Incidental Mutation 'IGL01527:Esrp2'
List |< first << previous [record 13 of 41] next >> last >|
ID89608
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Esrp2
Ensembl Gene ENSMUSG00000084128
Gene Nameepithelial splicing regulatory protein 2
Synonyms9530027K23Rik, Rbm35b
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL01527
Quality Score
Status
Chromosome8
Chromosomal Location106130319-106136974 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 106132233 bp
ZygosityHeterozygous
Amino Acid Change Threonine to Alanine at position 591 (T591A)
Ref Sequence ENSEMBL: ENSMUSP00000111639 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000109308] [ENSMUST00000115979] [ENSMUST00000146940] [ENSMUST00000211991] [ENSMUST00000212742]
Predicted Effect probably benign
Transcript: ENSMUST00000109308
SMART Domains Protein: ENSMUSP00000104931
Gene: ENSMUSG00000031902

DomainStartEndE-ValueType
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: T591A

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000111639
Gene: ENSMUSG00000084128
AA Change: T591A

DomainStartEndE-ValueType
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: T590A

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000123114
Gene: ENSMUSG00000084128
AA Change: T590A

DomainStartEndE-ValueType
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
Predicted Effect probably benign
Transcript: ENSMUST00000211991
Predicted Effect probably benign
Transcript: ENSMUST00000212742
Coding Region Coverage
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: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2300002M23Rik G T 17: 35,567,833 probably null Het
Abca13 T A 11: 9,290,788 W884R possibly damaging Het
Ahi1 T C 10: 20,960,085 probably benign Het
Ankfn1 G T 11: 89,391,639 P394Q probably benign Het
AW549877 T C 15: 3,988,683 Y170C probably damaging Het
Cacnb2 T C 2: 14,984,270 I393T possibly damaging Het
Ces1a G T 8: 93,045,098 P24T probably damaging Het
Col22a1 T C 15: 71,907,031 E269G probably damaging Het
Cyp24a1 A G 2: 170,496,566 L70P probably damaging Het
Cyp8b1 T C 9: 121,914,995 K424E probably damaging Het
Dicer1 G A 12: 104,691,610 Q1902* probably null Het
Dst T A 1: 34,247,653 L544Q probably damaging Het
Gap43 C T 16: 42,292,153 E82K probably benign Het
Kif17 G A 4: 138,269,086 V125I probably benign Het
Lancl2 T C 6: 57,732,322 S370P probably damaging Het
Macf1 T C 4: 123,493,160 I203V possibly damaging Het
Mphosph9 A G 5: 124,283,624 probably benign Het
Ncapg A G 5: 45,672,384 I143V possibly damaging Het
Nr3c1 A G 18: 39,486,637 V199A probably benign Het
Obscn T A 11: 59,064,417 N3890I possibly damaging Het
Olfr130 A G 17: 38,068,095 N308S probably benign Het
Olfr669 T A 7: 104,938,991 V155E possibly damaging Het
Olfr92 A T 17: 37,111,809 Y58N probably damaging Het
Olfr951 A G 9: 39,393,818 H6R probably benign Het
Palmd C A 3: 116,927,188 E166* probably null Het
Pdzd2 T C 15: 12,445,664 E327G probably damaging Het
Pex13 T C 11: 23,656,111 T40A probably benign Het
Pkd2 T C 5: 104,498,884 probably benign Het
Plb1 A G 5: 32,317,123 T643A probably damaging Het
Prlr T A 15: 10,329,171 D577E probably benign Het
Slc44a3 A G 3: 121,527,128 C75R probably damaging Het
Susd6 A T 12: 80,874,319 N230I possibly damaging Het
Tbx10 A G 19: 3,998,227 R251G probably damaging Het
Ttc30a1 T C 2: 75,980,516 I408V probably benign Het
Uap1l1 A G 2: 25,363,804 probably null Het
Ugt2b5 A G 5: 87,136,209 V308A possibly damaging Het
Usp28 C A 9: 49,025,873 H147Q probably benign Het
Vmn1r203 T C 13: 22,524,277 I76T possibly damaging Het
Vmn2r104 A G 17: 20,042,896 I101T possibly damaging Het
Vmn2r17 T A 5: 109,453,140 L768H probably damaging Het
Other mutations in Esrp2
AlleleSourceChrCoordTypePredicted EffectPPH Score
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
R2323:Esrp2 UTSW 8 106134302 missense probably benign 0.27
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
Posted On2013-12-03