Mutagenetix > Incidental Mutation

Incidental Mutation 'R6120:Csrp2'

485722

Institutional Source

Beutler Lab

Gene Symbol

Csrp2

Ensembl Gene

ENSMUSG00000020186

Gene Name

cysteine and glycine-rich protein 2

Synonyms

SmLim, Crp2

MMRRC Submission

044268-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6120 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

110756037-110775375 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 110775140 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Serine at position 192 (A192S)

Ref Sequence

ENSEMBL: ENSMUSP00000020403 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000020403] [ENSMUST00000041723] [ENSMUST00000219188] [ENSMUST00000219502] [ENSMUST00000220054] [ENSMUST00000220409]

AlphaFold

P97314

Predicted Effect

probably benign
Transcript: ENSMUST00000020403
AA Change: A192S

PolyPhen 2 Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)

SMART Domains

Protein: ENSMUSP00000020403
Gene: ENSMUSG00000020186
AA Change: A192S

Domain	Start	End	E-Value	Type
LIM	9	61	3.56e-11	SMART
LIM	118	170	7.39e-18	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000041723

SMART Domains

Protein: ENSMUSP00000043279
Gene: ENSMUSG00000035798

Domain	Start	End	E-Value	Type
Blast:ANK	57	85	2e-8	BLAST
ANK	89	118	6.71e-2	SMART
ANK	123	152	1.99e-4	SMART
ANK	156	185	1.61e-4	SMART
ANK	189	219	1.9e-1	SMART
ANK	224	253	1.53e-5	SMART
Blast:ANK	257	286	2e-11	BLAST
transmembrane domain	305	323	N/A	INTRINSIC
transmembrane domain	328	350	N/A	INTRINSIC
transmembrane domain	357	379	N/A	INTRINSIC
transmembrane domain	384	403	N/A	INTRINSIC
Pfam:zf-DHHC	434	570	1e-36	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000217698

