Incidental Mutation 'IGL01300:Prom2'
ID 75236
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Prom2
Ensembl Gene ENSMUSG00000027376
Gene Name prominin 2
Synonyms
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL01300
Quality Score
Status
Chromosome 2
Chromosomal Location 127368873-127383337 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 127377009 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Histidine at position 535 (L535H)
Ref Sequence ENSEMBL: ENSMUSP00000099503 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000028855] [ENSMUST00000103214]
AlphaFold Q3UUY6
Predicted Effect probably benign
Transcript: ENSMUST00000028855
AA Change: L535H

PolyPhen 2 Score 0.440 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000028855
Gene: ENSMUSG00000027376
AA Change: L535H

DomainStartEndE-ValueType
signal peptide 1 21 N/A INTRINSIC
Pfam:Prominin 25 808 3.6e-279 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000103214
AA Change: L535H

PolyPhen 2 Score 0.440 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000099503
Gene: ENSMUSG00000027376
AA Change: L535H

DomainStartEndE-ValueType
Pfam:Prominin 18 818 3e-288 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000140156
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 encodes a member of the prominin family of pentaspan membrane glycoproteins. The encoded protein localizes to basal epithelial cells and may be involved in the organization of plasma membrane microdomains. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2009]
PHENOTYPE: Homozygous mutant mice exhibited signs of anemia, with decreased mean red blood cell count and decreased mean hemoglobin and hematocrit levels. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 33 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Anxa8 A G 14: 33,821,700 (GRCm39) D300G probably benign Het
Cacna1g T C 11: 94,324,738 (GRCm39) H1161R probably benign Het
Col14a1 G A 15: 55,331,372 (GRCm39) R1471Q unknown Het
Gm14496 A T 2: 181,642,753 (GRCm39) E808V probably damaging Het
Gm1968 T C 16: 29,781,038 (GRCm39) noncoding transcript Het
Gzmb G A 14: 56,497,653 (GRCm39) R196C probably benign Het
Hkdc1 A G 10: 62,231,040 (GRCm39) probably benign Het
Itgal T A 7: 126,913,290 (GRCm39) V629E probably damaging Het
Jak2 T A 19: 29,287,083 (GRCm39) Y1050N probably damaging Het
Lrrc69 C T 4: 14,773,663 (GRCm39) probably benign Het
Mmd T C 11: 90,140,537 (GRCm39) M1T probably null Het
Myh6 A G 14: 55,200,548 (GRCm39) V191A possibly damaging Het
Mynn A G 3: 30,667,755 (GRCm39) N485S probably damaging Het
Naa30 C T 14: 49,410,714 (GRCm39) T214M probably damaging Het
Ncoa3 A T 2: 165,910,381 (GRCm39) T1265S probably benign Het
Or10al2 C A 17: 37,983,778 (GRCm39) T288K probably damaging Het
Or1j10 T C 2: 36,267,054 (GRCm39) S89P probably benign Het
Prex1 A G 2: 166,480,327 (GRCm39) C138R possibly damaging Het
Pros1 T C 16: 62,734,174 (GRCm39) F327L possibly damaging Het
Ros1 A G 10: 51,977,809 (GRCm39) M1479T probably benign Het
Scn9a G A 2: 66,318,397 (GRCm39) Q1465* probably null Het
Serpinb3b A G 1: 107,083,573 (GRCm39) probably benign Het
Sipa1l3 G A 7: 29,099,253 (GRCm39) Q339* probably null Het
Slc34a2 A C 5: 53,225,469 (GRCm39) probably null Het
Smc3 T A 19: 53,630,283 (GRCm39) probably benign Het
Tmem30a A G 9: 79,682,382 (GRCm39) probably null Het
Trappc11 A T 8: 47,954,903 (GRCm39) D878E probably benign Het
Trrap C T 5: 144,741,628 (GRCm39) T1325M probably damaging Het
Ttc12 A T 9: 49,359,222 (GRCm39) probably benign Het
