Incidental Mutation 'IGL02525:Prodh'
ID297055
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Prodh
Ensembl Gene ENSMUSG00000003526
Gene Nameproline dehydrogenase
SynonymsPro1, Ym24d07, Pro-1
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL02525
Quality Score
Status
Chromosome16
Chromosomal Location18060357-18090203 bp(-) (GRCm38)
Type of Mutationnonsense
DNA Base Change (assembly) G to A at 18072468 bp
ZygosityHeterozygous
Amino Acid Change Glutamine to Stop codon at position 430 (Q430*)
Ref Sequence ENSEMBL: ENSMUSP00000117597 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000003620] [ENSMUST00000066027] [ENSMUST00000076757] [ENSMUST00000136776] [ENSMUST00000139861] [ENSMUST00000143343] [ENSMUST00000151266] [ENSMUST00000153123] [ENSMUST00000155387] [ENSMUST00000232554]
Predicted Effect probably null
Transcript: ENSMUST00000003620
AA Change: Q532*
SMART Domains Protein: ENSMUSP00000003620
Gene: ENSMUSG00000003526
AA Change: Q532*

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 probably benign
Transcript: ENSMUST00000066027
SMART Domains Protein: ENSMUSP00000067682
Gene: ENSMUSG00000003531

DomainStartEndE-ValueType
Pfam:DGCR6 1 198 4e-97 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000076757
SMART Domains Protein: ENSMUSP00000076044
Gene: ENSMUSG00000003531

DomainStartEndE-ValueType
Pfam:DGCR6 2 167 1.1e-85 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000123969
Predicted Effect probably null
Transcript: ENSMUST00000126087
AA Change: Q202*
SMART Domains Protein: ENSMUSP00000121736
Gene: ENSMUSG00000003526
AA Change: Q202*

DomainStartEndE-ValueType
Pfam:Pro_dh 25 244 2.9e-76 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000136776
AA Change: Q430*
SMART Domains Protein: ENSMUSP00000117597
Gene: ENSMUSG00000003526
AA Change: Q430*

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 probably benign
Transcript: ENSMUST00000143343
SMART Domains Protein: ENSMUSP00000123029
Gene: ENSMUSG00000003531

DomainStartEndE-ValueType
Pfam:DGCR6 2 167 1.1e-85 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000148514
Predicted Effect probably benign
Transcript: ENSMUST00000151266
SMART Domains Protein: ENSMUSP00000122572
Gene: ENSMUSG00000003531

DomainStartEndE-ValueType
Pfam:DGCR6 1 195 3.1e-99 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000153123
SMART Domains Protein: ENSMUSP00000118954
Gene: ENSMUSG00000003531

DomainStartEndE-ValueType
Pfam:DGCR6 3 163 9.6e-83 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000155387
SMART Domains Protein: ENSMUSP00000123053
Gene: ENSMUSG00000003531

