Incidental Mutation 'R1864:Prom2'
ID 208457
Institutional Source Beutler Lab
Gene Symbol Prom2
Ensembl Gene ENSMUSG00000027376
Gene Name prominin 2
Synonyms
MMRRC Submission 039887-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R1864 (G1)
Quality Score 225
Status Not validated
Chromosome 2
Chromosomal Location 127368873-127383337 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 127381707 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 203 (D203G)
Ref Sequence ENSEMBL: ENSMUSP00000099503 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000028855] [ENSMUST00000103214]
AlphaFold Q3UUY6
Predicted Effect probably benign
Transcript: ENSMUST00000028855
AA Change: D203G

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
SMART Domains Protein: ENSMUSP00000028855
Gene: ENSMUSG00000027376
AA Change: D203G

DomainStartEndE-ValueType
signal peptide 1 21 N/A INTRINSIC
Pfam:Prominin 25 808 3.6e-279 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000103214
AA Change: D203G

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
SMART Domains Protein: ENSMUSP00000099503
Gene: ENSMUSG00000027376
AA Change: D203G

DomainStartEndE-ValueType
Pfam:Prominin 18 818 3e-288 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000140156
Predicted Effect noncoding transcript
Transcript: ENSMUST00000155581
Coding Region Coverage
  • 1x: 97.3%
  • 3x: 96.7%
  • 10x: 95.1%
  • 20x: 92.1%
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: 112 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrg2 G A X: 159,265,347 (GRCm39) M532I probably benign Het
Agtpbp1 A G 13: 59,598,016 (GRCm39) Y1198H possibly damaging Het
Ahcyl2 G A 6: 29,908,354 (GRCm39) V575M probably damaging Het
Akp3 TCACCACCACCACCACCACCACCACCACCAC TCACCACCACCACCACCACCACCACCAC 1: 87,055,489 (GRCm39) probably benign Het
Ankrd50 A T 3: 38,508,610 (GRCm39) N329K probably benign Het
Ano4 C A 10: 88,807,253 (GRCm39) G741V probably damaging Het
Anxa1 T C 19: 20,357,053 (GRCm39) D191G probably benign Het
Apc2 C T 10: 80,149,482 (GRCm39) T1512I probably damaging Het
Aph1b A T 9: 66,701,395 (GRCm39) C81S probably benign Het
Arhgap21 T C 2: 20,866,015 (GRCm39) E893G probably damaging Het
Arhgef28 A T 13: 98,130,640 (GRCm39) H399Q probably benign Het
Asic5 A G 3: 81,919,294 (GRCm39) E304G probably benign Het
B4galnt4 A G 7: 140,650,446 (GRCm39) Y771C probably damaging Het
Birc2 G T 9: 7,819,518 (GRCm39) Q465K probably benign Het
Btla C T 16: 45,070,737 (GRCm39) T232I probably damaging Het
Ccl7 G T 11: 81,937,378 (GRCm39) K37N probably benign Het
Cdk17 T C 10: 93,061,967 (GRCm39) V233A probably damaging Het
Cenatac A G 9: 44,329,018 (GRCm39) C66R probably damaging Het
Cilp2 C A 8: 70,333,973 (GRCm39) Q1008H probably damaging Het
Clcn1 T A 6: 42,282,475 (GRCm39) D442E probably damaging Het
Clcnka T C 4: 141,120,113 (GRCm39) T269A probably damaging Het
Col12a1 A T 9: 79,534,385 (GRCm39) probably null Het
