Mutagenetix > Incidental Mutation

Incidental Mutation 'R5678:Csrnp2'

442909

Institutional Source

Beutler Lab

Gene Symbol

Csrnp2

Ensembl Gene

ENSMUSG00000044636

Gene Name

cysteine-serine-rich nuclear protein 2

Synonyms

CSRNP-2

MMRRC Submission

043317-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5678 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

100377451-100393120 bp(-) (GRCm39)

Type of Mutation

makesense

DNA Base Change (assembly)

T to C at 100379685 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Stop codon to Tryptophan at position 535 (*535W)

Ref Sequence

ENSEMBL: ENSMUSP00000052144 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000037001] [ENSMUST00000061457] [ENSMUST00000229012] [ENSMUST00000229648] [ENSMUST00000230294]

AlphaFold

Q8BGQ2

Predicted Effect

probably benign
Transcript: ENSMUST00000037001

SMART Domains

Protein: ENSMUSP00000037546
Gene: ENSMUSG00000037353

Domain	Start	End	E-Value	Type
Pfam:LETM1	78	346	1.5e-72	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000061457
AA Change: *535W

SMART Domains

Protein: ENSMUSP00000052144
Gene: ENSMUSG00000044636
AA Change: *535W

Domain	Start	End	E-Value	Type
low complexity region	14	40	N/A	INTRINSIC
Pfam:CSRNP_N	61	280	5e-106	PFAM
low complexity region	330	349	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000229012

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000229372

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000229596

Predicted Effect

probably benign
Transcript: ENSMUST00000229648

Predicted Effect

probably benign
Transcript: ENSMUST00000230294

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000231001

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000230579

Meta Mutation Damage Score

0.8618

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.5%
20x: 95.9%

Validation Efficiency

100% (55/55)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene belongs to the CSRNP family of nuclear proteins that share conserved regions, including cysteine- and serine- rich regions, a basic domain, a transcriptional activation domain, and bind the sequence 'AGAGTG', thus have the hallmark of transcription factors. Studies in mice suggest that these genes may have redundant functions. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Aug 2011]
PHENOTYPE: Mice homozygous for a knock-out allele are viable, fertile and healthy and display normal development, hematopoiesis and T cell function. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700093K21Rik	T	C	11: 23,466,529 (GRCm39)	T168A	probably damaging	Het
3425401B19Rik	T	A	14: 32,384,010 (GRCm39)	R652W	probably damaging	Het
A530016L24Rik	T	G	12: 112,463,306 (GRCm39)	C43W	probably damaging	Het
Aatk	T	C	11: 119,900,980 (GRCm39)	T1082A	probably benign	Het
Acsl1	T	A	8: 46,945,887 (GRCm39)	F7I	probably benign	Het
Adgb	T	G	10: 10,307,070 (GRCm39)	S299R	possibly damaging	Het
Apob	T	C	12: 8,041,494 (GRCm39)	F738L	possibly damaging	Het
Art3	T	C	5: 92,540,409 (GRCm39)	Y51H	probably damaging	Het
Atr	C	T	9: 95,833,540 (GRCm39)	Q2597*	probably null	Het
Atrn	T	C	2: 130,811,936 (GRCm39)	V627A	probably damaging	Het
Baz1a	T	C	12: 54,947,317 (GRCm39)	K1111E	probably damaging	Het
Ccdc40	T	C	11: 119,122,398 (GRCm39)	S67P	possibly damaging	Het
Cd164	T	C	10: 41,395,948 (GRCm39)		probably null	Het
Cep295	T	C	9: 15,234,154 (GRCm39)	D2214G	probably damaging	Het
Clcn1	A	G	6: 42,284,199 (GRCm39)	Y589C	probably damaging	Het
Col1a2	C	T	6: 4,536,239 (GRCm39)	A998V	unknown	Het
Dhrs7	C	T	12: 72,704,106 (GRCm39)	G130D	probably damaging	Het
Dnah3	T	C	7: 119,677,074 (GRCm39)	T477A	probably benign	Het
Dscam	A	G	16: 96,592,100 (GRCm39)	F725S	probably benign	Het
Dstyk	T	C	1: 132,381,029 (GRCm39)	V508A	probably benign	Het
Eif4g3	A	G	4: 137,879,053 (GRCm39)	E595G	probably damaging	Het
Epha6	A	T	16: 59,639,342 (GRCm39)	V844E	probably damaging	Het
Esrp2	G	A	8: 106,858,750 (GRCm39)	A629V	probably damaging	Het
Fndc3b	A	G	3: 27,483,172 (GRCm39)	S1009P	probably benign	Het
Gm8257	A	T	14: 44,894,706 (GRCm39)	I28N	probably damaging	Het
Ighv5-9-1	T	C	12: 113,700,207 (GRCm39)	E4G	possibly damaging	Het
Ints3	A	G	3: 90,310,855 (GRCm39)	V455A	probably damaging	Het
Lamtor2	A	G	3: 88,458,101 (GRCm39)		probably benign	Het
Npy1r	T	C	8: 67,156,855 (GRCm39)	C92R	probably damaging	Het
Nup210l	T	C	3: 90,098,266 (GRCm39)	V1406A	probably damaging	Het
Or10g7	T	C	9: 39,905,199 (GRCm39)	V31A	probably benign	Het
Or4a75	A	G	2: 89,447,625 (GRCm39)	F304L	probably benign	Het
Or4c108	A	T	2: 88,803,317 (GRCm39)	L306*	probably null	Het
Prune2	A	G	19: 17,096,032 (GRCm39)	D512G	probably damaging	Het
Qdpr	T	C	5: 45,604,979 (GRCm39)	E43G	possibly damaging	Het
Rps6ka5	T	C	12: 100,691,135 (GRCm39)	E2G	unknown	Het
Setd2	A	G	9: 110,431,254 (GRCm39)	T5A	probably damaging	Het
Slc66a2	T	C	18: 80,300,249 (GRCm39)	I40T	probably damaging	Het
Srpk2	TCA	T	5: 23,729,604 (GRCm39)		probably null	Het
Sympk	T	C	7: 18,783,397 (GRCm39)		probably null	Het
Tasor	CGCGGCGGCGGCGGCGG	CGCGGCGGCGGCGGCGGCGGCGG	14: 27,151,080 (GRCm39)		probably benign	Het
Tchh	A	T	3: 93,352,933 (GRCm39)	Q791L	unknown	Het
Tmed11	T	C	5: 108,934,031 (GRCm39)	D55G	probably benign	Het
Tnrc18	T	C	5: 142,719,319 (GRCm39)	D1989G	unknown	Het
Utp20	A	T	10: 88,644,979 (GRCm39)	H582Q	probably benign	Het
Utrn	A	G	10: 12,317,762 (GRCm39)	I554T	probably damaging	Het
Zfp1005	A	T	2: 150,110,425 (GRCm39)	R372*	probably null	Het
Zfp119a	T	C	17: 56,175,336 (GRCm39)	E53G	probably benign	Het

