Incidental Mutation 'IGL01991:Prom2'
ID182876
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Prom2
Ensembl Gene ENSMUSG00000027376
Gene Nameprominin 2
Synonyms
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL01991
Quality Score
Status
Chromosome2
Chromosomal Location127526473-127541467 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to A at 127529222 bp
ZygosityHeterozygous
Amino Acid Change Cysteine to Phenylalanine at position 785 (C785F)
Ref Sequence ENSEMBL: ENSMUSP00000099503 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000028855] [ENSMUST00000103214]
Predicted Effect probably damaging
Transcript: ENSMUST00000028855
AA Change: C785F

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000028855
Gene: ENSMUSG00000027376
AA Change: C785F

DomainStartEndE-ValueType
signal peptide 1 21 N/A INTRINSIC
Pfam:Prominin 25 808 3.6e-279 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000103214
AA Change: C785F

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000099503
Gene: ENSMUSG00000027376
AA Change: C785F

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: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700034J05Rik A T 6: 146,953,110 F145I probably benign Het
Acot7 A G 4: 152,223,079 K152E possibly damaging Het
Adamts13 G T 2: 26,990,598 G731V probably damaging Het
Als2cl C T 9: 110,892,917 R584C probably benign Het
Apba1 T A 19: 23,937,472 S679T possibly damaging Het
Asxl3 G A 18: 22,516,162 V403I probably damaging Het
Card11 T C 5: 140,913,378 T14A possibly damaging Het
Creb1 T C 1: 64,559,754 F97L probably benign Het
Crispld1 T A 1: 17,753,017 H407Q probably benign Het
Crtac1 A T 19: 42,414,121 L16Q possibly damaging Het
Cyp2c29 T C 19: 39,330,315 I452T probably damaging Het
Dennd5b A T 6: 149,080,824 D95E probably damaging Het
Dysf C T 6: 84,113,618 P1002L probably damaging Het
Gm6878 G A 14: 67,306,229 probably benign Het
Gm7682 A T 5: 94,445,846 Q10L probably benign Het
Greb1 T C 12: 16,699,681 Y1048C probably damaging Het
Iqcc T A 4: 129,617,789 E105V probably benign Het
Lhx8 A G 3: 154,324,554 L116P probably damaging Het
Lrrk2 A G 15: 91,779,946 D1962G probably damaging Het
Map1b T A 13: 99,429,569 M2215L unknown Het
Mapk8ip3 A T 17: 24,927,861 L136Q possibly damaging Het
Mical3 T C 6: 120,935,211 N1896D probably damaging Het
Mprip A G 11: 59,755,012 E674G probably damaging Het
Olfr1045 T C 2: 86,198,533 N73S probably benign Het
Olfr524 C T 7: 140,202,432 E113K probably damaging Het
Pdzrn4 T A 15: 92,401,926 probably null Het
Prom1 T C 5: 44,047,506 T209A probably benign Het
Psg20 T C 7: 18,684,425 Q139R probably benign Het
Rapgef6 T A 11: 54,552,869 C93S probably benign Het
Rassf2 C T 2: 132,000,432 probably null Het
Scn11a A G 9: 119,819,904 I31T probably damaging Het
Slc4a5 A T 6: 83,263,543 D164V possibly damaging Het
Slco3a1 T C 7: 74,284,396 D676G possibly damaging Het
Tmcc2 T C 1: 132,361,092 I208V probably benign Het
Traf4 T C 11: 78,160,046 D428G possibly damaging Het
Trio T C 15: 27,871,274 I586V possibly damaging Het
Unc80 T A 1: 66,469,509 C46* probably null Het
Vmn2r89 A G 14: 51,452,219 N60D probably benign Het
Wscd1 A T 11: 71,787,723 K391* probably null Het
Wwc2 A T 8: 47,869,866 L400* probably null 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
IGL01541:Prom2 APN 2 127529130 critical splice donor site probably null
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
Posted On2014-05-07