Mutagenetix > Incidental Mutations

Incidental Mutation 'R3916:P4ha2'

474559

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

Accession Numbers

Is this an essential gene?

Possibly non essential (E-score: 0.485) question?

Stock #

R3916 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

54100095-54131665 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 54126248 bp

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 441 (D441G)

Ref Sequence

ENSEMBL: ENSMUSP00000133275 (fasta)

Gene Model

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

Predicted Effect

probably benign
Transcript: ENSMUST00000019050

SMART Domains

Protein: ENSMUSP00000019050
Gene: ENSMUSG00000018906

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 benign
Transcript: ENSMUST00000093107
AA Change: D441G

PolyPhen 2 Score 0.066 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000091749
Gene: ENSMUSG00000018906
AA Change: D441G

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

noncoding transcript
Transcript: ENSMUST00000142583

Predicted Effect

probably benign
Transcript: ENSMUST00000174616
AA Change: D441G

PolyPhen 2 Score 0.066 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000133275
Gene: ENSMUSG00000018906
AA Change: D441G

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: 99.2%
3x: 98.6%
10x: 97.4%
20x: 95.4%

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: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4932414N04Rik	T	G	2: 68,731,985	F319V	possibly damaging	Het
Acad12	A	G	5: 121,599,214	V498A	probably damaging	Het
Adam19	A	G	11: 46,060,935	E37G	probably benign	Het
Anks3	A	G	16: 4,947,279	Y423H	probably damaging	Het
Arfgef1	A	T	1: 10,189,443	V600D	probably benign	Het
Arhgef18	T	C	8: 3,454,197	F939L	probably benign	Het
Arhgef2	A	G	3: 88,633,033	N127S	probably damaging	Het
Arid1b	A	G	17: 5,342,653	S2100G	probably benign	Het
Atp1b2	A	G	11: 69,603,075	V93A	probably damaging	Het
Atrnl1	T	C	19: 57,935,652	V1283A	possibly damaging	Het
Bpifb5	A	C	2: 154,228,181	K184Q	probably benign	Het
Cadps	C	T	14: 12,457,702	A1060T	probably benign	Het
Cant1	A	G	11: 118,408,746	V259A	probably damaging	Het
Ccdc89	A	G	7: 90,426,825	D81G	probably damaging	Het
Cd109	CATTTATTTATTTATTTATTTATTTATTTATTTAT	CATTTATTTATTTATTTATTTATTTATTTATTTATTTAT	9: 78,712,500		probably benign	Het
Cntnap4	C	G	8: 112,875,533	P1190A	probably benign	Het
Colgalt2	T	A	1: 152,508,611	Y567*	probably null	Het
Cyp4f18	A	T	8: 71,996,037	F256Y	probably benign	Het
Ddx41	G	A	13: 55,534,480	R205W	possibly damaging	Het
Dopey1	G	A	9: 86,521,133	R1462H	probably damaging	Het
Dync1i2	A	G	2: 71,249,372	T377A	probably damaging	Het
F2	G	A	2: 91,625,488	T600M	probably damaging	Het
Fam91a1	C	T	15: 58,430,734	H308Y	probably damaging	Het
Fkbp2	C	A	19: 6,978,557		probably null	Het
Gabarapl2	T	A	8: 111,952,396	F115L	probably benign	Het
Heatr3	T	G	8: 88,150,371		probably null	Het
Ifi204	T	G	1: 173,755,775	K292N	possibly damaging	Het
Itpkc	A	T	7: 27,228,303	I62N	probably benign	Het
Kcnab1	G	A	3: 65,304,164		probably null	Het
Krt88	G	A	15: 101,452,928		probably null	Het
Larp4	C	T	15: 99,990,403	T107I	probably benign	Het
Lmo7	T	C	14: 101,929,342		probably benign	Het
Lrrc37a	T	C	11: 103,455,518	Y3174C	possibly damaging	Het
Lyzl4	T	A	9: 121,583,035	D105V	probably damaging	Het
Mst1	A	G	9: 108,084,295	I575V	probably benign	Het
Myh7	C	A	14: 54,974,046	E1555D	probably damaging	Het
Nwd1	T	A	8: 72,667,811	C608*	probably null	Het
Obox3	C	A	7: 15,627,226	C38F	probably benign	Het
Pcdhb14	A	T	18: 37,448,545	I235F	possibly damaging	Het
Rasgrf2	A	G	13: 92,030,788	V259A	probably damaging	Het
Scn1a	T	C	2: 66,277,613	T1590A	probably damaging	Het
Sdk1	T	A	5: 142,051,244	D817E	probably damaging	Het
Sema3b	A	G	9: 107,600,458	F482S	probably damaging	Het
Slc35a5	G	C	16: 45,158,158		probably benign	Het
Slc6a3	A	G	13: 73,562,308	I346V	probably benign	Het
Slu7	G	T	11: 43,440,684		probably null	Het
Spns1	A	T	7: 126,371,539		probably null	Het
Supv3l1	T	C	10: 62,449,420	D89G	possibly damaging	Het
Taf1c	G	A	8: 119,600,505	R412W	probably damaging	Het
Tctn3	T	A	19: 40,607,649	T305S	possibly damaging	Het
Tekt1	A	G	11: 72,345,748	I296T	possibly damaging	Het
Tet2	T	C	3: 133,486,055	K873E	possibly damaging	Het
Thada	G	A	17: 84,441,782	A587V	possibly damaging	Het
Tmprss15	T	A	16: 78,985,996	N712Y	probably damaging	Het
Tnks	A	G	8: 34,853,361	S719P	probably damaging	Het
Tnrc6a	A	C	7: 123,181,384	Q1332H	probably damaging	Het
Trpv3	A	G	11: 73,283,734	D309G	possibly damaging	Het
Tti2	A	G	8: 31,153,519	K221E	possibly damaging	Het
Uba5	A	T	9: 104,054,190	C227S	probably damaging	Het
Ugcg	C	T	4: 59,207,798	P46S	probably benign	Het
Unc80	T	C	1: 66,677,495	C2925R	probably benign	Het
Vmn2r83	G	A	10: 79,478,910	G331R	probably benign	Het
Xirp2	G	T	2: 67,511,422	V1336F	probably benign	Het
Zbed5	T	C	5: 129,902,277	Y356H	possibly damaging	Het

