Incidental Mutation 'R4358:L3hypdh'
ID 324671
Institutional Source Beutler Lab
Gene Symbol L3hypdh
Ensembl Gene ENSMUSG00000019718
Gene Name L-3-hydroxyproline dehydratase (trans-)
Synonyms 2810055F11Rik
MMRRC Submission 041110-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.060) question?
Stock # R4358 (G1)
Quality Score 225
Status Validated
Chromosome 12
Chromosomal Location 72120202-72132213 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 72124198 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glutamic Acid at position 247 (D247E)
Ref Sequence ENSEMBL: ENSMUSP00000019862 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000019862]
AlphaFold Q9CXA2
Predicted Effect probably damaging
Transcript: ENSMUST00000019862
AA Change: D247E

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000019862
Gene: ENSMUSG00000019718
AA Change: D247E

DomainStartEndE-ValueType
Pfam:Pro_racemase 22 352 8.7e-122 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000124405
Predicted Effect noncoding transcript
Transcript: ENSMUST00000138029
Meta Mutation Damage Score 0.3707 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.5%
  • 20x: 95.8%
Validation Efficiency 98% (48/49)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a dehydratase that converts trans-3-hydroxy-L-proline to delta(1)-pyrroline-2-carboxylate. This enzyme may function to degrade dietary proteins that contain trans-3-hydroxy-L-proline as well as other proteins such as collagen IV. The encoded protein can be converted to an epimerase by changing a threonine to a cysteine at a catalytic site. [provided by RefSeq, Sep 2016]
Allele List at MGI
Other mutations in this stock
Total: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Alpk1 C T 3: 127,523,022 (GRCm39) V7M probably damaging Het
Birc6 T A 17: 74,926,663 (GRCm39) probably null Het
Chil3 G A 3: 106,067,815 (GRCm39) Q117* probably null Het
Daglb T C 5: 143,458,889 (GRCm39) probably benign Het
Dnah11 G A 12: 118,089,578 (GRCm39) R1163* probably null Het
Ftsj3 G A 11: 106,144,502 (GRCm39) A134V probably benign Het
G530012D18Rik G C 1: 85,504,923 (GRCm39) probably benign Het
Gfod2 T C 8: 106,444,177 (GRCm39) N122S possibly damaging Het
Golga4 A G 9: 118,380,946 (GRCm39) E507G probably benign Het
Ids C A X: 69,389,950 (GRCm39) G506C probably damaging Het
Ifna15 G T 4: 88,476,079 (GRCm39) T135N probably benign Het
Igsf9b G A 9: 27,220,774 (GRCm39) V47I possibly damaging Het
Kif24 A G 4: 41,413,827 (GRCm39) probably null Het
Lama2 A T 10: 26,860,489 (GRCm39) N2999K probably damaging Het
Lpcat2 C A 8: 93,599,734 (GRCm39) P234Q probably benign Het
Lrp10 C T 14: 54,705,823 (GRCm39) R338C probably damaging Het
Mcm9 A C 10: 53,413,749 (GRCm39) C444G probably benign Het
Mecom G A 3: 30,033,934 (GRCm39) Q246* probably null Het
Mib1 A G 18: 10,751,844 (GRCm39) N242S probably benign Het
Or2a7 T A 6: 43,151,160 (GRCm39) M80K probably damaging Het
Or8g26 G A 9: 39,095,864 (GRCm39) C127Y probably damaging Het
P3h4 A G 11: 100,304,452 (GRCm39) F263S probably damaging Het
Pcsk1 T C 13: 75,260,838 (GRCm39) S354P possibly damaging Het
Pms2 T A 5: 143,862,744 (GRCm39) F617Y probably damaging Het
Prps2 T A X: 166,146,545 (GRCm39) K176* probably null Het
Psmd13 G T 7: 140,469,418 (GRCm39) probably benign Het
Pygl G A 12: 70,242,464 (GRCm39) S573L probably damaging Het
Rapgef3 A G 15: 97,646,529 (GRCm39) V794A probably benign Het
Rasgrf2 C A 13: 92,038,796 (GRCm39) D1017Y probably damaging Het
Rb1cc1 A G 1: 6,315,861 (GRCm39) D555G probably damaging Het
Rptor G T 11: 119,562,171 (GRCm39) E111D probably damaging Het
Sall4 T C 2: 168,597,400 (GRCm39) E480G probably benign Het
Scn4a G A 11: 106,239,683 (GRCm39) probably null Het
Scn8a G A 15: 100,838,014 (GRCm39) A94T probably benign Het
Slc26a6 T A 9: 108,738,982 (GRCm39) C636S probably benign Het
Slc38a11 T C 2: 65,188,460 (GRCm39) K103R probably benign Het
Sned1 T C 1: 93,202,381 (GRCm39) L675P probably benign Het
Spsb1 T C 4: 149,991,232 (GRCm39) H112R probably damaging Het
Tmem132d G A 5: 128,061,405 (GRCm39) T399M possibly damaging Het
Zfp939 A G 7: 39,123,144 (GRCm39) noncoding transcript Het
Zfp951 T C 5: 104,962,541 (GRCm39) K342E probably damaging Het
Other mutations in L3hypdh
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02152:L3hypdh APN 12 72,123,917 (GRCm39) critical splice donor site probably null
IGL02718:L3hypdh APN 12 72,131,630 (GRCm39) missense probably damaging 1.00
R0128:L3hypdh UTSW 12 72,123,917 (GRCm39) critical splice donor site probably null
R1109:L3hypdh UTSW 12 72,120,770 (GRCm39) missense possibly damaging 0.93
R1689:L3hypdh UTSW 12 72,131,527 (GRCm39) missense probably damaging 1.00
R2080:L3hypdh UTSW 12 72,126,301 (GRCm39) missense probably damaging 0.96
R2274:L3hypdh UTSW 12 72,131,632 (GRCm39) missense possibly damaging 0.95
R4003:L3hypdh UTSW 12 72,131,890 (GRCm39) missense probably benign 0.00
R4760:L3hypdh UTSW 12 72,124,016 (GRCm39) missense probably benign 0.05
R4825:L3hypdh UTSW 12 72,124,167 (GRCm39) missense probably benign 0.00
R5926:L3hypdh UTSW 12 72,123,959 (GRCm39) missense probably damaging 1.00
R7223:L3hypdh UTSW 12 72,120,783 (GRCm39) missense possibly damaging 0.71
R7426:L3hypdh UTSW 12 72,131,705 (GRCm39) missense probably damaging 1.00
R8026:L3hypdh UTSW 12 72,131,723 (GRCm39) missense probably damaging 1.00
R9429:L3hypdh UTSW 12 72,124,203 (GRCm39) missense probably damaging 1.00
X0028:L3hypdh UTSW 12 72,126,268 (GRCm39) missense probably benign 0.01
Predicted Primers PCR Primer
(F):5'- GAGCAATTCTGGCTGTCACTCC -3'
(R):5'- TATCGAGCAGTTACTTGCAAAC -3'

Sequencing Primer
(F):5'- TGGCTGTCACTCCCGAGC -3'
(R):5'- CGAGCAGTTACTTGCAAACTTATTC -3'
Posted On 2015-06-24