Mutagenetix > Incidental Mutation

Incidental Mutation 'R1517:P4ha2'

167111

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

039563-MU

Accession Numbers

Essential gene?

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

Stock #

R1517 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

53991750-54022494 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 54008471 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Arginine at position 226 (H226R)

Ref Sequence

ENSEMBL: ENSMUSP00000133275 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000019050
AA Change: H226R

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

SMART Domains

Protein: ENSMUSP00000019050
Gene: ENSMUSG00000018906
AA Change: H226R

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: H226R

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

SMART Domains

Protein: ENSMUSP00000091749
Gene: ENSMUSG00000018906
AA Change: H226R

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

probably benign
Transcript: ENSMUST00000138477

SMART Domains

Protein: ENSMUSP00000121119
Gene: ENSMUSG00000018906

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

probably benign
Transcript: ENSMUST00000151218

SMART Domains

Protein: ENSMUSP00000118384
Gene: ENSMUSG00000018906

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000155299

Predicted Effect

probably benign
Transcript: ENSMUST00000174616
AA Change: H226R

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

SMART Domains

Protein: ENSMUSP00000133275
Gene: ENSMUSG00000018906
AA Change: H226R

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

Meta Mutation Damage Score

0.0596

Coding Region Coverage

1x: 99.1%
3x: 98.2%
10x: 95.9%
20x: 91.9%

Validation Efficiency

100% (67/67)

