Mutagenetix > Incidental Mutation

Incidental Mutation 'R9336:P4ha2'

707175

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

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.361) question?

Stock #

R9336 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

53991750-54022494 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 54002390 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 109 (D109E)

Ref Sequence

ENSEMBL: ENSMUSP00000091749 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000019050] [ENSMUST00000093107] [ENSMUST00000125132] [ENSMUST00000126840] [ENSMUST00000129499] [ENSMUST00000135653] [ENSMUST00000138477] [ENSMUST00000141258] [ENSMUST00000151218] [ENSMUST00000174616]

AlphaFold

no structure available at present

Predicted Effect

possibly damaging
Transcript: ENSMUST00000019050
AA Change: D109E

PolyPhen 2 Score 0.719 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000019050
Gene: ENSMUSG00000018906
AA Change: D109E

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

possibly damaging
Transcript: ENSMUST00000093107
AA Change: D109E

PolyPhen 2 Score 0.671 (Sensitivity: 0.86; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000091749
Gene: ENSMUSG00000018906
AA Change: D109E

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

probably benign
Transcript: ENSMUST00000125132

Predicted Effect

probably benign
Transcript: ENSMUST00000126840

SMART Domains

Protein: ENSMUSP00000121955
Gene: ENSMUSG00000018906

Domain	Start	End	E-Value	Type
signal peptide	1	19	N/A	INTRINSIC
Pfam:P4Ha_N	27	108	3.3e-26	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000129499

SMART Domains

Protein: ENSMUSP00000115245
Gene: ENSMUSG00000018906

Domain	Start	End	E-Value	Type
transmembrane domain	20	42	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000135653
AA Change: D109E

PolyPhen 2 Score 0.836 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000119861
Gene: ENSMUSG00000018906
AA Change: D109E

Domain	Start	End	E-Value	Type
signal peptide	1	19	N/A	INTRINSIC
Pfam:P4Ha_N	27	112	1.1e-26	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000138477
AA Change: D109E

PolyPhen 2 Score 0.836 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000121119
Gene: ENSMUSG00000018906
AA Change: D109E

Domain	Start	End	E-Value	Type
signal peptide	1	19	N/A	INTRINSIC
Pfam:P4Ha_N	27	158	3.1e-44	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000141258

Predicted Effect

possibly damaging
Transcript: ENSMUST00000151218
AA Change: D109E

PolyPhen 2 Score 0.836 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000118384
Gene: ENSMUSG00000018906
AA Change: D109E

Domain	Start	End	E-Value	Type
signal peptide	1	19	N/A	INTRINSIC
Pfam:P4Ha_N	27	128	6e-30	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000174616
AA Change: D109E

PolyPhen 2 Score 0.671 (Sensitivity: 0.86; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000133275
Gene: ENSMUSG00000018906
AA Change: D109E

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: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.3%

