Mutagenetix > Incidental Mutation

Incidental Mutation 'R0282:P4ha1'

37625

Institutional Source

Beutler Lab

Gene Symbol

P4ha1

Ensembl Gene

ENSMUSG00000019916

Gene Name

procollagen-proline, 2-oxoglutarate 4-dioxygenase (proline 4-hydroxylase), alpha 1 polypeptide

Synonyms

P4ha

MMRRC Submission

038504-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R0282 (G1)

Quality Score

179

Status

Validated

Chromosome

Chromosomal Location

59159118-59209126 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 59172970 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Methionine at position 23 (T23M)

Ref Sequence

ENSEMBL: ENSMUSP00000101106 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000009789] [ENSMUST00000092512] [ENSMUST00000105466]

AlphaFold

Q60715

Predicted Effect

probably damaging
Transcript: ENSMUST00000009789
AA Change: T23M

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000009789
Gene: ENSMUSG00000019916
AA Change: T23M

Domain	Start	End	E-Value	Type
signal peptide	1	17	N/A	INTRINSIC
Pfam:P4Ha_N	23	156	2e-47	PFAM
low complexity region	220	235	N/A	INTRINSIC
P4Hc	335	518	2.2e-74	SMART

Predicted Effect

possibly damaging
Transcript: ENSMUST00000092512
AA Change: T23M

PolyPhen 2 Score 0.909 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000090170
Gene: ENSMUSG00000019916
AA Change: T23M

Domain	Start	End	E-Value	Type
signal peptide	1	17	N/A	INTRINSIC
Pfam:P4Ha_N	23	156	7.4e-48	PFAM
P4Hc	255	438	1.2e-75	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000105466
AA Change: T23M

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000101106
Gene: ENSMUSG00000019916
AA Change: T23M

Domain	Start	End	E-Value	Type
signal peptide	1	17	N/A	INTRINSIC
Pfam:P4Ha_N	24	155	2.1e-42	PFAM
low complexity region	220	235	N/A	INTRINSIC
P4Hc	335	518	1.2e-75	SMART

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 99.2%
3x: 98.4%
10x: 96.6%
20x: 93.7%