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: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca8b	T	C	11: 109,862,640 (GRCm39)	K375R	possibly damaging	Het
Adrb2	T	C	18: 62,311,871 (GRCm39)	N318S	probably damaging	Het
Akap5	A	C	12: 76,376,036 (GRCm39)	E489D	possibly damaging	Het
Aldh7a1	T	A	18: 56,665,133 (GRCm39)	I385F	probably damaging	Het
Astn1	T	A	1: 158,407,146 (GRCm39)		probably benign	Het
Atp7b	T	A	8: 22,487,374 (GRCm39)	T1314S	probably damaging	Het
Bhmt2	C	A	13: 93,798,847 (GRCm39)	G325C	probably damaging	Het
Brpf1	T	A	6: 113,296,050 (GRCm39)	V781E	probably benign	Het
Cacna1c	T	A	6: 118,575,720 (GRCm39)	Y1860F	probably benign	Het
Ccdc7a	T	C	8: 129,788,162 (GRCm39)	T56A	probably damaging	Het
Cep78	A	G	19: 15,937,027 (GRCm39)	S560P	probably damaging	Het
Cnot1	G	A	8: 96,469,841 (GRCm39)	T1343I	probably benign	Het
Coq10b	T	C	1: 55,103,416 (GRCm39)	S65P	probably damaging	Het
Creld1	T	A	6: 113,466,745 (GRCm39)	C243S	probably damaging	Het
Cst12	A	T	2: 148,635,172 (GRCm39)	I121F	possibly damaging	Het
Cyp26a1	A	C	19: 37,687,308 (GRCm39)	E165A	probably benign	Het
Cyp2d12	T	G	15: 82,442,337 (GRCm39)	M273R	probably damaging	Het
Dnajb7	T	A	15: 81,291,657 (GRCm39)	S227C	probably damaging	Het
Evc	T	A	5: 37,476,379 (GRCm39)	Q390L	probably damaging	Het
F830016B08Rik	T	A	18: 60,433,970 (GRCm39)	L351*	probably null	Het
Fga	T	C	3: 82,939,145 (GRCm39)	S507P	probably benign	Het
Gba1	A	T	3: 89,113,455 (GRCm39)	Y239F	probably damaging	Het
Golga2	C	A	2: 32,195,996 (GRCm39)	Y843*	probably null	Het
Gria4	C	A	9: 4,793,865 (GRCm39)	L64F	probably damaging	Het
Hectd3	A	G	4: 116,860,191 (GRCm39)	Y803C	probably damaging	Het
Hmcn1	T	C	1: 150,545,172 (GRCm39)	K2812E	probably damaging	Het
Il17b	T	G	18: 61,823,316 (GRCm39)	V50G	probably damaging	Het
Itga2b	A	T	11: 102,357,151 (GRCm39)	L243*	probably null	Het
Kank4	C	A	4: 98,667,266 (GRCm39)	V394L	possibly damaging	Het
Kat14	T	A	2: 144,215,711 (GRCm39)	D65E	probably benign	Het
Kcnh3	T	C	15: 99,136,090 (GRCm39)	Y696H	probably damaging	Het
Kctd19	C	A	8: 106,122,008 (GRCm39)	D180Y	probably damaging	Het
Klra8	A	C	6: 130,092,603 (GRCm39)	S233A	probably benign	Het
Masp2	A	T	4: 148,696,563 (GRCm39)	T387S	possibly damaging	Het
Midn	C	A	10: 79,989,957 (GRCm39)	T275N	probably damaging	Het
Mis18bp1	A	G	12: 65,180,587 (GRCm39)	F965L	probably benign	Het
Myo3a	G	T	2: 22,287,445 (GRCm39)	V186L	probably damaging	Het
Ncoa2	T	A	1: 13,235,281 (GRCm39)	N884I	probably benign	Het
Or10d4	T	C	9: 39,581,016 (GRCm39)	I221T	probably damaging	Het
Or13c25	A	T	4: 52,911,502 (GRCm39)	C97*	probably null	Het
Or8k35	T	A	2: 86,424,948 (GRCm39)	T75S	probably damaging	Het
Osr2	T	C	15: 35,300,813 (GRCm39)	V123A	probably benign	Het
Pcdhb16	T	A	18: 37,611,151 (GRCm39)	V37E	probably benign	Het
Pcdhb18	T	A	18: 37,622,673 (GRCm39)	M1K	probably null	Het
Pcsk1	T	A	13: 75,246,166 (GRCm39)	Y181*	probably null	Het
Pros1	G	T	16: 62,705,875 (GRCm39)	C63F	probably damaging	Het
Ranbp3l	T	A	15: 9,065,081 (GRCm39)	C353*	probably null	Het
Rev3l	T	C	10: 39,714,439 (GRCm39)	Y2388H	probably benign	Het
Rif1	GCCACCA	GCCA	2: 52,000,336 (GRCm39)		probably benign	Het
Rpl12-ps1	G	T	1: 36,997,458 (GRCm39)		noncoding transcript	Het
Rttn	T	C	18: 89,131,474 (GRCm39)	V1951A	probably benign	Het
Scn9a	G	A	2: 66,335,371 (GRCm39)		probably benign	Het
Sdk1	T	C	5: 142,113,591 (GRCm39)	F1546S	probably damaging	Het
Sh3glb2	C	T	2: 30,244,987 (GRCm39)	R71Q	probably damaging	Het
Slc30a6	T	C	17: 74,715,842 (GRCm39)	F101L	probably benign	Het
Snrpd1	T	C	18: 10,626,913 (GRCm39)	I60T	probably damaging	Het
Sox10	T	A	15: 79,043,378 (GRCm39)	E218D	probably benign	Het
Tekt3	C	A	11: 62,961,316 (GRCm39)	H162N	probably damaging	Het
Tnfsf13	T	C	11: 69,575,564 (GRCm39)	S246G	possibly damaging	Het
Trim10	T	A	17: 37,183,346 (GRCm39)	I214N	probably damaging	Het
Trp63	C	A	16: 25,708,003 (GRCm39)	D566E	probably damaging	Het
Uck2	T	C	1: 167,062,293 (GRCm39)	D156G	probably damaging	Het
Zfp386	T	A	12: 116,023,225 (GRCm39)	S314R	possibly damaging	Het
Zfp467	C	T	6: 48,415,170 (GRCm39)	R494H	probably damaging	Het
Zfp735	A	T	11: 73,601,470 (GRCm39)	D138V	probably benign	Het
Zfyve26	T	C	12: 79,298,925 (GRCm39)	E445G	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
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
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'- CCGCTCAGCTTACAATGAAGGAGAC -3'
(R):5'- TGCATAGTGGTACAAGCACCACAAC -3'

Sequencing Primer
(F):5'- GGAGACTATTACCATACTGTGCTG -3'
(R):5'- AGTGTGTATAAGAAGCTACTCGGTG -3'

Posted On

2014-04-13