Cts6 A G 13: 61,349,393 (GRCm39) I105T probably benign Het
Cyp3a25 T C 5: 145,931,739 (GRCm39) D123G probably damaging Het
D630003M21Rik A T 2: 158,045,105 (GRCm39) L808Q probably damaging Het
Ddrgk1 A T 2: 130,496,215 (GRCm39) I270N probably damaging Het
Dhx15 T C 5: 52,342,043 (GRCm39) T92A possibly damaging Het
Dhx32 A T 7: 133,339,025 (GRCm39) C197S probably benign Het
Diaph2 G A X: 128,860,876 (GRCm39) R473Q probably damaging Het
Dnd1 A G 18: 36,899,057 (GRCm39) C11R possibly damaging Het
Dock1 A C 7: 134,748,236 (GRCm39) D1566A probably benign Het
Drp2 A G X: 133,327,864 (GRCm39) I43V probably benign Het
Ecm2 T C 13: 49,683,621 (GRCm39) V533A probably benign Het
Ecpas T A 4: 58,849,942 (GRCm39) H427L possibly damaging Het
Emilin1 A G 5: 31,075,934 (GRCm39) E725G probably damaging Het
Eml2 A G 7: 18,935,803 (GRCm39) Y487C probably damaging Het
Epg5 T A 18: 78,018,246 (GRCm39) L919H probably damaging Het
Fam187a T A 11: 102,776,837 (GRCm39) S214T probably damaging Het
Flna T C X: 73,283,869 (GRCm39) T521A probably benign Het
Foxi1 T A 11: 34,157,531 (GRCm39) I165F probably damaging Het
Fxr2 A T 11: 69,543,103 (GRCm39) K633N probably benign Het
Gdpd5 T C 7: 99,098,206 (GRCm39) I209T probably benign Het
Gmpr G T 13: 45,696,101 (GRCm39) V278F probably damaging Het
Grm7 A T 6: 111,057,384 (GRCm39) D328V probably benign Het
Heatr6 T C 11: 83,660,056 (GRCm39) S534P probably damaging Het
Heph A G X: 95,573,092 (GRCm39) T792A probably damaging Het
Hipk2 T A 6: 38,695,870 (GRCm39) probably null Het
Hps3 T A 3: 20,074,123 (GRCm39) probably null Het
Hspa5 T C 2: 34,664,553 (GRCm39) F336L probably damaging Het
Insc T C 7: 114,441,413 (GRCm39) I409T probably benign Het
Kcnj8 T A 6: 142,515,966 (GRCm39) H47L probably damaging Het
Kcnma1 T A 14: 23,853,230 (GRCm39) Q108L probably damaging Het
Klc3 A G 7: 19,131,966 (GRCm39) V137A probably damaging Het
Lcn2 T C 2: 32,275,434 (GRCm39) T194A possibly damaging Het
Lgr4 T A 2: 109,841,742 (GRCm39) F576I possibly damaging Het
Lypd6b A G 2: 49,837,459 (GRCm39) I144V possibly damaging Het
Mctp1 G A 13: 76,533,267 (GRCm39) C205Y possibly damaging Het
Mitf A T 6: 97,987,383 (GRCm39) N159I probably damaging Het
Morc1 T C 16: 48,412,893 (GRCm39) I678T probably benign Het
Muc4 A G 16: 32,576,625 (GRCm39) probably benign Het
Myo7a T C 7: 97,701,463 (GRCm39) Y2115C probably damaging Het
Myof T C 19: 37,975,153 (GRCm39) I182V probably benign Het
Ncor1 A G 11: 62,272,245 (GRCm39) V635A probably damaging Het
Neb G T 2: 52,102,772 (GRCm39) Y4257* probably null Het
Npr2 T A 4: 43,641,258 (GRCm39) V428E probably benign Het
Nufip2 A G 11: 77,583,124 (GRCm39) D346G probably damaging Het
Obsl1 G A 1: 75,469,753 (GRCm39) S1088F probably benign Het
Or10s1 T G 9: 39,986,081 (GRCm39) I163M possibly damaging Het
Or2ag1 T C 7: 106,313,030 (GRCm39) N286S possibly damaging Het
Or4c127 T A 2: 89,832,825 (GRCm39) V25E probably benign Het
