Mutagenetix > Incidental Mutation

Incidental Mutation 'R1929:P4ha1'

215188

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

039947-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R1929 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

59159118-59209126 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 59206859 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 523 (E523G)

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: E523G

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

SMART Domains

Protein: ENSMUSP00000009789
Gene: ENSMUSG00000019916
AA Change: E523G

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

probably damaging
Transcript: ENSMUST00000092512
AA Change: E443G

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000090170
Gene: ENSMUSG00000019916
AA Change: E443G

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: E523G

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

SMART Domains

Protein: ENSMUSP00000101106
Gene: ENSMUSG00000019916
AA Change: E523G

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

0.2662

Coding Region Coverage

1x: 97.5%
3x: 96.9%
10x: 95.3%
20x: 92.4%

Validation Efficiency

98% (107/109)

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: 103 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adcy10	A	T	1: 165,337,866 (GRCm39)	E160V	probably damaging	Het
Amdhd2	T	C	17: 24,376,860 (GRCm39)		probably null	Het
Angel1	A	C	12: 86,749,093 (GRCm39)	L656V	probably damaging	Het
Ankrd12	G	A	17: 66,293,681 (GRCm39)	S584L	possibly damaging	Het
Apbb2	T	A	5: 66,464,958 (GRCm39)	N679Y	probably benign	Het
Arid3c	T	A	4: 41,724,744 (GRCm39)	I364F	probably damaging	Het
Bcan	T	A	3: 87,900,401 (GRCm39)	S611C	probably damaging	Het
Bnip3	T	G	7: 138,496,359 (GRCm39)		silent	Het
Btc	T	C	5: 91,510,260 (GRCm39)	Y111C	probably damaging	Het
Carnmt1	T	C	19: 18,680,734 (GRCm39)	L336P	probably damaging	Het
Ccdc83	C	T	7: 89,873,285 (GRCm39)	V357I	probably damaging	Het
Cd2bp2	T	C	7: 126,793,050 (GRCm39)	D324G	probably benign	Het
Cdc20b	A	G	13: 113,208,451 (GRCm39)	T216A	probably benign	Het
Cdk17	T	C	10: 93,064,540 (GRCm39)	Y270H	probably damaging	Het
Cenpv	T	C	11: 62,416,059 (GRCm39)	E230G	probably benign	Het
Chst11	T	C	10: 83,027,004 (GRCm39)	Y144H	probably damaging	Het
Cracr2a	T	A	6: 127,584,261 (GRCm39)	F107I	probably damaging	Het
Cyfip1	G	T	7: 55,549,705 (GRCm39)	R624L	probably null	Het
Cyp27b1	T	A	10: 126,884,181 (GRCm39)	V11D	probably damaging	Het
Ddc	T	C	11: 11,785,764 (GRCm39)	N308D	probably damaging	Het
Des	T	G	1: 75,340,137 (GRCm39)	M348R	probably damaging	Het
Dis3l	T	A	9: 64,238,165 (GRCm39)	D109V	probably damaging	Het
Dnah3	T	A	7: 119,574,352 (GRCm39)	I2136F	probably benign	Het
Dnah9	T	C	11: 65,867,224 (GRCm39)	S2785G	probably benign	Het
Dop1a	T	G	9: 86,376,471 (GRCm39)	V235G	probably damaging	Het
Dtx3l	A	T	16: 35,754,059 (GRCm39)	D182E	possibly damaging	Het
Efcab6	A	G	15: 83,777,163 (GRCm39)		probably benign	Het
Elac2	T	A	11: 64,870,015 (GRCm39)	S27T	probably benign	Het
Emsy	T	G	7: 98,275,830 (GRCm39)	K352N	probably damaging	Het
Erbb4	T	C	1: 68,238,047 (GRCm39)	N814S	probably damaging	Het
Fgd6	T	C	10: 93,880,868 (GRCm39)	V574A	probably benign	Het
Filip1	T	C	9: 79,727,212 (GRCm39)	E469G	probably damaging	Het
Fmo1	A	T	1: 162,661,424 (GRCm39)	D286E	probably damaging	Het
Fmo4	A	T	1: 162,626,616 (GRCm39)	I310N	possibly damaging	Het
Focad	A	G	4: 88,260,449 (GRCm39)	N902D	unknown	Het
Focad	A	G	4: 88,315,416 (GRCm39)	S1525G	probably benign	Het
Fras1	T	C	5: 96,815,296 (GRCm39)	W1338R	probably benign	Het
Fry	A	G	5: 150,324,389 (GRCm39)	I1151V	probably null	Het
Garin5b	T	A	7: 4,761,186 (GRCm39)	T509S	probably benign	Het
Gm10076	T	G	14: 105,919,304 (GRCm39)		noncoding transcript	Het
Gm5698	T	G	1: 31,017,042 (GRCm39)	D3A	probably damaging	Het
Gngt2	C	T	11: 95,735,972 (GRCm39)		probably benign	Het
Gsdma	T	C	11: 98,562,193 (GRCm39)		probably null	Het
Gtf2h3	A	T	5: 124,740,262 (GRCm39)		probably benign	Het
