Mutagenetix > Incidental Mutation

Incidental Mutation 'R1530:Csrnp1'

166558

Institutional Source

Beutler Lab

Gene Symbol

Csrnp1

Ensembl Gene

ENSMUSG00000032515

Gene Name

cysteine-serine-rich nuclear protein 1

Synonyms

taip-3, Axud1, 4931429D10Rik, CSRNP-1

MMRRC Submission

039569-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R1530 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

119800229-119813724 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to C at 119802612 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Glutamic Acid at position 200 (Q200E)

Ref Sequence

ENSEMBL: ENSMUSP00000149214 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000035101] [ENSMUST00000177637] [ENSMUST00000213936] [ENSMUST00000214058] [ENSMUST00000215916] [ENSMUST00000216929]

AlphaFold

P59054

Predicted Effect

possibly damaging
Transcript: ENSMUST00000035101
AA Change: Q200E

PolyPhen 2 Score 0.688 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000035101
Gene: ENSMUSG00000032515
AA Change: Q200E

Domain	Start	End	E-Value	Type
low complexity region	17	41	N/A	INTRINSIC
Pfam:CSRNP_N	79	304	1.6e-93	PFAM
low complexity region	327	361	N/A	INTRINSIC
low complexity region	398	410	N/A	INTRINSIC
low complexity region	463	482	N/A	INTRINSIC
low complexity region	487	499	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000177637

SMART Domains

Protein: ENSMUSP00000136413
Gene: ENSMUSG00000052336

Domain	Start	End	E-Value	Type
Pfam:7tm_1	49	294	3.5e-50	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000213936

Predicted Effect

possibly damaging
Transcript: ENSMUST00000214058
AA Change: Q200E

PolyPhen 2 Score 0.688 (Sensitivity: 0.86; Specificity: 0.92)

Predicted Effect

possibly damaging
Transcript: ENSMUST00000215916
AA Change: Q200E

PolyPhen 2 Score 0.688 (Sensitivity: 0.86; Specificity: 0.92)

