Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL02525:Prodh'

297055

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Prodh

Ensembl Gene

ENSMUSG00000003526

Gene Name

proline dehydrogenase

Synonyms

Pro1, Ym24d07, Pro-1

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL02525

Quality Score

Status

Chromosome

Chromosomal Location

18060357-18090203 bp(-) (GRCm38)

Type of Mutation

nonsense

DNA Base Change (assembly)

G to A at 18072468 bp

Zygosity

Heterozygous

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] [ENSMUST00000232554] [ENSMUST00000153123] [ENSMUST00000155387]

Predicted Effect

probably null
Transcript: ENSMUST00000003620
AA Change: Q532*

SMART Domains

Protein: ENSMUSP00000003620
Gene: ENSMUSG00000003526
AA Change: Q532*

Domain	Start	End	E-Value	Type
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

Domain	Start	End	E-Value	Type
Pfam:DGCR6	1	198	4e-97	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000076757

SMART Domains

Protein: ENSMUSP00000076044
Gene: ENSMUSG00000003531

Domain	Start	End	E-Value	Type
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*

Domain	Start	End	E-Value	Type
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*

Domain	Start	End	E-Value	Type
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

Domain	Start	End	E-Value	Type
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

Domain	Start	End	E-Value	Type
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

Domain	Start	End	E-Value	Type
Pfam:DGCR6	1	195	3.1e-99	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000160746

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000232384

Predicted Effect

probably benign
Transcript: ENSMUST00000232554

Predicted Effect

probably benign
Transcript: ENSMUST00000153123

SMART Domains

Protein: ENSMUSP00000118954
Gene: ENSMUSG00000003531

Domain	Start	End	E-Value	Type
Pfam:DGCR6	3	163	9.6e-83	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000155387

SMART Domains

Protein: ENSMUSP00000123053
Gene: ENSMUSG00000003531

Domain	Start	End	E-Value	Type
Pfam:DGCR6	2	41	1.6e-10	PFAM
Pfam:DGCR6	59	230	9.3e-84	PFAM

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
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
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

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH 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
Z1177:Prodh	UTSW	16	18089027	missense	probably benign	0.34

Posted On

2015-04-16