Incidental Mutation 'R4730:Phb2'
Institutional Source Beutler Lab
Gene Symbol Phb2
Ensembl Gene ENSMUSG00000004264
Gene Nameprohibitin 2
SynonymsBcap37, Bap37, repressor of estrogen receptor activity, REA
MMRRC Submission 041990-MU
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #R4730 (G1)
Quality Score225
Status Validated
Chromosomal Location124712336-124716950 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 124713123 bp
Amino Acid Change Serine to Proline at position 92 (S92P)
Ref Sequence ENSEMBL: ENSMUSP00000004375 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000004375] [ENSMUST00000004379] [ENSMUST00000147974] [ENSMUST00000203238]
Predicted Effect probably damaging
Transcript: ENSMUST00000004375
AA Change: S92P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000004375
Gene: ENSMUSG00000004264
AA Change: S92P

low complexity region 18 33 N/A INTRINSIC
PHB 39 201 1.01e-46 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000004379
SMART Domains Protein: ENSMUSP00000004379
Gene: ENSMUSG00000004268

Pfam:EMG1 45 238 2.9e-87 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000083540
Predicted Effect noncoding transcript
Transcript: ENSMUST00000124779
Predicted Effect noncoding transcript
Transcript: ENSMUST00000129422
Predicted Effect unknown
Transcript: ENSMUST00000130279
AA Change: S1P
SMART Domains Protein: ENSMUSP00000121535
Gene: ENSMUSG00000004264
AA Change: S1P

Blast:PHB 2 82 5e-45 BLAST
Predicted Effect noncoding transcript
Transcript: ENSMUST00000141251
Predicted Effect noncoding transcript
Transcript: ENSMUST00000142187
Predicted Effect noncoding transcript
Transcript: ENSMUST00000143000
Predicted Effect noncoding transcript
Transcript: ENSMUST00000143765
Predicted Effect noncoding transcript
Transcript: ENSMUST00000145447
Predicted Effect probably damaging
Transcript: ENSMUST00000147974
AA Change: S29P

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000119316
Gene: ENSMUSG00000004264
AA Change: S29P

PHB 1 103 3.22e-2 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000150847
Predicted Effect noncoding transcript
Transcript: ENSMUST00000158210
Predicted Effect noncoding transcript
Transcript: ENSMUST00000189387
Predicted Effect probably benign
Transcript: ENSMUST00000203238
SMART Domains Protein: ENSMUSP00000144730
Gene: ENSMUSG00000004268

