Mutagenetix > Incidental Mutation

Incidental Mutation 'R1481:Psrc1'

164355

Institutional Source

Beutler Lab

Gene Symbol

Psrc1

Ensembl Gene

ENSMUSG00000068744

Gene Name

proline/serine-rich coiled-coil 1

Synonyms

5430413I02Rik, DDA3

MMRRC Submission

039534-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.517) question?

Stock #

R1481 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

108291155-108295547 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 108292309 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 34 (V34A)

Ref Sequence

ENSEMBL: ENSMUSP00000115634 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000090561] [ENSMUST00000090563] [ENSMUST00000102629] [ENSMUST00000128089]

AlphaFold

Q9D0P7

Predicted Effect

probably benign
Transcript: ENSMUST00000090561
AA Change: V34A

PolyPhen 2 Score 0.044 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000088049
Gene: ENSMUSG00000068744
AA Change: V34A

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: ENSMUST00000090563

SMART Domains

Protein: ENSMUSP00000088051
Gene: ENSMUSG00000068745

Domain	Start	End	E-Value	Type
IG	61	144	4.67e-4	SMART
FN3	147	229	1.62e-10	SMART
IG	268	352	3.68e-2	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000102629
AA Change: V34A

PolyPhen 2 Score 0.044 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000099689
Gene: ENSMUSG00000068744
AA Change: V34A

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
AA Change: V34A

PolyPhen 2 Score 0.090 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000115634
Gene: ENSMUSG00000068744
AA Change: V34A

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: ENSMUST00000142833

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000133405

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000143309

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000145141

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000196430

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

Meta Mutation Damage Score

0.0691

Coding Region Coverage

1x: 99.1%
3x: 98.3%
10x: 96.3%
20x: 92.6%

Validation Efficiency

100% (71/71)