Other mutations in P4ha2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01101:P4ha2	APN	11	54119305	missense	probably damaging	1.00
IGL01324:P4ha2	APN	11	54120158	missense	probably damaging	0.99
IGL01953:P4ha2	APN	11	54114170	missense	probably benign	0.07
IGL02053:P4ha2	APN	11	54117587	missense	probably benign
FR4342:P4ha2	UTSW	11	54110251	small deletion	probably benign
R0471:P4ha2	UTSW	11	54117608	missense	possibly damaging	0.82
R0938:P4ha2	UTSW	11	54119322	missense	possibly damaging	0.67
R1467:P4ha2	UTSW	11	54106410	intron	probably benign
R1517:P4ha2	UTSW	11	54117645	missense	probably benign
R1556:P4ha2	UTSW	11	54125010	missense	probably damaging	0.98
R3498:P4ha2	UTSW	11	54119253	missense	probably benign	0.28
R4853:P4ha2	UTSW	11	54120170	missense	probably benign	0.01
R4932:P4ha2	UTSW	11	54125020	missense	probably benign	0.05
R5020:P4ha2	UTSW	11	54131190	missense	probably damaging	1.00
R5892:P4ha2	UTSW	11	54120188	missense	probably damaging	1.00
R5975:P4ha2	UTSW	11	54126412	critical splice donor site	probably null
R6632:P4ha2	UTSW	11	54117648	missense	probably benign	0.07
R7023:P4ha2	UTSW	11	54131246	missense	probably benign	0.01
R7068:P4ha2	UTSW	11	54110994	missense	probably benign	0.03
RF001:P4ha2	UTSW	11	54110235	small deletion	probably benign
RF018:P4ha2	UTSW	11	54110246	frame shift	probably null
RF035:P4ha2	UTSW	11	54110235	small deletion	probably benign
RF043:P4ha2	UTSW	11	54110250	frame shift	probably null

Predicted Primers

Posted On

2017-04-14