Mutagenetix > Incidental Mutation

Incidental Mutation 'R2323:Esrp2'

244808

Institutional Source

Beutler Lab

Gene Symbol

Esrp2

Ensembl Gene

ENSMUSG00000084128

Gene Name

epithelial splicing regulatory protein 2

Synonyms

9530027K23Rik, Rbm35b

MMRRC Submission

040314-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R2323 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

106130319-106136974 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 106134302 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Valine at position 196 (D196V)

Ref Sequence

ENSEMBL: ENSMUSP00000123114 (fasta)

Gene Model

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

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 benign
Transcript: ENSMUST00000115979
AA Change: D196V

PolyPhen 2 Score 0.269 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000111639
Gene: ENSMUSG00000084128
AA Change: D196V

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

noncoding transcript
Transcript: ENSMUST00000140509

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000142050

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000145343

Predicted Effect

probably benign
Transcript: ENSMUST00000146940
AA Change: D196V

PolyPhen 2 Score 0.269 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000123114
Gene: ENSMUSG00000084128
AA Change: D196V

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: ENSMUST00000150527

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000155164

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.4%
20x: 95.3%

Validation Efficiency

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: 34 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
5830473C10Rik	T	A	5: 90,584,852	Y507*	probably null	Het
Abca2	G	T	2: 25,445,175	M2008I	probably benign	Het
Adgrv1	A	G	13: 81,595,179	S68P	probably damaging	Het
Anks3	T	C	16: 4,950,770		probably null	Het
Asap2	T	C	12: 21,203,968	I160T	probably damaging	Het
Asb15	T	A	6: 24,556,601	F32I	probably benign	Het
Catip	A	T	1: 74,363,278	M103L	probably benign	Het
Cela2a	G	C	4: 141,826,079		probably benign	Het
Crebrf	T	C	17: 26,763,607		probably benign	Het
Dnah10	T	C	5: 124,742,000	M450T	probably damaging	Het
Dst	T	C	1: 34,228,437	S5165P	possibly damaging	Het
Hmox2	A	T	16: 4,765,856	K263*	probably null	Het
Ints10	A	G	8: 68,819,345	H566R	probably benign	Het
Ints12	G	A	3: 133,109,365	M444I	possibly damaging	Het
Liph	A	G	16: 21,984,004	V105A	probably damaging	Het
Myo1e	T	A	9: 70,378,758	Y941*	probably null	Het
Myo7b	T	C	18: 31,971,345	E1450G	probably damaging	Het
Myt1	G	T	2: 181,806,557	A594S	probably damaging	Het
Npas3	T	A	12: 54,068,346	Y666N	probably damaging	Het
Npsr1	A	G	9: 24,300,436	K240E	probably damaging	Het
Olfr652	T	C	7: 104,564,619	F133L	probably benign	Het
Rtkn2	A	G	10: 68,001,934	I102M	probably damaging	Het
Rundc1	T	C	11: 101,425,275	F58L	probably damaging	Het
Snrpc	T	G	17: 27,847,974	M91R	unknown	Het
Tgfbr2	T	C	9: 116,110,144	K205R	possibly damaging	Het
Tmem181a	T	A	17: 6,295,786	L185H	probably damaging	Het
Tnfrsf21	C	A	17: 43,085,529	S568*	probably null	Het
Tulp1	C	T	17: 28,362,482	G239D	probably damaging	Het
Vmn1r234	T	C	17: 21,229,703	I293T	probably benign	Het
Vmn1r26	T	C	6: 58,008,857	K116E	probably damaging	Het
Vmn2r98	T	A	17: 19,065,819	I193K	probably benign	Het
Wnk4	T	A	11: 101,268,481	S575T	probably damaging	Het
Zfp558	A	T	9: 18,469,277		probably null	Het
Zscan18	T	C	7: 12,775,459		probably benign	Het

Other mutations in Esrp2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01527:Esrp2	APN	8	106132233	missense	probably benign	0.00
R0419:Esrp2	UTSW	8	106134675	missense	probably damaging	1.00
R1468:Esrp2	UTSW	8	106133821	missense	probably damaging	1.00
R1468:Esrp2	UTSW	8	106133821	missense	probably damaging	1.00
R1528:Esrp2	UTSW	8	106136752	missense	unknown
R1598:Esrp2	UTSW	8	106133273	missense	probably damaging	0.97
R1817:Esrp2	UTSW	8	106134618	missense	probably damaging	1.00
R1885:Esrp2	UTSW	8	106131821	missense	possibly damaging	0.80
R1886:Esrp2	UTSW	8	106133857	missense	probably damaging	1.00
R3761:Esrp2	UTSW	8	106133622	missense	probably damaging	1.00
R4598:Esrp2	UTSW	8	106132711	missense	probably damaging	1.00
R4792:Esrp2	UTSW	8	106132509	missense	probably damaging	1.00
R5091:Esrp2	UTSW	8	106132429	missense	probably damaging	1.00
R5114:Esrp2	UTSW	8	106132188	missense	probably benign	0.42
R5162:Esrp2	UTSW	8	106133298	missense	probably damaging	1.00
R5678:Esrp2	UTSW	8	106132118	missense	probably damaging	0.97
R5947:Esrp2	UTSW	8	106132933	unclassified	probably benign
R7713:Esrp2	UTSW	8	106134276	missense	probably benign	0.01
R7760:Esrp2	UTSW	8	106133470	missense	probably benign	0.03
R8348:Esrp2	UTSW	8	106132221	missense	probably damaging	1.00
R8448:Esrp2	UTSW	8	106132221	missense	probably damaging	1.00
R8494:Esrp2	UTSW	8	106134718	missense	probably damaging	0.96
R9245:Esrp2	UTSW	8	106132143	missense	possibly damaging	0.58

Predicted Primers

PCR Primer
(F):5'- GCAGAGGGGTTTCTACCTTG -3'
(R):5'- CATGTGCATGATGCCGTATGG -3'

Sequencing Primer
(F):5'- CAGAGGGGTTTCTACCTTGTGTTCTC -3'
(R):5'- AGACAGGTCTATGTTTTTAGCCTC -3'

Posted On

2014-10-30