Incidental Mutation 'R4694:Pgrmc2'
ID 355541
Institutional Source Beutler Lab
Gene Symbol Pgrmc2
Ensembl Gene ENSMUSG00000049940
Gene Name progesterone receptor membrane component 2
Synonyms 5730409G06Rik, 4631434O19Rik, DG6
MMRRC Submission 041945-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.790) question?
Stock # R4694 (G1)
Quality Score 225
Status Not validated
Chromosome 3
Chromosomal Location 41020772-41037443 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 41024840 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 144 (D144G)
Ref Sequence ENSEMBL: ENSMUSP00000056643 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000058578]
AlphaFold Q80UU9
Predicted Effect probably damaging
Transcript: ENSMUST00000058578
AA Change: D144G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000056643
Gene: ENSMUSG00000049940
AA Change: D144G

DomainStartEndE-ValueType
low complexity region 14 36 N/A INTRINSIC
transmembrane domain 40 62 N/A INTRINSIC
Cyt-b5 97 195 2.62e-23 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000124636
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.5%
  • 10x: 96.9%
  • 20x: 94.3%
Validation Efficiency
MGI Phenotype PHENOTYPE: Mice homozygous for a conditional allele activated in the uterus exhibit early female reproductive senescence, decreased uterine NK cell number, increased endometrial gland number and uterine cysts. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 67 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcg5 A T 17: 84,979,586 (GRCm39) F258Y probably damaging Het
Adamtsl4 C T 3: 95,587,055 (GRCm39) R765H probably damaging Het
Bicd1 T A 6: 149,311,051 (GRCm39) L42Q probably damaging Het
Cacna1e C T 1: 154,313,012 (GRCm39) probably null Het
Capn1 T A 19: 6,044,761 (GRCm39) K504* probably null Het
Cdh15 G A 8: 123,588,763 (GRCm39) R279Q probably damaging Het
Cep350 T C 1: 155,804,332 (GRCm39) K917R probably damaging Het
Cp A T 3: 20,029,049 (GRCm39) T509S probably benign Het
Cyp2d10 T C 15: 82,288,684 (GRCm39) D266G probably damaging Het
Dhodh C G 8: 110,333,048 (GRCm39) R7P probably damaging Het
Dmxl2 A G 9: 54,354,189 (GRCm39) L419P probably benign Het
Epb41l4b A T 4: 57,019,875 (GRCm39) M84K probably benign Het
Fbln7 A G 2: 128,722,345 (GRCm39) probably null Het
Fbxw11 C T 11: 32,592,820 (GRCm39) probably benign Het
Flnc C A 6: 29,443,447 (GRCm39) P543T probably damaging Het
Grid1 T C 14: 34,748,737 (GRCm39) S186P probably damaging Het
Hcfc2 C T 10: 82,559,534 (GRCm39) T382M probably damaging Het
Hdac9 G T 12: 34,487,246 (GRCm39) L73I probably damaging Het
Hnrnpa2b1 A T 6: 51,441,163 (GRCm39) D302E probably damaging Het
Ifi204 C T 1: 173,576,825 (GRCm39) C592Y probably damaging Het
Jph1 T A 1: 17,067,729 (GRCm39) I653F probably damaging Het
Kcnj3 A G 2: 55,484,918 (GRCm39) K339E probably benign Het
Kcp G A 6: 29,493,196 (GRCm39) T838I probably benign Het
Krtap26-1 A T 16: 88,444,108 (GRCm39) V171E possibly damaging Het
Lck G T 4: 129,442,765 (GRCm39) N452K possibly damaging Het
Madd A G 2: 90,990,673 (GRCm39) L1134S probably damaging Het
Mafk T C 5: 139,786,248 (GRCm39) S149P probably damaging Het
Man1c1 T C 4: 134,430,500 (GRCm39) D94G probably benign Het
Me2 T A 18: 73,934,930 (GRCm39) M38L probably benign Het
Muc2 A C 7: 141,306,082 (GRCm39) D257A probably damaging Het
