Mutagenetix > Incidental Mutation

Incidental Mutation 'R9361:Prodh'

708728

Institutional Source

Beutler Lab

Gene Symbol

Prodh

Ensembl Gene

ENSMUSG00000003526

Gene Name

proline dehydrogenase

Synonyms

Pro-1, Ym24d07, Pro1

MMRRC Submission

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R9361 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

17889590-17907148 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 17898834 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Tyrosine at position 207 (C207Y)

Ref Sequence

ENSEMBL: ENSMUSP00000003620 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000003620] [ENSMUST00000132241] [ENSMUST00000136776] [ENSMUST00000139861] [ENSMUST00000232554]

AlphaFold

Q9WU79

Predicted Effect

probably benign
Transcript: ENSMUST00000003620
AA Change: C207Y

PolyPhen 2 Score 0.444 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000003620
Gene: ENSMUSG00000003526
AA Change: C207Y

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: ENSMUST00000126087

SMART Domains

Protein: ENSMUSP00000121736
Gene: ENSMUSG00000003526

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

Predicted Effect

probably benign
Transcript: ENSMUST00000132241

Predicted Effect

probably benign
Transcript: ENSMUST00000136776
AA Change: C105Y

PolyPhen 2 Score 0.444 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000117597
Gene: ENSMUSG00000003526
AA Change: C105Y

