Mutagenetix > Incidental Mutation

Incidental Mutation 'R5295:Psrc1'

405346

Institutional Source

Beutler Lab

Gene Symbol

Psrc1

Ensembl Gene

ENSMUSG00000068744

Gene Name

proline/serine-rich coiled-coil 1

Synonyms

DDA3, 5430413I02Rik

MMRRC Submission

042878-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.550) question?

Stock #

R5295 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

108383839-108388231 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 108386359 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 195 (I195V)

Ref Sequence

ENSEMBL: ENSMUSP00000099689 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000090558] [ENSMUST00000090561] [ENSMUST00000102629] [ENSMUST00000128089]

AlphaFold

Q9D0P7

Predicted Effect

probably benign
Transcript: ENSMUST00000090558

SMART Domains

Protein: ENSMUSP00000088046
Gene: ENSMUSG00000068740

Domain	Start	End	E-Value	Type
signal peptide	1	31	N/A	INTRINSIC
low complexity region	35	53	N/A	INTRINSIC
CA	203	287	1.36e-26	SMART
CA	311	397	1.33e-29	SMART
CA	421	503	2.59e-27	SMART
CA	527	608	3.33e-30	SMART
CA	632	710	5.18e-18	SMART
CA	734	813	1.08e-29	SMART
CA	837	919	8.08e-29	SMART
low complexity region	920	932	N/A	INTRINSIC
CA	943	1021	4.3e-24	SMART
CA	1049	1125	1.87e-1	SMART
low complexity region	1188	1198	N/A	INTRINSIC
EGF	1231	1286	1.81e-3	SMART
EGF_CA	1288	1324	2.24e-8	SMART
EGF	1331	1366	6.65e-2	SMART
LamG	1387	1554	8.4e-30	SMART
EGF	1577	1610	8e-5	SMART
LamG	1636	1770	1.56e-24	SMART
EGF	1796	1829	2.35e-2	SMART
EGF	1831	1867	3.88e-3	SMART
TNFR	1908	1943	1.35e-1	SMART
EGF_Lam	1924	1969	9.54e-12	SMART
HormR	1972	2034	1.57e-20	SMART
Pfam:GAIN	2046	2289	3e-62	PFAM
GPS	2315	2368	1.86e-25	SMART
Pfam:7tm_2	2373	2605	1.1e-48	PFAM
low complexity region	2715	2733	N/A	INTRINSIC
low complexity region	2857	2873	N/A	INTRINSIC
low complexity region	2874	2881	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000090561
AA Change: I195V

PolyPhen 2 Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)

SMART Domains

Protein: ENSMUSP00000088049
Gene: ENSMUSG00000068744
AA Change: I195V

Domain	Start	End	E-Value	Type
Pfam:GTSE1_N	7	124	4.8e-24	PFAM
low complexity region	131	143	N/A	INTRINSIC
low complexity region	222	231	N/A	INTRINSIC
low complexity region	300	316	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000102629
AA Change: I195V

PolyPhen 2 Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)

SMART Domains

Protein: ENSMUSP00000099689
Gene: ENSMUSG00000068744
AA Change: I195V

Domain	Start	End	E-Value	Type
Pfam:GTSE1_N	8	108	2e-12	PFAM
low complexity region	131	143	N/A	INTRINSIC
low complexity region	222	231	N/A	INTRINSIC
low complexity region	300	316	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000126461

Predicted Effect

probably benign
Transcript: ENSMUST00000128089

SMART Domains

Protein: ENSMUSP00000115634
Gene: ENSMUSG00000068744

Domain	Start	End	E-Value	Type
Pfam:GTSE1_N	22	139	6.5e-25	PFAM
low complexity region	146	158	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000128962

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000130906

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000133405

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000142833

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000143309

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000145141

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000148509

SMART Domains

Protein: ENSMUSP00000120482
Gene: ENSMUSG00000068744

Domain	Start	End	E-Value	Type
Pfam:GTSE1_N	5	106	3.9e-18	PFAM
low complexity region	113	125	N/A	INTRINSIC
low complexity region	204	213	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000196430

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.4%
20x: 95.7%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a proline-rich protein that is a target for regulation by the tumor suppressor protein p53. The encoded protein plays an important role in mitosis by recruiting and regulating microtubule depolymerases that destabalize microtubules. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq, Apr 2014]

