Incidental Mutation 'IGL00481:Shroom2'
ID 3082
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 # IGL00481
Quality Score
Status
Chromosome X
Chromosomal Location 151392505-151552461 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 151406219 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 1034 (S1034P)
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: S1034P

PolyPhen 2 Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)
SMART Domains Protein: ENSMUSP00000057500
Gene: ENSMUSG00000045180
AA Change: S1034P

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: S1040P

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
SMART Domains Protein: ENSMUSP00000098701
Gene: ENSMUSG00000045180
AA Change: S1040P

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: ENSMUST00000124141
Predicted Effect noncoding transcript
Transcript: ENSMUST00000137217
Predicted Effect noncoding transcript
Transcript: ENSMUST00000141677
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: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca13 T C 11: 9,240,969 (GRCm39) L944P probably damaging Het
Akap13 A G 7: 75,373,643 (GRCm39) S1885G probably damaging Het
Aqp3 A G 4: 41,093,632 (GRCm39) Y261H probably damaging Het
Arap2 A T 5: 62,793,305 (GRCm39) N1380K probably damaging Het
Barx2 T C 9: 31,758,141 (GRCm39) I266V unknown Het
BC034090 C T 1: 155,108,267 (GRCm39) R360H probably benign Het
Bmal2 T A 6: 146,711,164 (GRCm39) M56K probably benign Het
Ccnb2 T C 9: 70,326,189 (GRCm39) K52E probably damaging Het
Ccp110 G A 7: 118,329,220 (GRCm39) V868I possibly damaging Het
Cfap300 T C 9: 8,042,432 (GRCm39) Y57C probably damaging Het
Cyld G T 8: 89,433,918 (GRCm39) V236F probably damaging Het
Dst T C 1: 34,208,410 (GRCm39) probably benign Het
Ehmt1 G T 2: 24,728,830 (GRCm39) A637E possibly damaging Het
Erlin1 G T 19: 44,057,758 (GRCm39) Y22* probably null Het
Ezh1 A T 11: 101,090,128 (GRCm39) M539K possibly damaging Het
Fancc A T 13: 63,548,059 (GRCm39) I80N probably damaging Het
Fat1 G A 8: 45,503,977 (GRCm39) S4447N probably benign Het
Fem1al A G 11: 29,774,755 (GRCm39) L234P probably damaging Het
Fhip2a A G 19: 57,369,777 (GRCm39) E440G probably benign Het
Frem3 A G 8: 81,395,439 (GRCm39) Q1822R possibly damaging Het
Iqgap1 C T 7: 80,409,592 (GRCm39) V248I probably benign Het
Itch T C 2: 155,054,943 (GRCm39) I749T probably damaging Het
Kcna10 T A 3: 107,102,830 (GRCm39) M487K probably benign Het
Krt87 A T 15: 101,386,092 (GRCm39) L223Q probably benign Het
Mtmr2 T C 9: 13,697,212 (GRCm39) I84T probably benign Het
Myocd G A 11: 65,077,980 (GRCm39) T477M probably damaging Het
Nfic A T 10: 81,244,054 (GRCm39) V240E possibly damaging Het
Or4d2 A G 11: 87,784,447 (GRCm39) I101T possibly damaging Het
Prkdc A T 16: 15,608,330 (GRCm39) Y3044F probably benign Het
Prkg1 A G 19: 30,549,022 (GRCm39) I636T probably benign Het
Ptpru A G 4: 131,535,546 (GRCm39) V477A probably benign Het
Rab7b T A 1: 131,626,329 (GRCm39) M119K possibly damaging Het
Sec61a1 T C 6: 88,483,922 (GRCm39) probably benign Het
Sectm1b A G 11: 120,946,799 (GRCm39) V32A probably benign Het
Sipa1l3 A T 7: 29,085,533 (GRCm39) I688N probably damaging Het
Slc24a1 T C 9: 64,835,301 (GRCm39) Y942C probably damaging Het
Smg1 C T 7: 117,810,017 (GRCm39) R139K possibly damaging Het
Stt3b G A 9: 115,080,915 (GRCm39) T574I probably benign Het
Thoc2 A G X: 40,968,768 (GRCm39) I76T possibly damaging Het
Tpm3 C T 3: 89,995,024 (GRCm39) T180M probably damaging Het
Uqcrfs1 C A 13: 30,724,908 (GRCm39) V211F probably benign Het
Usp47 A G 7: 111,673,990 (GRCm39) S418G probably benign Het
Usp5 T C 6: 124,806,316 (GRCm39) T15A probably benign Het
Vps13c T C 9: 67,768,147 (GRCm39) L122P probably damaging Het
Zfp677 A T 17: 21,617,930 (GRCm39) E329V probably benign Het
Zfyve16 A T 13: 92,653,046 (GRCm39) N846K possibly damaging Het
Zp1 G T 19: 10,896,141 (GRCm39) P195T probably damaging Het
Other mutations in Shroom2
AlleleSourceChrCoordTypePredicted EffectPPH Score
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
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