Mutagenetix > Incidental Mutation

Incidental Mutation 'R8985:Prodh'

683996

Institutional Source

Beutler Lab

Gene Symbol

Prodh

Ensembl Gene

ENSMUSG00000003526

Gene Name

proline dehydrogenase

Synonyms

Pro-1, Ym24d07, Pro1

MMRRC Submission

068818-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8985 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

17889590-17907148 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 17890362 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Serine at position 522 (C522S)

Ref Sequence

ENSEMBL: ENSMUSP00000003620 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000003620] [ENSMUST00000066027] [ENSMUST00000076757] [ENSMUST00000136776] [ENSMUST00000139861] [ENSMUST00000143343] [ENSMUST00000151266] [ENSMUST00000153123] [ENSMUST00000155387] [ENSMUST00000232554]

AlphaFold

Q9WU79

Predicted Effect

probably null
Transcript: ENSMUST00000003620
AA Change: C522S

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000003620
Gene: ENSMUSG00000003526
AA Change: C522S

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

SMART Domains

Protein: ENSMUSP00000121736
Gene: ENSMUSG00000003526
AA Change: C192S

Domain	Start	End	E-Value	Type
Pfam:Pro_dh	25	244	2.9e-76	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000136776
AA Change: C420S

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000117597
Gene: ENSMUSG00000003526
AA Change: C420S

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

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

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

Predicted Effect

probably benign
Transcript: ENSMUST00000232554

Meta Mutation Damage Score

0.9756

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.4%

Validation Efficiency

100% (74/74)

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: 72 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acad9	T	A	3: 36,141,860 (GRCm39)		probably benign	Het
Agbl1	C	A	7: 75,969,904 (GRCm39)	S53R		Het
Ahr	T	C	12: 35,576,736 (GRCm39)	K65R	possibly damaging	Het
AI429214	A	T	8: 37,460,820 (GRCm39)		probably benign	Het
Ankrd52	T	C	10: 128,222,978 (GRCm39)	S643P	probably damaging	Het
Asz1	T	C	6: 18,051,336 (GRCm39)	T448A	probably benign	Het
Atp10a	A	G	7: 58,438,092 (GRCm39)	I425V	probably benign	Het
Casd1	T	A	6: 4,624,399 (GRCm39)	Y397*	probably null	Het
Ccdc162	A	G	10: 41,432,102 (GRCm39)	I1797T	probably damaging	Het
Cdc20b	A	T	13: 113,196,330 (GRCm39)	R152*	probably null	Het
Cdc25b	T	C	2: 131,035,180 (GRCm39)	C313R	probably damaging	Het
Cfap73	T	A	5: 120,768,123 (GRCm39)	T212S	probably benign	Het
Chd9	G	T	8: 91,721,101 (GRCm39)	R963L	unknown	Het
Clip4	G	T	17: 72,113,527 (GRCm39)	V226F	probably damaging	Het
Cmya5	A	G	13: 93,233,664 (GRCm39)	S475P	possibly damaging	Het
Cntn5	A	G	9: 10,171,960 (GRCm39)	Y75H	possibly damaging	Het
Crtc1	T	G	8: 70,855,092 (GRCm39)	H176P	probably damaging	Het
Cspg5	T	C	9: 110,085,502 (GRCm39)	W558R	unknown	Het
Cyp2c39	A	G	19: 39,552,419 (GRCm39)	T371A	probably benign	Het
Dcaf8	G	A	1: 172,000,199 (GRCm39)	R119H	probably benign	Het
Drosha	G	T	15: 12,924,187 (GRCm39)	A1190S	possibly damaging	Het
Dst	T	C	1: 34,288,886 (GRCm39)	V5655A	probably benign	Het
Etnk1	C	G	6: 143,140,953 (GRCm39)		probably benign	Het
Flnc	T	A	6: 29,440,499 (GRCm39)	V269D	probably benign	Het
Foxs1	T	A	2: 152,775,058 (GRCm39)		probably benign	Het
Ftsj3	T	C	11: 106,141,595 (GRCm39)	Y551C	possibly damaging	Het
Fzd6	A	T	15: 38,895,019 (GRCm39)	H395L	probably damaging	Het
Grm6	C	T	11: 50,746,537 (GRCm39)	A289V	possibly damaging	Het
Hook1	A	G	4: 95,910,468 (GRCm39)	D694G	probably benign	Het
Idh2	TCCCAGG	T	7: 79,748,079 (GRCm39)		probably benign	Het
Igha	T	C	12: 113,222,611 (GRCm39)	E270G		Het
Itga2b	C	A	11: 102,356,288 (GRCm39)		probably benign	Het
Jade1	A	C	3: 41,568,148 (GRCm39)	S739R	probably benign	Het
Lpin3	T	C	2: 160,738,674 (GRCm39)	S209P	probably benign	Het
Ly6i	A	C	15: 74,851,806 (GRCm39)	L121R	probably damaging	Het
Ms4a1	C	T	19: 11,232,055 (GRCm39)	V107I	probably benign	Het
Mycbpap	T	A	11: 94,404,722 (GRCm39)	T74S	probably benign	Het
Nlrp14	A	G	7: 106,796,436 (GRCm39)	N921D	probably benign	Het
Nmur1	C	T	1: 86,314,103 (GRCm39)	E388K	probably benign	Het
Nol4	T	C	18: 23,085,294 (GRCm39)	Y40C	probably damaging	Het
Or1e1c	T	C	11: 73,266,252 (GRCm39)	S229P	possibly damaging	Het
Or51k1	A	T	7: 103,661,367 (GRCm39)	C181S	probably damaging	Het
Or8b51	A	T	9: 38,569,621 (GRCm39)	Y22*	probably null	Het
Pawr	G	A	10: 108,247,861 (GRCm39)	V283M	possibly damaging	Het
Pde6b	T	C	5: 108,578,503 (GRCm39)	Y814H	probably benign	Het
Pds5b	T	A	5: 150,724,239 (GRCm39)	L1272H	probably benign	Het
Pkd1l2	T	C	8: 117,764,849 (GRCm39)	T1350A	probably benign	Het
Plcz1	T	A	6: 139,961,903 (GRCm39)	Q216L	possibly damaging	Het
Rasef	G	T	4: 73,708,960 (GRCm39)	P91Q	possibly damaging	Het
Rgs14	G	A	13: 55,531,234 (GRCm39)		probably benign	Het
Rnase6	A	T	14: 51,367,632 (GRCm39)	Y8F	unknown	Het
Rnf216	T	A	5: 143,076,180 (GRCm39)	T235S	probably benign	Het
Slco2a1	G	A	9: 102,949,834 (GRCm39)		probably null	Het
Smoc1	A	G	12: 81,226,261 (GRCm39)	E362G	probably damaging	Het
Sncaip	T	C	18: 53,002,169 (GRCm39)	L230P	probably benign	Het
Tdrd3	A	G	14: 87,743,597 (GRCm39)	E515G	possibly damaging	Het
Tipin	T	A	9: 64,195,385 (GRCm39)		probably null	Het
Tmem9	T	A	1: 135,955,145 (GRCm39)	V93D	possibly damaging	Het
Tpm3-rs7	A	C	14: 113,552,756 (GRCm39)	I217L	probably benign	Het
Ttc41	A	T	10: 86,566,956 (GRCm39)	I541F	possibly damaging	Het
Uck2	T	C	1: 167,070,681 (GRCm39)	D16G	probably benign	Het
Vmn1r50	A	G	6: 90,085,017 (GRCm39)	D254G	probably benign	Het
Vmn2r50	A	C	7: 9,779,974 (GRCm39)	F469C	probably damaging	Het
Vmn2r57	A	G	7: 41,049,259 (GRCm39)	V830A	probably benign	Het
Wwc2	T	A	8: 48,331,919 (GRCm39)	R299S	probably benign	Het
Xdh	C	T	17: 74,228,346 (GRCm39)	G352R	probably damaging	Het
Xkr9	A	T	1: 13,770,990 (GRCm39)	M169L	probably benign	Het
Zbtb10	A	G	3: 9,345,807 (GRCm39)	D767G	probably damaging	Het
Zfp106	T	C	2: 120,366,077 (GRCm39)	Y65C		Het
Zfp536	A	G	7: 37,268,228 (GRCm39)	L396P	probably damaging	Het
Znhit1	C	A	5: 137,011,408 (GRCm39)	C135F	probably damaging	Het
Zscan5b	A	G	7: 6,241,834 (GRCm39)	E351G	probably damaging	Het

