Mutagenetix > Incidental Mutation

Incidental Mutation 'R5233:Csrnp3'

398081

Institutional Source

Beutler Lab

Gene Symbol

Csrnp3

Ensembl Gene

ENSMUSG00000044647

Gene Name

cysteine-serine-rich nuclear protein 3

Synonyms

mbu1, CSRNP-3, A330102K23Rik

MMRRC Submission

042805-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.154) question?

Stock #

R5233 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

65676111-65861890 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 65852684 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 359 (T359A)

Ref Sequence

ENSEMBL: ENSMUSP00000135019 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000053910] [ENSMUST00000112394] [ENSMUST00000112397] [ENSMUST00000122912] [ENSMUST00000145598] [ENSMUST00000176109]

AlphaFold

P59055

Predicted Effect

possibly damaging
Transcript: ENSMUST00000053910
AA Change: T371A

PolyPhen 2 Score 0.947 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000055719
Gene: ENSMUSG00000044647
AA Change: T371A

Domain	Start	End	E-Value	Type
low complexity region	31	52	N/A	INTRINSIC
low complexity region	123	140	N/A	INTRINSIC
low complexity region	161	176	N/A	INTRINSIC
Blast:CXC	221	268	3e-15	BLAST
low complexity region	342	359	N/A	INTRINSIC
low complexity region	377	400	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000112394
AA Change: T359A

PolyPhen 2 Score 0.947 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000108013
Gene: ENSMUSG00000044647
AA Change: T359A

Domain	Start	End	E-Value	Type
low complexity region	19	40	N/A	INTRINSIC
low complexity region	111	128	N/A	INTRINSIC
low complexity region	149	164	N/A	INTRINSIC
Blast:CXC	209	256	3e-15	BLAST
low complexity region	330	347	N/A	INTRINSIC
low complexity region	365	388	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000112397

SMART Domains

Protein: ENSMUSP00000135151
Gene: ENSMUSG00000044647

Domain	Start	End	E-Value	Type
low complexity region	31	52	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000122912
AA Change: T371A

PolyPhen 2 Score 0.947 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000117533
Gene: ENSMUSG00000044647
AA Change: T371A

Domain	Start	End	E-Value	Type
low complexity region	31	52	N/A	INTRINSIC
Pfam:CSRNP_N	70	291	5e-107	PFAM
low complexity region	342	359	N/A	INTRINSIC
low complexity region	377	400	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000145598
AA Change: T359A

PolyPhen 2 Score 0.947 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000135605
Gene: ENSMUSG00000044647
AA Change: T359A

Domain	Start	End	E-Value	Type
low complexity region	19	40	N/A	INTRINSIC
low complexity region	111	128	N/A	INTRINSIC
low complexity region	149	164	N/A	INTRINSIC
Blast:CXC	209	256	3e-15	BLAST
low complexity region	330	347	N/A	INTRINSIC
low complexity region	365	388	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000176109
AA Change: T359A

PolyPhen 2 Score 0.947 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000135019
Gene: ENSMUSG00000044647
AA Change: T359A

Domain	Start	End	E-Value	Type
low complexity region	19	40	N/A	INTRINSIC
low complexity region	111	128	N/A	INTRINSIC
low complexity region	149	164	N/A	INTRINSIC
Blast:CXC	209	256	3e-15	BLAST
low complexity region	330	347	N/A	INTRINSIC
low complexity region	365	388	N/A	INTRINSIC

Meta Mutation Damage Score

0.1154

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.0%
20x: 94.9%

Validation Efficiency

100% (56/56)

