Incidental Mutation 'R2253:Mbtps2'
ID 241842
Institutional Source Beutler Lab
Gene Symbol Mbtps2
Ensembl Gene ENSMUSG00000046873
Gene Name membrane-bound transcription factor peptidase, site 2
Synonyms 9630032G22Rik
MMRRC Submission 040253-MU
Accession Numbers
Essential gene? Not available question?
Stock # R2253 (G1)
Quality Score 222
Status Not validated
Chromosome X
Chromosomal Location 156330818-156381711 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 156342029 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Leucine at position 270 (F270L)
Ref Sequence ENSEMBL: ENSMUSP00000059471 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000058098]
AlphaFold Q3TTC2
Q8CHX6
Predicted Effect probably benign
Transcript: ENSMUST00000058098
AA Change: F270L

PolyPhen 2 Score 0.028 (Sensitivity: 0.95; Specificity: 0.81)
SMART Domains Protein: ENSMUSP00000059471
Gene: ENSMUSG00000046873
AA Change: F270L

DomainStartEndE-ValueType
transmembrane domain 5 24 N/A INTRINSIC
transmembrane domain 72 94 N/A INTRINSIC
low complexity region 109 132 N/A INTRINSIC
Pfam:Peptidase_M50 155 514 4.3e-46 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000065857
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.5%
  • 10x: 97.2%
  • 20x: 94.9%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a intramembrane zinc metalloprotease, which is essential in development. This protease functions in the signal protein activation involved in sterol control of transcription and the ER stress response. Mutations in this gene have been associated with ichthyosis follicularis with atrichia and photophobia (IFAP syndrome); IFAP syndrome has been quantitatively linked to a reduction in cholesterol homeostasis and ER stress response.[provided by RefSeq, Aug 2009]
Allele List at MGI
Other mutations in this stock
Total: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700129C05Rik G A 14: 59,380,061 (GRCm39) S79F probably damaging Het
Acss3 G A 10: 106,840,609 (GRCm39) A384V probably damaging Het
Aff2 G A X: 68,878,409 (GRCm39) E732K possibly damaging Het
Atp12a A G 14: 56,613,715 (GRCm39) T496A probably benign Het
B3gnt3 A T 8: 72,145,462 (GRCm39) M302K probably damaging Het
Bptf G T 11: 107,002,148 (GRCm39) D321E probably damaging Het
C1ql3 C T 2: 13,015,130 (GRCm39) V177I possibly damaging Het
C2cd5 A T 6: 142,982,042 (GRCm39) Y607* probably null Het
Casp3 G T 8: 47,090,990 (GRCm39) W214L probably damaging Het
Cd248 A G 19: 5,118,154 (GRCm39) M1V probably null Het
Cdh18 A G 15: 23,410,891 (GRCm39) T405A probably benign Het
Cldn24 G T 8: 48,275,363 (GRCm39) R62S probably benign Het
Cnot1 A G 8: 96,489,814 (GRCm39) V463A probably benign Het
Cul2 A T 18: 3,399,876 (GRCm39) L3F probably damaging Het
Ep400 A T 5: 110,866,957 (GRCm39) N1062K unknown Het
Gch1 T C 14: 47,426,798 (GRCm39) probably benign Het
Gzf1 T C 2: 148,525,856 (GRCm39) M109T probably damaging Het
Itch T A 2: 155,054,259 (GRCm39) M701K probably benign Het
Kank4 A T 4: 98,667,463 (GRCm39) I328N probably damaging Het
Krt9 A T 11: 100,081,685 (GRCm39) N281K possibly damaging Het
Lgals12 T A 19: 7,584,130 (GRCm39) probably benign Het
Lrrc37a T C 11: 103,392,293 (GRCm39) Q1044R probably benign Het
Nr3c1 G T 18: 39,619,804 (GRCm39) T161K probably benign Het
Or2w3b T C 11: 58,623,821 (GRCm39) T57A probably benign Het
Or4g16 A G 2: 111,136,655 (GRCm39) Y35C probably damaging Het
Or5ak20 A G 2: 85,184,202 (GRCm39) S23P possibly damaging Het
Or5b116 T C 19: 13,422,549 (GRCm39) Y58H probably damaging Het
Pla2g4d T C 2: 120,101,622 (GRCm39) K453E probably damaging Het
Plcb2 T C 2: 118,554,246 (GRCm39) N69S probably benign Het
Prl3d1 T C 13: 27,278,981 (GRCm39) Y59H possibly damaging Het
Rnf133 T C 6: 23,649,174 (GRCm39) M252V probably benign Het
Rnf181 G T 6: 72,338,467 (GRCm39) H14N possibly damaging Het
Sash1 A T 10: 8,605,741 (GRCm39) M883K probably benign Het
Secisbp2l C T 2: 125,582,657 (GRCm39) G933D possibly damaging Het
Slc13a4 A G 6: 35,257,418 (GRCm39) V240A probably benign Het
Slc2a5 T C 4: 150,224,447 (GRCm39) Y315H possibly damaging Het
Slc7a2 T C 8: 41,358,658 (GRCm39) Y334H probably benign Het
Spib A G 7: 44,179,392 (GRCm39) S23P probably benign Het
Tbc1d1 A G 5: 64,442,143 (GRCm39) N721S probably benign Het
Tcf25 A G 8: 124,100,772 (GRCm39) E54G probably benign Het
Tesl2 G A X: 23,824,950 (GRCm39) A75V probably benign Het
Tns2 C T 15: 102,017,369 (GRCm39) R281C probably damaging Het
Uba7 A G 9: 107,853,563 (GRCm39) H131R probably benign Het
Vmn2r6 C T 3: 64,467,139 (GRCm39) C120Y probably damaging Het
Zdhhc18 A T 4: 133,360,388 (GRCm39) probably null Het
Zfp970 T A 2: 177,166,614 (GRCm39) probably null Het
Other mutations in Mbtps2
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0389:Mbtps2 UTSW X 156,351,364 (GRCm39) missense probably benign 0.01
R2251:Mbtps2 UTSW X 156,342,029 (GRCm39) missense probably benign 0.03
R5365:Mbtps2 UTSW X 156,351,295 (GRCm39) missense possibly damaging 0.94
Predicted Primers PCR Primer
(F):5'- GGGACTAGTACTTGAAGCATTGTG -3'
(R):5'- CTGCTTTGAAGAAAACTCTAAGCTG -3'

Sequencing Primer
(F):5'- GTGTCATATCAAGTAAATGCACACAC -3'
(R):5'- ACTCTAAGCTGAATGAAAAGGAATG -3'
Posted On 2014-10-16