Or4k38 C T 2: 111,166,052 (GRCm39) V124M possibly damaging Het
Or5ac22 A G 16: 59,135,378 (GRCm39) Y131H probably damaging Het
Or8b9 T A 9: 37,766,560 (GRCm39) Y149N probably damaging Het
Pdgfrb G A 18: 61,204,789 (GRCm39) V550I probably benign Het
Pi4ka A T 16: 17,185,389 (GRCm39) L237* probably null Het
Pla2r1 G A 2: 60,259,055 (GRCm39) T1111M probably benign Het
Plxnd1 A T 6: 115,946,402 (GRCm39) probably null Het
Pnp G C 14: 51,185,430 (GRCm39) A67P probably benign Het
Ppp1r3a A T 6: 14,718,404 (GRCm39) S837T probably damaging Het
Ppp2r5e C G 12: 75,516,341 (GRCm39) A239P probably damaging Het
Pum1 T C 4: 130,478,836 (GRCm39) V486A possibly damaging Het
Rnf115 A G 3: 96,635,153 (GRCm39) probably benign Het
Rsf1 ATGGCG ATGGCGACGGTGGCG 7: 97,229,111 (GRCm39) probably benign Het
Rusc2 C A 4: 43,421,719 (GRCm39) A713D possibly damaging Het
Ryr3 A T 2: 112,560,673 (GRCm39) H3009Q possibly damaging Het
Serpina1d C A 12: 103,734,256 (GRCm39) C16F probably benign Het
Serpinf2 G T 11: 75,328,309 (GRCm39) R80S possibly damaging Het
Sh2d4a C A 8: 68,781,967 (GRCm39) Q192K probably benign Het
Sh3d21 T A 4: 126,044,729 (GRCm39) probably null Het
Sh3rf2 T A 18: 42,187,046 (GRCm39) L55Q probably damaging Het
Shc4 T C 2: 125,481,287 (GRCm39) D255G probably damaging Het
Skint2 T A 4: 112,483,106 (GRCm39) H170Q probably benign Het
Slc29a4 A G 5: 142,703,509 (GRCm39) Y261C probably damaging Het
Slc35a5 A T 16: 44,964,071 (GRCm39) N102K possibly damaging Het
Slc38a3 A T 9: 107,533,152 (GRCm39) I307K probably damaging Het
Sv2b A T 7: 74,773,828 (GRCm39) S548T probably benign Het
Tgfbi T C 13: 56,780,694 (GRCm39) S524P probably benign Het
Tgm5 T C 2: 120,905,699 (GRCm39) D152G probably damaging Het
Tmem213 A G 6: 38,086,487 (GRCm39) T48A possibly damaging Het
Tmem37 A G 1: 119,995,952 (GRCm39) S42P probably damaging Het
Trpm1 A G 7: 63,917,764 (GRCm39) K1258R probably damaging Het
Ttc22 T C 4: 106,494,003 (GRCm39) V321A probably benign Het
Ube2c C A 2: 164,611,943 (GRCm39) A15E probably benign Het
Ubn2 T A 6: 38,417,425 (GRCm39) D154E possibly damaging Het
Umod A T 7: 119,062,478 (GRCm39) L631M probably damaging Het
Ush1c G A 7: 45,868,816 (GRCm39) Q373* probably null Het
Vmn1r238 T A 18: 3,123,040 (GRCm39) R125* probably null Het
Wnt8b T C 19: 44,482,029 (GRCm39) L14P probably benign Het
Wrn G A 8: 33,778,892 (GRCm39) A563V probably damaging Het
Zfp268 A T 4: 145,348,998 (GRCm39) Q145L possibly damaging Het
Zfp608 A G 18: 55,030,983 (GRCm39) S986P probably benign Het
Znrf3 T C 11: 5,233,373 (GRCm39) H228R possibly damaging 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
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
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'- AGAACTGCTCAGCAATGGCC -3'
(R):5'- TTCTGTGAGAGGCTCCCTAG -3'

Sequencing Primer
(F):5'- AATGGCCCGCAGCTCCTAAG -3'
(R):5'- TGTGAGAGGCTCCCTAGGTCAG -3'
Posted On 2014-06-30