Allele List at MGI

Other mutations in this stock

Total: 39 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Alpk2	C	T	18: 65,305,038	E1095K	probably damaging	Het
Alpl	T	C	4: 137,749,608	T245A	probably benign	Het
Ank2	T	C	3: 127,032,183	H378R	probably damaging	Het
Arhgef1	G	A	7: 24,919,352		probably null	Het
Atp5c1	T	C	2: 10,068,733	R10G	possibly damaging	Het
Cbln3	T	C	14: 55,883,463		probably null	Het
Ccr10	C	T	11: 101,174,285	V140M	possibly damaging	Het
Cep135	T	A	5: 76,593,204	H42Q	possibly damaging	Het
Commd5	C	A	15: 76,900,952	T183K	possibly damaging	Het
Dnajc16	T	C	4: 141,767,928	E493G	possibly damaging	Het
Ears2	T	C	7: 122,048,198	R288G	probably damaging	Het
Elovl4	G	A	9: 83,780,661	P273L	possibly damaging	Het
Fam186b	T	A	15: 99,283,874	I148F	probably damaging	Het
Fryl	T	C	5: 73,112,791	Y79C	probably damaging	Het
Gad1-ps	A	G	10: 99,444,889		noncoding transcript	Het
Gm14325	G	A	2: 177,832,984	H102Y	possibly damaging	Het
Gm8882	T	G	6: 132,361,877	Q126P	unknown	Het
Ighv1-77	T	A	12: 115,861,908	S104C	probably damaging	Het
Kcnv1	T	C	15: 45,114,591	D17G	unknown	Het
Lmtk3	G	A	7: 45,791,298	D243N	probably damaging	Het
Lrrc7	T	A	3: 158,170,739	K571N	probably damaging	Het
Lsm7	T	C	10: 80,854,620	E32G	probably damaging	Het
Ly6f	A	G	15: 75,271,639	Q65R	probably benign	Het
Perm1	T	C	4: 156,217,518	L173P	probably benign	Het
Plvap	T	C	8: 71,511,670	Q16R	probably benign	Het
Prl7d1	A	T	13: 27,709,247	V227D	probably damaging	Het
Prss54	T	C	8: 95,564,478	T165A	probably damaging	Het
Rnf123	AT	ATT	9: 108,064,003		probably null	Het
Rnf213	A	T	11: 119,440,816	T2284S	probably benign	Het
Serpina3c	T	C	12: 104,148,378	E333G	probably damaging	Het
Serpinb6c	A	G	13: 33,893,817	F190S	probably damaging	Het
Sfmbt1	G	A	14: 30,774,029	D90N	probably damaging	Het
Tdh	T	C	14: 63,496,109	Y110C	probably damaging	Het
Tdrd9	T	A	12: 112,051,912	L1255*	probably null	Het
Trim41	TTCCTCCTCCTCCTCCTCCTCCTCCTCC	TTCCTCCTCCTCCTCCTCCTCCTCC	11: 48,816,257		probably benign	Het
Vps51	T	G	19: 6,071,033	E283D	probably benign	Het
Zbtb2	T	C	10: 4,368,508	K506R	probably damaging	Het
Zmiz1	T	C	14: 25,656,347	L800P	probably damaging	Het
Znhit6	A	G	3: 145,600,493	D251G	probably benign	Het

Other mutations in Psrc1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01616:Psrc1	APN	3	108386692	missense	possibly damaging	0.93
R1481:Psrc1	UTSW	3	108384993	missense	probably benign	0.09
R1637:Psrc1	UTSW	3	108385293	missense	probably damaging	1.00
R1645:Psrc1	UTSW	3	108385238	missense	probably damaging	1.00
R5000:Psrc1	UTSW	3	108380523	unclassified	probably benign
R5275:Psrc1	UTSW	3	108386359	missense	probably benign	0.01
R6810:Psrc1	UTSW	3	108385348	missense	possibly damaging	0.87
R7545:Psrc1	UTSW	3	108386443	splice site	probably null
R7909:Psrc1	UTSW	3	108385251	missense	probably damaging	1.00
R8237:Psrc1	UTSW	3	108386614	missense	probably damaging	1.00
R8312:Psrc1	UTSW	3	108386357	missense	probably benign	0.01
R8927:Psrc1	UTSW	3	108386657	missense	probably damaging	0.97
R8928:Psrc1	UTSW	3	108386657	missense	probably damaging	0.97
Z1192:Psrc1	UTSW	3	108386557	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- GTTCTAGACAACGCCCTACC -3'
(R):5'- TGGAAGACTTGACAGCTGCTC -3'

Sequencing Primer
(F):5'- TTCTAGACAACGCCCTACCTACTATC -3'
(R):5'- ATGAACATTGGGAGTTGCTAGC -3'

Posted On

2016-07-22