Mutagenetix > Incidental Mutation

Incidental Mutation 'R8108:Proser1'

630714

Institutional Source

Beutler Lab

Gene Symbol

Proser1

Ensembl Gene

ENSMUSG00000049504

Gene Name

proline and serine rich 1

Synonyms

2810046L04Rik

MMRRC Submission

067537-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8108 (G1)

Quality Score

225.009

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 A at 53472088 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

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 99.0%
20x: 97.3%

Validation Efficiency

99% (72/73)

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: 73 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acot1	T	A	12: 84,017,361 (GRCm38)	H414Q	probably benign	Het
Actrt2	A	T	4: 154,667,036 (GRCm38)	D214E	probably benign	Het
Ccdc7a	T	C	8: 128,980,153 (GRCm38)	T332A	unknown	Het
Chd9	C	T	8: 90,933,224 (GRCm38)	H271Y	unknown	Het
Depdc5	T	G	5: 32,945,049 (GRCm38)	D966E	probably benign	Het
Dolpp1	A	G	2: 30,396,246 (GRCm38)	Y119C	probably benign	Het
Dscam	G	C	16: 96,643,879 (GRCm38)	D1537E	probably benign	Het
Dusp16	A	G	6: 134,739,873 (GRCm38)	I157T	probably benign	Het
Dyrk2	T	C	10: 118,859,829 (GRCm38)	D508G	probably benign	Het
Endov	T	C	11: 119,507,411 (GRCm38)	V334A	probably benign	Het
Ep400	A	T	5: 110,687,883 (GRCm38)	V1956E	unknown	Het
Erich3	A	T	3: 154,720,115 (GRCm38)	Y83F	possibly damaging	Het
Fbrsl1	T	C	5: 110,378,379 (GRCm38)		probably null	Het
Gm1110	T	C	9: 26,920,661 (GRCm38)	I65V	probably damaging	Het
Gm28374	A	G	19: 6,082,200 (GRCm38)	V19A		Het
Gm436	A	T	4: 144,670,669 (GRCm38)	N164K	probably benign	Het
Gpr107	C	A	2: 31,184,869 (GRCm38)	H336Q	probably damaging	Het
Gpr137b	T	C	13: 13,359,406 (GRCm38)	Y355C		Het
Grm1	C	A	10: 10,720,132 (GRCm38)	R584L	probably benign	Het
Gse1	T	C	8: 120,229,810 (GRCm38)	S347P	unknown	Het
Ier3ip1	T	A	18: 76,940,525 (GRCm38)	I69K	possibly damaging	Het
Impact	T	G	18: 12,984,331 (GRCm38)	L154V	probably benign	Het
Katnb1	T	C	8: 95,093,945 (GRCm38)	F141S	possibly damaging	Het
Kifap3	T	A	1: 163,797,362 (GRCm38)	N162K	probably damaging	Het
Klhl5	A	G	5: 65,148,587 (GRCm38)		probably null	Het
Klre1	A	G	6: 129,584,222 (GRCm38)	D182G	probably benign	Het
Krt42	T	A	11: 100,266,957 (GRCm38)	Y227F	probably benign	Het
Lhcgr	T	A	17: 88,742,050 (GRCm38)	K683*	probably null	Het
Lrrc37a	G	A	11: 103,503,057 (GRCm38)	S514F	probably benign	Het
Lrrc9	G	T	12: 72,454,059 (GRCm38)	L186F	probably damaging	Het
Metrn	A	G	17: 25,795,030 (GRCm38)	V274A	probably benign	Het
