Mutagenetix > Incidental Mutation

Incidental Mutation 'R4093:Proser1'

317711

Institutional Source

Beutler Lab

Gene Symbol

Proser1

Ensembl Gene

ENSMUSG00000049504

Gene Name

proline and serine rich 1

Synonyms

2810046L04Rik

MMRRC Submission

041627-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4093 (G1)

Quality Score

178

Status

Validated

Chromosome

Chromosomal Location

53463666-53481755 bp(+) (GRCm38)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

T to C at 53479712 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000055253 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000058577]

AlphaFold

Q5PRE5

Predicted Effect

probably null
Transcript: ENSMUST00000058577

SMART Domains

Protein: ENSMUSP00000055253
Gene: ENSMUSG00000049504

Domain	Start	End	E-Value	Type
Pfam:DUF4476	1	63	5e-12	PFAM
Pfam:DUF4476	30	121	4e-27	PFAM
low complexity region	227	246	N/A	INTRINSIC
low complexity region	276	297	N/A	INTRINSIC
low complexity region	302	316	N/A	INTRINSIC
low complexity region	321	331	N/A	INTRINSIC
low complexity region	335	357	N/A	INTRINSIC
low complexity region	399	412	N/A	INTRINSIC
low complexity region	696	718	N/A	INTRINSIC
low complexity region	781	804	N/A	INTRINSIC
low complexity region	806	817	N/A	INTRINSIC
low complexity region	820	834	N/A	INTRINSIC
low complexity region	854	880	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000200328

Meta Mutation Damage Score

0.9589

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.5%

Validation Efficiency

92% (69/75)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a conserved protein containing proline and serine rich regions. These regions may be important in protein-protein interactions. [provided by RefSeq, Aug 2012]

Allele List at MGI

Other mutations in this stock

Total: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Akap9	A	G	5: 4,043,996	M2173V	probably damaging	Het
Alas1	G	T	9: 106,241,801		probably null	Het
Angpt1	T	C	15: 42,523,545	T138A	probably damaging	Het
Atp2c2	G	A	8: 119,749,871		probably null	Het
C330027C09Rik	T	C	16: 49,000,976		probably benign	Het
Cadm2	A	G	16: 66,784,788	V210A	possibly damaging	Het
Cfap70	A	T	14: 20,409,113	D671E	probably damaging	Het
Chd2	C	T	7: 73,501,016	E322K	possibly damaging	Het
Chrnd	C	T	1: 87,191,007	Q29*	probably null	Het
Cym	A	G	3: 107,214,266	S237P	probably benign	Het
D030068K23Rik	A	G	8: 109,251,459		noncoding transcript	Het
Gsdma2	T	A	11: 98,650,851	S135T	probably benign	Het
Hc	A	T	2: 34,983,807	Y158*	probably null	Het
Hoxb3	C	A	11: 96,346,100	H335N	probably damaging	Het
Htr2a	G	A	14: 74,706,349	M456I	probably benign	Het
Ighv1-19	G	A	12: 114,708,730	T90I	probably damaging	Het
Kansl3	C	A	1: 36,344,954	S729I	probably damaging	Het
Kcnab1	T	C	3: 65,299,614	I137T	possibly damaging	Het
Kcnt1	A	T	2: 25,877,915	E12V	probably damaging	Het
Klk15	A	T	7: 43,938,780	S171C	possibly damaging	Het
Lcn2	A	T	2: 32,387,716	M1K	probably null	Het
Lrig1	T	C	6: 94,613,578	D487G	probably benign	Het
Lrp8	T	A	4: 107,843,271	C135*	probably null	Het
Lrrc31	C	A	3: 30,695,522	S54I	probably damaging	Het
Ltbp4	A	G	7: 27,325,216	V663A	possibly damaging	Het
Med27	G	A	2: 29,377,908		probably benign	Het
Mical1	T	C	10: 41,486,937		probably benign	Het
Myt1	A	T	2: 181,811,398	M799L	probably damaging	Het
Nlrc4	T	C	17: 74,445,958	M477V	probably benign	Het
Npy4r	T	C	14: 34,147,141	I63M	probably benign	Het
Olfr224	A	T	11: 58,566,829	I172N	probably damaging	Het
Olfr282	T	C	15: 98,437,682	L71P	probably damaging	Het
Olfr672	C	T	7: 104,996,635	G90S	probably benign	Het
Olfr904	T	A	9: 38,464,083	L14Q	probably null	Het
Piezo1	A	C	8: 122,501,160		probably null	Het
Ppp1r12c	T	C	7: 4,483,367	E601G	probably damaging	Het
Psme2	A	T	14: 55,588,277	N143K	probably benign	Het
Pygo2	C	A	3: 89,433,264	P323Q	probably damaging	Het
Rab11b	T	C	17: 33,749,789	T77A	possibly damaging	Het
Recql5	A	G	11: 115,904,888	S190P	probably benign	Het
Serpina12	A	G	12: 104,037,924	F150L	probably damaging	Het
Sfswap	A	G	5: 129,560,741	S821G	possibly damaging	Het
Slc22a2	C	T	17: 12,612,394	T357M	probably damaging	Het
Spag6l	A	C	16: 16,829,024	N39K	probably benign	Het
Srl	A	G	16: 4,497,452	S109P	possibly damaging	Het
Tagap	A	T	17: 7,929,423	H152L	probably damaging	Het
Tbx3	T	A	5: 119,680,748	S463T	probably benign	Het
Tcaf2	A	G	6: 42,642,838	L85P	probably damaging	Het
Tenm4	A	T	7: 96,895,772	S2332C	probably damaging	Het
Trim60	A	T	8: 65,001,378	M73K	probably benign	Het
Trpc1	T	C	9: 95,706,865	T769A	probably benign	Het
Tubgcp4	T	A	2: 121,195,477	L601Q	probably benign	Het
Unc5d	T	C	8: 28,844,837	Y154C	possibly damaging	Het
Vmn1r185	A	T	7: 26,611,783	V99E	probably damaging	Het
Vmn1r57	G	T	7: 5,220,857	S127I	possibly damaging	Het
Vmn1r62	T	A	7: 5,675,944	M208K	probably damaging	Het
Vmn2r110	T	C	17: 20,583,380	D311G	possibly damaging	Het
Vmn2r48	C	A	7: 9,942,258	S432I	probably benign	Het
Vmn2r48	T	A	7: 9,942,259	S432C	probably damaging	Het
Vmn2r71	T	C	7: 85,621,234	V536A	probably benign	Het
Vstm2a	A	G	11: 16,259,884	T37A	probably damaging	Het
Wfs1	T	C	5: 36,967,465	H694R	probably damaging	Het
Zdbf2	T	C	1: 63,309,781	S2440P	possibly damaging	Het
Zfp61	A	G	7: 24,291,275		probably null	Het
Zfp64	T	C	2: 168,925,935	T586A	probably benign	Het
Zfp943	T	A	17: 21,992,982	C350S	probably damaging	Het