MGI Phenotype

PHENOTYPE: Mice homozygous for a knock-out allele exhibit normal development, hematopoiesis and T cell function. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9030619P08Rik	T	A	15: 75,301,801 (GRCm39)		noncoding transcript	Het
Aadat	A	G	8: 60,979,656 (GRCm39)	I173V	probably benign	Het
Acsl6	G	A	11: 54,216,432 (GRCm39)	V200I	possibly damaging	Het
Alms1	T	A	6: 85,633,353 (GRCm39)		probably null	Het
Arhgef17	A	T	7: 100,530,576 (GRCm39)	D1403E	possibly damaging	Het
Atp10b	A	G	11: 43,121,387 (GRCm39)	T1017A	probably benign	Het
Capg	C	T	6: 72,532,509 (GRCm39)	R25C	probably damaging	Het
Cd22	A	G	7: 30,576,959 (GRCm39)	I116T	probably damaging	Het
Cep135	AGTCTGCCTTTGG	A	5: 76,739,690 (GRCm39)		probably benign	Het
Ciita	A	T	16: 10,327,265 (GRCm39)	I277F	possibly damaging	Het
Col15a1	T	C	4: 47,296,112 (GRCm39)	V943A	possibly damaging	Het
Coq2	G	A	5: 100,805,698 (GRCm39)	H313Y	possibly damaging	Het
Csn3	C	T	5: 88,077,694 (GRCm39)	P67S	probably benign	Het
Cttnbp2nl	A	G	3: 104,912,357 (GRCm39)	L509P	probably damaging	Het
Dclk3	A	G	9: 111,297,749 (GRCm39)	D431G	probably benign	Het
Dtx3l	A	T	16: 35,753,608 (GRCm39)	C333S	possibly damaging	Het
Ear-ps2	G	A	14: 44,284,517 (GRCm39)		noncoding transcript	Het
Fam171a1	G	C	2: 3,179,390 (GRCm39)	G72A	probably damaging	Het
Fbxw17	T	C	13: 50,586,390 (GRCm39)		probably benign	Het
Fry	A	G	5: 150,393,185 (GRCm39)	D605G	possibly damaging	Het
Fyn	T	C	10: 39,405,936 (GRCm39)	F240S	probably benign	Het
Gcfc2	T	C	6: 81,930,271 (GRCm39)	L646P	probably damaging	Het
Gm5087	C	T	14: 13,158,788 (GRCm38)		noncoding transcript	Het
Got2	T	A	8: 96,602,477 (GRCm39)	N91I	probably benign	Het
Hspa4	C	T	11: 53,177,802 (GRCm39)	V103I	possibly damaging	Het
Itgad	A	G	7: 127,792,600 (GRCm39)		probably null	Het
Krt33a	A	G	11: 99,904,961 (GRCm39)	S182P	probably damaging	Het
Mcph1	T	C	8: 18,721,254 (GRCm39)	I694T	probably damaging	Het
Mmp15	T	C	8: 96,097,696 (GRCm39)	V502A	probably benign	Het
Mov10l1	T	C	15: 88,867,235 (GRCm39)	V23A	probably benign	Het
Myo9a	T	A	9: 59,817,900 (GRCm39)	N2322K	probably damaging	Het
Ndst4	A	G	3: 125,503,766 (GRCm39)	Y11C	probably damaging	Het
Nell1	T	C	7: 49,826,062 (GRCm39)	F199S	probably damaging	Het
Nup210	C	T	6: 91,003,951 (GRCm39)	V646M	probably damaging	Het
Nup98	A	T	7: 101,845,029 (GRCm39)	S13R	unknown	Het
Nxf1	T	C	19: 8,741,293 (GRCm39)	I54T	possibly damaging	Het
Or8b38	A	G	9: 37,973,446 (GRCm39)	T277A	probably damaging	Het
Pcdh10	C	A	3: 45,338,626 (GRCm39)	R928S	probably damaging	Het
Pou3f3	A	G	1: 42,737,438 (GRCm39)	N378S	probably benign	Het
Rfx6	T	A	10: 51,588,187 (GRCm39)	Y109*	probably null	Het
Rorc	T	A	3: 94,304,632 (GRCm39)	V339D	probably benign	Het
Scin	T	A	12: 40,127,558 (GRCm39)	I411F	probably benign	Het
Serpind1	A	G	16: 17,154,758 (GRCm39)	Y195C	probably damaging	Het
Tas2r117	T	C	6: 132,780,585 (GRCm39)	V241A	possibly damaging	Het
Tet3	T	A	6: 83,363,045 (GRCm39)	E709V	probably damaging	Het
Trbc1	T	A	6: 41,515,383 (GRCm39)		probably benign	Het
Vmn1r212	C	A	13: 23,067,304 (GRCm39)	G343V	unknown	Het
Vmn2r42	T	A	7: 8,197,837 (GRCm39)	K261*	probably null	Het
Xrcc5	T	A	1: 72,379,209 (GRCm39)	L438Q	probably damaging	Het
Zfp142	T	C	1: 74,624,608 (GRCm39)	N72S	probably damaging	Het
Zfp292	A	T	4: 34,809,755 (GRCm39)	S1096R	probably damaging	Het

