Mutagenetix > Incidental Mutation

Incidental Mutation 'R0265:P4ha1'

34864

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

038491-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R0265 (G1)

Quality Score

162

Status

Validated

Chromosome

Chromosomal Location

59323296-59373304 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 59348259 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 181 (Y181C)

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: Y181C

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

SMART Domains

Protein: ENSMUSP00000009789
Gene: ENSMUSG00000019916
AA Change: Y181C

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 benign
Transcript: ENSMUST00000092512

SMART Domains

Protein: ENSMUSP00000090170
Gene: ENSMUSG00000019916

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: Y181C

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

SMART Domains

Protein: ENSMUSP00000101106
Gene: ENSMUSG00000019916
AA Change: Y181C

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

0.8566

Coding Region Coverage

1x: 98.5%
3x: 97.4%
10x: 95.6%
20x: 92.0%

Validation Efficiency

99% (83/84)

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: 82 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930452B06Rik	T	G	14: 8,431,667	Y655S	probably damaging	Het
9330182L06Rik	T	C	5: 9,434,681	L486P	probably damaging	Het
Abca14	A	G	7: 120,223,627	I321V	probably benign	Het
Adcy7	A	G	8: 88,324,763	D837G	probably damaging	Het
Aldh1a1	T	A	19: 20,640,076	Y457*	probably null	Het
Alox5	T	C	6: 116,420,362	Y287C	probably benign	Het
Ano8	T	C	8: 71,480,524		probably benign	Het
Ap3b1	A	G	13: 94,493,681	K815E	unknown	Het
Atp11a	A	T	8: 12,856,930		probably benign	Het
Atp6v0a1	A	T	11: 101,048,515	D702V	possibly damaging	Het
Cacna1b	T	A	2: 24,761,844	N108Y	probably damaging	Het
Ccdc57	G	C	11: 120,921,811	A39G	probably benign	Het
Cdhr1	A	T	14: 37,081,376	V581D	probably benign	Het
Cyp2b23	A	G	7: 26,672,879		probably benign	Het
D430041D05Rik	G	C	2: 104,167,950	P1836R	probably damaging	Het
Ddit4l	C	T	3: 137,624,287		probably benign	Het
Dnah8	A	T	17: 30,690,271	I1024F	probably benign	Het
Edc3	T	A	9: 57,727,338	F213I	probably damaging	Het
Edrf1	G	A	7: 133,657,045	D717N	probably damaging	Het
Efna5	G	A	17: 62,651,073	P63S	probably damaging	Het
Entpd3	A	G	9: 120,558,481	Y248C	probably damaging	Het
Flcn	G	A	11: 59,795,809	Q373*	probably null	Het
Fry	T	C	5: 150,434,776	V1908A	probably damaging	Het
Gabrg3	A	T	7: 57,381,617	Y58*	probably null	Het
Gabrp	A	T	11: 33,552,614	Y417N	probably damaging	Het
Golga2	C	A	2: 32,304,952		probably null	Het
Grip2	C	A	6: 91,773,792		probably null	Het
Gsx2	A	G	5: 75,077,068	Y227C	probably damaging	Het
Hif3a	T	C	7: 17,035,868	*665W	probably null	Het
Hist1h2aa	T	C	13: 23,934,649	V63A	probably benign	Het
Hsd3b1	C	A	3: 98,852,773	V301L	probably damaging	Het
Ifitm5	T	C	7: 140,950,008		probably benign	Het
Inpp4a	A	T	1: 37,378,986	D498V	probably damaging	Het
Itga1	A	T	13: 114,992,459	D554E	probably benign	Het
Itk	G	A	11: 46,389,458		probably benign	Het
Kdm3b	T	A	18: 34,795,663		probably benign	Het
Klhl6	A	G	16: 19,948,234	V470A	probably benign	Het
Lamb3	T	A	1: 193,320,531	W95R	probably damaging	Het
Lbhd2	T	A	12: 111,410,242	I41N	probably damaging	Het
Lrp4	A	T	2: 91,490,670	S1014C	probably damaging	Het
Ltbp2	C	T	12: 84,785,969		probably null	Het
Map3k19	A	G	1: 127,822,182	I1144T	possibly damaging	Het
Mfsd10	T	C	5: 34,635,163		probably benign	Het
Mocos	A	G	18: 24,666,276	D189G	probably benign	Het
Mvb12a	T	A	8: 71,547,010	F224L	probably damaging	Het
Myo15	A	T	11: 60,514,897		probably null	Het
Nos2	A	T	11: 78,937,602	H249L	probably damaging	Het
Notum	A	G	11: 120,658,334	M184T	probably benign	Het
Nvl	C	A	1: 181,134,830	D192Y	probably damaging	Het
Olfr1024	T	A	2: 85,904,247	N269I	probably benign	Het
Olfr1065	C	A	2: 86,445,959	V8L	probably benign	Het
Olfr1308	T	C	2: 111,960,494	Y193C	probably damaging	Het
Olfr204	A	T	16: 59,315,071	F112Y	probably damaging	Het
Olfr218	A	G	1: 173,203,917	K187R	probably benign	Het
Osgin1	A	G	8: 119,445,657	I397V	possibly damaging	Het
Otulin	A	G	15: 27,616,424	V123A	probably damaging	Het
Pcdhgc5	A	T	18: 37,821,350	D559V	probably damaging	Het
Phf2	T	C	13: 48,828,794	N151S	unknown	Het
Plxnc1	C	A	10: 94,813,129	G1263C	probably benign	Het
Rad51ap1	A	G	6: 126,924,197	*338Q	probably null	Het
Raver1	A	G	9: 21,075,659	S676P	probably benign	Het
Rfx8	T	C	1: 39,688,577	E196G	possibly damaging	Het
Rreb1	A	T	13: 37,916,155	K187*	probably null	Het
Rxfp1	T	C	3: 79,667,654	T217A	probably benign	Het
Rxra	T	C	2: 27,752,430	L305P	probably damaging	Het
Sardh	T	C	2: 27,227,066		probably benign	Het
Skor2	A	T	18: 76,876,598	E952D	probably damaging	Het
Slc22a29	A	T	19: 8,169,970	S343T	probably benign	Het
Sorbs2	T	C	8: 45,785,337		probably benign	Het
Supt7l	C	T	5: 31,515,918	V329I	probably benign	Het
Taar2	G	A	10: 23,941,495	R311H	probably benign	Het
Tac1	T	C	6: 7,559,165		probably benign	Het
Tcn2	A	T	11: 3,922,044	V361D	probably damaging	Het
Tm2d3	G	A	7: 65,697,834	A170T	possibly damaging	Het
Tnks	G	A	8: 34,839,970	R1142*	probably null	Het
Ttll7	C	A	3: 146,944,160	Y648*	probably null	Het
Umod	G	T	7: 119,466,073	Q578K	probably benign	Het
Upf2	G	A	2: 6,027,204		probably benign	Het
Vmn2r92	C	T	17: 18,167,957	A408V	probably damaging	Het
Washc5	A	G	15: 59,338,960	I1013T	probably benign	Het
Wdr60	T	C	12: 116,257,406		probably benign	Het
Zfp704	C	A	3: 9,565,157	R48L	probably damaging	Het

