Mutagenetix > Incidental Mutation

Incidental Mutation 'R1645:Psrc1'

173796

Institutional Source

Beutler Lab

Gene Symbol

Psrc1

Ensembl Gene

ENSMUSG00000068744

Gene Name

proline/serine-rich coiled-coil 1

Synonyms

5430413I02Rik, DDA3

MMRRC Submission

039681-MU

Accession Numbers

Essential gene?

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

Stock #

R1645 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

108291155-108295547 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 108292554 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Tryptophan at position 116 (R116W)

Ref Sequence

ENSEMBL: ENSMUSP00000115634 (fasta)

Gene Model

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

AlphaFold

Q9D0P7

Predicted Effect

probably damaging
Transcript: ENSMUST00000090561
AA Change: R116W

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000088049
Gene: ENSMUSG00000068744
AA Change: R116W

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: R116W

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000099689
Gene: ENSMUSG00000068744
AA Change: R116W

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 damaging
Transcript: ENSMUST00000128089
AA Change: R116W

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000115634
Gene: ENSMUSG00000068744
AA Change: R116W

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: ENSMUST00000143309

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000196430

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000145141

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000142833

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

Coding Region Coverage

1x: 99.0%
3x: 98.1%
10x: 95.3%
20x: 89.2%

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: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca4	A	G	3: 121,948,926 (GRCm39)	M1732V	probably benign	Het
Acvr1	A	T	2: 58,352,911 (GRCm39)	C350S	probably damaging	Het
Adgrl2	A	T	3: 148,571,244 (GRCm39)	V130D	probably damaging	Het
Anapc1	A	G	2: 128,500,166 (GRCm39)		probably null	Het
Asap1	A	T	15: 63,961,324 (GRCm39)	V1116E	probably damaging	Het
Bcas1	T	A	2: 170,229,087 (GRCm39)	D308V	probably damaging	Het
Brca1	G	A	11: 101,400,879 (GRCm39)	H1468Y	probably benign	Het
C2cd5	A	G	6: 142,995,852 (GRCm39)	C421R	probably damaging	Het
C4b	A	G	17: 34,959,571 (GRCm39)	S363P	probably damaging	Het
Camk2b	A	T	11: 5,922,719 (GRCm39)	C484S	probably damaging	Het
Cby2	C	A	14: 75,821,089 (GRCm39)	R212L	probably benign	Het
Ccny	T	C	18: 9,345,199 (GRCm39)	T192A	probably damaging	Het
Chl1	G	T	6: 103,660,141 (GRCm39)	A356S	probably benign	Het
Dst	T	A	1: 34,264,803 (GRCm39)	Y4850N	probably damaging	Het
Dyrk4	C	A	6: 126,871,756 (GRCm39)	E171*	probably null	Het
Entrep3	C	A	3: 89,094,154 (GRCm39)	D322E	possibly damaging	Het
Ephb1	A	G	9: 101,804,758 (GRCm39)	Y928H	probably damaging	Het
Fam114a2	A	T	11: 57,390,621 (GRCm39)	N304K	probably benign	Het
Fras1	A	T	5: 96,848,445 (GRCm39)	D1820V	possibly damaging	Het
Gabbr2	A	T	4: 46,664,963 (GRCm39)		probably null	Het
Gm6358	T	C	16: 88,937,967 (GRCm39)	W69R	unknown	Het
Ikbkb	C	A	8: 23,181,082 (GRCm39)	S127I	probably damaging	Het
Impa1	A	T	3: 10,393,501 (GRCm39)	M48K	possibly damaging	Het
Klra2	A	T	6: 131,220,857 (GRCm39)		probably null	Het
Lama1	A	T	17: 68,044,677 (GRCm39)	Y192F	probably benign	Het
Lama2	T	A	10: 27,244,981 (GRCm39)	T267S	probably damaging	Het
Mroh7	G	A	4: 106,577,865 (GRCm39)	T271I	probably benign	Het
Myo9b	A	G	8: 71,775,622 (GRCm39)	E348G	probably damaging	Het
Nrp2	C	T	1: 62,824,283 (GRCm39)	P796L	probably damaging	Het
Ntn4	C	T	10: 93,543,215 (GRCm39)	R314W	probably damaging	Het
Or10al4	A	T	17: 38,037,229 (GRCm39)	T114S	probably benign	Het
Or51i1	A	G	7: 103,671,210 (GRCm39)	F105S	probably damaging	Het
Or9k7	T	A	10: 130,046,081 (GRCm39)	D306V	probably damaging	Het
P3h2	T	A	16: 25,815,982 (GRCm39)	H177L	probably damaging	Het
Pcdhb16	T	C	18: 37,612,423 (GRCm39)	I461T	probably benign	Het
Pdlim3	A	G	8: 46,349,785 (GRCm39)	I32V	probably benign	Het
Pigu	A	C	2: 155,170,598 (GRCm39)	Y143*	probably null	Het
Prkd3	A	C	17: 79,263,949 (GRCm39)		probably null	Het
Rab5b	A	G	10: 128,522,695 (GRCm39)	S29P	possibly damaging	Het
Rbm26	A	G	14: 105,388,253 (GRCm39)	V403A	probably damaging	Het
Rbm47	G	T	5: 66,184,481 (GRCm39)	R41S	probably benign	Het
Rngtt	A	G	4: 33,362,939 (GRCm39)	I364M	probably damaging	Het
Ryr2	A	T	13: 11,733,368 (GRCm39)	C2271*	probably null	Het
Shcbp1	T	A	8: 4,799,645 (GRCm39)	Q277L	probably benign	Het
Sntg1	T	C	1: 8,874,155 (GRCm39)	T5A	probably benign	Het
Snx24	T	C	18: 53,522,634 (GRCm39)	F163S	probably benign	Het
Srp72	T	C	5: 77,146,125 (GRCm39)	V581A	probably benign	Het
Srrt	T	A	5: 137,300,401 (GRCm39)	K59*	probably null	Het
Tnrc6b	A	G	15: 80,767,159 (GRCm39)	T975A	probably damaging	Het
Vmn1r174	G	A	7: 23,453,777 (GRCm39)	V148I	possibly damaging	Het
Vmn2r115	T	A	17: 23,565,192 (GRCm39)	C360S	possibly damaging	Het
Vwa8	A	T	14: 79,420,427 (GRCm39)	Q1709H	probably damaging	Het
Wdr11	A	G	7: 129,215,613 (GRCm39)	T526A	probably benign	Het
Zfp532	C	A	18: 65,820,335 (GRCm39)	N973K	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
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
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'- CCATCGGAGTAACCCAAATGAAGTAGC -3'
(R):5'- GTATGGGAATGACACTACGCCTTCAG -3'

Sequencing Primer
(F):5'- ATGAAGTAGCTCCCGCCC -3'
(R):5'- TGTACGCACGCATGTCC -3'

Posted On

2014-04-24