Other mutations in Prodh

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01085:Prodh	APN	16	17,894,208 (GRCm39)	missense	probably damaging	0.99
IGL02063:Prodh	APN	16	17,897,049 (GRCm39)	critical splice donor site	probably null
IGL02525:Prodh	APN	16	17,890,332 (GRCm39)	nonsense	probably null
R0147:Prodh	UTSW	16	17,895,677 (GRCm39)	missense	probably damaging	1.00
R0148:Prodh	UTSW	16	17,895,677 (GRCm39)	missense	probably damaging	1.00
R1643:Prodh	UTSW	16	17,898,933 (GRCm39)	missense	probably benign	0.23
R1913:Prodh	UTSW	16	17,898,891 (GRCm39)	missense	probably damaging	1.00
R4190:Prodh	UTSW	16	17,891,504 (GRCm39)	missense	probably benign	0.27
R4191:Prodh	UTSW	16	17,891,504 (GRCm39)	missense	probably benign	0.27
R4193:Prodh	UTSW	16	17,891,504 (GRCm39)	missense	probably benign	0.27
R4204:Prodh	UTSW	16	17,890,182 (GRCm39)	missense	probably damaging	1.00
R5074:Prodh	UTSW	16	17,895,653 (GRCm39)	critical splice donor site	probably null
R6194:Prodh	UTSW	16	17,890,381 (GRCm39)	missense	probably benign	0.16
R6274:Prodh	UTSW	16	17,898,922 (GRCm39)	missense	possibly damaging	0.91
R6376:Prodh	UTSW	16	17,897,849 (GRCm39)	missense	probably benign
R6744:Prodh	UTSW	16	17,897,064 (GRCm39)	missense	probably benign	0.43
R9335:Prodh	UTSW	16	17,894,160 (GRCm39)	missense	probably damaging	1.00
R9361:Prodh	UTSW	16	17,898,834 (GRCm39)	missense	probably benign	0.44
R9568:Prodh	UTSW	16	17,902,619 (GRCm39)	intron	probably benign
R9789:Prodh	UTSW	16	17,898,049 (GRCm39)	missense	probably damaging	1.00
Z1177:Prodh	UTSW	16	17,906,891 (GRCm39)	missense	probably benign	0.34

Predicted Primers

PCR Primer
(F):5'- GGGCACATACTTGTACACAGG -3'
(R):5'- ACAAGTTTTCTGCCCTGGCC -3'

Sequencing Primer
(F):5'- GGCACATACTTGTACACAGGAAAGC -3'
(R):5'- GTTGTACTGTGAAGACCTAGATAGC -3'

Posted On

2021-10-11