Incidental Mutation 'R5926:L3hypdh'
ID 459908
Institutional Source Beutler Lab
Gene Symbol L3hypdh
Ensembl Gene ENSMUSG00000019718
Gene Name L-3-hydroxyproline dehydratase (trans-)
Synonyms 2810055F11Rik
MMRRC Submission 044121-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.059) question?
Stock # R5926 (G1)
Quality Score 225
Status Not validated
Chromosome 12
Chromosomal Location 72120202-72132213 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 72123959 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Cysteine at position 300 (S300C)
Ref Sequence ENSEMBL: ENSMUSP00000019862 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000019862]
AlphaFold Q9CXA2
Predicted Effect probably damaging
Transcript: ENSMUST00000019862
AA Change: S300C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000019862
Gene: ENSMUSG00000019718
AA Change: S300C

DomainStartEndE-ValueType
Pfam:Pro_racemase 22 352 8.7e-122 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000124405
Predicted Effect noncoding transcript
Transcript: ENSMUST00000138029
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.5%
  • 10x: 97.7%
  • 20x: 93.0%
Validation Efficiency
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: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A2ml1 T A 6: 128,537,608 (GRCm39) Y701F probably benign Het
Abra T A 15: 41,729,650 (GRCm39) H250L probably damaging Het
Acer2 T C 4: 86,792,805 (GRCm39) V27A probably benign Het
Arhgef15 A G 11: 68,842,781 (GRCm39) L343S possibly damaging Het
Arnt2 G T 7: 83,993,154 (GRCm39) H129N probably damaging Het
Atp9a T A 2: 168,548,191 (GRCm39) Y63F probably damaging Het
Brca2 A G 5: 150,458,087 (GRCm39) T213A probably benign Het
Cdk5r1 T C 11: 80,369,128 (GRCm39) probably null Het
Cyb5r4 C T 9: 86,939,314 (GRCm39) L366F probably benign Het
Cyp20a1 T A 1: 60,402,401 (GRCm39) I162K possibly damaging Het
Dcaf1 T C 9: 106,715,561 (GRCm39) V226A probably benign Het
Ddx41 A T 13: 55,682,112 (GRCm39) M232K probably damaging Het
Dnm1 C T 2: 32,205,816 (GRCm39) V99I probably benign Het
Doc2a T C 7: 126,448,697 (GRCm39) V134A probably damaging Het
Ghdc C T 11: 100,659,063 (GRCm39) V380M possibly damaging Het
Gldn A G 9: 54,245,722 (GRCm39) I424M possibly damaging Het
Haus6 A T 4: 86,517,553 (GRCm39) H270Q probably benign Het
Hfe A T 13: 23,892,247 (GRCm39) M39K probably damaging Het
Jakmip1 C T 5: 37,242,624 (GRCm39) probably benign Het
Kcnb2 A G 1: 15,383,235 (GRCm39) N187S probably benign Het
Kcnd2 A G 6: 21,217,084 (GRCm39) S263G probably damaging Het
Kcnh1 A G 1: 192,095,385 (GRCm39) N481S probably benign Het
Kcnn2 A G 18: 45,818,351 (GRCm39) I343V probably benign Het
Lrit1 T A 14: 36,776,966 (GRCm39) C29S probably damaging Het
Mark3 T A 12: 111,559,168 (GRCm39) V70E probably damaging Het
Med16 C T 10: 79,738,362 (GRCm39) V319M probably damaging Het
Mindy3 T C 2: 12,352,911 (GRCm39) Y430C probably damaging Het
Mup5 A T 4: 61,751,286 (GRCm39) F121I probably benign Het
Myt1l G A 12: 29,882,331 (GRCm39) G509R unknown Het
Notch1 A G 2: 26,366,116 (GRCm39) Y813H probably benign Het
Or10a3m T C 7: 108,312,794 (GRCm39) L66S probably damaging Het
Or5p53 T C 7: 107,533,110 (GRCm39) S128P probably damaging Het
Or6b2b A T 1: 92,419,288 (GRCm39) L63Q probably damaging Het
Pi4kb A G 3: 94,906,307 (GRCm39) Y301C probably damaging Het
Ptch1 A G 13: 63,692,869 (GRCm39) S244P probably benign Het
Ptprn G A 1: 75,231,242 (GRCm39) T554I probably damaging Het
Ptprt T C 2: 161,406,606 (GRCm39) I969V probably benign Het
Raf1 T C 6: 115,596,859 (GRCm39) M519V probably benign Het
Ryr1 A G 7: 28,803,785 (GRCm39) V622A probably damaging Het
Spaca4 G T 7: 45,374,719 (GRCm39) H94Q probably benign Het
Spata31 A G 13: 65,068,539 (GRCm39) D229G possibly damaging Het
Tbx6 G A 7: 126,384,025 (GRCm39) A359T possibly damaging Het
Trpm8 T A 1: 88,258,469 (GRCm39) Y251N probably damaging Het
Vps16 T A 2: 130,285,476 (GRCm39) N806K probably damaging Het
Vwf T C 6: 125,581,137 (GRCm39) F592L 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
R4358:L3hypdh UTSW 12 72,124,198 (GRCm39) missense probably damaging 1.00
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
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'- TTGAACACAAGCTTTTACAGGCC -3'
(R):5'- TATAGTGAGGAGGCCACCAC -3'

Sequencing Primer
(F):5'- ACAAGCTTTTACAGGCCTGCTTTC -3'
(R):5'- ACAGGTATCAAGACTGTGTCTG -3'
Posted On 2017-02-28