Mutagenetix > Incidental Mutation

Incidental Mutation 'R5947:Esrp2'

472231

Institutional Source

Beutler Lab

Gene Symbol

Esrp2

Ensembl Gene

ENSMUSG00000084128

Gene Name

epithelial splicing regulatory protein 2

Synonyms

9530027K23Rik, Rbm35b

MMRRC Submission

044138-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5947 (G1)

Quality Score

188

Status

Validated

Chromosome

Chromosomal Location

106856951-106863606 bp(-) (GRCm39)

Type of Mutation

unclassified

DNA Base Change (assembly)

T to G at 106859565 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000148551 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000109308] [ENSMUST00000115979] [ENSMUST00000212742] [ENSMUST00000211991] [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

SMART Domains

Protein: ENSMUSP00000111639
Gene: ENSMUSG00000084128

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: ENSMUST00000142050

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000145343

Predicted Effect

probably benign
Transcript: ENSMUST00000212742

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000140509

Predicted Effect

probably benign
Transcript: ENSMUST00000211991

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000150527

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000155164

Predicted Effect

probably benign
Transcript: ENSMUST00000146940

SMART Domains

Protein: ENSMUSP00000123114
Gene: ENSMUSG00000084128

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

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 97.8%
20x: 93.1%

Validation Efficiency

100% (70/70)

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: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb10	T	C	8: 124,694,737 (GRCm39)		probably null	Het
Abt1	T	C	13: 23,606,225 (GRCm39)	E243G	possibly damaging	Het
Afap1l1	A	G	18: 61,876,771 (GRCm39)	S361P	probably damaging	Het
Alms1	T	C	6: 85,596,694 (GRCm39)	S507P	probably benign	Het
Atp13a3	A	G	16: 30,181,518 (GRCm39)	V34A	probably benign	Het
Atpaf2	A	T	11: 60,296,708 (GRCm39)		probably benign	Het
Bbs1	A	C	19: 4,943,022 (GRCm39)	L456R	probably benign	Het
Bri3bp	G	T	5: 125,529,217 (GRCm39)	G84*	probably null	Het
Bri3bp	G	C	5: 125,529,218 (GRCm39)		probably benign	Het
Car10	A	C	11: 93,381,439 (GRCm39)	H134P	probably damaging	Het
Cntrl	A	G	2: 35,006,691 (GRCm39)	E119G	probably damaging	Het
Cxcl3	C	T	5: 90,934,175 (GRCm39)		probably benign	Het
Dppa4	T	C	16: 48,111,471 (GRCm39)	V100A	possibly damaging	Het
Elmo1	G	T	13: 20,474,553 (GRCm39)	E105*	probably null	Het
Exoc3l4	A	G	12: 111,388,835 (GRCm39)	K108R	possibly damaging	Het
Exph5	G	A	9: 53,286,522 (GRCm39)	R1201H	probably benign	Het
Galnt3	A	C	2: 65,914,500 (GRCm39)		probably benign	Het
Gm14486	C	T	2: 30,548,813 (GRCm39)		noncoding transcript	Het
Gna12	T	A	5: 140,746,717 (GRCm39)	I243F	probably damaging	Het
Itga5	A	T	15: 103,265,212 (GRCm39)	W232R	probably damaging	Het
Lekr1	A	T	3: 65,680,498 (GRCm39)		noncoding transcript	Het
Lrp1	C	T	10: 127,425,423 (GRCm39)		probably null	Het
Mast4	T	C	13: 102,872,148 (GRCm39)	M2215V	probably benign	Het
Mfap5	T	C	6: 122,502,945 (GRCm39)	Y52H	probably damaging	Het
Mrps31	A	G	8: 22,904,991 (GRCm39)	K127E	possibly damaging	Het
Mto1	C	T	9: 78,368,311 (GRCm39)	T485M	probably damaging	Het
Mybbp1a	G	A	11: 72,333,257 (GRCm39)	C107Y	probably damaging	Het
Nedd4	G	A	9: 72,638,132 (GRCm39)		probably benign	Het
Nek2	A	G	1: 191,561,597 (GRCm39)	E360G	probably benign	Het
Notch1	T	A	2: 26,352,540 (GRCm39)		probably benign	Het
Nubp1	T	C	16: 10,238,050 (GRCm39)		probably benign	Het
Pcdhb1	G	A	18: 37,399,726 (GRCm39)	R559H	possibly damaging	Het
Pdcd11	G	A	19: 47,117,702 (GRCm39)	V1684I	probably benign	Het
Pggt1b	G	T	18: 46,382,007 (GRCm39)	N258K	probably benign	Het
Pou6f1	C	T	15: 100,484,001 (GRCm39)	V166M	possibly damaging	Het
Pprc1	A	G	19: 46,052,111 (GRCm39)	D546G	possibly damaging	Het
Psapl1	T	C	5: 36,361,651 (GRCm39)	V81A	probably benign	Het
Rin2	T	A	2: 145,686,863 (GRCm39)		probably benign	Het
Rpf1	A	G	3: 146,212,299 (GRCm39)	F347S	probably damaging	Het
Rrp12	A	T	19: 41,859,247 (GRCm39)		probably null	Het
Ryr1	A	T	7: 28,771,349 (GRCm39)	L2557Q	probably null	Het
Slc1a7	T	C	4: 107,867,497 (GRCm39)		probably benign	Het
Slc35e2	T	A	4: 155,696,171 (GRCm39)	M186K	possibly damaging	Het
Slc49a4	T	C	16: 35,550,676 (GRCm39)	T308A	probably benign	Het
Snx6	G	T	12: 54,817,549 (GRCm39)	S116*	probably null	Het
Sptan1	T	C	2: 29,884,379 (GRCm39)		probably null	Het
Sucla2	T	A	14: 73,830,109 (GRCm39)	M382K	probably damaging	Het
Susd5	T	C	9: 113,886,659 (GRCm39)	L16P	possibly damaging	Het
Tmem260	G	A	14: 48,724,258 (GRCm39)	A369T	possibly damaging	Het
Tmprss6	A	G	15: 78,336,722 (GRCm39)	Y393H	probably damaging	Het
Tnrc6c	A	T	11: 117,613,345 (GRCm39)	Q501L	probably damaging	Het
Trim17	A	G	11: 58,856,369 (GRCm39)	Y142C	probably damaging	Het
Trim65	T	C	11: 116,019,108 (GRCm39)	R144G	probably damaging	Het
Trpm1	A	G	7: 63,873,547 (GRCm39)	T601A	probably benign	Het
Ttn	A	T	2: 76,564,688 (GRCm39)	V28483E	probably damaging	Het
Ube2l3	T	C	16: 17,019,340 (GRCm39)		probably null	Het
Ube2l3	G	T	16: 17,019,336 (GRCm39)		probably benign	Het
Yme1l1	T	C	2: 23,085,318 (GRCm39)		probably benign	Het
Zfat	A	G	15: 68,051,806 (GRCm39)	S663P	probably benign	Het
Zfp647	G	A	15: 76,796,285 (GRCm39)	P125L	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
R5162:Esrp2	UTSW	8	106,859,930 (GRCm39)	missense	probably damaging	1.00
R5678:Esrp2	UTSW	8	106,858,750 (GRCm39)	missense	probably damaging	0.97
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'- ACACCATGAGGCCGAATGTC -3'
(R):5'- CTCTCTTTGCCTGTGAGGAG -3'

Sequencing Primer
(F):5'- CATGAGGCCGAATGTCAGCTG -3'
(R):5'- CTGTGAGGAGCTGGCAC -3'

Posted On

2017-03-31