Other mutations in Csrnp2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01617:Csrnp2	APN	15	100,382,524 (GRCm39)	missense	probably benign	0.21
R0674:Csrnp2	UTSW	15	100,385,872 (GRCm39)	missense	probably damaging	1.00
R1988:Csrnp2	UTSW	15	100,387,321 (GRCm39)	missense	probably damaging	1.00
R3683:Csrnp2	UTSW	15	100,379,879 (GRCm39)	missense	probably benign
R4688:Csrnp2	UTSW	15	100,380,241 (GRCm39)	missense	probably damaging	0.97
R4846:Csrnp2	UTSW	15	100,382,571 (GRCm39)	missense	probably damaging	1.00
R5429:Csrnp2	UTSW	15	100,379,935 (GRCm39)	missense	probably benign
R6056:Csrnp2	UTSW	15	100,380,263 (GRCm39)	missense	probably benign	0.23
R6765:Csrnp2	UTSW	15	100,380,574 (GRCm39)	missense	probably damaging	1.00
R6925:Csrnp2	UTSW	15	100,379,839 (GRCm39)	missense	probably benign	0.03
R7513:Csrnp2	UTSW	15	100,380,297 (GRCm39)	missense	probably benign	0.10
R7697:Csrnp2	UTSW	15	100,385,953 (GRCm39)	missense	probably damaging	1.00
R8081:Csrnp2	UTSW	15	100,387,462 (GRCm39)	missense	probably damaging	0.98
R9582:Csrnp2	UTSW	15	100,386,067 (GRCm39)	missense	possibly damaging	0.94
X0020:Csrnp2	UTSW	15	100,382,584 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- ACATCTTTGTTCTGGCGGCC -3'
(R):5'- TCAGCTGCTCTCTGTAAGCC -3'

Sequencing Primer
(F):5'- GCCCAGAGAGCTCGGTAC -3'
(R):5'- AAACTCCTGCCCGAGGACTG -3'

Posted On

2016-11-09