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: 94 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2510039O18Rik	C	T	4: 148,029,490 (GRCm39)	R487C	probably benign	Het
2900026A02Rik	A	T	5: 113,240,966 (GRCm39)		probably null	Het
Adamts15	T	A	9: 30,816,085 (GRCm39)	T625S	probably damaging	Het
Adamtsl1	T	C	4: 86,240,264 (GRCm39)	V675A	probably benign	Het
Ank3	A	T	10: 69,809,578 (GRCm39)	T1120S	probably benign	Het
Armh3	A	T	19: 45,945,120 (GRCm39)	M277K	probably damaging	Het
Babam2	A	T	5: 31,859,194 (GRCm39)	M1L	possibly damaging	Het
Cadm3	G	A	1: 173,168,786 (GRCm39)	Q261*	probably null	Het
Cdc27	A	T	11: 104,396,496 (GRCm39)	D802E	probably benign	Het
Cfap206	C	T	4: 34,716,494 (GRCm39)	V324I	probably benign	Het
Cfap44	T	C	16: 44,242,807 (GRCm39)	I737T	probably damaging	Het
Chrm3	A	T	13: 9,928,652 (GRCm39)	I128N	probably damaging	Het
Cyfip1	T	A	7: 55,554,189 (GRCm39)	S743T	probably benign	Het
Ddias	A	G	7: 92,507,314 (GRCm39)	V867A	possibly damaging	Het
Ddx20	G	C	3: 105,585,903 (GRCm39)	T814R	possibly damaging	Het
Dgka	A	T	10: 128,566,935 (GRCm39)		probably null	Het
Dnah9	A	T	11: 65,761,775 (GRCm39)	V3905E	probably damaging	Het
Dsg3	C	A	18: 20,657,742 (GRCm39)	Q271K	probably benign	Het
Dvl2	T	A	11: 69,897,180 (GRCm39)	I294N	probably damaging	Het
E2f3	G	A	13: 30,095,239 (GRCm39)	H350Y	possibly damaging	Het
Eif2b5	G	A	16: 20,324,027 (GRCm39)	D457N	probably damaging	Het
Erbb3	T	C	10: 128,420,929 (GRCm39)	T125A	probably benign	Het
Etv5	A	C	16: 22,254,627 (GRCm39)	C78G	probably benign	Het
Frrs1	G	A	3: 116,684,582 (GRCm39)	R263H	probably benign	Het
Grid1	G	A	14: 35,043,664 (GRCm39)	D340N	probably damaging	Het
Hivep3	A	T	4: 119,952,400 (GRCm39)	I239F	possibly damaging	Het
Ifi208	C	T	1: 173,510,394 (GRCm39)	T183I	probably damaging	Het
Ifitm2	AG	A	7: 140,535,814 (GRCm39)		probably null	Het
Igkv1-88	T	A	6: 68,839,313 (GRCm39)	I100F	probably damaging	Het
Kmt2c	T	C	5: 25,614,165 (GRCm39)	N185S	probably benign	Het
Kmt2d	A	C	15: 98,743,697 (GRCm39)	L3821R	unknown	Het
Krtap22-2	T	G	16: 88,807,478 (GRCm39)	Y40S	unknown	Het
Lrrc1	A	G	9: 77,349,480 (GRCm39)	V362A	probably damaging	Het
Malsu1	T	A	6: 49,061,449 (GRCm39)	I171N	probably damaging	Het
Mark1	C	T	1: 184,648,345 (GRCm39)	G314S	possibly damaging	Het
Mib2	T	C	4: 155,743,394 (GRCm39)	N135S	probably benign	Het
Mos	A	T	4: 3,870,886 (GRCm39)	L310Q	probably damaging	Het
Muc4	C	T	16: 32,569,756 (GRCm39)	T272I	possibly damaging	Het
Myo15b	A	G	11: 115,771,064 (GRCm39)	T1654A		Het
Napsa	G	T	7: 44,231,769 (GRCm39)	G153W	probably damaging	Het
Nos3	A	C	5: 24,584,761 (GRCm39)	I722L	probably benign	Het
Or10z1	A	T	1: 174,077,679 (GRCm39)	D271E	probably damaging	Het
Or1p1c	A	T	11: 74,160,743 (GRCm39)	D176V	probably damaging	Het
Or51h1	A	T	7: 102,308,199 (GRCm39)	H57L	probably damaging	Het
Or5b104	A	T	19: 13,072,513 (GRCm39)	S166R	probably benign	Het
Pappa	G	T	4: 65,042,918 (GRCm39)	C47F	unknown	Het
Pbx3	T	A	2: 34,261,832 (GRCm39)	H34L	probably benign	Het
Pcca	A	G	14: 122,887,738 (GRCm39)	T234A	probably benign	Het
Pcdha11	C	T	18: 37,144,514 (GRCm39)	R202W	probably damaging	Het
