Mutagenetix > Incidental Mutation

Incidental Mutation 'R7760:Esrp2'

597799

Institutional Source

Beutler Lab

Gene Symbol

Esrp2

Ensembl Gene

ENSMUSG00000084128

Gene Name

epithelial splicing regulatory protein 2

Synonyms

9530027K23Rik, Rbm35b

MMRRC Submission

045816-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7760 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

106856951-106863606 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 106860102 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Aspartic acid at position 326 (E326D)

Ref Sequence

ENSEMBL: ENSMUSP00000111639 (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: E326D

PolyPhen 2 Score 0.031 (Sensitivity: 0.95; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000111639
Gene: ENSMUSG00000084128
AA Change: E326D

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

probably benign
Transcript: ENSMUST00000146940
AA Change: E325D

PolyPhen 2 Score 0.031 (Sensitivity: 0.95; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000123114
Gene: ENSMUSG00000084128
AA Change: E325D

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

Meta Mutation Damage Score

0.0846

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.2%

Validation Efficiency

100% (55/55)

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: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Anxa11	C	T	14: 25,873,251 (GRCm39)	Q162*	probably null	Het
Arg1	T	G	10: 24,803,361 (GRCm39)		probably benign	Het
Arl6	T	C	16: 59,439,169 (GRCm39)	D175G	probably damaging	Het
Capg	A	G	6: 72,534,769 (GRCm39)	R199G	probably damaging	Het
Ceacam1	T	A	7: 25,171,450 (GRCm39)	E338V	probably damaging	Het
Clec4d	A	G	6: 123,247,300 (GRCm39)	N148D	probably benign	Het
Ctr9	T	G	7: 110,645,808 (GRCm39)	I653R	probably damaging	Het
Dmwd	C	T	7: 18,814,660 (GRCm39)	L437F	probably damaging	Het
Dnah7b	T	A	1: 46,240,413 (GRCm39)	L1510Q	probably damaging	Het
Efcab5	T	A	11: 77,042,752 (GRCm39)	E136D	probably benign	Het
Elfn2	C	T	15: 78,558,041 (GRCm39)	A169T	probably benign	Het
Elp1	A	G	4: 56,790,892 (GRCm39)	V287A	probably benign	Het
Fbrs	T	C	7: 127,088,572 (GRCm39)	V718A	probably damaging	Het
Fbxl21	C	T	13: 56,684,816 (GRCm39)	R307C	probably benign	Het
Fbxl21	T	C	13: 56,674,747 (GRCm39)	S33P	probably benign	Het
Gatad2b	C	T	3: 90,261,776 (GRCm39)	R461W	probably damaging	Het
Gm19410	T	A	8: 36,269,491 (GRCm39)	C1109S	probably damaging	Het
Gm6882	T	A	7: 21,161,409 (GRCm39)	D153V	probably damaging	Het
Golga3	A	G	5: 110,353,716 (GRCm39)	E918G	probably benign	Het
Greb1	T	C	12: 16,773,417 (GRCm39)	N219S	probably benign	Het
Grpel1	G	T	5: 36,627,986 (GRCm39)	R89L	probably damaging	Het
Ighv5-12	T	A	12: 113,665,795 (GRCm39)	Q101L	probably benign	Het
Ldb3	T	A	14: 34,264,460 (GRCm39)	N590I	probably damaging	Het
Man2c1	T	C	9: 57,046,647 (GRCm39)	V636A	probably benign	Het
Mblac2	G	T	13: 81,859,996 (GRCm39)	V117L	probably benign	Het
Muc6	T	A	7: 141,237,322 (GRCm39)		probably null	Het
Nfatc3	A	G	8: 106,834,973 (GRCm39)	E773G	possibly damaging	Het
Ngef	T	C	1: 87,468,495 (GRCm39)	D88G	probably benign	Het
Nipbl	T	C	15: 8,388,186 (GRCm39)	E478G	probably damaging	Het
Or2t6	T	C	14: 14,175,905 (GRCm38)	Y59C	probably damaging	Het
Pbx4	C	A	8: 70,285,445 (GRCm39)	D29E	probably benign	Het
Pcdhgb5	A	G	18: 37,864,690 (GRCm39)	I162V	not run	Het
Pdcd11	G	A	19: 47,101,637 (GRCm39)	V941M	possibly damaging	Het
Pigr	A	T	1: 130,774,368 (GRCm39)	R449S	possibly damaging	Het
Plcb2	T	C	2: 118,541,869 (GRCm39)	T914A	probably benign	Het
Ppp5c	A	G	7: 16,740,274 (GRCm39)	S387P	probably damaging	Het
Rnf7l	T	C	10: 63,257,316 (GRCm39)	K68R	probably damaging	Het
Rtkn2	T	G	10: 67,841,439 (GRCm39)	S196A	probably damaging	Het
Sec31a	A	G	5: 100,540,487 (GRCm39)	F400L	probably damaging	Het
Senp7	A	T	16: 55,959,442 (GRCm39)	M251L	probably benign	Het
Slc6a5	T	C	7: 49,596,365 (GRCm39)	F612L	probably benign	Het
Slc7a9	T	C	7: 35,156,500 (GRCm39)	I314T	possibly damaging	Het
Smc5	A	C	19: 23,213,254 (GRCm39)	S553A	probably benign	Het
Spaca3	T	A	11: 80,755,389 (GRCm39)	V133D	probably damaging	Het
Taco1	T	A	11: 105,963,938 (GRCm39)	D232E	possibly damaging	Het
Tarbp1	C	T	8: 127,179,546 (GRCm39)	R664H	not run	Het
Tlk2	T	C	11: 105,169,993 (GRCm39)	I674T	probably damaging	Het
Tnxb	A	T	17: 34,931,911 (GRCm39)	E2148V	probably damaging	Het
Tom1l2	T	C	11: 60,165,791 (GRCm39)	S59G	probably benign	Het
Traj46	A	T	14: 54,409,813 (GRCm39)	H7L		Het
Traj46	T	G	14: 54,409,814 (GRCm39)	H7Q		Het
Trav6-4	T	A	14: 53,692,103 (GRCm39)	L70Q	possibly damaging	Het
Trmt1l	C	T	1: 151,318,425 (GRCm39)	T245I	possibly damaging	Het
Wac	T	A	18: 7,921,913 (GRCm39)	C601S	probably benign	Het
Wnt3	T	A	11: 103,702,266 (GRCm39)	H145Q	probably benign	Het
Zfp948	T	C	17: 21,808,628 (GRCm39)	C607R	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
R5947:Esrp2	UTSW	8	106,859,565 (GRCm39)	unclassified	probably benign
R7713:Esrp2	UTSW	8	106,860,908 (GRCm39)	missense	probably benign	0.01
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'- TAGAACATCTGTTGGCCCG -3'
(R):5'- TCATCCGATTCGTGGACAGC -3'

Sequencing Primer
(F):5'- TCTTCCCGTGATAGGAAACG -3'
(R):5'- TTCGTGGACAGCGAGCAG -3'

Posted On

2019-11-26