Mutagenetix > Incidental Mutation

Incidental Mutation 'R1556:P4ha2'

170282

Institutional Source

Beutler Lab

Gene Symbol

P4ha2

Ensembl Gene

ENSMUSG00000018906

Gene Name

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

Synonyms

P4hl

MMRRC Submission

039595-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.366) question?

Stock #

R1556 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

53991750-54022494 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 54015836 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 408 (T408A)

Ref Sequence

ENSEMBL: ENSMUSP00000133275 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000019050] [ENSMUST00000093107] [ENSMUST00000141258] [ENSMUST00000174616]

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000019050
AA Change: T408A

PolyPhen 2 Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000019050
Gene: ENSMUSG00000018906
AA Change: T408A

Domain	Start	End	E-Value	Type
signal peptide	1	19	N/A	INTRINSIC
Pfam:P4Ha_N	28	159	2.6e-40	PFAM
SCOP:d1qqea_	171	258	1e-3	SMART
Blast:P4Hc	232	303	4e-13	BLAST
P4Hc	338	521	1.61e-67	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000093107
AA Change: T408A

PolyPhen 2 Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000091749
Gene: ENSMUSG00000018906
AA Change: T408A

Domain	Start	End	E-Value	Type
signal peptide	1	19	N/A	INTRINSIC
Pfam:P4Ha_N	27	160	6.3e-44	PFAM
SCOP:d1qqea_	171	258	1e-3	SMART
P4Hc	338	519	7.67e-65	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000125651

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000139315

Predicted Effect

probably benign
Transcript: ENSMUST00000141258

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000142583

Predicted Effect

probably damaging
Transcript: ENSMUST00000174616
AA Change: T408A

PolyPhen 2 Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000133275
Gene: ENSMUSG00000018906
AA Change: T408A

Domain	Start	End	E-Value	Type
signal peptide	1	19	N/A	INTRINSIC
Pfam:P4Ha_N	27	160	6.3e-44	PFAM
SCOP:d1qqea_	171	258	1e-3	SMART
P4Hc	338	519	7.67e-65	SMART

Coding Region Coverage

1x: 99.0%
3x: 98.1%
10x: 95.4%
20x: 89.3%

Validation Efficiency

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]

