Mutagenetix > Incidental Mutation

Incidental Mutation 'R0432:P4ha1'

38843

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

038634-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R0432 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

59159118-59209126 bp(+) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

T to A at 59184079 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Stop codon at position 180 (Y180*)

Ref Sequence

ENSEMBL: ENSMUSP00000101106 (fasta)

Gene Model

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

AlphaFold

Q60715

Predicted Effect

probably null
Transcript: ENSMUST00000009789
AA Change: Y180*

SMART Domains

Protein: ENSMUSP00000009789
Gene: ENSMUSG00000019916
AA Change: Y180*

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 null
Transcript: ENSMUST00000105466
AA Change: Y180*

SMART Domains

Protein: ENSMUSP00000101106
Gene: ENSMUSG00000019916
AA Change: Y180*

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

0.9755

Coding Region Coverage

1x: 99.2%
3x: 98.3%
10x: 96.3%
20x: 92.9%

Validation Efficiency

99% (91/92)

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: 88 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310061I04Rik	A	G	17: 36,206,708 (GRCm39)	L110P	probably damaging	Het
4930522L14Rik	A	T	5: 109,884,785 (GRCm39)	C358S	probably damaging	Het
Abca8b	C	A	11: 109,870,841 (GRCm39)	V104F	possibly damaging	Het
Afap1l2	T	C	19: 56,905,551 (GRCm39)		probably benign	Het
Ahctf1	A	C	1: 179,611,726 (GRCm39)	I548R	probably damaging	Het
Alox12b	G	T	11: 69,060,382 (GRCm39)	G646V	probably damaging	Het
Aoah	C	T	13: 21,095,368 (GRCm39)		probably benign	Het
Arhgap39	C	T	15: 76,619,086 (GRCm39)	D833N	probably damaging	Het
Atxn1l	A	G	8: 110,458,325 (GRCm39)	W646R	probably damaging	Het
Cabp2	T	C	19: 4,134,903 (GRCm39)	I28T	possibly damaging	Het
Cacna1b	G	A	2: 24,577,716 (GRCm39)	T719I	probably damaging	Het
Camk1d	A	T	2: 5,449,946 (GRCm39)	H70Q	probably damaging	Het
Car1	T	C	3: 14,835,236 (GRCm39)	T170A	probably benign	Het
Ccdc162	T	C	10: 41,417,856 (GRCm39)	T2113A	probably benign	Het
Cdc5l	G	A	17: 45,726,610 (GRCm39)	R321W	probably damaging	Het
Cdh17	T	A	4: 11,771,273 (GRCm39)	C18*	probably null	Het
Cdk17	A	T	10: 93,073,652 (GRCm39)		probably benign	Het
Chd9	T	A	8: 91,721,078 (GRCm39)		probably benign	Het
Chrm5	T	A	2: 112,310,000 (GRCm39)	K372M	possibly damaging	Het
Clasp2	A	G	9: 113,738,487 (GRCm39)	T423A	probably benign	Het
Col11a1	A	G	3: 113,999,550 (GRCm39)		probably benign	Het
Col27a1	T	C	4: 63,143,848 (GRCm39)	M512T	possibly damaging	Het
Dclk3	A	G	9: 111,314,003 (GRCm39)	D693G	probably damaging	Het
Dcun1d3	T	A	7: 119,457,173 (GRCm39)	K180*	probably null	Het
Dmxl2	T	C	9: 54,324,235 (GRCm39)	R876G	probably benign	Het
Dnmbp	A	T	19: 43,843,296 (GRCm39)	Y432*	probably null	Het
Elapor2	G	T	5: 9,490,966 (GRCm39)	G659*	probably null	Het
Eml2	C	T	7: 18,913,456 (GRCm39)	Q125*	probably null	Het
Faap100	A	C	11: 120,264,702 (GRCm39)		probably benign	Het
Foxp2	T	C	6: 15,254,278 (GRCm39)		probably benign	Het
Gda	A	G	19: 21,394,471 (GRCm39)	Y129H	probably damaging	Het
Gga3	G	A	11: 115,481,350 (GRCm39)	R207C	probably damaging	Het
Glg1	T	C	8: 111,909,201 (GRCm39)	I496M	probably damaging	Het
Glt6d1	C	A	2: 25,684,739 (GRCm39)		probably null	Het
Gm10322	A	T	10: 59,452,030 (GRCm39)	H49L	possibly damaging	Het
Golga5	G	T	12: 102,442,467 (GRCm39)	V269F	possibly damaging	Het
