Mutagenetix > Incidental Mutation

Incidental Mutation 'R1885:Esrp2'

209452

Institutional Source

Beutler Lab

Gene Symbol

Esrp2

Ensembl Gene

ENSMUSG00000084128

Gene Name

epithelial splicing regulatory protein 2

Synonyms

9530027K23Rik, Rbm35b

MMRRC Submission

039906-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1885 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

106856951-106863606 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 106858453 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 636 (V636A)

Ref Sequence

ENSEMBL: ENSMUSP00000111639 (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

possibly damaging
Transcript: ENSMUST00000115979
AA Change: V636A

PolyPhen 2 Score 0.801 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000111639
Gene: ENSMUSG00000084128
AA Change: V636A

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: ENSMUST00000150527

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000155164

Predicted Effect

probably benign
Transcript: ENSMUST00000212742

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000142050

Predicted Effect

probably benign
Transcript: ENSMUST00000211991

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000140509

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: 97.0%
3x: 96.1%
10x: 92.7%
20x: 85.1%

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: 84 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700102P08Rik	T	A	9: 108,270,809 (GRCm39)	D124E	possibly damaging	Het
Aarsd1	T	C	11: 101,302,227 (GRCm39)	T278A	probably benign	Het
Acox2	C	T	14: 8,248,102 (GRCm38)	M393I	probably benign	Het
Adcy10	A	G	1: 165,398,377 (GRCm39)	I1491M	probably benign	Het
Adcy3	T	A	12: 4,184,951 (GRCm39)	V209E	probably damaging	Het
Adora3	A	C	3: 105,812,152 (GRCm39)	N13H	possibly damaging	Het
Ap2b1	T	A	11: 83,281,561 (GRCm39)	N822K	probably damaging	Het
Apobec3	A	T	15: 79,781,906 (GRCm39)	H82L	probably damaging	Het
Atg9b	A	T	5: 24,593,252 (GRCm39)	W384R	probably damaging	Het
Atp8a1	A	G	5: 67,904,661 (GRCm39)	V506A	possibly damaging	Het
Atxn1	G	T	13: 45,721,280 (GRCm39)	A205D	probably benign	Het
B4galnt3	T	C	6: 120,200,601 (GRCm39)	E223G	probably damaging	Het
Brip1	C	A	11: 86,029,641 (GRCm39)	G631V	probably damaging	Het
Cacna1i	A	G	15: 80,243,145 (GRCm39)	E434G	probably damaging	Het
Caprin2	A	T	6: 148,779,383 (GRCm39)		probably null	Het
Cblif	G	A	19: 11,729,688 (GRCm39)	A216T	probably benign	Het
Ccdc80	A	C	16: 44,917,083 (GRCm39)	D613A	probably benign	Het
Ccdc81	T	C	7: 89,515,819 (GRCm39)	E620G	possibly damaging	Het
Cdhr18	A	C	14: 13,828,607 (GRCm38)	Y718D	probably damaging	Het
Cebpz	A	T	17: 79,239,545 (GRCm39)	D625E	probably benign	Het
Coq6	C	A	12: 84,419,238 (GRCm39)	N388K	probably damaging	Het
Cracd	A	G	5: 77,004,589 (GRCm39)	T317A	unknown	Het
D430041D05Rik	T	C	2: 104,060,800 (GRCm39)	M1365V	probably benign	Het
Dab1	C	T	4: 104,588,948 (GRCm39)	A524V	probably benign	Het
Dap3	A	G	3: 88,838,281 (GRCm39)	L86P	probably damaging	Het
Dpysl4	T	G	7: 138,676,723 (GRCm39)	V391G	probably damaging	Het
Dyrk4	G	T	6: 126,854,144 (GRCm39)	Q550K	probably benign	Het
Epas1	A	G	17: 87,112,723 (GRCm39)	D107G	probably damaging	Het
Etl4	T	A	2: 20,748,795 (GRCm39)	Y176N	probably damaging	Het
Etnppl	T	C	3: 130,423,111 (GRCm39)	V264A	probably benign	Het
Ezhip	GTCATCATCATCATC	GTCATCATCATCATCATC	X: 5,994,645 (GRCm39)		probably benign	Het
Fer	T	A	17: 64,445,909 (GRCm39)	V790D	probably damaging	Het