Allele List at MGI

Other mutations in this stock

Total: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700030K09Rik	T	C	8: 73,203,477 (GRCm39)	S302P	probably damaging	Het
Anapc1	T	C	2: 128,466,819 (GRCm39)	T1626A	probably benign	Het
Arhgef6	T	C	X: 56,383,922 (GRCm39)	M5V	probably benign	Het
Arid5a	T	A	1: 36,359,245 (GRCm39)	Y520*	probably null	Het
Aven	G	A	2: 112,461,230 (GRCm39)	M215I	probably damaging	Het
Cabyr	A	G	18: 12,877,837 (GRCm39)	D58G	probably damaging	Het
Ccdc146	A	G	5: 21,535,551 (GRCm39)	Y168H	probably damaging	Het
Ccnd2	A	T	6: 127,107,363 (GRCm39)	S269T	probably benign	Het
Cd68	T	A	11: 69,556,676 (GRCm39)	T44S	probably damaging	Het
Clstn2	A	T	9: 97,338,558 (GRCm39)	I867N	probably benign	Het
Cmss1	C	T	16: 57,136,560 (GRCm39)	R104H	probably benign	Het
Col6a6	A	G	9: 105,586,672 (GRCm39)	V1783A	possibly damaging	Het
Dach2	T	C	X: 112,208,214 (GRCm39)	S31P	probably benign	Het
Dpp8	T	A	9: 64,958,761 (GRCm39)	W279R	probably damaging	Het
Fras1	A	T	5: 96,890,921 (GRCm39)	I2817F	possibly damaging	Het
Gabrr3	G	A	16: 59,281,763 (GRCm39)	D373N	probably benign	Het
Gdf7	T	C	12: 8,351,698 (GRCm39)	N79S	unknown	Het
Gpam	A	G	19: 55,064,763 (GRCm39)	V647A	possibly damaging	Het
Gpatch1	T	C	7: 34,994,776 (GRCm39)	T497A	probably benign	Het
Grin2a	A	T	16: 9,525,579 (GRCm39)	F337L	probably benign	Het
Gtf3c3	C	T	1: 54,456,937 (GRCm39)	A488T	probably damaging	Het
H2-Aa	A	T	17: 34,503,390 (GRCm39)	V69D	possibly damaging	Het
H2-M10.5	T	C	17: 37,084,205 (GRCm39)	Y56H	probably damaging	Het
Kcnu1	G	A	8: 26,351,219 (GRCm39)		probably null	Het
Krt77	A	G	15: 101,769,713 (GRCm39)	S386P	probably damaging	Het
L3mbtl2	T	A	15: 81,566,203 (GRCm39)	M342K	probably benign	Het
Ldlrad1	A	G	4: 107,075,010 (GRCm39)	T186A	probably benign	Het
Lins1	C	A	7: 66,360,385 (GRCm39)	C168*	probably null	Het
Lrrtm3	G	A	10: 63,923,928 (GRCm39)	T413M	probably damaging	Het
Macf1	T	C	4: 123,348,813 (GRCm39)	D4038G	probably damaging	Het
Mark3	T	G	12: 111,594,275 (GRCm39)	N308K	probably damaging	Het
Mdga2	T	A	12: 66,597,367 (GRCm39)	Y709F	possibly damaging	Het
Mtus2	T	A	5: 148,014,198 (GRCm39)	S330R	probably benign	Het
Or1p1	T	A	11: 74,179,762 (GRCm39)	C97S	probably damaging	Het
Or4k15c	G	A	14: 50,321,916 (GRCm39)	A74V	possibly damaging	Het
Or51a24	T	A	7: 103,733,468 (GRCm39)	H273L	probably benign	Het
Or6c76	T	C	10: 129,612,242 (GRCm39)	V168A	probably benign	Het
Ovgp1	A	G	3: 105,894,068 (GRCm39)		probably benign	Het
Pcdh8	T	G	14: 80,007,843 (GRCm39)	D240A	probably damaging	Het
Pcyt2	T	C	11: 120,502,911 (GRCm39)		probably null	Het
Pecr	T	A	1: 72,298,542 (GRCm39)	I293L	probably benign	Het
Pogk	A	G	1: 166,226,402 (GRCm39)	V583A	possibly damaging	Het
Prkg1	T	C	19: 30,602,143 (GRCm39)	K371R	probably benign	Het
Psmd2	T	A	16: 20,474,335 (GRCm39)	M297K	possibly damaging	Het
Rgs12	A	G	5: 35,196,626 (GRCm39)	R769G	possibly damaging	Het
Sgtb	T	A	13: 104,276,284 (GRCm39)	N237K	probably damaging	Het
Sh3bgrl2	T	C	9: 83,476,751 (GRCm39)	V91A	probably damaging	Het
Slc4a1ap	G	A	5: 31,691,554 (GRCm39)		probably null	Het
Slc4a7	T	C	14: 14,778,872 (GRCm38)	V940A	probably benign	Het
Tep1	T	C	14: 51,090,499 (GRCm39)	T740A	probably benign	Het
Tnk2	G	T	16: 32,489,737 (GRCm39)		probably null	Het
Trpv2	A	G	11: 62,483,059 (GRCm39)	Y450C	probably damaging	Het
Tut7	T	C	13: 59,948,054 (GRCm39)	T354A	probably benign	Het
Tvp23a	A	T	16: 10,264,862 (GRCm39)	D16E	probably damaging	Het
Twnk	T	C	19: 44,997,850 (GRCm39)	F460L	possibly damaging	Het
Unc80	C	T	1: 66,560,740 (GRCm39)	H823Y	possibly damaging	Het
Urb2	T	C	8: 124,757,356 (GRCm39)	L1021P	probably damaging	Het
Vps13c	T	C	9: 67,837,993 (GRCm39)	Y1848H	probably damaging	Het
Vwa8	T	G	14: 79,324,121 (GRCm39)	N1141K	probably benign	Het
Yipf3	A	G	17: 46,561,793 (GRCm39)	Y200C	probably damaging	Het
Zbtb38	A	G	9: 96,569,044 (GRCm39)	V680A	probably benign	Het
Znrf3	T	C	11: 5,231,347 (GRCm39)	E722G	probably benign	Het
Zzef1	T	A	11: 72,806,059 (GRCm39)	L2665H	probably damaging	Het

