Mutagenetix > Incidental Mutation

Incidental Mutation 'R5162:Esrp2'

397060

Institutional Source

Beutler Lab

Gene Symbol

Esrp2

Ensembl Gene

ENSMUSG00000084128

Gene Name

epithelial splicing regulatory protein 2

Synonyms

9530027K23Rik, Rbm35b

MMRRC Submission

042744-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5162 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

106856951-106863606 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 106859930 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 336 (E336G)

Ref Sequence

ENSEMBL: ENSMUSP00000123114 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000109308] [ENSMUST00000115979] [ENSMUST00000146940] [ENSMUST00000211991]

AlphaFold

Q8K0G8

Predicted Effect

probably benign
Transcript: ENSMUST00000109308

SMART Domains

Protein: ENSMUSP00000104931
Gene: ENSMUSG00000031902

Domain	Start	End	E-Value	Type
low complexity region	153	182	N/A	INTRINSIC
low complexity region	205	225	N/A	INTRINSIC
low complexity region	257	271	N/A	INTRINSIC
low complexity region	286	305	N/A	INTRINSIC
Pfam:RHD_DNA_bind	434	593	4.9e-25	PFAM
IPT	600	699	1.19e-20	SMART
low complexity region	713	722	N/A	INTRINSIC
low complexity region	917	938	N/A	INTRINSIC
low complexity region	954	967	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000115979
AA Change: E337G

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

SMART Domains

Protein: ENSMUSP00000111639
Gene: ENSMUSG00000084128
AA Change: E337G

Domain	Start	End	E-Value	Type
low complexity region	3	15	N/A	INTRINSIC
RRM	248	320	2.58e-1	SMART
RRM	349	424	2.67e-2	SMART
low complexity region	439	459	N/A	INTRINSIC
RRM	466	541	4.17e-3	SMART
low complexity region	549	575	N/A	INTRINSIC
low complexity region	593	614	N/A	INTRINSIC
low complexity region	644	660	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000125955

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000131020

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000137995

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000139319

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000139559

Predicted Effect

probably damaging
Transcript: ENSMUST00000146940
AA Change: E336G

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

SMART Domains

Protein: ENSMUSP00000123114
Gene: ENSMUSG00000084128
AA Change: E336G

Domain	Start	End	E-Value	Type
low complexity region	3	15	N/A	INTRINSIC
RRM	247	319	2.58e-1	SMART
RRM	348	423	2.67e-2	SMART
low complexity region	438	458	N/A	INTRINSIC
RRM	465	540	4.17e-3	SMART
low complexity region	548	574	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000145343

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000155164

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000140509

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000150527

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000142050

Predicted Effect

probably benign
Transcript: ENSMUST00000211991

Meta Mutation Damage Score

0.4236

Coding Region Coverage

1x: 99.3%
3x: 98.6%
10x: 97.2%
20x: 94.8%

Validation Efficiency

98% (61/62)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] ESPR2 is an epithelial cell-type-specific splicing regulator (Warzecha et al., 2009 [PubMed 19285943]).[supplied by OMIM, Aug 2009]
PHENOTYPE: Homozygous null mice exhibit defects in hepatic maturation, and decreased serum albumin levels and total serum protein levels. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2010315B03Rik	T	A	9: 124,056,301 (GRCm39)	T229S	probably benign	Het
Adrb3	T	C	8: 27,717,348 (GRCm39)	E367G	probably benign	Het
Ak9	T	A	10: 41,233,653 (GRCm39)	N630K	probably damaging	Het
Atp8b1	T	C	18: 64,694,733 (GRCm39)	I516M	possibly damaging	Het
Bcor	C	T	X: 11,906,725 (GRCm39)	R1551Q	probably damaging	Het
Cry1	T	A	10: 84,969,150 (GRCm39)	H558L	probably benign	Het
Cstdc3	A	T	16: 36,132,918 (GRCm39)	H65L	probably damaging	Het
Cyp3a57	T	A	5: 145,305,893 (GRCm39)	W126R	probably damaging	Het
Dhx36	A	T	3: 62,401,201 (GRCm39)	V355E	probably damaging	Het
Dpp6	A	G	5: 27,604,013 (GRCm39)		probably benign	Het
Ehmt1	G	T	2: 24,767,509 (GRCm39)	P135T	probably damaging	Het
Enpp2	T	C	15: 54,710,692 (GRCm39)	D694G	probably benign	Het
Faah	A	T	4: 115,857,938 (GRCm39)		probably benign	Het
Fat1	G	A	8: 45,478,846 (GRCm39)	G2608R	probably benign	Het
Fbxo8	A	T	8: 57,022,354 (GRCm39)	Y122F	probably damaging	Het
Fgd5	A	G	6: 92,051,215 (GRCm39)	D1497G	probably damaging	Het
Fn3krp	T	C	11: 121,320,410 (GRCm39)	F252L	probably damaging	Het
Fnip2	T	C	3: 79,389,084 (GRCm39)	Y549C	probably damaging	Het
Gcm2	T	C	13: 41,257,131 (GRCm39)	N206S	probably benign	Het
Grn	C	A	11: 102,321,380 (GRCm39)		probably benign	Het
H2-T10	T	A	17: 36,429,843 (GRCm39)		probably null	Het
Henmt1	T	C	3: 108,847,366 (GRCm39)		probably null	Het
Man1b1	T	A	2: 25,233,365 (GRCm39)	L246Q	probably damaging	Het
Mdh2	T	C	5: 135,812,329 (GRCm39)		probably null	Het
Mocos	T	C	18: 24,787,109 (GRCm39)	F43L	probably damaging	Het
Msh2	C	A	17: 88,030,841 (GRCm39)	A906E	probably benign	Het
Naip5	T	A	13: 100,359,914 (GRCm39)	I441F	possibly damaging	Het
Naip6	C	T	13: 100,437,108 (GRCm39)	A472T	probably benign	Het
Nars2	T	C	7: 96,709,027 (GRCm39)		probably benign	Het
Ncoa2	A	T	1: 13,245,396 (GRCm39)	M434K	possibly damaging	Het
Nlrp4g	T	A	9: 124,350,394 (GRCm38)		noncoding transcript	Het
Or14j8	T	A	17: 38,263,255 (GRCm39)	Q220L	probably benign	Het
Or9a2	G	T	6: 41,748,706 (GRCm39)	H176N	possibly damaging	Het
Pals2	T	A	6: 50,155,495 (GRCm39)	W259R	probably damaging	Het
Pars2	A	G	4: 106,511,735 (GRCm39)	T506A	probably benign	Het
Pkp2	T	C	16: 16,078,200 (GRCm39)	S481P	probably damaging	Het
Plod3	T	C	5: 137,020,161 (GRCm39)	W459R	probably damaging	Het
Pramel13	A	T	4: 144,121,482 (GRCm39)	L181M	probably damaging	Het
Prdm10	A	T	9: 31,251,714 (GRCm39)	I361F	possibly damaging	Het
Ptpro	T	A	6: 137,420,592 (GRCm39)	V1007D	probably damaging	Het
Raver2	T	C	4: 100,959,921 (GRCm39)	C134R	probably damaging	Het
Rnf130	G	C	11: 49,943,722 (GRCm39)	A123P	probably damaging	Het
Slc29a4	G	A	5: 142,707,207 (GRCm39)	A517T	possibly damaging	Het
Slc38a6	T	A	12: 73,376,759 (GRCm39)	S138T	possibly damaging	Het
Spred1	T	C	2: 117,008,102 (GRCm39)	V336A	possibly damaging	Het
Sptlc3	T	A	2: 139,473,263 (GRCm39)	M504K	probably benign	Het
Syt11	T	C	3: 88,655,149 (GRCm39)	D78G	probably damaging	Het
Trim23	C	T	13: 104,317,682 (GRCm39)	T61I	probably damaging	Het
Tsg101	T	C	7: 46,542,174 (GRCm39)	T260A	probably damaging	Het
Tyw5	T	C	1: 57,440,618 (GRCm39)	Y48C	probably damaging	Het
Utp25	G	T	1: 192,796,089 (GRCm39)	T192K	probably damaging	Het
Vmn1r17	A	G	6: 57,337,828 (GRCm39)	V130A	probably benign	Het
Vmn2r89	C	A	14: 51,693,620 (GRCm39)	H323Q	possibly damaging	Het
Vps18	A	G	2: 119,123,423 (GRCm39)	S117G	probably benign	Het
Zfp93	C	G	7: 23,975,757 (GRCm39)	Q581E	probably damaging	Het