Pfam:EMG1 55 122 1e-33 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000204334
Meta Mutation Damage Score 0.7151 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.1%
  • 20x: 94.8%
Validation Efficiency 99% (70/71)
MGI Phenotype PHENOTYPE: Homozygous mutant embryos die before E9. Heterozygous females exhibit a greater gain in body weight from 9-26 weeks of age and reduced litter sizes. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 62 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aff1 A G 5: 103,843,073 Q963R possibly damaging Het
Arhgef28 C T 13: 97,978,142 E645K probably benign Het
Bbs10 A G 10: 111,301,134 K703E probably benign Het
Col4a2 A G 8: 11,437,590 N964S probably benign Het
Dab1 C T 4: 104,731,751 A524V probably benign Het
Duox1 T G 2: 122,333,831 L924R probably damaging Het
Edem2 T C 2: 155,705,698 E398G possibly damaging Het
Engase A G 11: 118,482,922 N297D probably damaging Het
Esp4 A C 17: 40,602,554 Y104S unknown Het
Esp4 C A 17: 40,602,555 Y104* probably null Het
Fat1 A T 8: 45,033,477 N3356I probably damaging Het
Gm3867 T A 9: 36,257,254 noncoding transcript Het
Gm6818 C T 7: 38,402,494 noncoding transcript Het
Grip2 T C 6: 91,785,712 *175W probably null Het
Gucy1b2 A G 14: 62,407,759 V617A probably damaging Het
Gzmc C T 14: 56,231,632 C210Y probably damaging Het
Hmg20a T A 9: 56,467,419 S20T possibly damaging Het
Hs3st1 A T 5: 39,614,805 L165* probably null Het
Ighv1-26 A G 12: 114,788,789 I6T probably benign Het
Kcnk13 A G 12: 100,061,715 K350E probably damaging Het
Lin9 T A 1: 180,665,851 L198* probably null Het
Lrfn5 C T 12: 61,840,719 A431V probably benign Het
Lta C T 17: 35,204,089 R86Q probably benign Het
Map3k4 T A 17: 12,248,974 I1058L probably damaging Het
Mtif2 T A 11: 29,540,834 S513T probably benign Het
Muc4 C T 16: 32,751,214 T364I possibly damaging Het
Nav1 C A 1: 135,607,311 probably benign Het
Nfrkb T C 9: 31,410,251 V748A probably benign Het
Obox6 A T 7: 15,834,813 M46K possibly damaging Het
Olfr1002 T C 2: 85,647,992 T110A probably benign Het
Olfr1013 G T 2: 85,770,061 E87* probably null Het
Olfr1102 C T 2: 87,002,166 R66W possibly damaging Het
Olfr172 T C 16: 58,760,742 I145V probably benign Het
Olfr820 G A 10: 130,017,547 R62Q probably damaging Het
P4htm A G 9: 108,579,772 V412A possibly damaging Het
Phtf1 G T 3: 103,987,435 R147L probably damaging Het
Pigk C T 3: 152,742,566 Q189* probably null Het
Plxnc1 G A 10: 94,867,468 probably benign Het
Prrx1 A G 1: 163,312,613 V8A probably benign Het
Ptprg G A 14: 12,213,713 G252D probably damaging Het
Rnf4 G T 5: 34,350,803 V134F possibly damaging Het
Scarf2 A G 16: 17,803,013 T182A probably damaging Het
Setd1a A G 7: 127,797,330 probably benign Het
Sgpp1 A G 12: 75,734,939 F209L probably benign Het
Sh3d19 T A 3: 86,116,864 S567T possibly damaging Het
Slc4a2 C T 5: 24,434,880 R520W probably damaging Het
Slf1 T C 13: 77,046,632 Q858R probably damaging Het
Slitrk3 G T 3: 73,049,519 A640E probably benign Het
Smarca2 A G 19: 26,630,673 Y44C probably damaging Het
Spon1 A G 7: 114,033,071 E543G possibly damaging Het
Strn4 A G 7: 16,828,794 Q286R possibly damaging Het
Suz12 T C 11: 80,002,162 probably benign Het
Syna T A 5: 134,558,586 E503V probably damaging Het
Syt14 C T 1: 192,930,786 D569N probably damaging Het
Sytl2 A G 7: 90,381,249 probably benign Het
Tmprss11g G T 5: 86,489,232 S335* probably null Het
Tmprss11g A T 5: 86,489,233 S335T probably damaging Het
Trim66 A G 7: 109,483,069 S226P probably damaging Het
Tubgcp3 T C 8: 12,657,654 T112A probably benign Het
Ulk4 T C 9: 121,263,725 S149G probably benign Het
Usp53 T C 3: 122,962,933 D108G probably null Het
Vmn1r91 A T 7: 20,101,770 T205S possibly damaging Het
Other mutations in Phb2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01707:Phb2 APN 6 124714035 missense probably benign
R3872:Phb2 UTSW 6 124716431 critical splice donor site probably null
R4686:Phb2 UTSW 6 124713142 critical splice donor site probably null
R5503:Phb2 UTSW 6 124713022 unclassified probably benign
R5930:Phb2 UTSW 6 124715649 missense probably damaging 1.00
R6428:Phb2 UTSW 6 124715991 missense probably benign 0.00
R7780:Phb2 UTSW 6 124716032 critical splice donor site probably null
Predicted Primers PCR Primer

Sequencing Primer
Posted On2015-11-11