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: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Arhgef5	A	G	6: 43,251,568 (GRCm39)	H773R	probably damaging	Het
Bltp1	T	C	3: 37,062,583 (GRCm39)	V3365A	probably damaging	Het
Bmp3	G	A	5: 99,020,329 (GRCm39)	V251M	probably damaging	Het
Ccdc175	C	A	12: 72,148,722 (GRCm39)		probably benign	Het
Ccdc178	C	T	18: 22,238,678 (GRCm39)	G313D	probably benign	Het
Cd300ld2	T	A	11: 114,903,459 (GRCm39)	I129F	probably benign	Het
Cep170	T	C	1: 176,609,951 (GRCm39)	Q120R	possibly damaging	Het
Ckb	T	C	12: 111,637,696 (GRCm39)	H145R	probably benign	Het
Cntnap5a	T	A	1: 116,045,393 (GRCm39)	N336K	probably damaging	Het
Coil	T	A	11: 88,864,886 (GRCm39)	C38S	possibly damaging	Het
Cps1	T	C	1: 67,183,041 (GRCm39)	V133A	probably damaging	Het
Cspg4	A	G	9: 56,795,094 (GRCm39)	E943G	probably damaging	Het
Cyp2c54	C	T	19: 40,036,032 (GRCm39)	D293N	probably benign	Het
Cyp2f2	T	C	7: 26,821,302 (GRCm39)	S72P	probably benign	Het
Dip2c	G	A	13: 9,601,902 (GRCm39)		probably null	Het
Dock6	T	C	9: 21,731,918 (GRCm39)	T1158A	probably benign	Het
Dscaml1	G	A	9: 45,583,941 (GRCm39)	V469I	probably benign	Het
Efcab14	A	G	4: 115,613,714 (GRCm39)	T221A	probably benign	Het
Ehbp1	T	C	11: 21,956,782 (GRCm39)	*1207W	probably null	Het
Eln	T	C	5: 134,735,426 (GRCm39)	K786E	probably damaging	Het
Fyb1	C	T	15: 6,649,128 (GRCm39)	P385S	probably benign	Het
Galr1	A	G	18: 82,423,866 (GRCm39)	I137T	possibly damaging	Het
Gcm1	A	T	9: 77,966,999 (GRCm39)	K73*	probably null	Het
Gemin5	T	C	11: 58,032,480 (GRCm39)	N775D	probably damaging	Het
Gli3	C	T	13: 15,788,435 (GRCm39)	H147Y	probably damaging	Het
Gm10754	G	T	10: 97,518,089 (GRCm39)		probably benign	Het
Gpr37	T	C	6: 25,669,137 (GRCm39)	D569G	probably damaging	Het
Grina	T	A	15: 76,133,289 (GRCm39)	Y286N	probably damaging	Het
Gtf3c1	C	A	7: 125,292,310 (GRCm39)		probably null	Het
Kcnc4	C	T	3: 107,355,534 (GRCm39)	V305M	probably benign	Het
Kntc1	T	C	5: 123,916,338 (GRCm39)	F724L	probably benign	Het
Kpnb1	T	C	11: 97,069,136 (GRCm39)	Y249C	probably damaging	Het
Krt6b	T	C	15: 101,586,809 (GRCm39)	T269A	probably benign	Het
Lamc1	T	C	1: 153,097,380 (GRCm39)	K1555E	probably damaging	Het
Maneal	T	C	4: 124,755,650 (GRCm39)	Y104C	probably damaging	Het
Map1b	T	C	13: 99,567,679 (GRCm39)	T1681A	unknown	Het
Mettl17	T	C	14: 52,128,160 (GRCm39)	L272P	probably benign	Het
Mib2	T	A	4: 155,741,456 (GRCm39)	S357C	probably benign	Het
Mmp19	C	A	10: 128,634,047 (GRCm39)	T316K	possibly damaging	Het
Mroh9	C	T	1: 162,854,078 (GRCm39)	G774E	probably damaging	Het
Myh1	T	C	11: 67,096,325 (GRCm39)		probably benign	Het
Ncor2	C	A	5: 125,104,202 (GRCm39)	E963*	probably null	Het
Nol6	T	A	4: 41,123,596 (GRCm39)	T51S	probably benign	Het
Nsun3	A	T	16: 62,555,732 (GRCm39)	C265S	probably damaging	Het
Nup214	C	T	2: 31,924,478 (GRCm39)	S1669F	probably damaging	Het
Nutm2	T	A	13: 50,623,517 (GRCm39)	N71K	probably damaging	Het
Or10a5	T	G	7: 106,635,356 (GRCm39)	L5R	probably benign	Het
Or5p73	C	T	7: 108,065,167 (GRCm39)	T212I	probably benign	Het
Orc3	T	A	4: 34,607,228 (GRCm39)	E34V	possibly damaging	Het
Pcdhb13	T	A	18: 37,575,889 (GRCm39)	L89Q	probably damaging	Het
Polr3a	A	T	14: 24,502,616 (GRCm39)	V1241E	probably null	Het
Prpf39	C	T	12: 65,100,088 (GRCm39)	P135S	probably damaging	Het
Rab27a	G	A	9: 72,989,684 (GRCm39)	V52M	probably benign	Het
Rassf9	A	G	10: 102,381,895 (GRCm39)	T424A	probably benign	Het
Ripor3	G	T	2: 167,842,297 (GRCm39)	R61S	possibly damaging	Het
Ryr3	C	T	2: 112,466,867 (GRCm39)		probably benign	Het
Samd4b	C	T	7: 28,113,435 (GRCm39)	G177R	probably damaging	Het
Setbp1	C	T	18: 78,826,516 (GRCm39)	V1366M	probably benign	Het
Smad1	G	A	8: 80,070,359 (GRCm39)	A393V	probably benign	Het
Tctn2	T	C	5: 124,745,826 (GRCm39)		noncoding transcript	Het
Tmem45a	A	T	16: 56,631,965 (GRCm39)	F218I	possibly damaging	Het
Tpte	A	T	8: 22,845,487 (GRCm39)	R512S	probably damaging	Het
Trim37	T	A	11: 87,020,585 (GRCm39)	L22*	probably null	Het
Ttc6	A	G	12: 57,783,916 (GRCm39)	N1792D	probably damaging	Het
Ttn	A	G	2: 76,775,960 (GRCm39)	M1694T	probably damaging	Het
Vmn1r181	T	A	7: 23,684,137 (GRCm39)	W201R	probably damaging	Het
Wdr74	C	T	19: 8,715,592 (GRCm39)	L198F	possibly damaging	Het
Zfp560	T	C	9: 20,260,086 (GRCm39)	T259A	probably benign	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
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
R8928: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'- AGAATTGGGCCTCTAGAACACATGC -3'
(R):5'- GGCGGTTGGCTTCATCAAGAATCTC -3'

Sequencing Primer
(F):5'- agagagggggagggagag -3'
(R):5'- GGCTTCATCAAGAATCTCTTCCAG -3'

Posted On

2014-03-28