Other mutations in Proser1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02035:Proser1	APN	3	53478830	missense	probably benign	0.00
IGL02217:Proser1	APN	3	53471491	missense	probably damaging	0.96
IGL02260:Proser1	APN	3	53478944	missense	probably damaging	1.00
IGL02943:Proser1	APN	3	53479103	missense	probably damaging	0.98
donatello	UTSW	3	53467151	missense	probably damaging	1.00
R0166:Proser1	UTSW	3	53480617	missense	possibly damaging	0.89
R0230:Proser1	UTSW	3	53478962	missense	probably damaging	0.99
R0579:Proser1	UTSW	3	53467151	missense	probably damaging	1.00
R0599:Proser1	UTSW	3	53479064	missense	probably benign	0.04
R0616:Proser1	UTSW	3	53474697	missense	probably damaging	0.98
R0622:Proser1	UTSW	3	53477860	missense	probably benign	0.22
R0629:Proser1	UTSW	3	53479064	missense	probably benign	0.04
R0707:Proser1	UTSW	3	53478776	missense	probably damaging	1.00
R1568:Proser1	UTSW	3	53477759	missense	possibly damaging	0.54
R1997:Proser1	UTSW	3	53478871	missense	probably benign	0.10
R2129:Proser1	UTSW	3	53477945	missense	probably benign	0.20
R2207:Proser1	UTSW	3	53478391	missense	probably benign	0.00
R2851:Proser1	UTSW	3	53480545	missense	probably benign	0.07
R4077:Proser1	UTSW	3	53478541	missense	probably damaging	1.00
R4970:Proser1	UTSW	3	53464306	missense	probably damaging	1.00
R4988:Proser1	UTSW	3	53479625	missense	probably damaging	0.98
R5611:Proser1	UTSW	3	53478875	missense	probably benign	0.10
R6090:Proser1	UTSW	3	53478667	missense	probably benign	0.00
R6146:Proser1	UTSW	3	53478119	missense	probably damaging	1.00
R6459:Proser1	UTSW	3	53478329	missense	possibly damaging	0.51
R6880:Proser1	UTSW	3	53477839	missense	probably benign
R7308:Proser1	UTSW	3	53478704	missense	probably benign	0.40
R7456:Proser1	UTSW	3	53478518	missense	probably damaging	0.99
R7787:Proser1	UTSW	3	53473548	missense	probably damaging	1.00
R7903:Proser1	UTSW	3	53479082	nonsense	probably null
R8108:Proser1	UTSW	3	53472088	critical splice donor site	probably null
R8172:Proser1	UTSW	3	53478851	missense	possibly damaging	0.73
R8414:Proser1	UTSW	3	53478556	missense	probably damaging	1.00
R8677:Proser1	UTSW	3	53477701	missense	probably benign	0.01
R9064:Proser1	UTSW	3	53477506	missense	probably damaging	1.00
R9164:Proser1	UTSW	3	53472073	missense	probably benign	0.03
R9555:Proser1	UTSW	3	53471455	missense	possibly damaging	0.81

Predicted Primers

PCR Primer
(F):5'- CGTCCACAGTTTGACCTGTC -3'
(R):5'- TTGTTCTGTTTTCCAAGACAGG -3'

Sequencing Primer
(F):5'- AGTTTGACCTGTCTTTCTATCGATTG -3'
(R):5'- AAAGGTATATGCCACTCGTCTGG -3'

Posted On

2015-05-15