Validation Efficiency

100% (72/72)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a component of prolyl 4-hydroxylase, a key enzyme in collagen synthesis composed of two identical alpha subunits and two beta subunits. The encoded protein is one of several different types of alpha subunits and provides the major part of the catalytic site of the active enzyme. In collagen and related proteins, prolyl 4-hydroxylase catalyzes the formation of 4-hydroxyproline that is essential to the proper three-dimensional folding of newly synthesized procollagen chains. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a null mutation display embryonic lethality during organogenesis, capillary ruptures, and impaired basement membrane formation. [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
Acsbg3	T	A	17: 57,192,169 (GRCm39)	Y577*	probably null	Het
Afap1l2	A	G	19: 56,904,653 (GRCm39)	S549P	possibly damaging	Het
Alcam	A	T	16: 52,116,104 (GRCm39)	C157S	probably damaging	Het
Aldh1a1	T	C	19: 20,606,413 (GRCm39)		probably benign	Het
Ano8	G	A	8: 71,933,258 (GRCm39)		probably benign	Het
Atr	T	C	9: 95,744,851 (GRCm39)	V56A	probably benign	Het
Aurkc	T	A	7: 7,005,427 (GRCm39)		probably null	Het
Bnip3	T	C	7: 138,499,759 (GRCm39)	D76G	probably damaging	Het
Cbr1	A	G	16: 93,407,022 (GRCm39)	E246G	possibly damaging	Het
Ccdc157	G	T	11: 4,096,708 (GRCm39)	A449D	probably damaging	Het
Ces3b	T	A	8: 105,810,483 (GRCm39)	V26D	probably benign	Het
Colgalt2	G	T	1: 152,384,312 (GRCm39)	A551S	possibly damaging	Het
Crk	G	T	11: 75,594,195 (GRCm39)	G261C	probably damaging	Het
Ctbp1	A	G	5: 33,408,200 (GRCm39)		probably null	Het
Ctnna1	G	A	18: 35,377,175 (GRCm39)	V572I	possibly damaging	Het
D430041D05Rik	T	C	2: 104,031,589 (GRCm39)	Y1669C	probably damaging	Het
Dnah8	T	C	17: 30,955,130 (GRCm39)	F2053S	probably damaging	Het
Dner	G	A	1: 84,383,686 (GRCm39)	T566M	probably damaging	Het
Dner	A	G	1: 84,423,101 (GRCm39)		probably benign	Het
Edrf1	T	C	7: 133,245,751 (GRCm39)	V223A	probably benign	Het
Fam169a	A	G	13: 97,234,223 (GRCm39)		probably benign	Het
Fbxl3	G	A	14: 103,332,661 (GRCm39)	H106Y	probably damaging	Het
Fiz1	A	G	7: 5,012,200 (GRCm39)	V106A	probably benign	Het
Gapvd1	T	A	2: 34,578,972 (GRCm39)	R654*	probably null	Het
Gm7589	G	A	9: 59,053,288 (GRCm39)		noncoding transcript	Het
Ifi202b	A	T	1: 173,804,926 (GRCm39)	S9T	probably benign	Het
Ipmk	G	C	10: 71,208,661 (GRCm39)	S149T	probably benign	Het
Irgm2	A	G	11: 58,110,345 (GRCm39)	E24G	probably benign	Het
Itga2b	A	C	11: 102,351,672 (GRCm39)	V551G	probably damaging	Het
Itgad	C	T	7: 127,789,150 (GRCm39)		probably benign	Het
Kcnh8	T	A	17: 53,032,879 (GRCm39)	F55L	probably damaging	Het
Kdr	G	A	5: 76,110,760 (GRCm39)		probably benign	Het
Krt35	T	C	11: 99,986,573 (GRCm39)	Y147C	probably damaging	Het
Lamc1	A	G	1: 153,131,058 (GRCm39)	F298L	probably benign	Het
Lrrk2	T	C	15: 91,662,617 (GRCm39)		probably benign	Het
Matn1	T	C	4: 130,673,238 (GRCm39)	S69P	probably damaging	Het
Micall1	G	T	15: 79,016,101 (GRCm39)		probably benign	Het
Msto1	A	G	3: 88,818,884 (GRCm39)	V257A	possibly damaging	Het
Mybpc3	G	C	2: 90,954,369 (GRCm39)		probably benign	Het
Mycn	A	G	12: 12,987,314 (GRCm39)	V361A	probably benign	Het
Myo10	A	G	15: 25,793,253 (GRCm39)	T1277A	probably damaging	Het
Myo3a	T	C	2: 22,250,409 (GRCm39)	I92T	probably benign	Het
Nup50l	T	C	6: 96,141,797 (GRCm39)	T416A	probably benign	Het
Or10g1	A	G	14: 52,647,720 (GRCm39)	V203A	possibly damaging	Het
Or2k2	A	G	4: 58,785,344 (GRCm39)	I126T	probably damaging	Het
Or4c104	G	A	2: 88,586,800 (GRCm39)	T73I	probably damaging	Het
Or56b1b	T	A	7: 108,164,684 (GRCm39)	Q106L	probably damaging	Het
Otog	C	T	7: 45,926,917 (GRCm39)	T1222I	possibly damaging	Het
Pld1	A	T	3: 28,132,422 (GRCm39)	I537F	probably benign	Het
Plekhn1	A	G	4: 156,312,780 (GRCm39)		probably benign	Het
Pxdn	C	A	12: 30,034,439 (GRCm39)	S8*	probably null	Het
Rnf135	A	T	11: 80,084,784 (GRCm39)	I186F	probably damaging	Het
Rock2	T	C	12: 17,027,887 (GRCm39)		probably benign	Het
Rph3a	C	A	5: 121,101,973 (GRCm39)	G88*	probably null	Het
Sarm1	G	A	11: 78,365,806 (GRCm39)	Q740*	probably null	Het
Setd1b	C	A	5: 123,299,080 (GRCm39)		probably benign	Het
Sidt1	A	G	16: 44,102,249 (GRCm39)	S304P	possibly damaging	Het
Slc2a4	A	T	11: 69,837,181 (GRCm39)	V85E	probably damaging	Het
Swi5	A	G	2: 32,170,766 (GRCm39)	Y54H	probably damaging	Het
Sycp1	A	G	3: 102,823,111 (GRCm39)		probably benign	Het
Tarm1	T	C	7: 3,546,006 (GRCm39)	Y87C	probably damaging	Het
Tmem67	G	A	4: 12,087,930 (GRCm39)	T72M	probably damaging	Het
Tor1a	A	G	2: 30,857,737 (GRCm39)	Y44H	possibly damaging	Het
Ttll5	T	C	12: 86,042,827 (GRCm39)	Y1128H	probably benign	Het
Usp40	G	A	1: 87,908,680 (GRCm39)		probably benign	Het
Vmn2r18	A	T	5: 151,508,668 (GRCm39)	M152K	probably benign	Het
Xirp2	T	A	2: 67,343,724 (GRCm39)	D1988E	probably damaging	Het
Zfp420	A	G	7: 29,575,105 (GRCm39)	I442V	probably benign	Het
Zyx	A	G	6: 42,332,939 (GRCm39)	E363G	probably damaging	Het

