Mutagenetix > Incidental Mutation

Incidental Mutation 'R8026:L3hypdh'

617731

Institutional Source

Beutler Lab

Gene Symbol

L3hypdh

Ensembl Gene

ENSMUSG00000019718

Gene Name

L-3-hydroxyproline dehydratase (trans-)

Synonyms

2810055F11Rik

MMRRC Submission

067465-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.060) question?

Stock #

R8026 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

72120202-72132213 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 72131723 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Cysteine at position 70 (R70C)

Ref Sequence

ENSEMBL: ENSMUSP00000019862 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000019862] [ENSMUST00000057257] [ENSMUST00000117449] [ENSMUST00000125764]

AlphaFold

Q9CXA2

Predicted Effect

probably damaging
Transcript: ENSMUST00000019862
AA Change: R70C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000019862
Gene: ENSMUSG00000019718
AA Change: R70C

Domain	Start	End	E-Value	Type
Pfam:Pro_racemase	22	352	8.7e-122	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000057257

SMART Domains

Protein: ENSMUSP00000061370
Gene: ENSMUSG00000005078

Domain	Start	End	E-Value	Type
Pfam:DUF766	9	300	3.6e-118	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000117449

SMART Domains

Protein: ENSMUSP00000113744
Gene: ENSMUSG00000005078

Domain	Start	End	E-Value	Type
Pfam:DUF766	3	295	2.3e-145	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000125764

SMART Domains

Protein: ENSMUSP00000117251
Gene: ENSMUSG00000005078

Domain	Start	End	E-Value	Type
Pfam:DUF766	10	214	2.2e-106	PFAM

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.8%

Validation Efficiency

99% (66/67)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a dehydratase that converts trans-3-hydroxy-L-proline to delta(1)-pyrroline-2-carboxylate. This enzyme may function to degrade dietary proteins that contain trans-3-hydroxy-L-proline as well as other proteins such as collagen IV. The encoded protein can be converted to an epimerase by changing a threonine to a cysteine at a catalytic site. [provided by RefSeq, Sep 2016]

Allele List at MGI

Other mutations in this stock

Total: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb8	T	C	5: 24,611,723 (GRCm39)	V513A	probably damaging	Het
Acsf2	C	T	11: 94,453,714 (GRCm39)	V416M	probably damaging	Het
Adrm1	G	A	2: 179,817,002 (GRCm39)	A225T	unknown	Het
Aldh9a1	T	C	1: 167,180,236 (GRCm39)		probably null	Het
Apbb2	T	C	5: 66,608,987 (GRCm39)	D220G	probably benign	Het
Bace2	T	C	16: 97,238,052 (GRCm39)	V501A	probably benign	Het
Camsap1	T	C	2: 25,828,214 (GRCm39)	N1170S	probably benign	Het
Casr	A	G	16: 36,315,979 (GRCm39)	V697A	probably damaging	Het
Clcn1	T	C	6: 42,284,595 (GRCm39)		probably null	Het
Cobl	T	C	11: 12,203,459 (GRCm39)	K1081R	probably benign	Het
Ctr9	T	A	7: 110,633,099 (GRCm39)	L116I	probably damaging	Het
Dennd4a	T	C	9: 64,780,312 (GRCm39)	F616S	probably damaging	Het
Dynlt1a	C	T	17: 6,362,089 (GRCm39)	G30S	possibly damaging	Het
Eif1	T	C	11: 100,211,274 (GRCm39)	S23P	possibly damaging	Het
Eml6	A	C	11: 29,699,973 (GRCm39)	L1721R	possibly damaging	Het
Fscb	A	G	12: 64,521,049 (GRCm39)	I139T	probably benign	Het
Fstl4	A	G	11: 52,959,496 (GRCm39)	E179G	probably damaging	Het
Fuom	T	C	7: 139,680,067 (GRCm39)	T95A		Het
Gigyf1	C	T	5: 137,523,740 (GRCm39)	H1001Y	probably damaging	Het
Gm21886	T	A	18: 80,132,961 (GRCm39)	S66C	probably damaging	Het
Helz2	G	A	2: 180,881,998 (GRCm39)	T265I	probably benign	Het
Hs6st3	G	T	14: 120,106,968 (GRCm39)	V459F	probably damaging	Het
Ido2	A	G	8: 25,025,156 (GRCm39)		probably null	Het
Idua	A	G	5: 108,818,115 (GRCm39)	I96V	probably benign	Het
Iftap	A	T	2: 101,400,989 (GRCm39)		probably benign	Het
Inpp5j	A	G	11: 3,445,171 (GRCm39)	S494P		Het
Krt19	A	G	11: 100,032,209 (GRCm39)	V285A	probably damaging	Het
Krt71	T	G	15: 101,646,817 (GRCm39)	D297A	possibly damaging	Het
Masp1	T	C	16: 23,303,156 (GRCm39)	Y324C	probably damaging	Het
Mfap2	A	G	4: 140,741,114 (GRCm39)	D25G	possibly damaging	Het
Mmp17	G	A	5: 129,672,148 (GRCm39)		probably null	Het
Mroh7	G	A	4: 106,578,634 (GRCm39)	P15S	probably benign	Het
Muc5b	T	A	7: 141,417,373 (GRCm39)	C3440S	probably benign	Het
Naip5	C	A	13: 100,382,406 (GRCm39)	S101I	probably damaging	Het
Neb	A	T	2: 52,113,060 (GRCm39)	Y1066N		Het
Nop56	T	A	2: 130,119,188 (GRCm39)	C38S	probably benign	Het
Nup214	T	A	2: 31,923,362 (GRCm39)	L1297Q	possibly damaging	Het
Oasl2	C	A	5: 115,040,329 (GRCm39)		probably benign	Het
Or4a70	A	G	2: 89,324,132 (GRCm39)	F175L	probably damaging	Het
Or4c58	T	C	2: 89,675,273 (GRCm39)	N15D	probably benign	Het
Or51b4	A	G	7: 103,530,904 (GRCm39)	V182A	possibly damaging	Het
Or52a5	T	A	7: 103,427,547 (GRCm39)	I2F	probably benign	Het
Or5h24	T	C	16: 58,918,731 (GRCm39)	H208R	unknown	Het
Or8g4	T	C	9: 39,662,092 (GRCm39)	S137P	possibly damaging	Het
Pacrg	C	T	17: 10,795,496 (GRCm39)	V155I	probably benign	Het
Patz1	A	T	11: 3,257,658 (GRCm39)	M96L	probably benign	Het
Pcca	A	G	14: 122,875,794 (GRCm39)	D141G	probably benign	Het
Ptprr	A	G	10: 115,884,075 (GRCm39)	Y44C	probably damaging	Het
Rad51ap1	A	G	6: 126,911,675 (GRCm39)		probably null	Het
Raet1e	A	C	10: 22,057,198 (GRCm39)	D174A	probably damaging	Het
Rhobtb2	T	G	14: 70,034,214 (GRCm39)	D337A	probably benign	Het
Sbf2	T	C	7: 109,934,594 (GRCm39)	K1377E	probably damaging	Het
Sh3pxd2b	A	G	11: 32,361,567 (GRCm39)	K260E	probably damaging	Het
Slc4a8	A	T	15: 100,685,170 (GRCm39)	I234F	possibly damaging	Het
Srgap3	C	T	6: 112,716,325 (GRCm39)	R625H	probably benign	Het
Tbxas1	C	T	6: 39,004,830 (GRCm39)	T359I	probably benign	Het
Trim9	T	A	12: 70,337,161 (GRCm39)	S309C	probably benign	Het
Ttn	G	A	2: 76,659,483 (GRCm39)	P12191S	unknown	Het
Unc80	A	G	1: 66,522,463 (GRCm39)	R222G	possibly damaging	Het
Vmn1r202	A	T	13: 22,686,314 (GRCm39)	H34Q	possibly damaging	Het
Vmn2r61	T	A	7: 41,916,141 (GRCm39)	N251K	probably benign	Het
Vmn2r67	A	T	7: 84,785,924 (GRCm39)	Y694N	probably damaging	Het
Vwde	A	G	6: 13,205,782 (GRCm39)	F255S	probably benign	Het
Zfp532	T	G	18: 65,758,227 (GRCm39)	I720R	possibly damaging	Het
Zfp819	A	G	7: 43,267,319 (GRCm39)	T601A	probably benign	Het
Zfp853	G	T	5: 143,274,280 (GRCm39)	Q462K	unknown	Het

