Incidental Mutation 'R6274:Prodh'
ID507548
Institutional Source Beutler Lab
Gene Symbol Prodh
Ensembl Gene ENSMUSG00000003526
Gene Nameproline dehydrogenase
SynonymsPro1, Ym24d07, Pro-1
MMRRC Submission
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #R6274 (G1)
Quality Score225.009
Status Validated
Chromosome16
Chromosomal Location18060357-18090203 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 18081058 bp
ZygosityHeterozygous
Amino Acid Change Lysine to Glutamic Acid at position 178 (K178E)
Ref Sequence ENSEMBL: ENSMUSP00000003620 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000003620] [ENSMUST00000132241] [ENSMUST00000136776] [ENSMUST00000139861] [ENSMUST00000232554]
Predicted Effect possibly damaging
Transcript: ENSMUST00000003620
AA Change: K178E

PolyPhen 2 Score 0.907 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000003620
Gene: ENSMUSG00000003526
AA Change: K178E

DomainStartEndE-ValueType
signal peptide 1 18 N/A INTRINSIC
low complexity region 23 35 N/A INTRINSIC
low complexity region 41 52 N/A INTRINSIC
Pfam:Pro_dh 119 578 7.7e-87 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000123969
Predicted Effect probably benign
Transcript: ENSMUST00000126087
SMART Domains Protein: ENSMUSP00000121736
Gene: ENSMUSG00000003526

DomainStartEndE-ValueType
Pfam:Pro_dh 25 244 2.9e-76 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000132241
Predicted Effect possibly damaging
Transcript: ENSMUST00000136776
AA Change: K76E

PolyPhen 2 Score 0.555 (Sensitivity: 0.88; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000117597
Gene: ENSMUSG00000003526
AA Change: K76E

DomainStartEndE-ValueType
low complexity region 118 129 N/A INTRINSIC
Pfam:Pro_dh 159 479 1.8e-108 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000139861
SMART Domains Protein: ENSMUSP00000123223
Gene: ENSMUSG00000003526