Pcdhga1	T	G	18: 37,795,251 (GRCm39)	V85G	probably damaging	Het
Pclo	A	G	5: 14,726,562 (GRCm39)	I1807V	unknown	Het
Pgm3	A	T	9: 86,437,413 (GRCm39)	F528Y	probably benign	Het
Pigz	T	C	16: 31,763,694 (GRCm39)	Y251H	probably damaging	Het
Pik3c2g	G	T	6: 139,821,161 (GRCm39)	Q687H		Het
Pja2	A	T	17: 64,590,432 (GRCm39)	N700K	unknown	Het
Pkd2l2	T	C	18: 34,561,158 (GRCm39)	F389L	probably damaging	Het
Plcz1	T	A	6: 139,985,446 (GRCm39)	T32S	possibly damaging	Het
Pola2	A	G	19: 5,991,029 (GRCm39)	V555A	possibly damaging	Het
Ppp4r3a	A	C	12: 101,015,919 (GRCm39)	C541G	probably benign	Het
Prr15l	A	T	11: 96,825,599 (GRCm39)	K76N	probably damaging	Het
Psg28	C	A	7: 18,156,905 (GRCm39)	K443N	possibly damaging	Het
Ptch2	G	T	4: 116,954,197 (GRCm39)	A76S	probably damaging	Het
Ptch2	A	G	4: 116,966,776 (GRCm39)	D553G	possibly damaging	Het
Ptprz1	T	C	6: 23,000,855 (GRCm39)	S982P	probably benign	Het
Rnd3	T	C	2: 51,038,844 (GRCm39)	I15V	probably benign	Het
Rtn3	T	C	19: 7,460,328 (GRCm39)	K41E	unknown	Het
Sap25	T	C	5: 137,639,985 (GRCm39)	S30P	probably benign	Het
Scfd2	A	T	5: 74,692,006 (GRCm39)	I92N	probably damaging	Het
Sdr16c5	T	C	4: 4,016,108 (GRCm39)	Y106C	probably damaging	Het
Sell	T	C	1: 163,893,177 (GRCm39)	I131T	probably damaging	Het
Sesn3	T	A	9: 14,225,850 (GRCm39)	V195D	probably damaging	Het
Setdb2	A	G	14: 59,660,816 (GRCm39)	V109A	unknown	Het
Skint2	T	C	4: 112,483,054 (GRCm39)	I153T	probably benign	Het
Slc22a1	A	G	17: 12,886,142 (GRCm39)	S164P	probably damaging	Het
Sowahc	G	A	10: 59,058,305 (GRCm39)	G147D	probably benign	Het
Strip2	G	C	6: 29,931,824 (GRCm39)	G456R	probably benign	Het
Synpo	G	T	18: 60,735,472 (GRCm39)	R825S	probably damaging	Het
Tango6	A	G	8: 107,415,701 (GRCm39)	D174G	probably benign	Het
Tas1r2	T	C	4: 139,389,316 (GRCm39)	F433S	probably damaging	Het
Tas2r126	T	C	6: 42,411,877 (GRCm39)	S137P	probably benign	Het
Tbc1d15	A	G	10: 115,044,866 (GRCm39)	F512S	probably damaging	Het
Tenm3	A	T	8: 48,870,115 (GRCm39)	L226Q	probably damaging	Het
Tmod1	A	G	4: 46,078,368 (GRCm39)	T59A	probably damaging	Het
Tmprss9	T	A	10: 80,730,787 (GRCm39)	M771K	probably benign	Het
Trim29	T	C	9: 43,238,350 (GRCm39)	Y485H	possibly damaging	Het
Ttc17	T	C	2: 94,189,198 (GRCm39)	K144E	probably benign	Het
Ttc21b	A	G	2: 66,057,287 (GRCm39)	Y562H	probably benign	Het
Ugt2b5	T	C	5: 87,285,130 (GRCm39)	H269R	probably benign	Het
Utp20	A	G	10: 88,649,798 (GRCm39)	F471L	probably damaging	Het
Vmn2r120	T	A	17: 57,832,201 (GRCm39)	D196V	possibly damaging	Het
Wdr72	T	C	9: 74,117,292 (GRCm39)	V680A	probably damaging	Het
Wee1	G	A	7: 109,721,689 (GRCm39)	G45S	probably damaging	Het
Zfp1006	A	T	8: 129,944,149 (GRCm39)	D91E	unknown	Het
Zfp518a	G	A	19: 40,901,225 (GRCm39)	V385I	probably benign	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
R1556:P4ha2	UTSW	11	54,015,836 (GRCm39)	missense	probably damaging	0.98
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
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'- AAATGAGCACCCTGTGTGG -3'
(R):5'- TGGAGTTATTGGATTAAACATCGTG -3'

Sequencing Primer
(F):5'- GGTGGGTGTGGCAGTCTC -3'
(R):5'- TTACGTACCTGAAGTCTGT -3'

Posted On

2022-04-18