Incidental Mutation 'IGL02724:Prom2'
ID305128
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 #IGL02724
Quality Score
Status
Chromosome2
Chromosomal Location127526473-127541467 bp(-) (GRCm38)
Type of Mutationsplice site
DNA Base Change (assembly) T to A at 127538657 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000099503 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000028855] [ENSMUST00000103214]
Predicted Effect probably benign
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 benign
Transcript: ENSMUST00000103214
SMART Domains Protein: ENSMUSP00000099503
Gene: ENSMUSG00000027376

DomainStartEndE-ValueType
Pfam:Prominin 18 818 3e-288 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000140156
Predicted Effect noncoding transcript
Transcript: ENSMUST00000155581
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: 66 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Accs T G 2: 93,845,776 K85Q probably damaging Het
Acmsd A T 1: 127,749,085 T116S possibly damaging Het
Agrn T A 4: 156,172,807 K1189* probably null Het
Alk T C 17: 71,985,460 R508G probably benign Het
Arhgap23 T A 11: 97,491,179 Y1123N probably damaging Het
Arl6ip5 G T 6: 97,232,404 M133I probably benign Het
Axin2 G A 11: 108,942,946 G573D possibly damaging Het
B4galt2 A G 4: 117,876,878 probably null Het
Baz2b G T 2: 59,977,374 D180E possibly damaging Het
Btnl6 G T 17: 34,508,175 Y460* probably null Het
C530008M17Rik T C 5: 76,858,459 V889A unknown Het
Cct7 A T 6: 85,459,149 D14V probably damaging Het
Cd55 T A 1: 130,449,412 probably benign Het
Cdc45 C T 16: 18,798,729 M200I probably benign Het
Cdh2 C T 18: 16,629,480 R526Q probably benign Het
Chil1 A C 1: 134,189,243 E315A probably damaging Het
Cmya5 A G 13: 93,096,655 S642P probably benign Het
Cpm C A 10: 117,629,851 T43K probably damaging Het
Cyp8b1 A T 9: 121,915,387 V293D probably benign Het
Dock1 T G 7: 135,163,353 D1691E probably benign Het
Fasn T C 11: 120,809,833 D2120G probably benign Het
Gal3st4 T C 5: 138,265,417 K440R probably benign Het
Gfpt1 A T 6: 87,056,182 K130* probably null Het
Gpr26 T C 7: 131,974,392 probably null Het
Htr2a A T 14: 74,645,062 I163F probably damaging Het
Insrr A G 3: 87,809,572 D673G probably benign Het
Ipo8 G T 6: 148,791,481 C636* probably null Het
Kirrel C A 3: 87,090,473 E248* probably null Het
Lrp6 A G 6: 134,484,265 V743A probably damaging Het
Lrrc45 C A 11: 120,718,318 S374R probably benign Het
Map3k9 G A 12: 81,724,742 P714S probably benign Het
Mrgprb8 T A 7: 48,389,373 L264Q possibly damaging Het
Mroh4 C A 15: 74,606,151 W902L probably benign Het
Nfat5 T A 8: 107,358,735 D535E probably damaging Het
Nfatc3 T C 8: 106,108,185 V713A probably benign Het
Npc1l1 C T 11: 6,214,684 V1122M possibly damaging Het
Nsg2 A G 11: 32,055,011 probably null Het
Olfr1211 C A 2: 88,929,448 R289L probably damaging Het
Olfr282 T A 15: 98,437,779 F103L probably benign Het
Pax9 A T 12: 56,709,819 H314L possibly damaging Het
Phf21a A T 2: 92,360,247 I584F probably damaging Het
Pip5k1c A G 10: 81,313,462 E536G probably benign Het
Plekhm3 A G 1: 64,795,117 S736P probably damaging Het
Ppil2 A G 16: 17,103,602 Y73H probably benign Het
Ppp3cb T A 14: 20,523,577 probably null Het
Prdm9 A T 17: 15,563,260 S14R probably benign Het
Proc A G 18: 32,134,872 I71T probably damaging Het
Psd T C 19: 46,319,545 T675A probably benign Het
Rnf215 G T 11: 4,140,305 R341L probably damaging Het
Ryr3 A G 2: 112,902,576 probably null Het
Sh2d7 C A 9: 54,540,821 T42N probably benign Het
Sh3glb2 C T 2: 30,346,356 G279D probably benign Het
Slc25a46 A G 18: 31,605,815 probably benign Het
Snx17 T C 5: 31,197,046 S167P probably damaging Het
Snx19 A G 9: 30,432,260 N572S possibly damaging Het
Sptbn4 G A 7: 27,367,679 R1937C probably damaging Het
Srrm1 G A 4: 135,325,104 P658L unknown Het
Srsf11 T C 3: 158,016,431 probably benign Het
Taar7b A T 10: 24,000,683 M249L probably benign Het
Tle6 G A 10: 81,600,064 Q6* probably null Het
Ttc30a2 T C 2: 75,976,338 E610G probably benign Het
Twnk G T 19: 45,008,118 R330L probably damaging Het
Unc13a C A 8: 71,656,305 probably benign Het
Vmn2r107 A G 17: 20,356,744 T335A possibly damaging Het
Wdtc1 A T 4: 133,297,478 S469R possibly damaging Het
Zfp382 A T 7: 30,133,737 Y271F 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
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
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 not run
Posted On2015-04-16