Other mutations in Csrnp3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01676:Csrnp3	APN	2	65,779,336 (GRCm39)	missense	probably damaging	0.99
IGL02427:Csrnp3	APN	2	65,708,380 (GRCm39)	utr 5 prime	probably benign
IGL02558:Csrnp3	APN	2	65,852,573 (GRCm39)	missense	probably damaging	1.00
IGL02605:Csrnp3	APN	2	65,853,153 (GRCm39)	missense	probably damaging	1.00
Uncle	UTSW	2	65,852,615 (GRCm39)	missense	probably benign	0.34
IGL02984:Csrnp3	UTSW	2	65,852,553 (GRCm39)	missense	probably benign	0.37
R0417:Csrnp3	UTSW	2	65,849,887 (GRCm39)	missense	probably benign	0.43
R0709:Csrnp3	UTSW	2	65,852,907 (GRCm39)	missense	probably damaging	0.99
R1340:Csrnp3	UTSW	2	65,832,740 (GRCm39)	missense	probably damaging	1.00
R1712:Csrnp3	UTSW	2	65,832,826 (GRCm39)	missense	probably damaging	1.00
R1960:Csrnp3	UTSW	2	65,853,363 (GRCm39)	missense	probably null	1.00
R1997:Csrnp3	UTSW	2	65,779,446 (GRCm39)	missense	probably damaging	1.00
R4839:Csrnp3	UTSW	2	65,852,375 (GRCm39)	nonsense	probably null
R5340:Csrnp3	UTSW	2	65,852,781 (GRCm39)	missense	probably benign	0.00
R6157:Csrnp3	UTSW	2	65,779,363 (GRCm39)	missense	probably damaging	1.00
R6781:Csrnp3	UTSW	2	65,852,615 (GRCm39)	missense	probably benign	0.34
R6974:Csrnp3	UTSW	2	65,779,408 (GRCm39)	missense	possibly damaging	0.59
R7120:Csrnp3	UTSW	2	65,853,354 (GRCm39)	missense	probably damaging	1.00
R7293:Csrnp3	UTSW	2	65,779,344 (GRCm39)	missense	probably damaging	1.00
R8250:Csrnp3	UTSW	2	65,852,562 (GRCm39)	missense	probably damaging	0.99
R8478:Csrnp3	UTSW	2	65,708,400 (GRCm39)	splice site	probably null
R8899:Csrnp3	UTSW	2	65,852,987 (GRCm39)	missense	possibly damaging	0.71
R9396:Csrnp3	UTSW	2	65,832,841 (GRCm39)	missense	probably damaging	1.00
R9477:Csrnp3	UTSW	2	65,852,819 (GRCm39)	missense	probably benign	0.01

Predicted Primers

PCR Primer
(F):5'- ATAAGCGCCCATGGTCCTTC -3'
(R):5'- AGAGAGCTGGCTAGGAGTTC -3'

Sequencing Primer
(F):5'- TTCCATGGGCCCTGTCG -3'
(R):5'- TCATGAACTGCGGTGCCATC -3'

Posted On

2016-07-06