Other mutations in L3hypdh

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02152:L3hypdh	APN	12	72,123,917 (GRCm39)	critical splice donor site	probably null
IGL02718:L3hypdh	APN	12	72,131,630 (GRCm39)	missense	probably damaging	1.00
R0128:L3hypdh	UTSW	12	72,123,917 (GRCm39)	critical splice donor site	probably null
R1109:L3hypdh	UTSW	12	72,120,770 (GRCm39)	missense	possibly damaging	0.93
R1689:L3hypdh	UTSW	12	72,131,527 (GRCm39)	missense	probably damaging	1.00
R2080:L3hypdh	UTSW	12	72,126,301 (GRCm39)	missense	probably damaging	0.96
R2274:L3hypdh	UTSW	12	72,131,632 (GRCm39)	missense	possibly damaging	0.95
R4003:L3hypdh	UTSW	12	72,131,890 (GRCm39)	missense	probably benign	0.00
R4358:L3hypdh	UTSW	12	72,124,198 (GRCm39)	missense	probably damaging	1.00
R4760:L3hypdh	UTSW	12	72,124,016 (GRCm39)	missense	probably benign	0.05
R4825:L3hypdh	UTSW	12	72,124,167 (GRCm39)	missense	probably benign	0.00
R5926:L3hypdh	UTSW	12	72,123,959 (GRCm39)	missense	probably damaging	1.00
R7223:L3hypdh	UTSW	12	72,120,783 (GRCm39)	missense	possibly damaging	0.71
R7426:L3hypdh	UTSW	12	72,131,705 (GRCm39)	missense	probably damaging	1.00
R9429:L3hypdh	UTSW	12	72,124,203 (GRCm39)	missense	probably damaging	1.00
X0028:L3hypdh	UTSW	12	72,126,268 (GRCm39)	missense	probably benign	0.01

Predicted Primers

PCR Primer
(F):5'- TTCACACTCTACGAAGGCG -3'
(R):5'- TGAGATTGCCACCGGTTCTG -3'

Sequencing Primer
(F):5'- CAGTGGATGTTGACCTGAGCC -3'
(R):5'- TCCCTGGACGCAGACAATG -3'

Posted On

2020-01-23