Predicted Effect

probably benign
Transcript: ENSMUST00000216929

Coding Region Coverage

1x: 99.2%
3x: 98.4%
10x: 96.5%
20x: 93.6%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein that localizes to the nucleus and expression of this gene is induced in response to elevated levels of axin. The Wnt signalling pathway, which is negatively regulated by axin, is important in axis formation in early development and impaired regulation of this signalling pathway is often involved in tumors. A decreased level of expression of this gene in tumors compared to the level of expression in their corresponding normal tissues suggests that this gene product has a tumor suppressor function. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2016]
PHENOTYPE: Mice homozygous for a gene trapped allele exhibit postnatal lethality and skeletal and craniofacial defects. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 74 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Actl6b	T	C	5: 137,567,640 (GRCm39)	C425R	probably damaging	Het
Adam15	A	G	3: 89,257,137 (GRCm39)	S20P	probably damaging	Het
Adgra3	G	A	5: 50,118,479 (GRCm39)	T1023I	probably benign	Het
Angel2	T	A	1: 190,671,285 (GRCm39)	V46E	probably damaging	Het
Ankrd13c	T	A	3: 157,697,358 (GRCm39)	M321K	probably damaging	Het
Atad2b	C	T	12: 4,992,018 (GRCm39)	R206*	probably null	Het
Atp10b	T	A	11: 43,088,351 (GRCm39)	F319Y	probably benign	Het
AW554918	A	G	18: 25,533,161 (GRCm39)	R272G	probably damaging	Het
Bpi	T	A	2: 158,103,065 (GRCm39)	I70N	probably damaging	Het
Brca1	T	C	11: 101,415,521 (GRCm39)	D871G	probably damaging	Het
Capn3	G	A	2: 120,312,689 (GRCm39)	A160T	probably damaging	Het
Cenpe	T	C	3: 134,952,663 (GRCm39)	L1451P	possibly damaging	Het
Chmp7	A	G	14: 69,969,937 (GRCm39)	M1T	probably null	Het
Dscam	G	A	16: 96,621,074 (GRCm39)	P545S	probably damaging	Het
Erap1	A	G	13: 74,794,662 (GRCm39)	E107G	probably benign	Het
Errfi1	A	G	4: 150,949,843 (GRCm39)	I49V	probably benign	Het
Fam171b	T	C	2: 83,710,533 (GRCm39)	L735S	probably damaging	Het
Fancm	T	A	12: 65,139,264 (GRCm39)		probably null	Het
Fbp2	G	C	13: 62,984,973 (GRCm39)	P316R	probably damaging	Het
Fcer2a	C	A	8: 3,732,976 (GRCm39)	G255V	probably damaging	Het
Fhip2a	T	A	19: 57,374,737 (GRCm39)	I704N	probably damaging	Het
Fzd2	T	C	11: 102,496,134 (GRCm39)	S193P	probably benign	Het
Gak	A	G	5: 108,772,059 (GRCm39)	V86A	probably damaging	Het
Gas2l3	A	G	10: 89,269,631 (GRCm39)	I7T	probably benign	Het
Gbp11	T	C	5: 105,475,355 (GRCm39)	H331R	probably damaging	Het
Gpr19	C	T	6: 134,846,961 (GRCm39)	V241M	probably damaging	Het
Grk6	G	A	13: 55,606,612 (GRCm39)	A437T	probably damaging	Het
Hip1	T	C	5: 135,473,634 (GRCm39)	D253G	probably damaging	Het
Ifna9	G	C	4: 88,510,409 (GRCm39)	Q72E	possibly damaging	Het
Il1r1	A	G	1: 40,351,521 (GRCm39)	T384A	probably benign	Het
Ip6k1	C	A	9: 107,922,761 (GRCm39)	C221*	probably null	Het
Kcna1	C	A	6: 126,619,494 (GRCm39)	E275D	probably benign	Het
Kcnt2	C	T	1: 140,411,970 (GRCm39)	Q468*	probably null	Het
Kin	T	C	2: 10,097,150 (GRCm39)	V333A	probably damaging	Het
Leprot	G	T	4: 101,513,484 (GRCm39)	V91L	probably benign	Het
Mettl21c	A	G	1: 44,056,344 (GRCm39)		probably null	Het
Myom2	T	C	8: 15,172,384 (GRCm39)	F1161S	probably damaging	Het
Ndor1	A	G	2: 25,138,921 (GRCm39)	L321P	probably benign	Het
Nipal2	A	T	15: 34,625,168 (GRCm39)	*72K	probably null	Het
Nol3	T	C	8: 106,005,858 (GRCm39)	V84A	probably benign	Het
Or2y16	C	T	11: 49,334,732 (GRCm39)	S18L	probably benign	Het
Or4c101	A	T	2: 88,389,827 (GRCm39)	I5F	probably benign	Het
Or8b42	T	C	9: 38,341,620 (GRCm39)	I14T	probably damaging	Het
Pcare	A	G	17: 72,056,473 (GRCm39)	V1068A	probably benign	Het
Pdgfra	T	A	5: 75,349,671 (GRCm39)		probably null	Het
Pik3cb	T	C	9: 98,936,026 (GRCm39)	D802G	probably damaging	Het
Plac8l1	A	T	18: 42,311,996 (GRCm39)	V141E	probably damaging	Het
Plxnb2	A	G	15: 89,051,395 (GRCm39)	S275P	probably benign	Het
Prl3b1	G	A	13: 27,427,848 (GRCm39)	A53T	probably benign	Het
Rapgef6	T	A	11: 54,552,009 (GRCm39)	I959K	probably damaging	Het
Scn5a	T	C	9: 119,324,628 (GRCm39)	K1400R	probably damaging	Het
Sel1l	A	G	12: 91,793,458 (GRCm39)	S263P	probably damaging	Het
Setd5	G	A	6: 113,086,874 (GRCm39)	V34I	probably damaging	Het
Slc34a1	A	G	13: 24,003,052 (GRCm39)	D234G	probably damaging	Het
Spink5	T	A	18: 44,148,738 (GRCm39)	S934T	probably damaging	Het
St18	A	C	1: 6,915,793 (GRCm39)		probably null	Het
St3gal4	T	C	9: 34,963,592 (GRCm39)	I239V	probably benign	Het
Stag3	C	T	5: 138,295,674 (GRCm39)	T399I	probably damaging	Het
Syt11	T	C	3: 88,669,674 (GRCm39)	K6E	probably damaging	Het
Taf15	T	C	11: 83,378,122 (GRCm39)	Y121H	possibly damaging	Het
Tdh	T	C	14: 63,733,504 (GRCm39)	Y113C	probably damaging	Het
Tgfbr1	T	A	4: 47,410,688 (GRCm39)	W406R	probably damaging	Het
Tgm6	A	G	2: 129,993,202 (GRCm39)	I563V	possibly damaging	Het
Tmem131	A	G	1: 36,866,090 (GRCm39)		probably null	Het
Tmub2	T	C	11: 102,178,312 (GRCm39)	S72P	probably benign	Het
Trappc13	G	A	13: 104,286,651 (GRCm39)	T202I	probably damaging	Het
Trim9	T	C	12: 70,319,202 (GRCm39)	E449G	probably damaging	Het
Trip11	C	A	12: 101,879,026 (GRCm39)	G21V	unknown	Het
Ttll12	G	A	15: 83,472,856 (GRCm39)	R127C	probably damaging	Het
Vmn2r125	A	T	4: 156,703,447 (GRCm39)	Y275F	probably damaging	Het
Xrcc5	A	G	1: 72,369,103 (GRCm39)	D319G	probably damaging	Het
Zc3h14	T	G	12: 98,751,262 (GRCm39)	C159W	probably damaging	Het
Zc3h7b	C	T	15: 81,661,289 (GRCm39)	P376L	probably benign	Het
Zfhx3	C	T	8: 109,675,121 (GRCm39)	P2057L	probably damaging	Het

