Incidental Mutation 'R0466:Prom2'
ID 41620
Institutional Source Beutler Lab
Gene Symbol Prom2
Ensembl Gene ENSMUSG00000027376
Gene Name prominin 2
Synonyms
MMRRC Submission 038666-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R0466 (G1)
Quality Score 225
Status Validated
Chromosome 2
Chromosomal Location 127368873-127383337 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 127370709 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Serine at position 825 (F825S)
Ref Sequence ENSEMBL: ENSMUSP00000028855 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000028855] [ENSMUST00000103214]
AlphaFold Q3UUY6
Predicted Effect probably damaging
Transcript: ENSMUST00000028855
AA Change: F825S

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000028855
Gene: ENSMUSG00000027376
AA Change: F825S

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
Meta Mutation Damage Score 0.2349 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 96.8%
  • 20x: 94.1%
Validation Efficiency 97% (63/65)
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: 60 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933412E24Rik T C 15: 59,887,321 (GRCm39) Y373C probably benign Het
Abca12 T G 1: 71,341,822 (GRCm39) Q1046H probably damaging Het
Adgrv1 A G 13: 81,714,415 (GRCm39) F956S probably benign Het
Alk A G 17: 72,212,152 (GRCm39) V797A possibly damaging Het
Ascl2 A G 7: 142,522,217 (GRCm39) L77P probably benign Het
Aspm A T 1: 139,405,639 (GRCm39) I1509F probably damaging Het
AY358078 A T 14: 52,043,089 (GRCm39) Y259F unknown Het
Cbs G A 17: 31,835,126 (GRCm39) A450V probably benign Het
Cdh11 T A 8: 103,396,690 (GRCm39) Q213L possibly damaging Het
Cdh26 C T 2: 178,123,425 (GRCm39) R675C possibly damaging Het
Cfap126 T C 1: 170,953,769 (GRCm39) I113T probably damaging Het
Clk4 A G 11: 51,158,155 (GRCm39) D53G possibly damaging Het
Dab1 T C 4: 104,577,747 (GRCm39) L272P probably benign Het
Dmtf1 A T 5: 9,182,454 (GRCm39) probably null Het
Dph5 A C 3: 115,722,359 (GRCm39) D279A probably benign Het
Fbxw19 T A 9: 109,307,717 (GRCm39) T461S probably benign Het
G3bp1 T C 11: 55,389,452 (GRCm39) F383L probably damaging Het
Gcg T C 2: 62,307,282 (GRCm39) D93G probably damaging Het
Gmps A G 3: 63,901,365 (GRCm39) T395A probably damaging Het
H2-Ob A G 17: 34,461,633 (GRCm39) D124G probably damaging Het
Itga8 G T 2: 12,237,697 (GRCm39) A341E probably damaging Het
Itih3 A G 14: 30,634,831 (GRCm39) probably null Het
Kcnh4 C T 11: 100,637,758 (GRCm39) G633E probably benign Het
Kif2c C T 4: 117,029,489 (GRCm39) R215Q possibly damaging Het
Letm1 A C 5: 33,919,074 (GRCm39) probably benign Het
Lypd8l T C 11: 58,503,331 (GRCm39) probably benign Het
Mmp3 A G 9: 7,450,165 (GRCm39) D299G probably damaging Het
Myh8 G T 11: 67,189,405 (GRCm39) A1194S probably benign Het
Naip2 A C 13: 100,298,290 (GRCm39) I582S probably benign Het
Nfib A C 4: 82,416,775 (GRCm39) Y87D probably damaging Het
Nlrp4a T C 7: 26,162,045 (GRCm39) probably benign Het
Nsmce1 A T 7: 125,071,408 (GRCm39) probably benign Het
Odad2 T A 18: 7,286,758 (GRCm39) I158F probably benign Het
Or7g12 T G 9: 18,899,551 (GRCm39) V89G probably benign Het
Or7g27 A T 9: 19,250,475 (GRCm39) T240S probably damaging Het
Patj C A 4: 98,576,393 (GRCm39) Q1193K probably damaging Het
Pcdhb5 G A 18: 37,455,596 (GRCm39) V659M probably damaging Het
Pkd1l3 C G 8: 110,350,281 (GRCm39) D375E possibly damaging Het
Pmis2 T C 7: 30,370,817 (GRCm39) I46V probably benign Het
Ppp2r5e A G 12: 75,509,216 (GRCm39) probably benign Het
Rab11fip2 G A 19: 59,894,675 (GRCm39) A524V possibly damaging Het
Rb1cc1 A C 1: 6,333,491 (GRCm39) probably null Het
Rwdd3 G C 3: 120,952,668 (GRCm39) Q180E possibly damaging Het
Sema6a G A 18: 47,423,112 (GRCm39) probably null Het
Sgcg A T 14: 61,459,135 (GRCm39) C265S probably damaging Het
Slc16a3 T C 11: 120,848,878 (GRCm39) S445P possibly damaging Het
Slc22a3 G A 17: 12,677,380 (GRCm39) Q263* probably null Het
Sorcs3 A G 19: 48,736,758 (GRCm39) T694A probably benign Het
Tbc1d15 T C 10: 115,055,077 (GRCm39) K322E probably damaging Het
Tecta G T 9: 42,284,369 (GRCm39) F905L probably benign Het
Tmeff1 A G 4: 48,636,853 (GRCm39) I184V possibly damaging Het
Ttf1 A G 2: 28,955,419 (GRCm39) H261R possibly damaging Het
Ttll6 T A 11: 96,036,417 (GRCm39) L349M probably damaging Het
Ubac2 G A 14: 122,211,031 (GRCm39) V134M probably damaging Het
Ubxn4 G A 1: 128,190,641 (GRCm39) E256K probably benign Het
Vmn2r25 T G 6: 123,829,008 (GRCm39) I89L probably benign Het
Vmn2r6 A C 3: 64,463,723 (GRCm39) F370L probably damaging Het
Vps13b T A 15: 35,445,748 (GRCm39) Y412* probably null Het
Zfp142 A G 1: 74,624,570 (GRCm39) S85P possibly damaging Het
Zfp516 G A 18: 82,975,579 (GRCm39) probably null 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
IGL01541:Prom2 APN 2 127,371,050 (GRCm39) critical splice donor site probably null
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
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
Predicted Primers PCR Primer
(F):5'- ACACGCAGAAGAACCTGTTAGCTC -3'
(R):5'- GGACTGAAAGTTCCCACATAAGCCG -3'

Sequencing Primer
(F):5'- ACCTGTTAGCTCTGTAAAGACTGG -3'
(R):5'- GTCTTTCTTGCTGCGACACATC -3'
Posted On 2013-05-23