Gramd2b	G	A	18: 56,607,141 (GRCm39)	C85Y	probably benign	Het
Grhl1	C	T	12: 24,632,918 (GRCm39)	P153L	probably benign	Het
Hdac9	T	C	12: 34,487,221 (GRCm39)	Q60R	probably damaging	Het
Hdlbp	T	C	1: 93,353,054 (GRCm39)	I414V	probably damaging	Het
Itpk1	C	T	12: 102,572,337 (GRCm39)		probably benign	Het
Itsn1	T	A	16: 91,612,408 (GRCm39)	Y266N	probably damaging	Het
Lipe	G	A	7: 25,097,913 (GRCm39)	P10L	probably benign	Het
Lrrc8a	A	G	2: 30,147,079 (GRCm39)	E631G	probably damaging	Het
Lvrn	T	A	18: 47,038,366 (GRCm39)	N973K	possibly damaging	Het
Man2c1	T	A	9: 57,042,881 (GRCm39)	H250Q	probably damaging	Het
Mup3	T	C	4: 62,003,519 (GRCm39)	T117A	probably benign	Het
Myo6	A	C	9: 80,181,256 (GRCm39)		probably benign	Het
Nbn	T	A	4: 15,983,951 (GRCm39)		probably benign	Het
Ncapg	T	A	5: 45,829,770 (GRCm39)	N157K	probably damaging	Het
Or4p7	C	T	2: 88,222,377 (GRCm39)	T262I	probably damaging	Het
Or5an1	T	A	19: 12,261,267 (GRCm39)	M285K	probably damaging	Het
Or5m12	T	A	2: 85,734,501 (GRCm39)	N299I	probably damaging	Het
Or5w14	G	A	2: 87,541,774 (GRCm39)	H159Y	probably benign	Het
Or9m1	T	C	2: 87,733,304 (GRCm39)	T239A	probably damaging	Het
Pcdhb19	T	A	18: 37,632,588 (GRCm39)	F794L	probably benign	Het
Pdxdc1	T	A	16: 13,672,264 (GRCm39)	I379F	probably damaging	Het
Psme3	T	A	11: 101,211,268 (GRCm39)	S185T	possibly damaging	Het
Ptgr1	A	G	4: 58,978,045 (GRCm39)	S116P	probably damaging	Het
Ptpn23	A	T	9: 110,218,078 (GRCm39)		probably null	Het
Rabgap1l	A	C	1: 160,549,775 (GRCm39)	I277R	probably benign	Het
Rapgef1	C	T	2: 29,569,828 (GRCm39)	T93I	possibly damaging	Het
Rbp3	A	T	14: 33,676,730 (GRCm39)	D226V	probably damaging	Het
Rnf144a	A	T	12: 26,389,328 (GRCm39)	C38S	probably damaging	Het
Rptor	C	T	11: 119,671,379 (GRCm39)	Q281*	probably null	Het
Rragd	T	C	4: 33,004,332 (GRCm39)	L208S	probably damaging	Het
Slc12a4	T	C	8: 106,686,120 (GRCm39)	E41G	probably damaging	Het
Slc16a1	G	T	3: 104,560,735 (GRCm39)	V347F	probably benign	Het
Slit1	G	A	19: 41,731,732 (GRCm39)	T39I	probably damaging	Het
Sra1	T	C	18: 36,810,556 (GRCm39)	N98S	probably benign	Het
Ssx2ip	T	C	3: 146,132,184 (GRCm39)	L215P	probably damaging	Het
Syne2	A	T	12: 75,995,838 (GRCm39)	H2126L	probably damaging	Het
Tep1	TTTCTTCTTCTT	TTTCTTCTT	14: 51,104,280 (GRCm39)		probably benign	Het
Tgfbi	T	C	13: 56,780,004 (GRCm39)		probably benign	Het
Tmem232	T	C	17: 65,563,498 (GRCm39)	M632V	probably damaging	Het
Tmem81	C	G	1: 132,435,567 (GRCm39)	I124M	probably damaging	Het
Tnnt3	T	G	7: 142,065,823 (GRCm39)	D153E	probably benign	Het
Tnrc6b	T	A	15: 80,807,647 (GRCm39)		probably benign	Het
Tpsab1	A	G	17: 25,562,798 (GRCm39)		probably benign	Het
Usp34	T	A	11: 23,351,505 (GRCm39)	V1431D	probably damaging	Het
Wdr49	G	T	3: 75,357,329 (GRCm39)	R285S	possibly damaging	Het
Wdr7	A	G	18: 63,929,320 (GRCm39)	Y1052C	probably damaging	Het
Zan	A	T	5: 137,380,578 (GRCm39)		probably benign	Het
Zfp652	G	A	11: 95,654,565 (GRCm39)	V323I	possibly damaging	Het
Zfp740	A	G	15: 102,121,094 (GRCm39)	T136A	possibly damaging	Het
Zfp82	C	T	7: 29,755,754 (GRCm39)	E443K	probably damaging	Het
Zfp874b	A	G	13: 67,629,955 (GRCm39)	S10P	probably damaging	Het
Zmynd19	A	G	2: 24,848,134 (GRCm39)	Y110C	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
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'- TGATGAATCTTGTGACTTCCTGCCG -3'
(R):5'- TCAGGCCAGATAACAGACCTAGCTC -3'

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

Posted On

2013-05-23