Mettl25	A	T	10: 105,823,179 (GRCm38)	F414L	possibly damaging	Het
Mixl1	A	G	1: 180,696,702 (GRCm38)	V104A	probably damaging	Het
Myo9b	T	A	8: 71,348,342 (GRCm38)	M1047K	probably damaging	Het
Nbea	G	A	3: 55,819,315 (GRCm38)	A2081V	probably benign	Het
Ndufs1	A	T	1: 63,150,012 (GRCm38)	D551E	possibly damaging	Het
Nectin3	T	C	16: 46,464,121 (GRCm38)	T67A	possibly damaging	Het
Nme8	C	T	13: 19,650,960 (GRCm38)	V519I	probably benign	Het
Npat	G	T	9: 53,571,129 (GRCm38)	G1379V	probably benign	Het
Obscn	T	A	11: 59,061,634 (GRCm38)	T3870S	probably benign	Het
Olfr1000	T	C	2: 85,608,749 (GRCm38)	R54G	possibly damaging	Het
Olfr1288	T	C	2: 111,479,234 (GRCm38)	V150A	possibly damaging	Het
Olfr177	T	C	16: 58,872,236 (GRCm38)	M305V	probably benign	Het
Olfr379-ps1	T	A	11: 73,433,854 (GRCm38)	H124L	unknown	Het
Olfr871	T	A	9: 20,212,451 (GRCm38)	M34K	possibly damaging	Het
Olfr910	A	G	9: 38,539,410 (GRCm38)	N172D	probably damaging	Het
Parp8	A	T	13: 116,867,073 (GRCm38)	Y769*	probably null	Het
Pcnx	C	T	12: 81,918,819 (GRCm38)	R59*	probably null	Het
Pdzd2	G	A	15: 12,373,506 (GRCm38)	S2181L	probably benign	Het
Phldb1	T	C	9: 44,711,161 (GRCm38)	E65G	probably damaging	Het
Ppif	C	T	14: 25,698,326 (GRCm38)	T157M	probably damaging	Het
Ppp3ca	T	A	3: 136,932,225 (GRCm38)		probably null	Het
Reg3d	T	A	6: 78,376,079 (GRCm38)	K174*	probably null	Het
Rubcn	A	T	16: 32,856,950 (GRCm38)	L55Q	probably damaging	Het
Sec14l3	T	C	11: 4,066,198 (GRCm38)	L39P	probably damaging	Het
Ska3	A	G	14: 57,826,102 (GRCm38)	I4T	probably damaging	Het
Slc30a10	A	G	1: 185,464,154 (GRCm38)	I338V	possibly damaging	Het
Slc35g1	T	A	19: 38,402,831 (GRCm38)	L187H	probably damaging	Het
Slc35g1	C	G	19: 38,402,829 (GRCm38)	S186R	probably damaging	Het
Spata5	T	C	3: 37,431,782 (GRCm38)	S218P	probably benign	Het
Tbc1d5	T	C	17: 50,742,086 (GRCm38)	I659V	probably benign	Het
Tbl3	G	T	17: 24,700,916 (GRCm38)	D751E	probably benign	Het
Tdrd3	T	A	14: 87,486,266 (GRCm38)	D311E	possibly damaging	Het
Tenm4	T	C	7: 96,854,728 (GRCm38)	F1335S	probably benign	Het
Tm2d1	A	T	4: 98,375,023 (GRCm38)	C83S	probably damaging	Het
Tnfrsf22	A	T	7: 143,638,373 (GRCm38)	V192D	unknown	Het
Trpm6	A	G	19: 18,811,790 (GRCm38)	T575A	probably damaging	Het
Uri1	T	C	7: 37,981,673 (GRCm38)	D102G	possibly damaging	Het
Vmn2r1	T	A	3: 64,103,050 (GRCm38)	C570S	probably damaging	Het
Vps13a	C	T	19: 16,640,787 (GRCm38)	V2906I	probably damaging	Het
Zfp472	T	C	17: 32,978,003 (GRCm38)	Y351H	possibly damaging	Het
Zfp874a	G	T	13: 67,443,234 (GRCm38)	Y110*	probably null	Het
Zfp986	T	A	4: 145,899,305 (GRCm38)	N178K	probably benign	Het