Other mutations in P4ha1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01068:P4ha1	APN	10	59,175,157 (GRCm39)	missense	probably damaging	1.00
IGL01820:P4ha1	APN	10	59,197,736 (GRCm39)	missense	probably damaging	1.00
IGL02340:P4ha1	APN	10	59,188,023 (GRCm39)	missense	probably benign	0.03
IGL02480:P4ha1	APN	10	59,179,574 (GRCm39)	missense	probably damaging	1.00
IGL02496:P4ha1	APN	10	59,206,824 (GRCm39)	critical splice acceptor site	probably null
PIT4453001:P4ha1	UTSW	10	59,186,294 (GRCm39)	missense	probably benign
R0149:P4ha1	UTSW	10	59,184,221 (GRCm39)	missense	probably damaging	1.00
R0265:P4ha1	UTSW	10	59,184,081 (GRCm39)	missense	probably damaging	1.00
R0432:P4ha1	UTSW	10	59,184,079 (GRCm39)	nonsense	probably null
R0683:P4ha1	UTSW	10	59,172,969 (GRCm39)	missense	probably benign	0.05
R1929:P4ha1	UTSW	10	59,206,859 (GRCm39)	missense	probably damaging	1.00
R5790:P4ha1	UTSW	10	59,190,184 (GRCm39)	missense	probably benign	0.07
R5858:P4ha1	UTSW	10	59,175,200 (GRCm39)	missense	probably damaging	1.00
R5955:P4ha1	UTSW	10	59,178,618 (GRCm39)	missense	probably benign	0.00
R6123:P4ha1	UTSW	10	59,186,349 (GRCm39)	missense	possibly damaging	0.80
R7237:P4ha1	UTSW	10	59,184,065 (GRCm39)	missense	probably benign
R7350:P4ha1	UTSW	10	59,186,240 (GRCm39)	missense	probably damaging	0.97
R7380:P4ha1	UTSW	10	59,186,273 (GRCm39)	missense	probably benign	0.28
R7583:P4ha1	UTSW	10	59,205,462 (GRCm39)	missense	probably benign	0.03
R8356:P4ha1	UTSW	10	59,191,185 (GRCm39)	missense	probably damaging	1.00
R8843:P4ha1	UTSW	10	59,205,455 (GRCm39)	missense	probably damaging	1.00
R8932:P4ha1	UTSW	10	59,175,130 (GRCm39)	missense	possibly damaging	0.95
R9081:P4ha1	UTSW	10	59,184,185 (GRCm39)	missense	probably damaging	1.00
R9153:P4ha1	UTSW	10	59,203,112 (GRCm39)	missense	probably damaging	0.98
X0062:P4ha1	UTSW	10	59,184,068 (GRCm39)	missense	possibly damaging	0.80

Predicted Primers

PCR Primer
(F):5'- TGCTCTGCTTGTGATAACGGGAAAAC -3'
(R):5'- GAGTGTATAACTACTGCCCACACTGC -3'

Sequencing Primer
(F):5'- GAAGTTTTTCTATAGTATGGAGCACC -3'
(R):5'- agacagacaccccagaaaag -3'

Posted On

2013-05-23