Incidental Mutation 'IGL03022:Shroom2'
ID 408011
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Shroom2
Ensembl Gene ENSMUSG00000045180
Gene Name shroom family member 2
Synonyms Shrm2, Apxl
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.326) question?
Stock # IGL03022
Quality Score
Status
Chromosome X
Chromosomal Location 151392505-151552461 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 151443089 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 692 (V692A)
Ref Sequence ENSEMBL: ENSMUSP00000057500 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000062317] [ENSMUST00000101141]
AlphaFold A2ALU4
Predicted Effect probably benign
Transcript: ENSMUST00000062317
AA Change: V692A

PolyPhen 2 Score 0.075 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000057500
Gene: ENSMUSG00000045180
AA Change: V692A

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 benign
Transcript: ENSMUST00000101141
AA Change: V692A

PolyPhen 2 Score 0.039 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000098701
Gene: ENSMUSG00000045180
AA Change: V692A

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: 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: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acvr2b G T 9: 119,256,587 (GRCm39) R40L probably benign Het
Asph T C 4: 9,517,668 (GRCm39) N402D possibly damaging Het
Brip1 T C 11: 85,968,776 (GRCm39) Y803C probably damaging Het
Cenpc1 T C 5: 86,170,234 (GRCm39) probably benign Het
Dynlt5 A G 4: 102,859,714 (GRCm39) T85A probably benign Het
Fam110b A G 4: 5,799,448 (GRCm39) M289V probably benign Het
Fam193b T C 13: 55,691,475 (GRCm39) N429S probably damaging Het
Folh1 T C 7: 86,395,379 (GRCm39) Y351C possibly damaging Het
Fryl G A 5: 73,216,726 (GRCm39) A2188V possibly damaging Het
Gtf2f1 C T 17: 57,317,971 (GRCm39) probably null Het
Gucy1a1 T C 3: 82,016,404 (GRCm39) K195E probably benign Het
H2-Oa T C 17: 34,313,023 (GRCm39) V100A probably damaging Het
Kcnu1 A T 8: 26,427,614 (GRCm39) K310N probably damaging Het
Mtss1 A G 15: 58,825,439 (GRCm39) S254P probably damaging Het
N4bp2l2 A G 5: 150,566,761 (GRCm39) S516P probably benign Het
Nrcam A G 12: 44,645,225 (GRCm39) D1139G probably damaging Het
Nxpe4 T C 9: 48,304,548 (GRCm39) S212P probably damaging Het
Or1ab2 A C 8: 72,863,968 (GRCm39) K186T probably damaging Het
Or5d47 C T 2: 87,804,341 (GRCm39) V223I probably benign Het
Or5p52 A T 7: 107,502,188 (GRCm39) H88L probably benign Het
Parp2 T C 14: 51,058,553 (GRCm39) Y528H probably damaging Het
Pdgfd T C 9: 6,288,495 (GRCm39) Y50H probably damaging Het
Prkaca A G 8: 84,721,976 (GRCm39) D329G possibly damaging Het
Rbbp8 A G 18: 11,858,559 (GRCm39) probably benign Het
Sele A G 1: 163,882,248 (GRCm39) T578A probably benign Het
Stxbp3 G A 3: 108,708,072 (GRCm39) L410F probably damaging Het
Tcaf1 C A 6: 42,655,060 (GRCm39) G553* probably null Het
Ttn G A 2: 76,576,862 (GRCm39) T24677M probably damaging Het
Vmn2r24 T A 6: 123,755,967 (GRCm39) L13H probably damaging Het
Zfp106 C A 2: 120,359,120 (GRCm39) probably benign Het
Zfp616 A G 11: 73,973,800 (GRCm39) D23G possibly damaging Het
Zfp84 T C 7: 29,474,759 (GRCm39) probably benign Het
Other mutations in Shroom2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00481:Shroom2 APN X 151,406,219 (GRCm39) missense probably benign 0.01
IGL00594:Shroom2 APN X 151,396,512 (GRCm39) missense probably damaging 0.98
IGL01285:Shroom2 APN X 151,442,353 (GRCm39) missense probably damaging 0.99
IGL02869:Shroom2 APN X 151,442,549 (GRCm39) missense probably benign 0.00
R2897:Shroom2 UTSW X 151,443,035 (GRCm39) missense probably benign 0.27
R4785:Shroom2 UTSW X 151,443,903 (GRCm39) missense probably benign 0.03
X0050:Shroom2 UTSW X 151,443,466 (GRCm39) nonsense probably null
Z1177:Shroom2 UTSW X 151,443,030 (GRCm39) missense possibly damaging 0.60
Posted On 2016-08-02