Incidental Mutation 'R2274:L3hypdh'
ID244996
Institutional Source Beutler Lab
Gene Symbol L3hypdh
Ensembl Gene ENSMUSG00000019718
Gene NameL-3-hydroxyproline dehydratase (trans-)
Synonyms
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.064) question?
Stock #R2274 (G1)
Quality Score225
Status Not validated
Chromosome12
Chromosomal Location72073428-72085439 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 72084858 bp
ZygosityHeterozygous
Amino Acid Change Tyrosine to Cysteine at position 100 (Y100C)
Ref Sequence ENSEMBL: ENSMUSP00000019862 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000019862] [ENSMUST00000057257] [ENSMUST00000117449] [ENSMUST00000125764]
Predicted Effect possibly damaging
Transcript: ENSMUST00000019862
AA Change: Y100C

PolyPhen 2 Score 0.947 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000019862
Gene: ENSMUSG00000019718
AA Change: Y100C

DomainStartEndE-ValueType
Pfam:Pro_racemase 22 352 8.7e-122 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000057257
SMART Domains Protein: ENSMUSP00000061370
Gene: ENSMUSG00000005078

DomainStartEndE-ValueType
Pfam:DUF766 9 300 3.6e-118 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000117449
SMART Domains Protein: ENSMUSP00000113744
Gene: ENSMUSG00000005078

DomainStartEndE-ValueType
Pfam:DUF766 3 295 2.3e-145 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000124405
Predicted Effect probably benign
Transcript: ENSMUST00000125764
SMART Domains Protein: ENSMUSP00000117251
Gene: ENSMUSG00000005078