Other mutations in Csrnp1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01459:Csrnp1	APN	9	119,802,024 (GRCm39)	missense	probably damaging	1.00
IGL02348:Csrnp1	APN	9	119,801,709 (GRCm39)	missense	probably damaging	1.00
R0463:Csrnp1	UTSW	9	119,801,841 (GRCm39)	unclassified	probably benign
R3901:Csrnp1	UTSW	9	119,801,707 (GRCm39)	missense	probably damaging	1.00
R5851:Csrnp1	UTSW	9	119,802,144 (GRCm39)	missense	possibly damaging	0.93
R6101:Csrnp1	UTSW	9	119,802,551 (GRCm39)	missense	probably damaging	0.97
R7621:Csrnp1	UTSW	9	119,806,158 (GRCm39)	missense	probably benign	0.12
R7658:Csrnp1	UTSW	9	119,801,469 (GRCm39)	missense	probably benign
R8122:Csrnp1	UTSW	9	119,802,273 (GRCm39)	missense	probably damaging	1.00
R9322:Csrnp1	UTSW	9	119,801,853 (GRCm39)	missense	probably damaging	1.00
R9352:Csrnp1	UTSW	9	119,801,997 (GRCm39)	missense	probably benign	0.18
R9768:Csrnp1	UTSW	9	119,801,819 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- ACCACGCACCTGGCACTTAATG -3'
(R):5'- TAGCTGTGGAGCACAGTGTGTACC -3'

Sequencing Primer
(F):5'- AGACGCCATCACAGTGACAA -3'
(R):5'- CACTCTCTGGGAGAGCTAAATC -3'

Posted On

2014-04-13