Hkdc1	T	C	10: 62,253,677 (GRCm39)	T35A	probably benign	Het
Irs1	T	C	1: 82,266,180 (GRCm39)	S679G	probably benign	Het
Itpr1	T	A	6: 108,470,716 (GRCm39)	C2214S	probably damaging	Het
Kcnh8	GAGACCAACGAGCAGCTGATGCTTCAGA	GAGA	17: 53,032,934 (GRCm39)	74	probably benign	Het
Kcnk16	A	G	14: 20,315,347 (GRCm39)	V72A	probably damaging	Het
Lipa	T	A	19: 34,488,290 (GRCm39)	R119*	probably null	Het
Matr3	T	A	18: 35,721,378 (GRCm39)		probably benign	Het
Med13l	T	G	5: 118,866,898 (GRCm39)	F651V	probably benign	Het
Mfsd11	T	C	11: 116,764,740 (GRCm39)	V388A	probably benign	Het
Mki67	C	T	7: 135,299,794 (GRCm39)	V1747I	possibly damaging	Het
Mms22l	T	C	4: 24,535,936 (GRCm39)		probably benign	Het
Msh5	A	G	17: 35,263,366 (GRCm39)	I154T	probably benign	Het
Myo5b	G	T	18: 74,866,996 (GRCm39)	L1382F	probably damaging	Het
Ncbp2	T	C	16: 31,775,769 (GRCm39)	Y138H	probably damaging	Het
Ndufv1	C	A	19: 4,058,347 (GRCm39)	R359L	probably benign	Het
Ntrk3	A	C	7: 78,166,471 (GRCm39)		probably null	Het
Or1e1c	T	A	11: 73,266,427 (GRCm39)	V287E	probably damaging	Het
Or4a15	A	G	2: 89,193,353 (GRCm39)	V140A	probably benign	Het
Or8b12i	T	A	9: 20,082,705 (GRCm39)	H54L	possibly damaging	Het
Per3	T	A	4: 151,103,342 (GRCm39)	Y530F	probably damaging	Het
Pes1	C	A	11: 3,919,524 (GRCm39)	L66I	probably damaging	Het
Pigr	G	A	1: 130,774,399 (GRCm39)		probably benign	Het
Pkd1l1	A	T	11: 8,786,197 (GRCm39)		probably benign	Het
Plch1	T	A	3: 63,651,956 (GRCm39)	K378N	probably damaging	Het
Plxnb1	T	C	9: 108,931,776 (GRCm39)		probably null	Het
Pramel22	G	A	4: 143,380,712 (GRCm39)	T437I	probably damaging	Het
Prkdc	A	G	16: 15,472,681 (GRCm39)		probably null	Het
Prrc1	G	T	18: 57,514,718 (GRCm39)	D312Y	probably damaging	Het
Psma5-ps	A	G	10: 85,149,595 (GRCm39)		noncoding transcript	Het
Rab3gap2	T	A	1: 185,015,739 (GRCm39)		probably null	Het
Rgs3	A	G	4: 62,620,384 (GRCm39)	I537V	probably damaging	Het
Rhobtb2	T	G	14: 70,033,893 (GRCm39)	D444A	probably damaging	Het
Rnf40	T	C	7: 127,190,956 (GRCm39)	S314P	probably damaging	Het
Rngtt	T	A	4: 33,500,302 (GRCm39)	C565*	probably null	Het
Samd3	A	G	10: 26,139,884 (GRCm39)		probably benign	Het
Sec61a2	A	G	2: 5,878,547 (GRCm39)		probably benign	Het
Serpina3m	G	A	12: 104,355,581 (GRCm39)	A83T	probably damaging	Het
Serpinb13	A	T	1: 106,926,756 (GRCm39)	I251L	possibly damaging	Het
Sez6	C	T	11: 77,863,758 (GRCm39)	T439I	probably damaging	Het
Shc1	G	A	3: 89,330,849 (GRCm39)	G91S	probably damaging	Het
Slc26a2	A	G	18: 61,331,650 (GRCm39)	C594R	possibly damaging	Het
Specc1l	C	T	10: 75,081,438 (GRCm39)	S278F	probably damaging	Het
Spg11	C	T	2: 121,890,688 (GRCm39)	V2044M	probably damaging	Het
Stx18	T	A	5: 38,285,383 (GRCm39)		probably null	Het
Suclg2	T	C	6: 95,566,075 (GRCm39)		probably benign	Het
Tlr4	A	T	4: 66,757,681 (GRCm39)	H158L	probably damaging	Het
Tmem131	A	G	1: 36,851,352 (GRCm39)	V966A	possibly damaging	Het
Tram1l1	T	A	3: 124,115,635 (GRCm39)	I265N	probably damaging	Het
Trim58	T	A	11: 58,531,493 (GRCm39)	F67Y	possibly damaging	Het
Ttc19	A	G	11: 62,172,650 (GRCm39)	Q74R	probably benign	Het
Usp7	T	C	16: 8,516,333 (GRCm39)	S649G	probably benign	Het
Vmn2r16	A	G	5: 109,487,124 (GRCm39)	Y115C	possibly damaging	Het
Zfp444	T	C	7: 6,192,554 (GRCm39)	C191R	probably damaging	Het
Zfp451	A	G	1: 33,821,274 (GRCm39)	F151L	probably damaging	Het
Zfp451	G	A	1: 33,822,937 (GRCm39)	P99S	probably benign	Het
Zfp729b	A	T	13: 67,740,352 (GRCm39)	C648S	probably damaging	Het
Zfp799	A	G	17: 33,040,777 (GRCm39)	Y58H	probably damaging	Het
Zfp804b	A	G	5: 6,819,748 (GRCm39)	V1069A	probably benign	Het
Zfp938	C	T	10: 82,061,381 (GRCm39)	G413D	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
R0282:P4ha1	UTSW	10	59,172,970 (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
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'- CCTGTAGCTCACTGTAAGCC -3'
(R):5'- CCACAAAATAAGTGATTGTCCACAG -3'

Sequencing Primer
(F):5'- CACTGTAAGCCTCACTAGGTGTAAG -3'
(R):5'- TTGTCCACAGGTGAGACATG -3'

Posted On

2014-07-14