Mutagenetix > Incidental Mutation

Incidental Mutation 'R8928:Psrc1'

679658

Institutional Source

Beutler Lab

Gene Symbol

Psrc1

Ensembl Gene

ENSMUSG00000068744

Gene Name

proline/serine-rich coiled-coil 1

Synonyms

5430413I02Rik, DDA3

MMRRC Submission

068772-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.485) question?

Stock #

R8928 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

108291155-108295547 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 108293973 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Arginine at position 263 (S263R)

Ref Sequence

ENSEMBL: ENSMUSP00000088049 (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 damaging
Transcript: ENSMUST00000090561
AA Change: S263R

PolyPhen 2 Score 0.974 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000088049
Gene: ENSMUSG00000068744
AA Change: S263R

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 damaging
Transcript: ENSMUST00000102629
AA Change: S263R

PolyPhen 2 Score 0.974 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000099689
Gene: ENSMUSG00000068744
AA Change: S263R

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

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.1%

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: 81 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A630089N07Rik	A	T	16: 97,867,367 (GRCm39)	H198Q	probably damaging	Het
Abcb9	T	C	5: 124,221,706 (GRCm39)	T223A	probably benign	Het
Actc1	T	A	2: 113,880,881 (GRCm39)	K115*	probably null	Het
Angptl2	G	A	2: 33,132,316 (GRCm39)	D308N	probably benign	Het
Arl4d	A	C	11: 101,557,892 (GRCm39)	Q139H	possibly damaging	Het
Aspm	T	A	1: 139,418,125 (GRCm39)	C2951*	probably null	Het
Atp23	A	T	10: 126,723,362 (GRCm39)	*247R	probably null	Het
B3gnt7	T	A	1: 86,232,839 (GRCm39)	S28R	probably benign	Het
Blm	GCCTCCTCCTCCTCCTCCTCCTCCTCCTCC	GCCTCCTCCTCCTCCTCCTCCTCCTCC	7: 80,162,652 (GRCm39)		probably benign	Het
Bmp7	C	T	2: 172,721,211 (GRCm39)	R288H	probably damaging	Het
Bsdc1	G	T	4: 129,355,439 (GRCm39)		probably benign	Het
Ccdc146	T	C	5: 21,538,060 (GRCm39)	E88G	probably damaging	Het
Ccdc73	C	A	2: 104,822,542 (GRCm39)	D2E		Het
Cdc5l	C	A	17: 45,721,839 (GRCm39)	R477L		Het
Cdh22	T	A	2: 164,965,504 (GRCm39)	H529L	possibly damaging	Het
Chchd3	T	A	6: 32,780,951 (GRCm39)	E178D	probably benign	Het
Ciz1	A	T	2: 32,257,512 (GRCm39)	R186*	probably null	Het
Copa	T	A	1: 171,931,737 (GRCm39)	H329Q	probably null	Het
Dcaf7	A	G	11: 105,942,752 (GRCm39)	D233G	probably damaging	Het
Dclk2	G	T	3: 86,739,048 (GRCm39)	P317Q	probably damaging	Het
Dsc3	A	T	18: 20,107,234 (GRCm39)	H462Q	probably benign	Het
Fn1	T	C	1: 71,638,535 (GRCm39)	N1998S	probably benign	Het
Fpr2	T	C	17: 18,113,724 (GRCm39)	L240S	possibly damaging	Het
Fzd9	A	T	5: 135,278,589 (GRCm39)	M432K	probably damaging	Het
Gm5862	T	A	5: 26,226,678 (GRCm39)	I75F	probably damaging	Het
Gpr45	T	A	1: 43,072,314 (GRCm39)	V319D	probably damaging	Het
H4c11	T	C	13: 21,919,525 (GRCm39)	V87A	possibly damaging	Het
Igfn1	T	A	1: 135,905,984 (GRCm39)	R275W	probably damaging	Het
Inafm1	G	A	7: 16,006,980 (GRCm39)	A79V	unknown	Het
Itfg1	C	T	8: 86,567,420 (GRCm39)		probably benign	Het
Klhl35	T	G	7: 99,120,221 (GRCm39)	I366S	probably damaging	Het
Lysmd1	A	T	3: 95,045,831 (GRCm39)	I223F	probably damaging	Het
Mrps30	A	G	13: 118,523,205 (GRCm39)	L189P	probably damaging	Het
Ms4a4d	A	C	19: 11,533,574 (GRCm39)	T152P	probably benign	Het
Mtcl1	A	T	17: 66,755,628 (GRCm39)	I238K	probably benign	Het
Musk	T	C	4: 58,301,638 (GRCm39)	I132T	probably damaging	Het
Myh2	A	T	11: 67,079,509 (GRCm39)	M989L	probably benign	Het
Myh8	G	A	11: 67,174,081 (GRCm39)	R172H	probably benign	Het
Nt5c1a	C	T	4: 123,102,281 (GRCm39)	T69M	possibly damaging	Het
Nuak2	T	A	1: 132,255,916 (GRCm39)	D196E	probably damaging	Het
Or52h7	A	T	7: 104,214,229 (GRCm39)	H267L	probably damaging	Het
Or5ap2	A	T	2: 85,679,918 (GRCm39)	I41F	possibly damaging	Het
Or5t7	T	C	2: 86,507,630 (GRCm39)	T16A	probably benign	Het
Or8k53	T	C	2: 86,178,090 (GRCm39)	T7A	possibly damaging	Het
Palb2	A	T	7: 121,723,821 (GRCm39)	C643S	probably damaging	Het
Pde5a	T	A	3: 122,633,249 (GRCm39)	I706N	probably damaging	Het
Pdlim4	T	C	11: 53,950,790 (GRCm39)	R100G	probably benign	Het
Pip5k1c	T	A	10: 81,128,906 (GRCm39)	V5E	possibly damaging	Het
Pira1	A	C	7: 3,742,358 (GRCm39)	N56K	probably benign	Het
Plekhm1	A	G	11: 103,268,039 (GRCm39)	V644A	probably benign	Het
Plk2	T	G	13: 110,535,750 (GRCm39)	V524G	probably damaging	Het
Ppl	T	A	16: 4,905,474 (GRCm39)	N1607I	probably benign	Het
Prag1	T	G	8: 36,614,360 (GRCm39)	V1304G	probably damaging	Het
Prex1	C	T	2: 166,426,995 (GRCm39)	V1077M	probably damaging	Het
Prmt6	T	C	3: 110,158,248 (GRCm39)	S14G	probably benign	Het
Qrfprl	C	A	6: 65,358,597 (GRCm39)	S107*	probably null	Het
Rbp7	A	T	4: 149,537,958 (GRCm39)	L36*	probably null	Het
Rgs12	G	T	5: 35,123,633 (GRCm39)	W472L	possibly damaging	Het
Rrp8	C	A	7: 105,384,073 (GRCm39)	C143F	possibly damaging	Het
Sart1	T	C	19: 5,438,529 (GRCm39)	S43G	probably benign	Het
Setx	A	G	2: 29,016,971 (GRCm39)	T25A	possibly damaging	Het
Skint5	G	A	4: 113,341,099 (GRCm39)	T1414I	probably benign	Het
Sorbs2	T	A	8: 46,248,952 (GRCm39)	S734R	probably damaging	Het
Spata31g1	A	T	4: 42,972,251 (GRCm39)	Y528F	probably benign	Het
Spon1	T	C	7: 113,629,592 (GRCm39)		probably null	Het
Sptbn1	C	T	11: 30,088,962 (GRCm39)	V767I	probably damaging	Het
Srf	T	C	17: 46,860,095 (GRCm39)	I477V	probably damaging	Het
Tanc2	A	G	11: 105,701,331 (GRCm39)	Y282C	probably damaging	Het
Tbc1d23	A	G	16: 56,992,152 (GRCm39)	Y603H	probably damaging	Het
Tdpoz6	T	A	3: 93,599,950 (GRCm39)	T140S	probably benign	Het
Tfap4	T	C	16: 4,369,218 (GRCm39)	D134G	probably damaging	Het
Tmem200c	A	G	17: 69,148,733 (GRCm39)	T439A	probably benign	Het
Tmem63b	A	T	17: 45,975,908 (GRCm39)	M515K	probably damaging	Het
Tnc	A	T	4: 63,925,595 (GRCm39)	N980K	probably damaging	Het
Ttc23l	T	A	15: 10,530,720 (GRCm39)	L297F	probably damaging	Het
Vinac1	A	G	2: 128,882,789 (GRCm39)	S76P		Het
Vmn1r170	A	G	7: 23,305,814 (GRCm39)	N72S	possibly damaging	Het
Vmn2r8	T	C	5: 108,950,131 (GRCm39)	M239V		Het
Vopp1	A	G	6: 57,731,578 (GRCm39)	F138L	probably damaging	Het
Vps41	T	A	13: 18,929,501 (GRCm39)	F79I	probably benign	Het
Zfp317	T	C	9: 19,552,521 (GRCm39)	M1T	probably null	Het