Myh11 T C 16: 14,018,566 (GRCm39) K1927E probably damaging Het
Naaladl1 C T 19: 6,158,920 (GRCm39) P324S probably damaging Het
Ndufa10 T C 1: 92,379,824 (GRCm39) E303G probably benign Het
Nedd1 C T 10: 92,555,444 (GRCm39) V14I probably benign Het
Nwd1 T G 8: 73,393,958 (GRCm39) V407G probably damaging Het
Or2h15 A C 17: 38,441,748 (GRCm39) C112G probably damaging Het
Or4b1d T A 2: 89,968,593 (GRCm39) K297* probably null Het
Or4k15c T C 14: 50,321,476 (GRCm39) I221V probably benign Het
Or5w13 T A 2: 87,524,104 (GRCm39) T41S probably benign Het
Or7g29 A G 9: 19,286,694 (GRCm39) L161P probably damaging Het
Ppp3cb T C 14: 20,551,583 (GRCm39) N516S probably benign Het
Pramel27 T C 4: 143,579,530 (GRCm39) S372P probably damaging Het
Prelp A G 1: 133,842,485 (GRCm39) M220T probably damaging Het
Prss36 A G 7: 127,534,787 (GRCm39) W465R probably damaging Het
Pth2r C A 1: 65,375,920 (GRCm39) F59L probably benign Het
Rab20 C T 8: 11,504,485 (GRCm39) G72R probably damaging Het
Rab4a G T 8: 124,555,769 (GRCm39) G49W probably damaging Het
Rad9a G A 19: 4,250,560 (GRCm39) R85C probably damaging Het
Rhox2c A C X: 36,635,351 (GRCm39) Q4H probably benign Het
Rock1 A T 18: 10,136,152 (GRCm39) Y178* probably null Het
Scaf8 C A 17: 3,247,679 (GRCm39) L1001I probably damaging Het
Sema3b G A 9: 107,482,201 (GRCm39) P26S probably benign Het
Slc23a1 A G 18: 35,752,633 (GRCm39) L548P probably damaging Het
Sncaip A C 18: 53,039,629 (GRCm39) T548P probably benign Het
Stpg2 C T 3: 139,023,177 (GRCm39) P398S possibly damaging Het
Stpg3 A C 2: 25,103,309 (GRCm39) V260G probably damaging Het
Tbc1d9 T A 8: 83,960,875 (GRCm39) F242I probably damaging Het
Tnks1bp1 G A 2: 84,902,066 (GRCm39) R992Q probably damaging Het
Tom1l1 T G 11: 90,537,675 (GRCm39) H394P possibly damaging Het
Topors T G 4: 40,261,442 (GRCm39) N614T possibly damaging Het
Trank1 A T 9: 111,221,129 (GRCm39) Q2622L probably benign Het
Trub2 A G 2: 29,668,858 (GRCm39) S186P probably damaging Het
Unc13c T A 9: 73,479,636 (GRCm39) H1756L probably benign Het
Vmn1r9 A T 6: 57,048,314 (GRCm39) I130F probably benign Het
Wdr72 A T 9: 74,086,837 (GRCm39) I602F probably damaging Het
Zfand3 T A 17: 30,354,362 (GRCm39) F60I possibly damaging Het
Zfp946 G A 17: 22,674,692 (GRCm39) G482E probably benign Het
Other mutations in Pgrmc2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02211:Pgrmc2 APN 3 41,037,068 (GRCm39) missense probably damaging 1.00
IGL03290:Pgrmc2 APN 3 41,023,061 (GRCm39) utr 3 prime probably benign
R1935:Pgrmc2 UTSW 3 41,037,473 (GRCm39) start gained probably benign
R1936:Pgrmc2 UTSW 3 41,037,473 (GRCm39) start gained probably benign
R7010:Pgrmc2 UTSW 3 41,037,068 (GRCm39) missense probably damaging 1.00
R7892:Pgrmc2 UTSW 3 41,037,415 (GRCm39) missense probably damaging 0.99
R8937:Pgrmc2 UTSW 3 41,037,125 (GRCm39) missense probably damaging 1.00
R9029:Pgrmc2 UTSW 3 41,037,105 (GRCm39) missense probably benign 0.04
R9135:Pgrmc2 UTSW 3 41,023,099 (GRCm39) missense probably damaging 1.00
Z1177:Pgrmc2 UTSW 3 41,024,813 (GRCm39) missense possibly damaging 0.88
Predicted Primers PCR Primer
(F):5'- CAGTAGCATAGAGTTTGGTTTTCC -3'
(R):5'- ACACATTGCAGGGTTTTCAGG -3'

Sequencing Primer
(F):5'- GGTTTTCCAAAGACTCCCCCAAATG -3'
(R):5'- CACATTGCAGGGTTTTCAGGGTATC -3'
Posted On 2015-10-21