Other mutations in Proser1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02035:Proser1	APN	3	53,478,830 (GRCm38)	missense	probably benign	0.00
IGL02217:Proser1	APN	3	53,471,491 (GRCm38)	missense	probably damaging	0.96
IGL02260:Proser1	APN	3	53,478,944 (GRCm38)	missense	probably damaging	1.00
IGL02943:Proser1	APN	3	53,479,103 (GRCm38)	missense	probably damaging	0.98
donatello	UTSW	3	53,467,151 (GRCm38)	missense	probably damaging	1.00
R0166:Proser1	UTSW	3	53,480,617 (GRCm38)	missense	possibly damaging	0.89
R0230:Proser1	UTSW	3	53,478,962 (GRCm38)	missense	probably damaging	0.99
R0579:Proser1	UTSW	3	53,467,151 (GRCm38)	missense	probably damaging	1.00
R0599:Proser1	UTSW	3	53,479,064 (GRCm38)	missense	probably benign	0.04
R0616:Proser1	UTSW	3	53,474,697 (GRCm38)	missense	probably damaging	0.98
R0622:Proser1	UTSW	3	53,477,860 (GRCm38)	missense	probably benign	0.22
R0629:Proser1	UTSW	3	53,479,064 (GRCm38)	missense	probably benign	0.04
R0707:Proser1	UTSW	3	53,478,776 (GRCm38)	missense	probably damaging	1.00
R1568:Proser1	UTSW	3	53,477,759 (GRCm38)	missense	possibly damaging	0.54
R1997:Proser1	UTSW	3	53,478,871 (GRCm38)	missense	probably benign	0.10
R2129:Proser1	UTSW	3	53,477,945 (GRCm38)	missense	probably benign	0.20
R2207:Proser1	UTSW	3	53,478,391 (GRCm38)	missense	probably benign	0.00
R2851:Proser1	UTSW	3	53,480,545 (GRCm38)	missense	probably benign	0.07
R4077:Proser1	UTSW	3	53,478,541 (GRCm38)	missense	probably damaging	1.00
R4093:Proser1	UTSW	3	53,479,712 (GRCm38)	critical splice donor site	probably null
R4970:Proser1	UTSW	3	53,464,306 (GRCm38)	missense	probably damaging	1.00
R4988:Proser1	UTSW	3	53,479,625 (GRCm38)	missense	probably damaging	0.98
R5611:Proser1	UTSW	3	53,478,875 (GRCm38)	missense	probably benign	0.10
R6090:Proser1	UTSW	3	53,478,667 (GRCm38)	missense	probably benign	0.00
R6146:Proser1	UTSW	3	53,478,119 (GRCm38)	missense	probably damaging	1.00
R6459:Proser1	UTSW	3	53,478,329 (GRCm38)	missense	possibly damaging	0.51
R6880:Proser1	UTSW	3	53,477,839 (GRCm38)	missense	probably benign
R7308:Proser1	UTSW	3	53,478,704 (GRCm38)	missense	probably benign	0.40
R7456:Proser1	UTSW	3	53,478,518 (GRCm38)	missense	probably damaging	0.99
R7787:Proser1	UTSW	3	53,473,548 (GRCm38)	missense	probably damaging	1.00
R7903:Proser1	UTSW	3	53,479,082 (GRCm38)	nonsense	probably null
R8172:Proser1	UTSW	3	53,478,851 (GRCm38)	missense	possibly damaging	0.73
R8414:Proser1	UTSW	3	53,478,556 (GRCm38)	missense	probably damaging	1.00
R8677:Proser1	UTSW	3	53,477,701 (GRCm38)	missense	probably benign	0.01
R9064:Proser1	UTSW	3	53,477,506 (GRCm38)	missense	probably damaging	1.00
R9164:Proser1	UTSW	3	53,472,073 (GRCm38)	missense	probably benign	0.03
R9555:Proser1	UTSW	3	53,471,455 (GRCm38)	missense	possibly damaging	0.81

Predicted Primers

PCR Primer
(F):5'- TCATGGCCTTAGCTGGACTTG -3'
(R):5'- AACCTTTGTCTGGCATCTCTGAG -3'

Sequencing Primer
(F):5'- GACTTGCTGTCATCTGGATGCC -3'
(R):5'- CATCTCTGAGGGTAATGCAGTCAG -3'

Posted On

2020-06-30