Incidental Mutation 'IGL01527:Esrp2'
ID 89608
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Esrp2
Ensembl Gene ENSMUSG00000084128
Gene Name epithelial splicing regulatory protein 2
Synonyms 9530027K23Rik, Rbm35b
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL01527
Quality Score
Status
Chromosome 8
Chromosomal Location 106856951-106863606 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 106858865 bp (GRCm39)
Zygosity Heterozygous
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] [ENSMUST00000212742] [ENSMUST00000211991]
AlphaFold Q8K0G8
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 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: ENSMUST00000145343
Predicted Effect probably benign
Transcript: ENSMUST00000212742
Predicted Effect noncoding transcript
Transcript: ENSMUST00000142050
Predicted Effect probably benign
Transcript: ENSMUST00000211991
Predicted Effect noncoding transcript
Transcript: ENSMUST00000139559
Predicted Effect noncoding transcript
Transcript: ENSMUST00000150527
Predicted Effect noncoding transcript
Transcript: ENSMUST00000140509
Predicted Effect noncoding transcript
Transcript: ENSMUST00000155164
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: 35,878,730 (GRCm39) probably null Het
Abca13 T A 11: 9,240,788 (GRCm39) W884R possibly damaging Het
Ahi1 T C 10: 20,835,984 (GRCm39) probably benign Het
Ankfn1 G T 11: 89,282,465 (GRCm39) P394Q probably benign Het
Cacnb2 T C 2: 14,989,081 (GRCm39) I393T possibly damaging Het
Ces1a G T 8: 93,771,726 (GRCm39) P24T probably damaging Het
Col22a1 T C 15: 71,778,880 (GRCm39) E269G probably damaging Het
Cyp24a1 A G 2: 170,338,486 (GRCm39) L70P probably damaging Het
Cyp8b1 T C 9: 121,744,061 (GRCm39) K424E probably damaging Het
Dicer1 G A 12: 104,657,869 (GRCm39) Q1902* probably null Het
Dst T A 1: 34,286,734 (GRCm39) L544Q probably damaging Het
Gap43 C T 16: 42,112,516 (GRCm39) E82K probably benign Het
Ift70a1 T C 2: 75,810,860 (GRCm39) I408V probably benign Het
Kif17 G A 4: 137,996,397 (GRCm39) V125I probably benign Het
Lancl2 T C 6: 57,709,307 (GRCm39) S370P probably damaging Het
Macf1 T C 4: 123,386,953 (GRCm39) I203V possibly damaging Het
Mphosph9 A G 5: 124,421,687 (GRCm39) probably benign Het
Ncapg A G 5: 45,829,726 (GRCm39) I143V possibly damaging Het
Nr3c1 A G 18: 39,619,690 (GRCm39) V199A probably benign Het
Obscn T A 11: 58,955,243 (GRCm39) N3890I possibly damaging Het
Or2g7 A G 17: 38,378,986 (GRCm39) N308S probably benign Het
Or2h2c A T 17: 37,422,701 (GRCm39) Y58N probably damaging Het
Or52n5 T A 7: 104,588,198 (GRCm39) V155E possibly damaging Het
Or8g32 A G 9: 39,305,114 (GRCm39) H6R probably benign Het
Palmd C A 3: 116,720,837 (GRCm39) E166* probably null Het
Pdzd2 T C 15: 12,445,750 (GRCm39) E327G probably damaging Het
Pex13 T C 11: 23,606,111 (GRCm39) T40A probably benign Het
Pkd2 T C 5: 104,646,750 (GRCm39) probably benign Het
Plb1 A G 5: 32,474,467 (GRCm39) T643A probably damaging Het
Prlr T A 15: 10,329,257 (GRCm39) D577E probably benign Het
Rimoc1 T C 15: 4,018,165 (GRCm39) Y170C probably damaging Het
Slc44a3 A G 3: 121,320,777 (GRCm39) C75R probably damaging Het
Susd6 A T 12: 80,921,093 (GRCm39) N230I possibly damaging Het
Tbx10 A G 19: 4,048,227 (GRCm39) R251G probably damaging Het
Uap1l1 A G 2: 25,253,816 (GRCm39) probably null Het
Ugt2b5 A G 5: 87,284,068 (GRCm39) V308A possibly damaging Het
Usp28 C A 9: 48,937,173 (GRCm39) H147Q probably benign Het
Vmn1r203 T C 13: 22,708,447 (GRCm39) I76T possibly damaging Het
Vmn2r104 A G 17: 20,263,158 (GRCm39) I101T possibly damaging Het
Vmn2r17 T A 5: 109,601,006 (GRCm39) L768H probably damaging Het
Other mutations in Esrp2
AlleleSourceChrCoordTypePredicted EffectPPH Score
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
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
Posted On 2013-12-03