DomainStartEndE-ValueType
Pfam:DGCR6 2 41 1.6e-10 PFAM
Pfam:DGCR6 59 230 9.3e-84 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000160746
Predicted Effect noncoding transcript
Transcript: ENSMUST00000232384
Predicted Effect probably benign
Transcript: ENSMUST00000232554
Coding Region Coverage
Validation Efficiency
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: 69 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam18 C T 8: 24,611,044 V701I probably benign Het
Adam18 A G 8: 24,641,767 probably benign Het
Adamts20 G T 15: 94,283,078 probably null Het
Adgrf5 G T 17: 43,449,963 V850F probably damaging Het
Agap2 T A 10: 127,083,201 probably null Het
Ap4b1 G A 3: 103,812,848 R62K probably damaging Het
Atp2a3 C A 11: 72,975,339 H262N probably benign Het
Ccdc12 T A 9: 110,711,101 D120E probably damaging Het
Ccdc22 A G X: 7,595,010 S529P probably damaging Het
Col1a2 A G 6: 4,531,355 probably benign Het
Ddx59 A T 1: 136,417,005 Q138L probably benign Het
Dlc1 A T 8: 36,579,646 F1091L probably damaging Het
Dnah1 C T 14: 31,305,833 V682M probably benign Het
Dock9 C T 14: 121,640,126 D404N probably damaging Het
Eif2b4 A G 5: 31,189,618 V402A probably damaging Het
Erlin1 T C 19: 44,039,195 H268R probably benign Het
Ermard T C 17: 15,059,339 probably benign Het
Fam43a A G 16: 30,600,778 K60R probably benign Het
Frmd4b T A 6: 97,412,533 D78V probably damaging Het
Gabrq A G X: 72,836,824 T308A possibly damaging Het
Gipr A G 7: 19,159,765 C328R possibly damaging Het
Gm17078 T C 14: 51,611,223 N19S possibly damaging Het
Gm17541 T C 12: 4,689,907 probably benign Het
Gm21759 T C 5: 8,179,967 probably benign Het
Gm7964 A G 7: 83,756,042 noncoding transcript Het
Gspt1 A G 16: 11,230,990 V318A probably damaging Het
Gtf2ird2 A G 5: 134,216,477 S526G probably benign Het
Hey2 A G 10: 30,842,647 M1T probably null Het
Hipk3 T C 2: 104,471,412 D145G probably damaging Het
Ick A G 9: 78,160,393 K390E probably benign Het
Itgae A G 11: 73,130,951 D886G probably damaging Het
Ktn1 T A 14: 47,724,743 probably null Het
Med12l A G 3: 59,068,368 K239R probably benign Het
Milr1 A T 11: 106,765,275 M124L probably benign Het
Mon1b G T 8: 113,638,823 R261L possibly damaging Het
Mterf1a G A 5: 3,891,583 S95F probably benign Het
Myef2 C A 2: 125,114,058 probably benign Het
Nfrkb T A 9: 31,414,516 I1085N possibly damaging Het
Olfr275 A T 4: 52,825,616 Y73F probably damaging Het
Olfr924 T A 9: 38,848,240 M42K possibly damaging Het
Pstk G T 7: 131,371,193 R7L probably benign Het
Ptgr1 C A 4: 58,978,067 E108D probably benign Het
Ptpn9 T A 9: 57,036,725 Y294* probably null Het
Rnls C T 19: 33,138,214 V153M possibly damaging Het
Ros1 T C 10: 52,116,042 T1362A possibly damaging Het
Samt3 G A X: 86,046,921 A140T possibly damaging Het
Sbpl T A 17: 23,954,863 M16L unknown Het
Sephs1 G A 2: 4,906,596 C327Y probably damaging Het
Slc13a1 A T 6: 24,137,136 I93N probably damaging Het
Slc34a1 T C 13: 55,403,238 probably benign Het
Slc7a9 T C 7: 35,453,435 S93P probably damaging Het
Slx4 A G 16: 3,980,597 S1444P probably damaging Het
Stk32b C T 5: 37,531,633 V116M probably damaging Het
Supt5 A G 7: 28,318,947 probably benign Het
Syne2 T A 12: 76,101,003 S6439T probably damaging Het
Taar7d A G 10: 24,028,096 D292G possibly damaging Het
Tal2 A T 4: 53,785,971 I51F probably damaging Het
Thegl T A 5: 77,016,553 D134E probably benign Het
Tk2 A T 8: 104,243,400 N77K probably benign Het
Tmprss3 T A 17: 31,194,891 probably benign Het
Tnfrsf10b T C 14: 69,782,376 M319T probably damaging Het
Trim24 A G 6: 37,945,718 R417G probably damaging Het
Ttn C A 2: 76,764,314 G18717* probably null Het
Vmn2r102 A G 17: 19,681,185 T525A probably benign Het
Wdr38 A T 2: 38,998,412 N7I probably damaging Het
Wnt3 C T 11: 103,812,470 R260W probably damaging Het
Xdh T A 17: 73,924,995 Q240L possibly damaging Het
Zbtb5 T C 4: 44,994,731 T218A probably benign Het
Znfx1 C T 2: 167,037,537 E776K probably benign 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
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
R6274:Prodh UTSW 16 18081058 missense possibly damaging 0.91
R6376:Prodh UTSW 16 18079985 missense probably benign
R6744:Prodh UTSW 16 18079200 missense probably benign 0.43
Posted On2015-04-16