Predicted Effect

probably benign
Transcript: ENSMUST00000219188

Predicted Effect

probably benign
Transcript: ENSMUST00000219502

Predicted Effect

probably benign
Transcript: ENSMUST00000220054

Predicted Effect

probably benign
Transcript: ENSMUST00000220247

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000220301

Predicted Effect

probably benign
Transcript: ENSMUST00000220409

Meta Mutation Damage Score

0.0589

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.3%
20x: 95.6%

Validation Efficiency

98% (55/56)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] CSRP2 is a member of the CSRP family of genes, encoding a group of LIM domain proteins, which may be involved in regulatory processes important for development and cellular differentiation. CRP2 contains two copies of the cysteine-rich amino acid sequence motif (LIM) with putative zinc-binding activity, and may be involved in regulating ordered cell growth. Other genes in the family include CSRP1 and CSRP3. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2014]
PHENOTYPE: Mice homozygous for one null allele display increased neointima formation following arterial injury and increased migration of vascular smooth muscle cells in response to PDGF-BB. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4921524L21Rik	T	A	18: 6,638,795 (GRCm39)	V398E	possibly damaging	Het
Ankef1	A	G	2: 136,392,296 (GRCm39)	N495S	probably benign	Het
Bpifb3	G	T	2: 153,773,363 (GRCm39)	V428L	probably benign	Het
Btd	G	A	14: 31,363,065 (GRCm39)		probably benign	Het
Ccdc178	A	G	18: 22,230,785 (GRCm39)	L362S	probably benign	Het
Ccdc33	G	A	9: 57,993,883 (GRCm39)	P88S	probably damaging	Het
Cdk14	A	T	5: 4,944,029 (GRCm39)	D385E	probably damaging	Het
Chrna4	A	G	2: 180,666,599 (GRCm39)	L613P	probably damaging	Het
Cnot3	T	A	7: 3,648,335 (GRCm39)		probably null	Het
Csf1	T	A	3: 107,661,170 (GRCm39)	I116L	probably damaging	Het
Dnah9	T	C	11: 66,038,225 (GRCm39)	T104A	probably benign	Het
Eml1	C	T	12: 108,493,983 (GRCm39)	P593S	probably damaging	Het
Entpd2	T	A	2: 25,289,478 (GRCm39)	I320N	probably benign	Het
Exosc9	A	T	3: 36,608,821 (GRCm39)	N140I	probably damaging	Het
Fam186a	T	C	15: 99,838,244 (GRCm39)	T2667A	probably benign	Het
Fes	T	C	7: 80,030,615 (GRCm39)	D558G	probably damaging	Het
Fgfr2	G	T	7: 129,830,420 (GRCm39)	T186K	probably benign	Het
Fnip1	A	G	11: 54,400,826 (GRCm39)	E1075G	probably benign	Het
Gbf1	A	G	19: 46,267,760 (GRCm39)	I1203V	possibly damaging	Het
Gja1	T	A	10: 56,264,601 (GRCm39)	M320K	probably benign	Het
Gm5431	A	G	11: 48,785,608 (GRCm39)	Y256H	probably benign	Het
Gpr20	C	T	15: 73,567,853 (GRCm39)	V179M	probably damaging	Het
Greb1	T	G	12: 16,758,622 (GRCm39)	D698A	probably damaging	Het
Hook2	A	G	8: 85,724,754 (GRCm39)	E500G	probably damaging	Het
Kif13b	A	T	14: 64,989,007 (GRCm39)	N796I	probably damaging	Het
Kif1a	C	T	1: 92,952,296 (GRCm39)		probably null	Het
Lama1	T	C	17: 68,087,612 (GRCm39)		probably null	Het
Mfsd1	C	T	3: 67,501,718 (GRCm39)	Q246*	probably null	Het
Mkrn3	A	G	7: 62,069,282 (GRCm39)	S170P	probably benign	Het
Ms4a6b	A	G	19: 11,499,059 (GRCm39)	M58V	probably benign	Het
Muc4	T	C	16: 32,577,169 (GRCm39)	V2223A	unknown	Het
Mycbp2	A	T	14: 103,513,323 (GRCm39)	V811D	probably benign	Het
Or5p59	A	T	7: 107,703,340 (GRCm39)	N275Y	probably damaging	Het
Or6c215	G	A	10: 129,637,689 (GRCm39)	A235V	probably damaging	Het
Or6c215	C	A	10: 129,637,690 (GRCm39)	A235S	probably damaging	Het
Or9g4b	T	C	2: 85,616,685 (GRCm39)	F277L	probably damaging	Het
Pcsk2	A	G	2: 143,643,031 (GRCm39)	E436G	probably damaging	Het
Pet100	T	G	8: 3,671,764 (GRCm39)		probably null	Het
Pira2	A	G	7: 3,844,553 (GRCm39)	Y493H	probably damaging	Het
Prkdc	C	A	16: 15,557,335 (GRCm39)	R2213S	probably benign	Het
Prmt2	A	G	10: 76,045,280 (GRCm39)	I342T	possibly damaging	Het
Psmc6	A	G	14: 45,586,130 (GRCm39)	E381G	possibly damaging	Het
Rrm1	G	A	7: 102,110,063 (GRCm39)		probably null	Het
Sema3c	A	G	5: 17,932,630 (GRCm39)	D711G	probably benign	Het
Sgcb	T	C	5: 73,798,153 (GRCm39)	E103G	possibly damaging	Het
Sh3pxd2a	A	G	19: 47,255,848 (GRCm39)	S957P	probably damaging	Het
Slc26a2	A	G	18: 61,332,489 (GRCm39)	V314A	possibly damaging	Het
Smarca5	G	T	8: 81,438,372 (GRCm39)	H655N	probably damaging	Het
Sspo	T	A	6: 48,442,510 (GRCm39)	S2002T	probably damaging	Het
Sync	T	C	4: 129,187,544 (GRCm39)	L192P	probably damaging	Het
Ush2a	T	C	1: 188,090,800 (GRCm39)	M477T	probably benign	Het
Vav3	C	T	3: 109,571,681 (GRCm39)	T201M	probably damaging	Het
Vcam1	A	G	3: 115,918,049 (GRCm39)	V304A	probably damaging	Het
Vmn2r115	T	A	17: 23,565,003 (GRCm39)	W297R	probably damaging	Het
Vmn2r120	T	A	17: 57,832,973 (GRCm39)	M69L	probably benign	Het
Wdr11	A	G	7: 129,226,515 (GRCm39)	D771G	probably damaging	Het

Other mutations in Csrp2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R0031:Csrp2	UTSW	10	110,774,601 (GRCm39)	missense	probably benign
R1531:Csrp2	UTSW	10	110,771,066 (GRCm39)	missense	probably benign	0.16
R1964:Csrp2	UTSW	10	110,767,894 (GRCm39)	missense	probably benign	0.19
R3703:Csrp2	UTSW	10	110,773,735 (GRCm39)	splice site	probably benign
R6290:Csrp2	UTSW	10	110,767,844 (GRCm39)	missense	probably damaging	1.00
R7660:Csrp2	UTSW	10	110,773,624 (GRCm39)	missense	probably benign
R7829:Csrp2	UTSW	10	110,771,045 (GRCm39)	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- GGAATTCCTGGACTCGCTTC -3'
(R):5'- AAGAATGCTCTTAGACGCTAGTG -3'

Sequencing Primer
(F):5'- CTGGACTCGCTTCAAACAAGGATG -3'
(R):5'- AATGCTCTTAGACGCTAGTGAGTGG -3'

Posted On

2017-08-16