Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01081:Proser2'

50441

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Proser2

Ensembl Gene

ENSMUSG00000045319

Gene Name

proline and serine rich 2

Synonyms

5430407P10Rik

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.051) question?

Stock #

IGL01081

Quality Score

Status

Chromosome

Chromosomal Location

6103304-6135100 bp(-) (GRCm39)

Type of Mutation

makesense

DNA Base Change (assembly)

A to G at 6105149 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Stop codon to Arginine at position 472 (*472R)

Ref Sequence

ENSEMBL: ENSMUSP00000110592 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000054254] [ENSMUST00000114942] [ENSMUST00000126551]

AlphaFold

Q8C5R2

Predicted Effect

probably null
Transcript: ENSMUST00000054254
AA Change: *472R

SMART Domains

Protein: ENSMUSP00000060780
Gene: ENSMUSG00000045319
AA Change: *472R

Domain	Start	End	E-Value	Type
low complexity region	26	43	N/A	INTRINSIC
Pfam:SARG	44	469	1.6e-120	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000114942
AA Change: *472R

SMART Domains

Protein: ENSMUSP00000110592
Gene: ENSMUSG00000045319
AA Change: *472R

Domain	Start	End	E-Value	Type
low complexity region	26	43	N/A	INTRINSIC
low complexity region	90	105	N/A	INTRINSIC
low complexity region	162	179	N/A	INTRINSIC
Pfam:SARG	425	469	1.3e-12	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000126551

SMART Domains

Protein: ENSMUSP00000115240
Gene: ENSMUSG00000045319

Domain	Start	End	E-Value	Type
low complexity region	26	43	N/A	INTRINSIC
Pfam:SARG	44	187	3.3e-38	PFAM

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 46 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acad8	A	G	9: 26,901,890 (GRCm39)	L158P	probably damaging	Het
Aco1	A	G	4: 40,197,576 (GRCm39)	Q860R	probably benign	Het
Actl11	A	T	9: 107,806,181 (GRCm39)	Q168L	possibly damaging	Het
Adam26b	T	C	8: 43,972,975 (GRCm39)	I676V	probably benign	Het
Aldoart2	A	C	12: 55,612,920 (GRCm39)	I282L	probably benign	Het
Capns1	G	T	7: 29,889,565 (GRCm39)	S211R	probably benign	Het
Cps1	T	C	1: 67,245,983 (GRCm39)	V1158A	probably damaging	Het
Cryl1	C	T	14: 57,523,821 (GRCm39)		probably null	Het
Cxcr5	A	G	9: 44,425,607 (GRCm39)		probably benign	Het
Dcaf13	A	G	15: 38,982,201 (GRCm39)	K56E	probably damaging	Het
Dlx6	T	G	6: 6,867,068 (GRCm39)	S85A	probably damaging	Het
Dsg2	C	T	18: 20,722,999 (GRCm39)		probably benign	Het
Dync1li1	T	A	9: 114,549,665 (GRCm39)	S412T	possibly damaging	Het
Ebf3	C	A	7: 136,827,625 (GRCm39)		probably benign	Het
Fads3	T	C	19: 10,030,366 (GRCm39)	I168T	probably benign	Het
Gm10295	G	A	7: 71,000,296 (GRCm39)	P95S	unknown	Het
Gm43638	T	C	5: 87,634,455 (GRCm39)	T51A	probably damaging	Het
Gm5114	G	A	7: 39,060,071 (GRCm39)		probably benign	Het
Gucy2c	G	A	6: 136,679,737 (GRCm39)	T974M	probably damaging	Het
Ighv1-19-1	T	C	12: 114,672,258 (GRCm39)		probably benign	Het
Kri1	A	T	9: 21,191,723 (GRCm39)	L173Q	probably damaging	Het
Lztfl1	T	C	9: 123,531,338 (GRCm39)	D210G	probably benign	Het
Morc2a	T	A	11: 3,638,149 (GRCm39)	N958K	probably damaging	Het
Msl3l2	G	A	10: 55,992,021 (GRCm39)	A249T	probably benign	Het
Nlrp4a	A	G	7: 26,149,254 (GRCm39)	E287G	probably benign	Het
Nlrp9a	A	T	7: 26,257,519 (GRCm39)	N290I	possibly damaging	Het
Or2b28	T	G	13: 21,531,185 (GRCm39)	L29R	probably damaging	Het
Or4e2	A	G	14: 52,688,484 (GRCm39)	T205A	probably benign	Het
Or5al6	C	T	2: 85,976,955 (GRCm39)	G41D	probably benign	Het
Pcsk7	A	G	9: 45,840,005 (GRCm39)	D731G	probably benign	Het
Plppr5	T	A	3: 117,480,298 (GRCm39)		probably benign	Het
Podxl	T	C	6: 31,505,639 (GRCm39)	T135A	possibly damaging	Het
Pole	T	G	5: 110,485,106 (GRCm39)	C407G	possibly damaging	Het
Prl	C	A	13: 27,249,024 (GRCm39)	N224K	possibly damaging	Het
Prnp	A	T	2: 131,778,340 (GRCm39)		probably benign	Het
Rhag	T	C	17: 41,122,178 (GRCm39)	S38P	possibly damaging	Het
Rnf146	T	C	10: 29,223,856 (GRCm39)	D10G	probably damaging	Het
Rps3a1	T	C	3: 86,049,085 (GRCm39)	D29G	probably benign	Het
Sv2a	A	T	3: 96,097,012 (GRCm39)	I446F	probably benign	Het
Tbc1d30	C	A	10: 121,103,319 (GRCm39)	R571L	probably damaging	Het
Tfrc	T	A	16: 32,443,646 (GRCm39)		probably null	Het
Tnfaip1	G	A	11: 78,419,129 (GRCm39)	P156S	probably damaging	Het
Vmn1r226	T	C	17: 20,908,166 (GRCm39)	S133P	probably damaging	Het
Wnt9b	C	T	11: 103,622,836 (GRCm39)	R189K	probably damaging	Het
Ythdc2	A	G	18: 44,983,726 (GRCm39)	H564R	probably benign	Het
Zfp442	C	A	2: 150,251,267 (GRCm39)	E211*	probably null	Het

Other mutations in Proser2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R0482:Proser2	UTSW	2	6,118,721 (GRCm39)	missense	probably damaging	0.99
R1656:Proser2	UTSW	2	6,107,870 (GRCm39)	missense	probably damaging	1.00
R2164:Proser2	UTSW	2	6,105,506 (GRCm39)	missense	possibly damaging	0.95
R6981:Proser2	UTSW	2	6,118,801 (GRCm39)	missense	probably damaging	1.00
R7779:Proser2	UTSW	2	6,107,878 (GRCm39)	critical splice acceptor site	probably null
R9232:Proser2	UTSW	2	6,106,015 (GRCm39)	missense	probably benign	0.00
R9590:Proser2	UTSW	2	6,105,794 (GRCm39)	missense	probably benign
R9741:Proser2	UTSW	2	6,105,580 (GRCm39)	missense	probably benign	0.03

Posted On

2013-06-21