 (GRCm39)	V127A	probably benign	Het
Col6a3	C	T	1: 90,701,219 (GRCm39)	V2566I	unknown	Het
Cope	T	A	8: 70,761,162 (GRCm39)	M88K	probably damaging	Het
Cops4	A	G	5: 100,691,776 (GRCm39)	I358M	possibly damaging	Het
Coro7	T	C	16: 4,487,820 (GRCm39)	E130G	possibly damaging	Het
Csrp3	A	G	7: 48,485,213 (GRCm39)		probably null	Het
Cyp4f39	T	C	17: 32,701,160 (GRCm39)	F217L	probably damaging	Het
Dmac1	A	G	4: 75,196,473 (GRCm39)	S6P	unknown	Het
Drd4	A	T	7: 140,874,709 (GRCm39)	I367F	probably damaging	Het
Efcc1	T	A	6: 87,730,711 (GRCm39)		probably null	Het
Emid1	A	T	11: 5,085,389 (GRCm39)	M119K	possibly damaging	Het
Fbn2	C	T	18: 58,202,596 (GRCm39)	D1237N	probably benign	Het
Fbxl18	C	A	5: 142,858,153 (GRCm39)	R761L	probably damaging	Het
Gbp10	A	C	5: 105,372,205 (GRCm39)	L185R	probably damaging	Het
Gm7247	C	T	14: 51,601,805 (GRCm39)	S26F	probably benign	Het
Gucd1	G	T	10: 75,256,600 (GRCm39)		probably benign	Het
Helb	G	A	10: 119,941,788 (GRCm39)	T300M	probably damaging	Het
Ifna11	A	T	4: 88,738,278 (GRCm39)	H28L	probably benign	Het
Kalrn	T	A	16: 33,830,950 (GRCm39)	N723I	probably benign	Het
Kcnb2	C	T	1: 15,780,790 (GRCm39)	S554F	possibly damaging	Het
Med1	A	C	11: 98,049,188 (GRCm39)	V536G	probably damaging	Het
Nanog	A	C	6: 122,690,255 (GRCm39)	N195T	probably benign	Het
Neu1	C	T	17: 35,151,031 (GRCm39)	S94F	probably damaging	Het
Nop58	T	A	1: 59,740,071 (GRCm39)	S154R	probably damaging	Het
Npl	A	T	1: 153,388,314 (GRCm39)	L239*	probably null	Het
Nrg1	G	A	8: 32,308,600 (GRCm39)	T483M	probably damaging	Het
Nup98	G	T	7: 101,829,636 (GRCm39)	F391L	probably damaging	Het
Or4c122	A	T	2: 89,079,087 (GRCm39)	I305K	probably benign	Het
Or5ar1	T	C	2: 85,671,905 (GRCm39)	I77V	probably benign	Het
Or5d47	A	T	2: 87,804,886 (GRCm39)	V41E	probably damaging	Het
Or5g26	T	C	2: 85,494,374 (GRCm39)	I135V	probably benign	Het
Pacsin2	A	G	15: 83,266,020 (GRCm39)	V59A	possibly damaging	Het
Pcsk9	C	T	4: 106,311,469 (GRCm39)	R254H	possibly damaging	Het
Pierce2	A	T	9: 72,887,488 (GRCm39)		probably null	Het
Psme2	C	A	14: 55,824,980 (GRCm39)		probably null	Het
Ptprc	T	A	1: 138,028,794 (GRCm39)	H468L	probably benign	Het
Rbp3	T	A	14: 33,676,604 (GRCm39)	I184N	probably damaging	Het
Serpinb1c	A	G	13: 33,066,042 (GRCm39)	L301P	probably damaging	Het
Smim6	G	T	11: 115,804,219 (GRCm39)	G2V	probably damaging	Het
Svep1	T	A	4: 58,115,832 (GRCm39)	S954C	possibly damaging	Het
Telo2	G	T	17: 25,323,852 (GRCm39)	T568N	possibly damaging	Het
Tpp2	T	C	1: 43,990,373 (GRCm39)		probably null	Het
Upf1	A	G	8: 70,789,675 (GRCm39)	V720A	probably damaging	Het
Vmn1r81	T	C	7: 11,994,349 (GRCm39)	I86M	possibly damaging	Het
Vps8	T	A	16: 21,363,955 (GRCm39)		probably benign	Het
Wdr70	T	C	15: 7,916,900 (GRCm39)		probably null	Het
Zfp385c	A	T	11: 100,548,363 (GRCm39)	S30T	probably benign	Het
Zfp607a	T	A	7: 27,577,254 (GRCm39)	L108*	probably null	Het

Other mutations in Snrpb2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL03396:Snrpb2	APN	2	142,913,377 (GRCm39)	missense	possibly damaging	0.67
IGL02796:Snrpb2	UTSW	2	142,906,487 (GRCm39)	start codon destroyed	probably benign	0.07
R0739:Snrpb2	UTSW	2	142,907,281 (GRCm39)	splice site	probably benign
R1345:Snrpb2	UTSW	2	142,907,086 (GRCm39)	splice site	probably benign
R1370:Snrpb2	UTSW	2	142,907,086 (GRCm39)	splice site	probably benign
R1869:Snrpb2	UTSW	2	142,907,106 (GRCm39)	missense	possibly damaging	0.89
R4657:Snrpb2	UTSW	2	142,912,893 (GRCm39)	missense	possibly damaging	0.89
R4841:Snrpb2	UTSW	2	142,910,237 (GRCm39)	missense	possibly damaging	0.54
R6472:Snrpb2	UTSW	2	142,910,221 (GRCm39)	missense	possibly damaging	0.57
R8167:Snrpb2	UTSW	2	142,910,284 (GRCm39)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- TGACTTGAGTGCTGGTCTCC -3'
(R):5'- CTGCAGAGAACGAGTGTTGTG -3'

Sequencing Primer
(F):5'- AGTGCTGGTCTCCCCTGTTG -3'
(R):5'- TGTTGTGGAGTGACAAATGAACTC -3'

Posted On

2017-06-26