Gdpd5	G	A	7: 99,109,204 (GRCm39)	V575I	probably benign	Het
Gfus	G	T	15: 75,798,838 (GRCm39)	T123N	possibly damaging	Het
Gipc3	T	C	10: 81,177,181 (GRCm39)	I130V	probably benign	Het
Iqsec3	G	A	6: 121,405,326 (GRCm39)		probably benign	Het
Kdm5d	G	T	Y: 940,781 (GRCm39)		probably null	Het
Kl	A	G	5: 150,876,959 (GRCm39)	R260G	possibly damaging	Het
Kras	T	C	6: 145,177,843 (GRCm39)	E143G	probably damaging	Het
Ksr1	C	A	11: 78,911,204 (GRCm39)	V11F	probably null	Het
Ksr1	T	C	11: 78,927,347 (GRCm39)	T329A	probably damaging	Het
Marchf6	A	G	15: 31,502,952 (GRCm39)	V83A	probably benign	Het
Mettl2	T	C	11: 105,022,446 (GRCm39)	I212T	possibly damaging	Het
Mgat3	A	G	15: 80,095,820 (GRCm39)	I216V	probably benign	Het
Mkrn3	G	A	7: 62,068,486 (GRCm39)	A435V	probably benign	Het
Mlh1	C	A	9: 111,087,624 (GRCm39)	S24I	probably benign	Het
Mmel1	G	A	4: 154,975,333 (GRCm39)	R424Q	possibly damaging	Het
Mob3a	G	A	10: 80,527,068 (GRCm39)	Q86*	probably null	Het
Myh3	A	G	11: 66,977,453 (GRCm39)	K368E	probably benign	Het
Myo16	T	A	8: 10,372,656 (GRCm39)	N118K	probably damaging	Het
Myo5c	A	G	9: 75,157,043 (GRCm39)	S160G	probably damaging	Het
Nat1	A	T	8: 67,943,653 (GRCm39)	I13F	probably damaging	Het
Ncoa7	T	C	10: 30,524,448 (GRCm39)	N823S	possibly damaging	Het
Nwd1	T	C	8: 73,431,622 (GRCm39)	S1207P	probably benign	Het
Or2y17	T	C	11: 49,231,662 (GRCm39)	L101P	probably damaging	Het
Or4k49	G	T	2: 111,495,099 (GRCm39)	S176I	probably damaging	Het
Or5p57	T	C	7: 107,665,985 (GRCm39)	N7D	probably benign	Het
Or5w22	T	C	2: 87,363,168 (GRCm39)	S264P	probably damaging	Het
Paqr8	A	T	1: 21,005,704 (GRCm39)	H286L	probably damaging	Het
Pdzd4	G	A	X: 72,839,052 (GRCm39)	R419C	probably damaging	Het
Pes1	A	G	11: 3,919,482 (GRCm39)	K52E	probably damaging	Het
Ppp1r13l	T	C	7: 19,111,496 (GRCm39)	S774P	probably damaging	Het
Robo2	T	C	16: 73,713,033 (GRCm39)	D1283G	probably benign	Het
Rp1l1	T	C	14: 64,265,839 (GRCm39)	V475A	probably benign	Het
Scml4	A	G	10: 42,788,223 (GRCm39)	Y51C	probably damaging	Het
Skic3	A	T	13: 76,261,166 (GRCm39)	R112S	probably benign	Het
Skic3	A	G	13: 76,278,354 (GRCm39)	Q556R	probably benign	Het
Slc2a4	C	T	11: 69,835,833 (GRCm39)	V339I	probably benign	Het
Slc39a6	G	A	18: 24,734,539 (GRCm39)		probably null	Het
Slco1b2	A	T	6: 141,628,951 (GRCm39)	Y551F	probably damaging	Het
Snx33	T	C	9: 56,833,121 (GRCm39)	H316R	probably benign	Het
Spata31d1a	T	G	13: 59,849,821 (GRCm39)	D769A	probably damaging	Het
Stmn2	A	T	3: 8,606,964 (GRCm39)	E28V	probably damaging	Het
Syt9	A	G	7: 107,035,736 (GRCm39)	D251G	probably damaging	Het
Tjap1	T	C	17: 46,573,347 (GRCm39)	T37A	probably damaging	Het
Tmc7	A	T	7: 118,160,310 (GRCm39)	F176I	possibly damaging	Het
Tprg1	A	G	16: 25,231,641 (GRCm39)	T206A	probably benign	Het
Ubqlnl	A	T	7: 103,799,272 (GRCm39)	M75K	possibly damaging	Het
Vmn2r115	ATCTTCT	ATCT	17: 23,578,962 (GRCm39)		probably benign	Het
Vmn2r12	C	T	5: 109,239,942 (GRCm39)	G207E	probably damaging	Het
Xrn2	T	G	2: 146,891,281 (GRCm39)	L697*	probably null	Het
Zfp764	A	G	7: 127,004,211 (GRCm39)	F307L	probably benign	Het
Zfp804b	T	C	5: 6,820,376 (GRCm39)	R860G	probably damaging	Het
Zranb2	A	T	3: 157,248,793 (GRCm39)		probably null	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
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
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'- AGCACAACCTCACCTGGTAG -3'
(R):5'- CCTGACTCATTTCTGGTGGAG -3'

Sequencing Primer
(F):5'- CTCACCTGGTAGGCTTGAAAGAC -3'
(R):5'- CCTGACTCATTTCTGGTGGAGATAAC -3'

Posted On

2014-06-30