Incidental Mutation 'IGL01541:Prom2'
ID 90174
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 # IGL01541
Quality Score
Status
Chromosome 2
Chromosomal Location 127526473-127541467 bp(-) (GRCm38)
Type of Mutation critical splice donor site (2 bp from exon)
DNA Base Change (assembly) A to G at 127529130 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000099503 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000028855] [ENSMUST00000028855] [ENSMUST00000103214]
AlphaFold Q3UUY6
Predicted Effect probably null
Transcript: ENSMUST00000028855
SMART Domains Protein: ENSMUSP00000028855
Gene: ENSMUSG00000027376

DomainStartEndE-ValueType
signal peptide 1 21 N/A INTRINSIC
Pfam:Prominin 25 808 3.6e-279 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000028855
SMART Domains Protein: ENSMUSP00000028855
Gene: ENSMUSG00000027376

DomainStartEndE-ValueType
signal peptide 1 21 N/A INTRINSIC
Pfam:Prominin 25 808 3.6e-279 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000103214
SMART Domains Protein: ENSMUSP00000099503
Gene: ENSMUSG00000027376

DomainStartEndE-ValueType
Pfam:Prominin 18 818 3e-288 PFAM
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: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb5 G A 12: 118,911,434 H668Y probably benign Het
Adamts10 A G 17: 33,543,231 S505G probably benign Het
Ahnak C T 19: 9,007,879 H2176Y possibly damaging Het
Ash1l G T 3: 89,066,265 D2544Y probably damaging Het
Ccdc88a T A 11: 29,400,283 F88L probably benign Het
Cdc42bpa A T 1: 180,151,158 probably null Het
Celsr3 T C 9: 108,831,708 V1251A probably damaging Het
CN725425 T A 15: 91,245,752 F273I possibly damaging Het
Eif2b1 A G 5: 124,576,902 C104R probably damaging Het
Ercc3 A T 18: 32,248,319 D396V possibly damaging Het
Fam71a A T 1: 191,164,409 Y12* probably null Het
Fga A T 3: 83,032,707 D556V probably damaging Het
Frg1 C T 8: 41,410,325 probably benign Het
Fto T C 8: 91,409,748 Y217H probably damaging Het
Grin3a A T 4: 49,792,533 V400E probably damaging Het
Gtse1 T A 15: 85,875,654 L682* probably null Het
Igkv6-32 A G 6: 70,074,306 I22T probably benign Het
Lama1 G A 17: 67,785,070 R1646H probably benign Het
Lamp1 T C 8: 13,165,905 C35R probably damaging Het
Lzts3 A T 2: 130,636,206 L324Q probably damaging Het
Muc6 T A 7: 141,649,804 R453* probably null Het
Naa35 T A 13: 59,600,963 H132Q probably damaging Het
Pgm5 C A 19: 24,816,413 G296W probably damaging Het
Pkd1 T A 17: 24,586,298 C3275S probably damaging Het
Podxl2 A G 6: 88,849,349 L325P probably benign Het
Rab12 T C 17: 66,497,409 S185G probably damaging Het
Rnf43 T G 11: 87,730,220 M313R probably null Het
Rusc2 T C 4: 43,415,840 V382A probably benign Het
Sbno1 A T 5: 124,378,555 probably benign Het
Smg6 T C 11: 74,925,944 I10T probably benign Het
Smpd1 T C 7: 105,555,826 F304S possibly damaging Het
Spta1 G A 1: 174,217,159 V1454I probably benign Het
Tdrd7 A T 4: 46,018,551 I722F possibly damaging Het
Topors T C 4: 40,262,364 T307A possibly damaging Het
Ttn C T 2: 76,977,158 R77Q probably damaging Het
Vmn1r210 C T 13: 22,827,608 M169I probably benign Het
Zc3h4 A G 7: 16,434,332 S789G unknown Het
Zfp629 G T 7: 127,612,745 probably benign Het
Zfp977 C A 7: 42,580,732 R123I probably benign 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
IGL01300:Prom2 APN 2 127535089 missense probably benign 0.44
IGL01445:Prom2 APN 2 127539513 splice site probably benign
IGL01472:Prom2 APN 2 127532882 missense probably benign 0.39
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 2013-12-03