Incidental Mutation 'IGL00594:Shroom2'
ID3083
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Shroom2
Ensembl Gene ENSMUSG00000045180
Gene Nameshroom family member 2
SynonymsApxl, Shrm2
Accession Numbers
Is this an essential gene? Possibly non essential (E-score: 0.326) question?
Stock #IGL00594
Quality Score
Status
ChromosomeX
Chromosomal Location152609509-152769465 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 152613516 bp
ZygosityHeterozygous
Amino Acid Change Phenylalanine to Tyrosine at position 1359 (F1359Y)
Ref Sequence ENSEMBL: ENSMUSP00000098701 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000062317] [ENSMUST00000101141]
Predicted Effect possibly damaging
Transcript: ENSMUST00000062317
AA Change: F1353Y

PolyPhen 2 Score 0.534 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000057500
Gene: ENSMUSG00000045180
AA Change: F1353Y

DomainStartEndE-ValueType
low complexity region 4 20 N/A INTRINSIC
PDZ 35 108 1.77e-15 SMART
low complexity region 140 159 N/A INTRINSIC
low complexity region 317 326 N/A INTRINSIC
Pfam:ASD1 661 840 2.4e-76 PFAM
low complexity region 1137 1158 N/A INTRINSIC
Pfam:ASD2 1185 1475 7.8e-116 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000101141
AA Change: F1359Y

PolyPhen 2 Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000098701
Gene: ENSMUSG00000045180
AA Change: F1359Y

DomainStartEndE-ValueType
low complexity region 4 20 N/A INTRINSIC
PDZ 35 108 1.77e-15 SMART
low complexity region 140 159 N/A INTRINSIC
low complexity region 317 326 N/A INTRINSIC
Pfam:ASD1 662 840 9e-59 PFAM
low complexity region 999 1014 N/A INTRINSIC
low complexity region 1143 1164 N/A INTRINSIC
Pfam:ASD2 1192 1481 1.3e-115 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000137217
Predicted Effect noncoding transcript
Transcript: ENSMUST00000152746
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene represents the human homolog of Xenopus laevis apical protein (APX) gene, which is implicated in amiloride-sensitive sodium channel activity. It is expressed in endothelial cells and facilitates the formation of a contractile network within endothelial cells. Depletion of this gene results in an increase in endothelial sprouting, migration, and angiogenesis. This gene is highly expressed in the retina, and is a strong candidate for ocular albinism type 1 syndrome. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Mar 2016]
Allele List at MGI
Other mutations in this stock
Total: 29 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A130010J15Rik A G 1: 193,174,801 T154A probably benign Het
Acox1 A G 11: 116,174,505 probably benign Het
Adgrg2 G A X: 160,485,777 V677I probably benign Het
Aifm1 T C X: 48,482,099 T386A probably benign Het
Aspm T C 1: 139,487,422 probably benign Het
Fgfr2 A G 7: 130,228,723 V175A probably damaging Het
Gm14781 C T X: 91,635,485 Q348* probably null Het
Gm382 T C X: 127,063,152 Y987H probably benign Het
Golga3 A T 5: 110,204,975 M911L probably benign Het
Hmgxb3 A G 18: 61,157,739 V354A probably benign Het
Ifne T C 4: 88,879,804 N126D probably benign Het
Igkv3-7 T C 6: 70,607,823 V49A possibly damaging Het
Kbtbd8 A T 6: 95,126,513 Y381F probably damaging Het
Klc1 C T 12: 111,776,884 T215M probably damaging Het
Lrp2 A T 2: 69,486,280 V2119E probably benign Het
Lrrc7 A G 3: 158,187,010 V322A probably benign Het
Ms4a14 A G 19: 11,301,619 S1192P possibly damaging Het
Ndufaf6 T C 4: 11,062,127 Y168C probably damaging Het
Plcg2 C T 8: 117,556,071 T97I possibly damaging Het
Rasgrp4 T C 7: 29,148,541 probably benign Het
Rgs22 T C 15: 36,083,631 H515R probably benign Het
Rpn1 G T 6: 88,095,629 R318L probably damaging Het
Tarsl2 T A 7: 65,676,132 probably null Het
Tbc1d12 A G 19: 38,896,043 E346G possibly damaging Het
Tbccd1 A G 16: 22,822,544 F361S possibly damaging Het
Tenm1 G T X: 42,715,036 P837T probably benign Het
Tmem144 A G 3: 79,839,167 V27A probably benign Het
Zfp616 T A 11: 74,082,963 N19K possibly damaging Het
Zkscan7 T C 9: 122,895,594 Y543H possibly damaging Het
Other mutations in Shroom2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00481:Shroom2 APN X 152623223 missense probably benign 0.01
IGL01285:Shroom2 APN X 152659357 missense probably damaging 0.99
IGL02869:Shroom2 APN X 152659553 missense probably benign 0.00
IGL03022:Shroom2 APN X 152660093 missense probably benign 0.08
R2897:Shroom2 UTSW X 152660039 missense probably benign 0.27
R4785:Shroom2 UTSW X 152660907 missense probably benign 0.03
X0050:Shroom2 UTSW X 152660470 nonsense probably null
Posted On2012-04-20