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: ENSMUST00000232554

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.5%

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: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1190005I06Rik	C	T	8: 121,361,060 (GRCm39)	A12T	unknown	Het
Aasdh	T	A	5: 77,030,225 (GRCm39)	T792S	probably benign	Het
Actl11	T	A	9: 107,805,824 (GRCm39)	L49Q	probably damaging	Het
Adcy3	G	T	12: 4,259,366 (GRCm39)	R881L	possibly damaging	Het
Alox15	T	G	11: 70,241,679 (GRCm39)	K67N	probably damaging	Het
Amotl1	C	T	9: 14,504,677 (GRCm39)	R177Q	probably benign	Het
Ankrd34c	T	A	9: 89,612,183 (GRCm39)	I53F	probably damaging	Het
Atp8b5	T	A	4: 43,369,658 (GRCm39)	F932Y	possibly damaging	Het
Bckdk	A	G	7: 127,506,515 (GRCm39)	M281V	probably benign	Het
Ccdc33	C	T	9: 58,024,908 (GRCm39)	C106Y	possibly damaging	Het
Celsr3	T	A	9: 108,726,521 (GRCm39)	I3250N	probably damaging	Het
Ces1g	A	T	8: 94,061,646 (GRCm39)		probably null	Het
Ces2b	G	A	8: 105,564,039 (GRCm39)		probably null	Het
Clspn	A	T	4: 126,479,654 (GRCm39)	D1033V	probably damaging	Het
Cntln	G	T	4: 84,968,151 (GRCm39)	R790I	probably benign	Het
Cspg4	T	C	9: 56,803,877 (GRCm39)	V1656A	probably damaging	Het
Dennd2b	A	G	7: 109,126,991 (GRCm39)	S907P	probably damaging	Het
Dlgap1	A	T	17: 71,068,259 (GRCm39)	D610V	probably damaging	Het
Efcab3	C	T	11: 104,896,524 (GRCm39)	T4291I	probably benign	Het
Eya4	C	A	10: 22,985,766 (GRCm39)	G579W	probably damaging	Het
Fam83b	T	C	9: 76,400,076 (GRCm39)	I342M	probably benign	Het
Fhdc1	A	C	3: 84,356,140 (GRCm39)	C435G	probably damaging	Het
Fktn	G	A	4: 53,734,854 (GRCm39)	G125D	probably benign	Het
Fras1	T	G	5: 96,924,557 (GRCm39)	L3666R	probably damaging	Het
Gm21560	T	A	14: 6,218,262 (GRCm38)	H72L	possibly damaging	Het
Gtsf2	C	T	15: 103,348,066 (GRCm39)	W148*	probably null	Het
Gucy2c	T	C	6: 136,714,429 (GRCm39)	K466E	possibly damaging	Het
Higd2a	T	A	13: 54,738,120 (GRCm39)	D14E	probably benign	Het
Hlcs	C	T	16: 93,939,799 (GRCm39)	V513M	probably benign	Het
Ido1	T	C	8: 25,079,601 (GRCm39)	T148A	probably benign	Het
Ighv1-5	T	A	12: 114,476,985 (GRCm39)	T106S	probably damaging	Het
Igkv4-92	T	C	6: 68,732,090 (GRCm39)	T95A	possibly damaging	Het
Krt9	TCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCC	TCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCC	11: 100,079,903 (GRCm39)		probably benign	Het
Larp4b	T	G	13: 9,199,937 (GRCm39)	F278V	probably damaging	Het
Lrch4	G	A	5: 137,635,076 (GRCm39)	R225H	probably damaging	Het
Mapkbp1	T	C	2: 119,845,252 (GRCm39)	Y378H	probably benign	Het
Nme9	T	A	9: 99,341,775 (GRCm39)	C42S	probably damaging	Het
Or2y10	A	G	11: 49,455,303 (GRCm39)	K185R	probably damaging	Het
Pdlim2	T	G	14: 70,402,190 (GRCm39)	T309P	probably damaging	Het
Pramel39-ps	G	T	5: 94,451,001 (GRCm39)	P375H	probably damaging	Het
Prom1	A	T	5: 44,213,229 (GRCm39)	L168Q	probably damaging	Het
Resf1	T	G	6: 149,228,132 (GRCm39)	S393A	possibly damaging	Het
Selplg	GTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCT	GTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCT	5: 113,957,756 (GRCm39)		probably benign	Het
Shkbp1	T	C	7: 27,051,492 (GRCm39)	Q189R	probably benign	Het
Skint4	T	C	4: 112,001,021 (GRCm39)	L372S	probably damaging	Het
Slc4a11	C	T	2: 130,533,664 (GRCm39)	A100T	probably damaging	Het
Specc1	A	T	11: 62,037,144 (GRCm39)	E699D	probably benign	Het
Speer1m	C	T	5: 11,970,646 (GRCm39)	T105M		Het
Syt6	C	A	3: 103,482,679 (GRCm39)		probably benign	Het
Tent5b	G	T	4: 133,213,461 (GRCm39)	A111S	probably damaging	Het
Tg	A	G	15: 66,557,246 (GRCm39)	E969G	possibly damaging	Het
Tie1	A	C	4: 118,336,829 (GRCm39)	H632Q	probably benign	Het
Trappc12	A	G	12: 28,796,417 (GRCm39)	W372R	probably damaging	Het
Trav7d-4	T	C	14: 53,007,606 (GRCm39)	V33A	probably damaging	Het
Ugdh	A	T	5: 65,575,886 (GRCm39)	N324K	probably damaging	Het
Vmn2r79	G	T	7: 86,652,822 (GRCm39)		probably null	Het
Washc2	T	C	6: 116,239,433 (GRCm39)	*1335Q	probably null	Het
Yme1l1	C	T	2: 23,081,063 (GRCm39)	T445I	possibly damaging	Het
Zdhhc11	T	C	13: 74,122,737 (GRCm39)	C158R	probably damaging	Het
Zfp128	T	C	7: 12,624,364 (GRCm39)	L244P	probably damaging	Het
Zfp445	T	A	9: 122,690,887 (GRCm39)	I103F	probably damaging	Het
Zfp980	A	T	4: 145,427,999 (GRCm39)	T243S	probably benign	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
R8985:Prodh	UTSW	16	17,890,362 (GRCm39)	missense	probably null	0.00
R9335:Prodh	UTSW	16	17,894,160 (GRCm39)	missense	probably damaging	1.00
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'- TTAATGCCTTCCACACCATAGC -3'
(R):5'- ATGTATGCTGGGACTGGCAG -3'

Sequencing Primer
(F):5'- TGTATGGGCCACAGAACAC -3'
(R):5'- CAGGGTGTTGAAGCTATGAACCC -3'

Posted On

2022-04-18