Incidental Mutation 'IGL00594:Shroom2'
ID 3083
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 # IGL00594
Quality Score
Status
Chromosome X
Chromosomal Location 151392505-151552461 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 151396512 bp (GRCm39)
Zygosity Heterozygous
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]
AlphaFold A2ALU4
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: 192,857,109 (GRCm39) T154A probably benign Het
Acox1 A G 11: 116,065,331 (GRCm39) probably benign Het
Adgrg2 G A X: 159,268,773 (GRCm39) V677I probably benign Het
Aifm1 T C X: 47,570,976 (GRCm39) T386A probably benign Het
Aspm T C 1: 139,415,160 (GRCm39) probably benign Het
Fgfr2 A G 7: 129,830,453 (GRCm39) V175A probably damaging Het
Gm382 T C X: 125,970,775 (GRCm39) Y987H probably benign Het
Golga3 A T 5: 110,352,841 (GRCm39) M911L probably benign Het
Hmgxb3 A G 18: 61,290,811 (GRCm39) V354A probably benign Het
Ifne T C 4: 88,798,041 (GRCm39) N126D probably benign Het
Igkv3-7 T C 6: 70,584,807 (GRCm39) V49A possibly damaging Het
Kbtbd8 A T 6: 95,103,494 (GRCm39) Y381F probably damaging Het
Klc1 C T 12: 111,743,318 (GRCm39) T215M probably damaging Het
Lrp2 A T 2: 69,316,624 (GRCm39) V2119E probably benign Het
Lrrc7 A G 3: 157,892,647 (GRCm39) V322A probably benign Het
Mageb5b C T X: 90,679,091 (GRCm39) Q348* probably null Het
Ms4a14 A G 19: 11,278,983 (GRCm39) S1192P possibly damaging Het
Ndufaf6 T C 4: 11,062,127 (GRCm39) Y168C probably damaging Het
Plcg2 C T 8: 118,282,810 (GRCm39) T97I possibly damaging Het
Rasgrp4 T C 7: 28,847,966 (GRCm39) probably benign Het
Rgs22 T C 15: 36,083,777 (GRCm39) H515R probably benign Het
Rpn1 G T 6: 88,072,611 (GRCm39) R318L probably damaging Het
Tars3 T A 7: 65,325,880 (GRCm39) probably null Het
Tbc1d12 A G 19: 38,884,487 (GRCm39) E346G possibly damaging Het
Tbccd1 A G 16: 22,641,294 (GRCm39) F361S possibly damaging Het
Tenm1 G T X: 41,803,913 (GRCm39) P837T probably benign Het
Tmem144 A G 3: 79,746,474 (GRCm39) V27A probably benign Het
Zfp616 T A 11: 73,973,789 (GRCm39) N19K possibly damaging Het
Zkscan7 T C 9: 122,724,659 (GRCm39) Y543H possibly damaging Het
Other mutations in Shroom2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00481:Shroom2 APN X 151,406,219 (GRCm39) missense probably benign 0.01
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
IGL03022:Shroom2 APN X 151,443,089 (GRCm39) missense probably benign 0.08
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 2012-04-20