Other mutations in P4ha2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01101:P4ha2	APN	11	54,010,131 (GRCm39)	missense	probably damaging	1.00
IGL01324:P4ha2	APN	11	54,010,984 (GRCm39)	missense	probably damaging	0.99
IGL01953:P4ha2	APN	11	54,004,996 (GRCm39)	missense	probably benign	0.07
IGL02053:P4ha2	APN	11	54,008,413 (GRCm39)	missense	probably benign
FR4342:P4ha2	UTSW	11	54,001,077 (GRCm39)	small deletion	probably benign
R0471:P4ha2	UTSW	11	54,008,434 (GRCm39)	missense	possibly damaging	0.82
R0938:P4ha2	UTSW	11	54,010,148 (GRCm39)	missense	possibly damaging	0.67
R1467:P4ha2	UTSW	11	53,997,236 (GRCm39)	intron	probably benign
R1517:P4ha2	UTSW	11	54,008,471 (GRCm39)	missense	probably benign
R3498:P4ha2	UTSW	11	54,010,079 (GRCm39)	missense	probably benign	0.28
R3916:P4ha2	UTSW	11	54,017,074 (GRCm39)	missense	probably benign	0.07
R4853:P4ha2	UTSW	11	54,010,996 (GRCm39)	missense	probably benign	0.01
R4932:P4ha2	UTSW	11	54,015,846 (GRCm39)	missense	probably benign	0.05
R5020:P4ha2	UTSW	11	54,022,016 (GRCm39)	missense	probably damaging	1.00
R5892:P4ha2	UTSW	11	54,011,014 (GRCm39)	missense	probably damaging	1.00
R5975:P4ha2	UTSW	11	54,017,238 (GRCm39)	critical splice donor site	probably null
R6632:P4ha2	UTSW	11	54,008,474 (GRCm39)	missense	probably benign	0.07
R7023:P4ha2	UTSW	11	54,022,072 (GRCm39)	missense	probably benign	0.01
R7068:P4ha2	UTSW	11	54,001,820 (GRCm39)	missense	probably benign	0.03
R8963:P4ha2	UTSW	11	54,004,995 (GRCm39)	missense	probably benign	0.01
R9215:P4ha2	UTSW	11	54,017,226 (GRCm39)	missense	probably benign	0.27
R9224:P4ha2	UTSW	11	54,009,963 (GRCm39)	missense	possibly damaging	0.92
R9336:P4ha2	UTSW	11	54,002,390 (GRCm39)	missense	possibly damaging	0.67
R9582:P4ha2	UTSW	11	54,022,065 (GRCm39)	nonsense	probably null
RF001:P4ha2	UTSW	11	54,001,061 (GRCm39)	small deletion	probably benign
RF018:P4ha2	UTSW	11	54,001,072 (GRCm39)	frame shift	probably null
RF035:P4ha2	UTSW	11	54,001,061 (GRCm39)	small deletion	probably benign
RF043:P4ha2	UTSW	11	54,001,076 (GRCm39)	frame shift	probably null

Predicted Primers

PCR Primer
(F):5'- AGCATTTAGCCTGTTGCCCGTGAG -3'
(R):5'- GCAGACATTTGTTCCCCTGTTGGTG -3'

Sequencing Primer
(F):5'- GTGAGTGCTGGCCTTGAC -3'
(R):5'- tgaatcagcaagatgtgaacaag -3'

Posted On

2014-04-13