Mutagenetix > Incidental Mutation

Incidental Mutation 'R0674:Csrnp2'

218593

Institutional Source

Beutler Lab

Gene Symbol

Csrnp2

Ensembl Gene

ENSMUSG00000044636

Gene Name

cysteine-serine-rich nuclear protein 2

Synonyms

CSRNP-2

MMRRC Submission

038859-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0674 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

100377451-100393120 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 100385872 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Histidine at position 122 (L122H)

Ref Sequence

ENSEMBL: ENSMUSP00000052144 (fasta)

Gene Model

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

AlphaFold

Q8BGQ2

Predicted Effect

probably damaging
Transcript: ENSMUST00000061457
AA Change: L122H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000052144
Gene: ENSMUSG00000044636
AA Change: L122H

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

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 99.2%
3x: 98.4%
10x: 96.3%
20x: 90.4%

Validation Efficiency

97% (124/128)

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: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adar	A	G	3: 89,657,130 (GRCm39)		probably benign	Het
Adgrl2	A	T	3: 148,543,315 (GRCm39)	M803K	possibly damaging	Het
Atp13a5	T	C	16: 29,067,102 (GRCm39)		probably benign	Het
Atp2a3	T	C	11: 72,872,711 (GRCm39)	I753T	probably damaging	Het
Bace2	G	A	16: 97,237,949 (GRCm39)	V467M	possibly damaging	Het
Bltp1	T	A	3: 37,098,775 (GRCm39)	V1134E	possibly damaging	Het
Ccser2	A	G	14: 36,640,548 (GRCm39)	C11R	possibly damaging	Het
Cd2ap	T	A	17: 43,156,283 (GRCm39)	I85F	possibly damaging	Het
Cd2bp2	C	T	7: 126,794,008 (GRCm39)	E94K	probably damaging	Het
Chrna3	C	A	9: 54,922,456 (GRCm39)	A451S	probably damaging	Het
Cmya5	C	A	13: 93,229,299 (GRCm39)	V1930F	probably damaging	Het
Csmd1	T	C	8: 16,050,550 (GRCm39)	T2229A	probably benign	Het
Cyp11b2	G	A	15: 74,727,393 (GRCm39)	P96L	probably damaging	Het
Ddr1	G	T	17: 36,000,561 (GRCm39)	S368*	probably null	Het
E2f1	T	C	2: 154,406,029 (GRCm39)	K115E	probably damaging	Het
Erlec1	A	T	11: 30,885,073 (GRCm39)		probably benign	Het
Fus	T	A	7: 127,571,948 (GRCm39)		probably benign	Het
Gml	G	A	15: 74,685,709 (GRCm39)	T92I	probably damaging	Het
Herc1	T	C	9: 66,408,474 (GRCm39)	S4567P	probably damaging	Het
Iglc2	A	G	16: 19,017,591 (GRCm39)	S5P	probably benign	Het
Itgam	T	C	7: 127,715,390 (GRCm39)	V1028A	possibly damaging	Het
Krt222	T	A	11: 99,127,086 (GRCm39)	N178I	probably benign	Het
Krt81	C	A	15: 101,361,508 (GRCm39)	R24L	possibly damaging	Het
Luzp1	C	T	4: 136,270,768 (GRCm39)	T997I	possibly damaging	Het
Maml1	G	T	11: 50,148,885 (GRCm39)	Q952K	probably benign	Het
Map2	A	G	1: 66,452,361 (GRCm39)	E499G	probably damaging	Het
Map4k4	A	T	1: 40,042,975 (GRCm39)	H118L	probably damaging	Het
Myzap	T	C	9: 71,422,426 (GRCm39)	D382G	probably damaging	Het
Naip5	T	C	13: 100,359,707 (GRCm39)	T510A	probably benign	Het
Nek6	G	C	2: 38,448,916 (GRCm39)	G95R	possibly damaging	Het
Nphp3	T	C	9: 103,913,481 (GRCm39)		probably null	Het
Nr1d2	T	C	14: 18,215,086 (GRCm38)	S309G	probably benign	Het
Nrcam	A	T	12: 44,611,105 (GRCm39)	I570F	probably benign	Het
Oas1d	T	C	5: 121,058,049 (GRCm39)	I331T	probably benign	Het
Or2h2c	G	C	17: 37,422,347 (GRCm39)	L176V	probably benign	Het
Or4f14	A	T	2: 111,743,018 (GRCm39)	F86I	probably benign	Het
Or51b6	T	C	7: 103,556,462 (GRCm39)	V272A	probably benign	Het
Pex5l	A	T	3: 33,006,765 (GRCm39)	W535R	probably damaging	Het
Pisd	C	T	5: 32,931,781 (GRCm39)	R202H	probably benign	Het
Plxna2	A	G	1: 194,331,783 (GRCm39)	N403S	probably benign	Het
Prdm12	A	G	2: 31,533,924 (GRCm39)	I180M	probably benign	Het
Prpf6	A	G	2: 181,273,767 (GRCm39)	T304A	probably benign	Het
Ptprm	G	A	17: 67,498,336 (GRCm39)	T35I	possibly damaging	Het
Ptx3	T	A	3: 66,132,148 (GRCm39)	I223N	probably damaging	Het
Pygb	G	A	2: 150,657,054 (GRCm39)		probably null	Het
Qrsl1	A	G	10: 43,771,997 (GRCm39)		probably benign	Het
Rad51ap2	T	C	12: 11,508,818 (GRCm39)		probably null	Het
Ralbp1	C	T	17: 66,159,748 (GRCm39)	R505H	probably benign	Het
Rimbp3	T	C	16: 17,030,601 (GRCm39)	S1342P	probably benign	Het
Slc22a14	C	A	9: 119,007,608 (GRCm39)	R267L	probably damaging	Het
Slco6c1	T	A	1: 97,032,498 (GRCm39)		probably benign	Het
Tcp1	T	C	17: 13,142,131 (GRCm39)	I375T	probably damaging	Het
Tiparp	T	C	3: 65,460,586 (GRCm39)	I525T	probably benign	Het
Tjp2	A	G	19: 24,108,680 (GRCm39)	L144P	probably benign	Het
Tssk2	A	G	16: 17,716,930 (GRCm39)	D111G	probably benign	Het
Ttn	T	C	2: 76,775,823 (GRCm39)	T1740A	possibly damaging	Het
Vmn2r102	T	A	17: 19,898,129 (GRCm39)	D381E	probably benign	Het
Vsig10	C	T	5: 117,481,911 (GRCm39)	T367M	probably damaging	Het
Wnt11	T	C	7: 98,495,735 (GRCm39)	C80R	probably damaging	Het
Zar1	T	A	5: 72,737,643 (GRCm39)		probably null	Het
Zfp52	A	T	17: 21,782,108 (GRCm39)	H652L	probably damaging	Het
Zpr1	T	A	9: 46,186,747 (GRCm39)	L194Q	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
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
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'- ACAGGCAGGCACCTTCATTTCC -3'
(R):5'- CATCCATCCTGAAGAGGCAGAAGC -3'

Sequencing Primer
(F):5'- TTTCCCCAGAGCCCACG -3'
(R):5'- CTACGGAGGAAGAATGTCCGC -3'

Posted On

2014-08-18