Mutagenetix > Incidental Mutation

Incidental Mutation 'R7697:Csrnp2'

593736

Institutional Source

Beutler Lab

Gene Symbol

Csrnp2

Ensembl Gene

ENSMUSG00000044636

Gene Name

cysteine-serine-rich nuclear protein 2

Synonyms

CSRNP-2

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7697 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

100377451-100393120 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 100385953 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Lysine at position 95 (M95K)

Ref Sequence

ENSEMBL: ENSMUSP00000052144 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000061457]

AlphaFold

Q8BGQ2

Predicted Effect

probably damaging
Transcript: ENSMUST00000061457
AA Change: M95K

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000052144
Gene: ENSMUSG00000044636
AA Change: M95K

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.3%

Validation Efficiency

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: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abhd4	T	C	14: 54,500,216 (GRCm39)	V87A	probably damaging	Het
Acadsb	A	G	7: 131,031,698 (GRCm39)	E178G	probably damaging	Het
Acoxl	A	G	2: 127,820,702 (GRCm39)	T365A	probably benign	Het
Adcy8	T	G	15: 64,618,850 (GRCm39)	I768L	probably benign	Het
Bloc1s4	A	G	5: 36,905,959 (GRCm39)	S11P	probably benign	Het
Brinp2	T	C	1: 158,095,496 (GRCm39)	I122V	probably benign	Het
Brwd1	T	C	16: 95,847,601 (GRCm39)	D673G	probably benign	Het
Cbx8	C	A	11: 118,931,637 (GRCm39)	E14*	probably null	Het
Cep295	T	A	9: 15,266,006 (GRCm39)	M49L	probably benign	Het
Cfap157	T	C	2: 32,669,765 (GRCm39)	N273D	probably benign	Het
Cntn3	A	T	6: 102,185,127 (GRCm39)	V663E	probably damaging	Het
Cntn3	C	T	6: 102,185,128 (GRCm39)	V663M	probably damaging	Het
Cspg5	G	C	9: 110,085,294 (GRCm39)	R488S	probably damaging	Het
Dnah3	A	T	7: 119,566,657 (GRCm39)	V136E		Het
Drg2	T	A	11: 60,353,003 (GRCm39)	I212N	probably damaging	Het
Egfem1	T	C	3: 29,744,346 (GRCm39)		probably null	Het
Eif1ad18	T	C	12: 88,050,749 (GRCm39)	Y95H	probably damaging	Het
Enpep	T	A	3: 129,102,750 (GRCm39)	D402V	probably damaging	Het
Fanci	T	A	7: 79,056,040 (GRCm39)		probably null	Het
Fgd6	T	A	10: 93,881,306 (GRCm39)	V720D	probably damaging	Het
Fhod1	T	A	8: 106,074,563 (GRCm39)		probably benign	Het
Flnc	T	A	6: 29,456,516 (GRCm39)	I2238N	probably damaging	Het
Frmd4a	A	G	2: 4,488,892 (GRCm39)	E79G	probably damaging	Het
Gabrr2	A	T	4: 33,071,358 (GRCm39)	Y66F	probably benign	Het
Ggnbp1	T	G	17: 27,249,736 (GRCm39)	I192S	probably benign	Het
Gm32742	C	T	9: 51,058,901 (GRCm39)	V1039I	probably benign	Het
H2-D1	T	C	17: 35,482,121 (GRCm39)	L11P	probably damaging	Het
Hsd17b4	A	G	18: 50,263,208 (GRCm39)	Y25C	probably damaging	Het
Ildr2	C	A	1: 166,122,300 (GRCm39)	Q248K	probably benign	Het
Klrb1c	T	C	6: 128,757,273 (GRCm39)	H264R	probably benign	Het
Lrp11	C	T	10: 7,479,983 (GRCm39)	A346V	probably benign	Het
Mast4	G	A	13: 102,875,711 (GRCm39)	P1319L	probably damaging	Het
Mcm9	A	C	10: 53,491,990 (GRCm39)	F392V		Het
Med12l	C	T	3: 59,148,078 (GRCm39)	A965V	probably damaging	Het
Mrps7	A	G	11: 115,495,701 (GRCm39)	T80A	probably benign	Het
Mtor	T	A	4: 148,624,765 (GRCm39)	Y2125*	probably null	Het
Myoc	A	G	1: 162,475,049 (GRCm39)	E200G	probably damaging	Het
Natd1	A	G	11: 60,797,808 (GRCm39)	V39A	probably damaging	Het
Notch4	C	T	17: 34,789,159 (GRCm39)	T486I	probably damaging	Het
Or10am5	T	C	7: 6,517,645 (GRCm39)	Y261C	probably damaging	Het
Or10n1	A	G	9: 39,525,157 (GRCm39)	Q98R	probably damaging	Het
Or2c1	G	A	16: 3,657,430 (GRCm39)	V198M	probably damaging	Het
Or5aq6	T	A	2: 86,923,162 (GRCm39)	H193L	probably benign	Het
Pdss2	T	A	10: 43,221,544 (GRCm39)	I152N	probably damaging	Het
Peg10	C	CTCA	6: 4,756,453 (GRCm39)		probably benign	Het
Plec	T	C	15: 76,065,885 (GRCm39)	E1395G	unknown	Het
Polr2b	T	C	5: 77,468,059 (GRCm39)	Y120H	probably damaging	Het
Pyroxd2	C	T	19: 42,735,805 (GRCm39)	C99Y	probably benign	Het
Rela	T	C	19: 5,691,630 (GRCm39)	V268A	probably damaging	Het
Rgs3	C	T	4: 62,575,379 (GRCm39)	P589S	probably benign	Het
Rtn1	A	G	12: 72,455,151 (GRCm39)	S59P	probably benign	Het
Siae	A	G	9: 37,544,950 (GRCm39)	Y315C	probably damaging	Het
Susd3	C	A	13: 49,391,074 (GRCm39)	W147L	probably damaging	Het
Ttn	A	T	2: 76,702,047 (GRCm39)		probably null	Het
Ubr3	A	G	2: 69,728,030 (GRCm39)	Y131C	probably damaging	Het
Unc80	C	T	1: 66,677,104 (GRCm39)	P2011L	possibly damaging	Het
Usp9y	T	C	Y: 1,316,990 (GRCm39)	E1853G	possibly damaging	Het
Wls	C	A	3: 159,616,955 (GRCm39)	H331Q	probably benign	Het
Xkr6	C	A	14: 63,844,628 (GRCm39)	P217Q	probably damaging	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
R5678:Csrnp2	UTSW	15	100,379,685 (GRCm39)	makesense	probably null
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
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'- CAGGCAGGCACCTTCATTTC -3'
(R):5'- AGAGCCTCCCTCGATACTAAGG -3'

Sequencing Primer
(F):5'- GCAGGCACCTTCATTTCACCAG -3'
(R):5'- CCTCGATACTAAGGGCAGGTG -3'

Posted On

2019-11-12