Other mutations in Esrp2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01527:Esrp2	APN	8	106,858,865 (GRCm39)	missense	probably benign	0.00
R0419:Esrp2	UTSW	8	106,861,307 (GRCm39)	missense	probably damaging	1.00
R1468:Esrp2	UTSW	8	106,860,453 (GRCm39)	missense	probably damaging	1.00
R1468:Esrp2	UTSW	8	106,860,453 (GRCm39)	missense	probably damaging	1.00
R1528:Esrp2	UTSW	8	106,863,384 (GRCm39)	missense	unknown
R1598:Esrp2	UTSW	8	106,859,905 (GRCm39)	missense	probably damaging	0.97
R1817:Esrp2	UTSW	8	106,861,250 (GRCm39)	missense	probably damaging	1.00
R1885:Esrp2	UTSW	8	106,858,453 (GRCm39)	missense	possibly damaging	0.80
R1886:Esrp2	UTSW	8	106,860,489 (GRCm39)	missense	probably damaging	1.00
R2323:Esrp2	UTSW	8	106,860,934 (GRCm39)	missense	probably benign	0.27
R3761:Esrp2	UTSW	8	106,860,254 (GRCm39)	missense	probably damaging	1.00
R4598:Esrp2	UTSW	8	106,859,343 (GRCm39)	missense	probably damaging	1.00
R4792:Esrp2	UTSW	8	106,859,141 (GRCm39)	missense	probably damaging	1.00
R5091:Esrp2	UTSW	8	106,859,061 (GRCm39)	missense	probably damaging	1.00
R5114:Esrp2	UTSW	8	106,858,820 (GRCm39)	missense	probably benign	0.42
R5678:Esrp2	UTSW	8	106,858,750 (GRCm39)	missense	probably damaging	0.97
R5947:Esrp2	UTSW	8	106,859,565 (GRCm39)	unclassified	probably benign
R7713:Esrp2	UTSW	8	106,860,908 (GRCm39)	missense	probably benign	0.01
R7760:Esrp2	UTSW	8	106,860,102 (GRCm39)	missense	probably benign	0.03
R8348:Esrp2	UTSW	8	106,858,853 (GRCm39)	missense	probably damaging	1.00
R8448:Esrp2	UTSW	8	106,858,853 (GRCm39)	missense	probably damaging	1.00
R8494:Esrp2	UTSW	8	106,861,350 (GRCm39)	missense	probably damaging	0.96
R9245:Esrp2	UTSW	8	106,858,775 (GRCm39)	missense	possibly damaging	0.58

Predicted Primers

PCR Primer
(F):5'- AGCAAAGGCATCCCCAGTAG -3'
(R):5'- CTGAGACCTATGGGCTGGTTTC -3'

Sequencing Primer
(F):5'- CAGTAGGCCTGCCATCAG -3'
(R):5'- CCTGCAGGTATATAAAGCCACAGG -3'

Posted On

2016-06-21