Other mutations in Psrc1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01616:Psrc1	APN	3	108,294,008 (GRCm39)	missense	possibly damaging	0.93
R1481:Psrc1	UTSW	3	108,292,309 (GRCm39)	missense	probably benign	0.09
R1637:Psrc1	UTSW	3	108,292,609 (GRCm39)	missense	probably damaging	1.00
R1645:Psrc1	UTSW	3	108,292,554 (GRCm39)	missense	probably damaging	1.00
R5000:Psrc1	UTSW	3	108,287,839 (GRCm39)	unclassified	probably benign
R5275:Psrc1	UTSW	3	108,293,675 (GRCm39)	missense	probably benign	0.01
R5295:Psrc1	UTSW	3	108,293,675 (GRCm39)	missense	probably benign	0.01
R6810:Psrc1	UTSW	3	108,292,664 (GRCm39)	missense	possibly damaging	0.87
R7545:Psrc1	UTSW	3	108,293,759 (GRCm39)	splice site	probably null
R7909:Psrc1	UTSW	3	108,292,567 (GRCm39)	missense	probably damaging	1.00
R8237:Psrc1	UTSW	3	108,293,930 (GRCm39)	missense	probably damaging	1.00
R8312:Psrc1	UTSW	3	108,293,673 (GRCm39)	missense	probably benign	0.01
R8927:Psrc1	UTSW	3	108,293,973 (GRCm39)	missense	probably damaging	0.97
Z1192:Psrc1	UTSW	3	108,293,873 (GRCm39)	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- AACCAATTCTTCCACCTCGG -3'
(R):5'- AGATCAAGCCGTGTCACTGC -3'

Sequencing Primer
(F):5'- AAAACTGGGTTCGGTGCC -3'
(R):5'- TGGAACTCACTCTGTAGACCAGG -3'

Posted On

2021-08-02