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 127368873-127383337 bp(-) (GRCm39)
Type of Mutation critical splice donor site (2 bp from exon)
DNA Base Change (assembly) A to G at 127371050 bp (GRCm39)
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: 118,875,169 (GRCm39) H668Y probably benign Het
Adamts10 A G 17: 33,762,205 (GRCm39) S505G probably benign Het
Ahnak C T 19: 8,985,243 (GRCm39) H2176Y possibly damaging Het
Ash1l G T 3: 88,973,572 (GRCm39) D2544Y probably damaging Het
Ccdc88a T A 11: 29,350,283 (GRCm39) F88L probably benign Het
Cdc42bpa A T 1: 179,978,723 (GRCm39) probably null Het
Celsr3 T C 9: 108,708,907 (GRCm39) V1251A probably damaging Het
CN725425 T A 15: 91,129,955 (GRCm39) F273I possibly damaging Het
Eif2b1 A G 5: 124,714,965 (GRCm39) C104R probably damaging Het
Ercc3 A T 18: 32,381,372 (GRCm39) D396V possibly damaging Het
Fga A T 3: 82,940,014 (GRCm39) D556V probably damaging Het
Frg1 C T 8: 41,863,362 (GRCm39) probably benign Het
Fto T C 8: 92,136,376 (GRCm39) Y217H probably damaging Het
Garin4 A T 1: 190,896,606 (GRCm39) Y12* probably null Het
Grin3a A T 4: 49,792,533 (GRCm39) V400E probably damaging Het
Gtse1 T A 15: 85,759,855 (GRCm39) L682* probably null Het
Igkv6-32 A G 6: 70,051,290 (GRCm39) I22T probably benign Het
Lama1 G A 17: 68,092,065 (GRCm39) R1646H probably benign Het
Lamp1 T C 8: 13,215,905 (GRCm39) C35R probably damaging Het
Lzts3 A T 2: 130,478,126 (GRCm39) L324Q probably damaging Het
Muc6 T A 7: 141,236,069 (GRCm39) R453* probably null Het
Naa35 T A 13: 59,748,777 (GRCm39) H132Q probably damaging Het
Pgm5 C A 19: 24,793,777 (GRCm39) G296W probably damaging Het
Pkd1 T A 17: 24,805,272 (GRCm39) C3275S probably damaging Het
Podxl2 A G 6: 88,826,331 (GRCm39) L325P probably benign Het
Rab12 T C 17: 66,804,404 (GRCm39) S185G probably damaging Het
Rnf43 T G 11: 87,621,046 (GRCm39) M313R probably null Het
Rusc2 T C 4: 43,415,840 (GRCm39) V382A probably benign Het
Sbno1 A T 5: 124,516,618 (GRCm39) probably benign Het
Smg6 T C 11: 74,816,770 (GRCm39) I10T probably benign Het
Smpd1 T C 7: 105,205,033 (GRCm39) F304S possibly damaging Het
Spta1 G A 1: 174,044,725 (GRCm39) V1454I probably benign Het
Tdrd7 A T 4: 46,018,551 (GRCm39) I722F possibly damaging Het
Topors T C 4: 40,262,364 (GRCm39) T307A possibly damaging Het
Ttn C T 2: 76,807,502 (GRCm39) R77Q probably damaging Het
Vmn1r210 C T 13: 23,011,778 (GRCm39) M169I probably benign Het
Zc3h4 A G 7: 16,168,257 (GRCm39) S789G unknown Het
Zfp629 G T 7: 127,211,917 (GRCm39) probably benign Het
Zfp977 C A 7: 42,230,156 (GRCm39) R123I probably benign 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
IGL01300:Prom2 APN 2 127,377,009 (GRCm39) missense probably benign 0.44
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
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 2013-12-03