Other mutations in P4ha1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01068:P4ha1	APN	10	59339335	missense	probably damaging	1.00
IGL01820:P4ha1	APN	10	59361914	missense	probably damaging	1.00
IGL02340:P4ha1	APN	10	59352201	missense	probably benign	0.03
IGL02480:P4ha1	APN	10	59343752	missense	probably damaging	1.00
IGL02496:P4ha1	APN	10	59371002	critical splice acceptor site	probably null
PIT4453001:P4ha1	UTSW	10	59350472	missense	probably benign
R0149:P4ha1	UTSW	10	59348399	missense	probably damaging	1.00
R0282:P4ha1	UTSW	10	59337148	missense	probably damaging	1.00
R0432:P4ha1	UTSW	10	59348257	nonsense	probably null
R0683:P4ha1	UTSW	10	59337147	missense	probably benign	0.05
R1929:P4ha1	UTSW	10	59371037	missense	probably damaging	1.00
R5790:P4ha1	UTSW	10	59354362	missense	probably benign	0.07
R5858:P4ha1	UTSW	10	59339378	missense	probably damaging	1.00
R5955:P4ha1	UTSW	10	59342796	missense	probably benign	0.00
R6123:P4ha1	UTSW	10	59350527	missense	possibly damaging	0.80
R7237:P4ha1	UTSW	10	59348243	missense	probably benign
R7350:P4ha1	UTSW	10	59350418	missense	probably damaging	0.97
R7380:P4ha1	UTSW	10	59350451	missense	probably benign	0.28
R7583:P4ha1	UTSW	10	59369640	missense	probably benign	0.03
R8356:P4ha1	UTSW	10	59355363	missense	probably damaging	1.00
R8843:P4ha1	UTSW	10	59369633	missense	probably damaging	1.00
R8932:P4ha1	UTSW	10	59339308	missense	possibly damaging	0.95
R9081:P4ha1	UTSW	10	59348363	missense	probably damaging	1.00
R9153:P4ha1	UTSW	10	59367290	missense	probably damaging	0.98
X0062:P4ha1	UTSW	10	59348246	missense	possibly damaging	0.80

Predicted Primers

PCR Primer
(F):5'- AATCTTGTGACTTCCTGCCGAGC -3'
(R):5'- AGTCAGGCCAGATAACAGACCTAGC -3'

Sequencing Primer
(F):5'- actgcctgcctttgcttc -3'
(R):5'- AGATAACAGACCTAGCTCAAGAAG -3'

Posted On

2013-05-09