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 127526473-127541467 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) A to T at 127535089 bp (GRCm38)
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: 34,099,743 D300G probably benign Het
Cacna1g T C 11: 94,433,912 H1161R probably benign Het
Col14a1 G A 15: 55,467,976 R1471Q unknown Het
Gm14496 A T 2: 182,000,960 E808V probably damaging Het
Gm1968 T C 16: 29,962,220 noncoding transcript Het
Gzmb G A 14: 56,260,196 R196C probably benign Het
Hkdc1 A G 10: 62,395,261 probably benign Het
Itgal T A 7: 127,314,118 V629E probably damaging Het
Jak2 T A 19: 29,309,683 Y1050N probably damaging Het
Lrrc69 C T 4: 14,773,663 probably benign Het
Mmd T C 11: 90,249,711 M1T probably null Het
Myh6 A G 14: 54,963,091 V191A possibly damaging Het
Mynn A G 3: 30,613,606 N485S probably damaging Het
Naa30 C T 14: 49,173,257 T214M probably damaging Het
Ncoa3 A T 2: 166,068,461 T1265S probably benign Het
Olfr118 C A 17: 37,672,887 T288K probably damaging Het
Olfr338 T C 2: 36,377,042 S89P probably benign Het
Prex1 A G 2: 166,638,407 C138R possibly damaging Het
Pros1 T C 16: 62,913,811 F327L possibly damaging Het
Ros1 A G 10: 52,101,713 M1479T probably benign Het
Scn9a G A 2: 66,488,053 Q1465* probably null Het
Serpinb3b A G 1: 107,155,843 probably benign Het
Sipa1l3 G A 7: 29,399,828 Q339* probably null Het
Slc34a2 A C 5: 53,068,127 probably null Het
Smc3 T A 19: 53,641,852 probably benign Het
Tmem30a A G 9: 79,775,100 probably null Het
Trappc11 A T 8: 47,501,868 D878E probably benign Het
Trrap C T 5: 144,804,818 T1325M probably damaging Het
Ttc12 A T 9: 49,447,922 probably benign Het
Vmn1r237 T A 17: 21,314,075 I20N probably damaging Het
Vmn2r115 T A 17: 23,359,781 S743T probably damaging Het
Vmn2r74 A G 7: 85,957,206 Y311H probably benign Het
Vnn3 T A 10: 23,864,365 F189I possibly damaging Het
Other mutations in Prom2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01024:Prom2 APN 2 127541139 missense probably benign 0.04
IGL01140:Prom2 APN 2 127531205 splice site probably benign
IGL01445:Prom2 APN 2 127539513 splice site probably benign
IGL01472:Prom2 APN 2 127532882 missense probably benign 0.39
IGL01541:Prom2 APN 2 127529130 critical splice donor site probably null
IGL01991:Prom2 APN 2 127529222 missense probably damaging 1.00
IGL02421:Prom2 APN 2 127531882 critical splice acceptor site probably null
IGL02557:Prom2 APN 2 127529471 missense possibly damaging 0.85
IGL02724:Prom2 APN 2 127538657 splice site probably benign
IGL02826:Prom2 APN 2 127531116 missense probably benign 0.07
IGL02830:Prom2 APN 2 127535069 missense possibly damaging 0.88
IGL02990:Prom2 APN 2 127528814 missense probably benign 0.10
R0110:Prom2 UTSW 2 127531113 missense possibly damaging 0.53
R0133:Prom2 UTSW 2 127538338 splice site probably benign
R0165:Prom2 UTSW 2 127539514 splice site probably benign
R0220:Prom2 UTSW 2 127541107 missense probably benign 0.03
R0466:Prom2 UTSW 2 127528789 missense probably damaging 0.99
R0505:Prom2 UTSW 2 127532867 missense possibly damaging 0.82
R0605:Prom2 UTSW 2 127539995 critical splice donor site probably null
R0633:Prom2 UTSW 2 127539525 missense probably benign 0.19
R0947:Prom2 UTSW 2 127538263 missense possibly damaging 0.69
R1682:Prom2 UTSW 2 127540162 missense possibly damaging 0.90
R1806:Prom2 UTSW 2 127532882 missense probably damaging 1.00
R1859:Prom2 UTSW 2 127541097 missense probably damaging 0.97
R1864:Prom2 UTSW 2 127539787 missense probably benign 0.00
R1866:Prom2 UTSW 2 127536594 missense probably damaging 0.99
R3824:Prom2 UTSW 2 127535673 splice site probably benign
R4472:Prom2 UTSW 2 127540191 missense probably benign 0.06
R5078:Prom2 UTSW 2 127531837 missense probably benign 0.00
R5889:Prom2 UTSW 2 127529411 missense possibly damaging 0.79
R5930:Prom2 UTSW 2 127530133 nonsense probably null
R6214:Prom2 UTSW 2 127539775 critical splice donor site probably null
R6215:Prom2 UTSW 2 127539775 critical splice donor site probably null
R6914:Prom2 UTSW 2 127530375 missense possibly damaging 0.78
R7099:Prom2 UTSW 2 127539778 missense probably benign
R7427:Prom2 UTSW 2 127539811 missense probably damaging 0.99
R7428:Prom2 UTSW 2 127539811 missense probably damaging 0.99
R7525:Prom2 UTSW 2 127532781 missense probably benign
R8477:Prom2 UTSW 2 127539204 missense probably benign 0.01
R9287:Prom2 UTSW 2 127538265 missense probably damaging 0.98
R9337:Prom2 UTSW 2 127529174 missense probably damaging 0.99
Z1176:Prom2 UTSW 2 127532775 missense probably damaging 1.00
Z1177:Prom2 UTSW 2 127538305 missense probably damaging 1.00
Z1177:Prom2 UTSW 2 127539526 missense probably benign 0.19
Posted On 2013-10-07