Mutagenetix > Incidental Mutations

Incidental Mutation 'R7237:P4ha1'

562911

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

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R7237 (G1)

Quality Score

224.009

Status

Validated

Chromosome

Chromosomal Location

59323296-59373304 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 59348243 bp

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 176 (T176A)

Ref Sequence

ENSEMBL: ENSMUSP00000009789 (fasta)

Gene Model

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

Predicted Effect

probably benign
Transcript: ENSMUST00000009789
AA Change: T176A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000009789
Gene: ENSMUSG00000019916
AA Change: T176A

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 benign
Transcript: ENSMUST00000105466
AA Change: T176A

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000101106
Gene: ENSMUSG00000019916
AA Change: T176A

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.6%

Validation Efficiency

98% (83/85)

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: 84 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Arhgap21	A	T	2: 20,849,972	C1536*	probably null	Het
Armc9	C	A	1: 86,164,849	Q169K	possibly damaging	Het
Aspm	T	A	1: 139,477,929	M1518K	possibly damaging	Het
AU018091	A	G	7: 3,159,166	I360T	probably benign	Het
BB014433	C	A	8: 15,041,765	V363L	probably benign	Het
Bcam	T	C	7: 19,769,307		probably null	Het
Cacna1g	T	C	11: 94,437,879	S1071G	probably benign	Het
Card9	A	T	2: 26,356,775	S354T	probably benign	Het
Ccdc87	A	G	19: 4,839,762	N94S	probably benign	Het
Cdc27	A	G	11: 104,517,419	V555A	probably benign	Het
Coro1a	T	A	7: 126,700,306	D411V	probably benign	Het
Cybrd1	GGTCCTGCAC	G	2: 71,118,209		probably benign	Het
Cyth1	A	T	11: 118,185,495	I95N	probably damaging	Het
Ddx58	T	A	4: 40,205,938	I885F	probably benign	Het
Dnah7b	A	T	1: 46,139,966	E933V	probably damaging	Het
Dync2h1	A	T	9: 6,993,966	I3968N	probably benign	Het
Fam126b	G	A	1: 58,529,948	Q491*	probably null	Het
Fam184a	T	C	10: 53,634,393		probably benign	Het
Fat3	G	A	9: 16,377,214	L338F	probably damaging	Het
Fcgr3	A	G	1: 171,059,301	L18P	probably damaging	Het
Gbp5	T	C	3: 142,507,700	V459A	probably benign	Het
Gja4	A	T	4: 127,312,163	M269K	probably benign	Het
Gm4787	A	G	12: 81,377,668	V572A	probably damaging	Het
Grin2d	G	T	7: 45,866,176	S131*	probably null	Het
Gys1	A	G	7: 45,455,162	D671G	probably benign	Het
Haspin	T	C	11: 73,136,886	N459S	probably benign	Het
Hdac10	G	T	15: 89,125,377	Q451K	probably benign	Het
Hdac9	T	C	12: 34,374,140		probably null	Het
Hmcn1	A	G	1: 150,722,643	V1636A	probably damaging	Het
Hpca	A	G	4: 129,118,614	L43P	probably damaging	Het
Insm1	C	A	2: 146,222,528	A88E	possibly damaging	Het
Itga9	A	G	9: 118,636,602	K175E	probably benign	Het
Kif13a	A	G	13: 46,809,156		probably null	Het
Kif20b	T	A	19: 34,950,605	L1089H	probably damaging	Het
Lamp5	A	T	2: 136,059,835	H152L	probably benign	Het
Lrp4	T	C	2: 91,473,183	F76L	probably benign	Het
Magi3	T	C	3: 104,027,911	D902G	probably damaging	Het
Map10	C	T	8: 125,671,224	P452L	probably benign	Het
Mapk6	A	G	9: 75,397,613	L174P	probably damaging	Het
Ndufa4	C	T	6: 11,906,019		probably null	Het
Nedd4	A	T	9: 72,725,064	E393D	probably benign	Het
Nlrp4b	G	A	7: 10,715,216	V449I	probably benign	Het
Nufip2	T	A	11: 77,692,770	N503K	probably benign	Het
Olfr220	C	T	1: 174,449,339	R239C	probably benign	Het
Olfr455	T	C	6: 42,538,647	D125G	probably damaging	Het
Palm3	A	G	8: 84,029,488	K543R	probably benign	Het
Parvg	G	A	15: 84,341,356	A302T	probably benign	Het
Pcdh15	A	G	10: 74,584,191	D1227G	possibly damaging	Het
Pdzd8	C	T	19: 59,345,139	G150D	probably damaging	Het
Pitpnm2	A	G	5: 124,125,297		probably null	Het
Pld5	T	C	1: 176,274,735	Q47R	possibly damaging	Het
Ppp2r5d	T	C	17: 46,686,280	S329G	possibly damaging	Het
Prss56	T	C	1: 87,184,915	V144A	probably damaging	Het
Psg28	A	T	7: 18,427,844	Y245N	possibly damaging	Het
Ptpn3	C	T	4: 57,239,625	V302I	probably damaging	Het
Ptprn2	A	G	12: 117,161,727	H627R	probably benign	Het
Rasgrp2	A	T	19: 6,404,808	H226L	possibly damaging	Het
Rbm20	C	T	19: 53,851,499	T973M	probably benign	Het
Riok2	T	A	17: 17,377,783	L44Q	probably damaging	Het
Rusc1	G	T	3: 89,091,498	Q326K	possibly damaging	Het
Sart3	A	T	5: 113,754,246	H397Q	possibly damaging	Het
Sec31b	T	A	19: 44,517,708	T920S	probably damaging	Het
Serpinb13	A	G	1: 106,998,949	E225G	probably damaging	Het
Slc25a47	T	C	12: 108,855,460	L165P	probably damaging	Het
Slc2a10	G	A	2: 165,515,277	V286I	probably benign	Het
Slc39a13	G	T	2: 91,065,634	T174N	probably benign	Het
Slc7a13	T	A	4: 19,839,364	N322K	probably benign	Het
Stk38	T	C	17: 28,974,646	T326A	possibly damaging	Het
Sult1a1	T	C	7: 126,673,450	M244V	probably benign	Het
Tas2r144	C	T	6: 42,215,866	T180I	probably damaging	Het
Tbc1d12	T	A	19: 38,898,902	M366K	probably benign	Het
Terb1	T	C	8: 104,495,327	I147V	possibly damaging	Het
Tldc1	C	T	8: 119,762,315	G410S	probably damaging	Het
Tmem5	A	T	10: 122,081,618	L330*	probably null	Het
Tnik	T	C	3: 28,638,419	Y820H	probably damaging	Het
Tnxb	C	A	17: 34,682,196	L995I	possibly damaging	Het
Trim34b	A	G	7: 104,329,587	T14A	possibly damaging	Het
Urb1	T	C	16: 90,791,166	E418G	probably damaging	Het
Vmn1r12	T	A	6: 57,159,565	C216S	possibly damaging	Het
Vmn2r90	T	A	17: 17,703,987	V16E	possibly damaging	Het
Vps11	A	T	9: 44,354,506	V492D	probably damaging	Het
Wdr62	A	C	7: 30,270,444		probably null	Het
Zc3h14	T	A	12: 98,780,149	M539K	probably benign	Het
Zfp871	A	T	17: 32,775,315	H295Q	probably damaging	Het

