Mutagenetix > Incidental Mutation

Incidental Mutation 'R8356:P4ha1'

660349

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

067870-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R8356 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

59159118-59209126 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 59191185 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Isoleucine at position 364 (T364I)

Ref Sequence

ENSEMBL: ENSMUSP00000101106 (fasta)

Gene Model

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

AlphaFold

Q60715

Predicted Effect

probably benign
Transcript: ENSMUST00000009789

SMART Domains

Protein: ENSMUSP00000009789
Gene: ENSMUSG00000019916

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: T284I

PolyPhen 2 Score 0.693 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000090170
Gene: ENSMUSG00000019916
AA Change: T284I

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: T364I

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

SMART Domains

Protein: ENSMUSP00000101106
Gene: ENSMUSG00000019916
AA Change: T364I

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

0.4314

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.1%

Validation Efficiency

100% (58/58)

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: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700069L16Rik	T	A	5: 113,861,868 (GRCm39)	M1L	unknown	Het
Abcc9	A	T	6: 142,536,096 (GRCm39)	M1546K	probably benign	Het
Acbd3	T	C	1: 180,553,881 (GRCm39)	M72T	probably benign	Het
Adam6a	T	G	12: 113,509,757 (GRCm39)	L710R	probably benign	Het
Aldh4a1	T	C	4: 139,365,833 (GRCm39)	S275P	probably benign	Het
Ap3d1	A	T	10: 80,568,737 (GRCm39)	L47Q	probably damaging	Het
Arhgap19	G	A	19: 41,762,615 (GRCm39)	R414C	probably damaging	Het
Ascc3	T	C	10: 50,526,003 (GRCm39)	S572P	probably benign	Het
Cdk10	G	A	8: 123,955,096 (GRCm39)	R78H	probably benign	Het
Celsr2	C	T	3: 108,320,847 (GRCm39)	R655H	possibly damaging	Het
Cntnap2	T	A	6: 47,026,307 (GRCm39)	H44Q	probably benign	Het
Cpped1	A	T	16: 11,712,793 (GRCm39)	C32*	probably null	Het
Ddi1	A	G	9: 6,266,249 (GRCm39)	V40A	probably benign	Het
Ddx50	T	C	10: 62,457,287 (GRCm39)	T588A	probably benign	Het
Degs2	A	G	12: 108,658,223 (GRCm39)	I252T	possibly damaging	Het
Dnah1	C	T	14: 30,994,972 (GRCm39)	V2762I	probably benign	Het
Dnah5	A	G	15: 28,444,313 (GRCm39)	D4037G	probably benign	Het
Dnah5	C	T	15: 28,444,469 (GRCm39)	A4089V	probably null	Het
Dthd1	A	T	5: 63,007,081 (GRCm39)	D594V	probably damaging	Het
Ehmt1	A	T	2: 24,742,781 (GRCm39)	M466K	probably benign	Het
Erich2	A	T	2: 70,357,873 (GRCm39)		probably null	Het
Fam221b	T	C	4: 43,665,519 (GRCm39)	D313G	probably benign	Het
Fbxl22	T	C	9: 66,421,732 (GRCm39)	D35G	possibly damaging	Het
Ggcx	A	G	6: 72,406,574 (GRCm39)	E679G	probably benign	Het
Gm14295	A	G	2: 176,501,307 (GRCm39)	T266A	probably benign	Het
Hnrnpa1	A	G	15: 103,150,529 (GRCm39)	D160G	probably null	Het
Hnrnpul1	T	C	7: 25,422,247 (GRCm39)		probably benign	Het
Hydin	A	G	8: 111,259,756 (GRCm39)	E2576G	possibly damaging	Het
Ifit2	T	A	19: 34,550,908 (GRCm39)	C149*	probably null	Het
Il18rap	T	A	1: 40,564,084 (GRCm39)	S67R	probably benign	Het
Kcnk4	T	G	19: 6,903,668 (GRCm39)	S294R	probably benign	Het
Kif21b	A	G	1: 136,100,683 (GRCm39)	H1588R	probably damaging	Het
Klhl35	A	T	7: 99,122,129 (GRCm39)	S77C	probably damaging	Het
Lats2	A	T	14: 57,934,867 (GRCm39)	M228K	probably damaging	Het
Lrfn4	T	C	19: 4,662,256 (GRCm39)	D587G	probably benign	Het
Lrrd1	C	A	5: 3,916,509 (GRCm39)	T842K	probably benign	Het
Mafb	G	A	2: 160,208,125 (GRCm39)	H158Y	probably benign	Het
Mapk8ip3	T	A	17: 25,123,925 (GRCm39)	E561D	probably damaging	Het
Mcemp1	A	G	8: 3,717,542 (GRCm39)	T158A	probably damaging	Het
Mst1r	A	T	9: 107,794,463 (GRCm39)	E1214V	probably damaging	Het
Muc16	A	G	9: 18,570,074 (GRCm39)	I815T	unknown	Het
Ncoa6	T	A	2: 155,248,172 (GRCm39)	I1711L	possibly damaging	Het
Neo1	G	A	9: 58,785,402 (GRCm39)	T1408M	probably damaging	Het
Niban1	T	A	1: 151,571,901 (GRCm39)	V282D	probably damaging	Het
Nnt	A	C	13: 119,476,368 (GRCm39)	F632C	probably damaging	Het
Nup210	G	A	6: 91,051,330 (GRCm39)	T351I	probably benign	Het
Or4f59	A	G	2: 111,872,943 (GRCm39)	S145P	probably damaging	Het
Or52e18	A	G	7: 104,609,934 (GRCm39)	S2P	probably benign	Het
Pcdhb11	T	A	18: 37,555,252 (GRCm39)	L194Q	probably damaging	Het
Pramel52-ps	A	G	5: 94,531,703 (GRCm39)	K196E	probably damaging	Het
Rad51ap1	A	G	6: 126,901,879 (GRCm39)		probably null	Het
Rbm11	G	A	16: 75,397,694 (GRCm39)	R208K	probably benign	Het
Rps6ka1	T	A	4: 133,587,368 (GRCm39)	Q535L	possibly damaging	Het
Slc26a3	A	G	12: 31,516,505 (GRCm39)	D621G	probably benign	Het
Sox10	T	G	15: 79,040,652 (GRCm39)	E296A	probably damaging	Het
St3gal4	A	C	9: 34,964,438 (GRCm39)	V188G	probably damaging	Het
Trim34a	A	T	7: 103,910,178 (GRCm39)	I327F	probably damaging	Het
Ttc28	G	A	5: 111,381,207 (GRCm39)	D1240N	probably benign	Het
Zc2hc1c	A	G	12: 85,337,471 (GRCm39)	E376G	probably damaging	Het
Zfp423	G	A	8: 88,509,910 (GRCm39)	P77S	probably damaging	Het
Zfp560	A	T	9: 20,260,231 (GRCm39)	S210R	probably benign	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
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
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'- TTCTCTCCGGACGAACGAAC -3'
(R):5'- GGTCCATCGTGAAAATCAAGTAC -3'

Sequencing Primer
(F):5'- AACGAACGAGTGGCTCTTC -3'
(R):5'- GTACACATACCAAAAGCTTGATCTG -3'

Posted On

2021-01-18