Vmn1r237 T A 17: 21,534,337 (GRCm39) I20N probably damaging Het
Vmn2r115 T A 17: 23,578,755 (GRCm39) S743T probably damaging Het
Vmn2r74 A G 7: 85,606,414 (GRCm39) Y311H probably benign Het
Vnn3 T A 10: 23,740,263 (GRCm39) F189I possibly damaging Het
Other mutations in Prom2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01024:Prom2 APN 2 127,383,059 (GRCm39) missense probably benign 0.04
IGL01140:Prom2 APN 2 127,373,125 (GRCm39) splice site probably benign
IGL01445:Prom2 APN 2 127,381,433 (GRCm39) splice site probably benign
IGL01472:Prom2 APN 2 127,374,802 (GRCm39) missense probably benign 0.39
IGL01541:Prom2 APN 2 127,371,050 (GRCm39) critical splice donor site probably null
IGL01991:Prom2 APN 2 127,371,142 (GRCm39) missense probably damaging 1.00
IGL02421:Prom2 APN 2 127,373,802 (GRCm39) critical splice acceptor site probably null
IGL02557:Prom2 APN 2 127,371,391 (GRCm39) missense possibly damaging 0.85
IGL02724:Prom2 APN 2 127,380,577 (GRCm39) splice site probably benign
IGL02826:Prom2 APN 2 127,373,036 (GRCm39) missense probably benign 0.07
IGL02830:Prom2 APN 2 127,376,989 (GRCm39) missense possibly damaging 0.88
IGL02990:Prom2 APN 2 127,370,734 (GRCm39) missense probably benign 0.10
R0110:Prom2 UTSW 2 127,373,033 (GRCm39) missense possibly damaging 0.53
R0133:Prom2 UTSW 2 127,380,258 (GRCm39) splice site probably benign
R0165:Prom2 UTSW 2 127,381,434 (GRCm39) splice site probably benign
R0220:Prom2 UTSW 2 127,383,027 (GRCm39) missense probably benign 0.03
R0466:Prom2 UTSW 2 127,370,709 (GRCm39) missense probably damaging 0.99
R0505:Prom2 UTSW 2 127,374,787 (GRCm39) missense possibly damaging 0.82
R0605:Prom2 UTSW 2 127,381,915 (GRCm39) critical splice donor site probably null
R0633:Prom2 UTSW 2 127,381,445 (GRCm39) missense probably benign 0.19
R0947:Prom2 UTSW 2 127,380,183 (GRCm39) missense possibly damaging 0.69
R1682:Prom2 UTSW 2 127,382,082 (GRCm39) missense possibly damaging 0.90
R1806:Prom2 UTSW 2 127,374,802 (GRCm39) missense probably damaging 1.00
R1859:Prom2 UTSW 2 127,383,017 (GRCm39) missense probably damaging 0.97
R1864:Prom2 UTSW 2 127,381,707 (GRCm39) missense probably benign 0.00
R1866:Prom2 UTSW 2 127,378,514 (GRCm39) missense probably damaging 0.99
R3824:Prom2 UTSW 2 127,377,593 (GRCm39) splice site probably benign
R4472:Prom2 UTSW 2 127,382,111 (GRCm39) missense probably benign 0.06
R5078:Prom2 UTSW 2 127,373,757 (GRCm39) missense probably benign 0.00
R5889:Prom2 UTSW 2 127,371,331 (GRCm39) missense possibly damaging 0.79
R5930:Prom2 UTSW 2 127,372,053 (GRCm39) nonsense probably null
R6214:Prom2 UTSW 2 127,381,695 (GRCm39) critical splice donor site probably null
R6215:Prom2 UTSW 2 127,381,695 (GRCm39) critical splice donor site probably null
R6914:Prom2 UTSW 2 127,372,295 (GRCm39) missense possibly damaging 0.78
R7099:Prom2 UTSW 2 127,381,698 (GRCm39) missense probably benign
R7427:Prom2 UTSW 2 127,381,731 (GRCm39) missense probably damaging 0.99
R7428:Prom2 UTSW 2 127,381,731 (GRCm39) missense probably damaging 0.99
R7525:Prom2 UTSW 2 127,374,701 (GRCm39) missense probably benign
R8477:Prom2 UTSW 2 127,381,124 (GRCm39) missense probably benign 0.01
R9287:Prom2 UTSW 2 127,380,185 (GRCm39) missense probably damaging 0.98
R9337:Prom2 UTSW 2 127,371,094 (GRCm39) missense probably damaging 0.99
Z1176:Prom2 UTSW 2 127,374,695 (GRCm39) missense probably damaging 1.00
Z1177:Prom2 UTSW 2 127,381,446 (GRCm39) missense probably benign 0.19
Z1177:Prom2 UTSW 2 127,380,225 (GRCm39) missense probably damaging 1.00
Posted On 2013-10-07