Other mutations in P4ha1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01068:P4ha1	APN	10	59339335	missense	probably damaging	1.00
IGL01820:P4ha1	APN	10	59361914	missense	probably damaging	1.00
IGL02340:P4ha1	APN	10	59352201	missense	probably benign	0.03
IGL02480:P4ha1	APN	10	59343752	missense	probably damaging	1.00
IGL02496:P4ha1	APN	10	59371002	critical splice acceptor site	probably null
PIT4453001:P4ha1	UTSW	10	59350472	missense	probably benign
R0149:P4ha1	UTSW	10	59348399	missense	probably damaging	1.00
R0265:P4ha1	UTSW	10	59348259	missense	probably damaging	1.00
R0282:P4ha1	UTSW	10	59337148	missense	probably damaging	1.00
R0432:P4ha1	UTSW	10	59348257	nonsense	probably null
R0683:P4ha1	UTSW	10	59337147	missense	probably benign	0.05
R1929:P4ha1	UTSW	10	59371037	missense	probably damaging	1.00
R5790:P4ha1	UTSW	10	59354362	missense	probably benign	0.07
R5858:P4ha1	UTSW	10	59339378	missense	probably damaging	1.00
R5955:P4ha1	UTSW	10	59342796	missense	probably benign	0.00
R6123:P4ha1	UTSW	10	59350527	missense	possibly damaging	0.80
R7350:P4ha1	UTSW	10	59350418	missense	probably damaging	0.97
R7380:P4ha1	UTSW	10	59350451	missense	probably benign	0.28
R7583:P4ha1	UTSW	10	59369640	missense	probably benign	0.03
X0062:P4ha1	UTSW	10	59348246	missense	possibly damaging	0.80

Predicted Primers

PCR Primer
(F):5'- GTGAAGTAATACTTGGAGAGCTATG -3'
(R):5'- TGCAGATAAGACAGACGCC -3'

Sequencing Primer
(F):5'- TTGCTAATGCTCTGGACg -3'
(R):5'- CGCTGTAAGTCAGGCCAGATAAC -3'

Posted On

2019-06-26