DomainStartEndE-ValueType
Pfam:DUF766 10 214 2.2e-106 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000132371
Predicted Effect noncoding transcript
Transcript: ENSMUST00000134041
Predicted Effect noncoding transcript
Transcript: ENSMUST00000138029
Predicted Effect noncoding transcript
Transcript: ENSMUST00000152381
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.7%
  • 10x: 97.4%
  • 20x: 95.4%
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: 70 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2300003K06Rik A T 11: 99,837,841 C59S possibly damaging Het
Abca5 A T 11: 110,275,281 N1556K possibly damaging Het
Abcb10 G T 8: 123,982,752 A21E probably benign Het
Ackr1 T C 1: 173,332,485 N156D probably benign Het
Adamtsl3 A T 7: 82,606,558 S1593C probably benign Het
Ank3 T A 10: 69,950,942 probably null Het
Aqp4 A G 18: 15,393,480 S315P probably benign Het
Atp7b T C 8: 22,020,832 I433V probably benign Het
Bco1 G A 8: 117,108,783 probably null Het
Cacna1g T A 11: 94,415,936 E1842V probably damaging Het
Calhm3 T A 19: 47,157,547 Q73L probably damaging Het
Car5a C T 8: 121,944,669 probably null Het
Cdk11b T A 4: 155,647,594 probably benign Het
Cdr2 A T 7: 120,958,509 H264Q possibly damaging Het
Col9a2 C G 4: 121,054,258 R599G probably damaging Het
D7Ertd443e A G 7: 134,270,201 S644P probably damaging Het
Dnlz A T 2: 26,351,471 C82S probably damaging Het
Egr4 A T 6: 85,512,743 F112I probably damaging Het
Emilin1 C T 5: 30,917,738 P441L possibly damaging Het
F11 T C 8: 45,252,147 D119G possibly damaging Het
Fat4 T A 3: 38,995,899 V3970D possibly damaging Het
Fbxw5 C A 2: 25,504,761 C222* probably null Het
Fn1 C T 1: 71,613,943 G1296R probably null Het
Ghr A G 15: 3,320,025 V557A probably benign Het
Gm11568 A G 11: 99,858,244 S92G unknown Het
Gpatch1 A T 7: 35,288,678 S678T probably benign Het
Gpr155 A G 2: 73,348,135 probably null Het
Gucy2f A T X: 142,116,273 M697K probably benign Het
Hecw1 T C 13: 14,346,068 T195A probably benign Het
Hoxd1 A G 2: 74,764,157 K252R probably damaging Het
Iqck G A 7: 118,899,657 D173N possibly damaging Het
Irf8 A G 8: 120,753,527 E168G probably damaging Het
Kcnh1 T G 1: 192,337,521 V358G probably damaging Het
Kifap3 T A 1: 163,868,758 V652D possibly damaging Het
Map4k1 T A 7: 29,001,957 H729Q probably damaging Het
March1 T A 8: 66,387,499 N311K probably benign Het
Mier2 T C 10: 79,544,534 I321V probably damaging Het
Mta1 C T 12: 113,128,150 S291L probably damaging Het
Myh2 A G 11: 67,190,358 K1267E possibly damaging Het
Nbea A T 3: 55,988,085 probably null Het
Nexmif T G X: 104,087,846 E155A possibly damaging Het
Nkpd1 A G 7: 19,523,897 I534V probably benign Het
Nxph1 G T 6: 9,247,746 C239F probably damaging Het
Odc1 A G 12: 17,548,424 I189V probably benign Het
Olfr1170 A G 2: 88,224,823 F70L probably benign Het
Olfr314 T C 11: 58,786,666 V144A probably benign Het
Olfr351 A T 2: 36,860,101 N82K probably damaging Het
Olfr781 T C 10: 129,333,457 I192T probably benign Het
Pcdhb15 T C 18: 37,475,443 L576P probably damaging Het
Raph1 T C 1: 60,498,500 D499G probably damaging Het
Rptor T A 11: 119,756,322 C246* probably null Het
Rtl1 T C 12: 109,594,667 E246G unknown Het
Setx GTGGCT GT 2: 29,154,061 probably null Het
Slc12a3 T A 8: 94,333,287 I187N possibly damaging Het
Slc46a1 T G 11: 78,466,423 S101A probably benign Het
Slc4a8 A G 15: 100,807,402 M830V probably benign Het
Sned1 T A 1: 93,281,642 probably null Het
St3gal6 T A 16: 58,488,969 E34D possibly damaging Het
Tcstv3 C T 13: 120,317,654 Q30* probably null Het
Tex16 T A X: 112,121,141 D1112E probably damaging Het
Tmcc3 G A 10: 94,578,915 V160I probably damaging Het
Tmf1 T A 6: 97,163,586 L776F probably damaging Het
Tsr1 A T 11: 74,904,827 probably null Het
Tyrp1 A T 4: 80,837,534 E180V probably damaging Het
Ubr3 T C 2: 70,016,341 V1636A probably benign Het
Usp1 T C 4: 98,929,842 L139P probably damaging Het
Vmn1r232 A G 17: 20,914,203 L45P probably benign Het
Vmn1r49 G A 6: 90,072,144 T292I probably benign Het
Wdr19 T A 5: 65,240,991 M853K possibly damaging Het
Zkscan8 C T 13: 21,521,796 M265I probably benign Het
Other mutations in L3hypdh
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02152:L3hypdh APN 12 72077143 critical splice donor site probably null
IGL02718:L3hypdh APN 12 72084856 missense probably damaging 1.00
R0128:L3hypdh UTSW 12 72077143 critical splice donor site probably null
R1109:L3hypdh UTSW 12 72073996 missense possibly damaging 0.93
R1689:L3hypdh UTSW 12 72084753 missense probably damaging 1.00
R2080:L3hypdh UTSW 12 72079527 missense probably damaging 0.96
R4003:L3hypdh UTSW 12 72085116 missense probably benign 0.00
R4358:L3hypdh UTSW 12 72077424 missense probably damaging 1.00
R4760:L3hypdh UTSW 12 72077242 missense probably benign 0.05
R4825:L3hypdh UTSW 12 72077393 missense probably benign 0.00
R5926:L3hypdh UTSW 12 72077185 missense probably damaging 1.00
R7223:L3hypdh UTSW 12 72074009 missense possibly damaging 0.71
R7426:L3hypdh UTSW 12 72084931 missense probably damaging 1.00
R8026:L3hypdh UTSW 12 72084949 missense probably damaging 1.00
X0028:L3hypdh UTSW 12 72079494 missense probably benign 0.01
Predicted Primers PCR Primer
(F):5'- AGTCTCACCCTTTACCTGAGG -3'
(R):5'- TGAGATTGCCACCGGTTCTG -3'

Sequencing Primer
(F):5'- CAAAGGCTGGGACGCTGTG -3'
(R):5'- TCCCTGGACGCAGACAATG -3'
Posted On2014-10-30