Mutagenetix > Incidental Mutation

Incidental Mutation 'R2080:L3hypdh'

229432

Institutional Source

Beutler Lab

Gene Symbol

L3hypdh

Ensembl Gene

ENSMUSG00000019718

Gene Name

L-3-hydroxyproline dehydratase (trans-)

Synonyms

2810055F11Rik

MMRRC Submission

040085-MU

Accession Numbers

Essential gene?

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

Stock #

R2080 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

72120202-72132213 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 72126301 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Glutamic Acid at position 213 (V213E)

Ref Sequence

ENSEMBL: ENSMUSP00000019862 (fasta)

Gene Model

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

AlphaFold

Q9CXA2

Predicted Effect

probably damaging
Transcript: ENSMUST00000019862
AA Change: V213E

PolyPhen 2 Score 0.961 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000019862
Gene: ENSMUSG00000019718
AA Change: V213E

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000124405

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000138029

Meta Mutation Damage Score

0.5622

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.2%
20x: 94.7%

Validation Efficiency

100% (55/55)

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: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310003L06Rik	A	T	5: 88,119,792 (GRCm39)	D183V	probably damaging	Het
Ambra1	T	A	2: 91,716,064 (GRCm39)	D858E	probably damaging	Het
Amdhd2	T	C	17: 24,375,578 (GRCm39)	T370A	probably benign	Het
Amy1	A	G	3: 113,351,743 (GRCm39)	W449R	probably benign	Het
Aox3	A	T	1: 58,225,439 (GRCm39)	I1179F	probably benign	Het
Atp10a	C	A	7: 58,474,075 (GRCm39)	Q1121K	probably damaging	Het
Btaf1	C	T	19: 36,928,548 (GRCm39)	A123V	probably benign	Het
Car6	T	C	4: 150,282,598 (GRCm39)	K16E	probably benign	Het
Cgnl1	C	T	9: 71,563,378 (GRCm39)	D779N	probably benign	Het
Cyp2a4	G	A	7: 26,007,962 (GRCm39)	R123Q	possibly damaging	Het
D430041D05Rik	C	T	2: 103,987,161 (GRCm39)	R1895Q	probably damaging	Het
D5Ertd579e	T	A	5: 36,773,550 (GRCm39)	T282S	probably benign	Het
Dsel	T	C	1: 111,787,692 (GRCm39)	T948A	probably benign	Het
Ednrb	A	T	14: 104,080,536 (GRCm39)	I126N	probably damaging	Het
Egln1	A	G	8: 125,675,045 (GRCm39)	M250T	probably benign	Het
Epb41l3	A	T	17: 69,560,463 (GRCm39)	I337L	possibly damaging	Het
Epg5	T	C	18: 77,991,960 (GRCm39)	I219T	probably benign	Het
Gm13030	T	C	4: 138,600,730 (GRCm39)		probably benign	Het
Gm1527	T	A	3: 28,980,810 (GRCm39)	C637S	probably benign	Het
H1f1	A	G	13: 23,947,932 (GRCm39)	N78S	possibly damaging	Het
Insrr	T	C	3: 87,721,598 (GRCm39)	I1168T	possibly damaging	Het
Ireb2	T	C	9: 54,803,836 (GRCm39)	V509A	possibly damaging	Het
Kmt2c	T	C	5: 25,559,715 (GRCm39)	D981G	probably damaging	Het
Ktn1	A	G	14: 47,963,417 (GRCm39)	E1164G	probably damaging	Het
Masp1	T	G	16: 23,310,709 (GRCm39)	D241A	probably damaging	Het
Mfsd13b	A	G	7: 120,591,047 (GRCm39)	I1V	probably null	Het
Muc5b	T	C	7: 141,423,491 (GRCm39)	V4531A	probably benign	Het
Myh2	A	T	11: 67,065,767 (GRCm39)		probably null	Het
Naip5	A	G	13: 100,358,041 (GRCm39)	L1065P	probably damaging	Het
Necab1	T	C	4: 15,140,219 (GRCm39)		probably benign	Het
Nemf	A	G	12: 69,400,560 (GRCm39)		probably benign	Het
Nfil3	A	T	13: 53,122,069 (GRCm39)	D278E	possibly damaging	Het
Nup98	T	C	7: 101,829,631 (GRCm39)	N393S	probably damaging	Het
Ogdh	T	A	11: 6,299,393 (GRCm39)	M753K	probably benign	Het
Or13c3	T	C	4: 52,855,568 (GRCm39)	Y315C	probably benign	Het
Or2b6	A	T	13: 21,823,606 (GRCm39)	V29E	probably damaging	Het
Or4k47	C	T	2: 111,452,084 (GRCm39)	V112M	probably benign	Het
Or51f5	T	C	7: 102,424,450 (GRCm39)	F240L	probably benign	Het
Or8b42	T	A	9: 38,342,378 (GRCm39)	S267T	probably benign	Het
Pkd2	A	G	5: 104,624,989 (GRCm39)	K262E	probably benign	Het
Plce1	C	T	19: 38,715,457 (GRCm39)		probably benign	Het
Ppm1f	T	A	16: 16,741,744 (GRCm39)	M406K	possibly damaging	Het
Ptgs1	C	T	2: 36,132,859 (GRCm39)	Q286*	probably null	Het
Scube2	T	C	7: 109,407,712 (GRCm39)	T743A	possibly damaging	Het
Tipin	T	A	9: 64,197,658 (GRCm39)	L69*	probably null	Het
Tlk1	T	A	2: 70,568,789 (GRCm39)	K404N	probably damaging	Het
Tmem59	C	A	4: 107,035,971 (GRCm39)	L16I	probably damaging	Het
Utrn	T	C	10: 12,612,826 (GRCm39)	E426G	probably benign	Het
Xdh	A	T	17: 74,216,320 (GRCm39)	S709T	probably damaging	Het
Yjefn3	T	C	8: 70,342,137 (GRCm39)	N28D	probably damaging	Het
Zfp598	A	C	17: 24,898,641 (GRCm39)	D480A	probably damaging	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
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
R8026:L3hypdh	UTSW	12	72,131,723 (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'- ATGTTTTCAGTGTCAAAGCTGGAAC -3'
(R):5'- CGGAATTAACGCAATGTGATGTG -3'

Sequencing Primer
(F):5'- GCTGGAACTCACAAGGGTC -3'
(R):5'- ACATTGCATATGGTGGGG -3'

Posted On

2014-09-17