DomainStartEndE-ValueType
signal peptide 1 18 N/A INTRINSIC
low complexity region 23 35 N/A INTRINSIC
low complexity region 41 52 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000141635
Predicted Effect noncoding transcript
Transcript: ENSMUST00000232384
Predicted Effect noncoding transcript
Transcript: ENSMUST00000232502
Predicted Effect probably benign
Transcript: ENSMUST00000232554
Meta Mutation Damage Score 0.0896 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 97.9%
  • 20x: 94.1%
Validation Efficiency 100% (56/56)
MGI Phenotype PHENOTYPE: Homozygotes for a spontaneous null mutation exhibit a slight reduction in male body weight, hyperprolinemia, increased startle reflex, and regionally altered brain levels of proline, glutamate, gamma-aminobutyric acid, and aspartate. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 55 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ank3 G A 10: 70,002,565 R1566K possibly damaging Het
Ano1 A T 7: 144,618,863 S528T probably benign Het
Araf G T X: 20,860,100 R601L probably damaging Homo
Bcl2l10 T C 9: 75,351,072 I172T possibly damaging Het
Bpifb3 A T 2: 153,929,323 N385I possibly damaging Het
Bsnd A G 4: 106,486,635 V158A probably damaging Het
Cacna1s A G 1: 136,089,045 N481S probably benign Het
Cdk5rap1 A G 2: 154,368,241 V138A probably damaging Het
Cep290 A G 10: 100,530,207 E1099G probably damaging Het
Cers1 T A 8: 70,331,077 L225Q probably damaging Het
Cfb T C 17: 34,862,093 Q7R probably benign Het
Clk4 A G 11: 51,271,921 S98G possibly damaging Het
Clock A G 5: 76,237,153 S406P probably benign Het
Csmd3 T C 15: 47,621,437 I3178V probably benign Het
Dock10 A G 1: 80,538,823 S1397P probably damaging Het
Fer1l4 A G 2: 156,029,268 L1421P probably damaging Het
Fetub C T 16: 22,932,331 R143C probably damaging Het
Greb1 G T 12: 16,735,151 T91K probably damaging Het
Grid2ip G A 5: 143,380,429 S379N probably damaging Het
Gucy1b2 A T 14: 62,415,939 C336S probably damaging Het
Hdac1 A G 4: 129,519,109 C261R probably damaging Het
Hrasls5 C T 19: 7,637,466 T231I probably damaging Het
Htt T C 5: 34,852,087 S1471P possibly damaging Het
Ice1 A G 13: 70,594,839 V2134A probably damaging Het
Ikzf1 C T 11: 11,768,961 Q310* probably null Het
Il3ra G A 14: 14,350,180 V112I probably benign Het
Kif21b A G 1: 136,149,418 I393V possibly damaging Het
Krt74 T C 15: 101,763,437 noncoding transcript Het
Krtap29-1 T C 11: 99,978,983 N24S probably null Het
Mut T C 17: 40,956,245 V570A probably benign Het
Myh7 T C 14: 54,979,486 D1138G probably damaging Het
Nktr T C 9: 121,731,565 I125T probably damaging Het
Nlrp2 A T 7: 5,317,555 L861Q probably damaging Het
Notch3 C A 17: 32,147,290 R990L probably benign Het
Nrap T C 19: 56,361,721 D655G probably benign Het
Olfr1329 A T 4: 118,917,230 V79E probably benign Het
Olfr1451 G A 19: 12,999,870 V295I probably damaging Het
Osbpl11 T A 16: 33,227,056 I463N probably damaging Het
Pcsk6 A T 7: 66,033,844 R749W probably damaging Het
Plxnb1 T C 9: 109,112,141 probably null Het
Polr1a T A 6: 71,954,890 probably null Het
Ppm1g T C 5: 31,206,406 I153V probably damaging Het
Ppp1r12a T C 10: 108,260,890 S191P probably benign Het
Rilpl2 A G 5: 124,469,848 V103A possibly damaging Het
Sap18b C T 8: 95,825,541 H60Y probably benign Het
Sclt1 A G 3: 41,629,516 probably null Het
Serpinb1a G T 13: 32,842,866 H364Q probably damaging Het
Sez6l G A 5: 112,475,365 Q107* probably null Het
Sipa1l2 C T 8: 125,469,872 V708I probably damaging Het
Tbc1d2 C T 4: 46,629,912 G252R probably benign Het
Uaca T A 9: 60,850,291 probably null Het
Uqcrc1 C A 9: 108,942,156 H95N probably damaging Het
Usp9y C T Y: 1,316,735 R1938H probably damaging Homo
Wnk4 C T 11: 101,265,431 R42W probably damaging Het
Zfp326 T A 5: 105,905,980 L242Q probably damaging Het
Other mutations in Prodh
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01085:Prodh APN 16 18076344 missense probably damaging 0.99
IGL02063:Prodh APN 16 18079185 critical splice donor site probably null
IGL02525:Prodh APN 16 18072468 nonsense probably null
R0147:Prodh UTSW 16 18077813 missense probably damaging 1.00
R0148:Prodh UTSW 16 18077813 missense probably damaging 1.00
R1643:Prodh UTSW 16 18081069 missense probably benign 0.23
R1913:Prodh UTSW 16 18081027 missense probably damaging 1.00
R4190:Prodh UTSW 16 18073640 missense probably benign 0.27
R4191:Prodh UTSW 16 18073640 missense probably benign 0.27
R4193:Prodh UTSW 16 18073640 missense probably benign 0.27
R4204:Prodh UTSW 16 18072318 missense probably damaging 1.00
R5074:Prodh UTSW 16 18077789 critical splice donor site probably null
R6194:Prodh UTSW 16 18072517 missense probably benign 0.16
R6376:Prodh UTSW 16 18079985 missense probably benign
R6744:Prodh UTSW 16 18079200 missense probably benign 0.43
Z1177:Prodh UTSW 16 18089027 missense probably benign 0.34
Predicted Primers PCR Primer
(F):5'- TCAGGAACAAGCAGATGCCC -3'
(R):5'- CCAGGGGAATATCAGTGCCTATC -3'

Sequencing Primer
(F):5'- TGCCAATGAGCTGCCTAC -3'
(R):5'- TATCAGTGCCTATCAGGAGAGC -3'
Posted On2018-03-15