Mutagenetix > Incidental Mutations

Incidental Mutation 'R8031:P4ha3'

617951

Institutional Source

Beutler Lab

Gene Symbol

P4ha3

Ensembl Gene

ENSMUSG00000051048

Gene Name

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

Synonyms

MMRRC Submission

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.060) question?

Stock #

R8031 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

100285520-100319699 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 100292698 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 106 (E106G)

Ref Sequence

ENSEMBL: ENSMUSP00000055297 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000057023] [ENSMUST00000139790]

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000057023
AA Change: E106G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000055297
Gene: ENSMUSG00000051048
AA Change: E106G

Domain	Start	End	E-Value	Type
signal peptide	1	24	N/A	INTRINSIC
Pfam:P4Ha_N	31	159	1.4e-31	PFAM
SCOP:d1ihga1	177	258	8e-4	SMART
P4Hc	344	526	1.08e-50	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000138465

SMART Domains

Protein: ENSMUSP00000119159
Gene: ENSMUSG00000051048

Domain	Start	End	E-Value	Type
PDB:4BTB\|A	1	141	7e-17	PDB
SCOP:d1ihga1	44	125	4e-4	SMART
P4Hc	211	372	4.89e-40	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000139790

SMART Domains

Protein: ENSMUSP00000117015
Gene: ENSMUSG00000051048

Domain	Start	End	E-Value	Type
signal peptide	1	24	N/A	INTRINSIC
low complexity region	43	55	N/A	INTRINSIC

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.0%

Validation Efficiency

100% (60/60)

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. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2014]

Allele List at MGI

Other mutations in this stock

Total: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ace3	T	C	11: 105,998,098		probably null	Het
Arhgdib	A	G	6: 136,924,276	Y152H	probably benign	Het
Atxn10	T	G	15: 85,393,393	S354A	probably benign	Het
Cacng6	T	C	7: 3,424,885	V75A	possibly damaging	Het
Cdc23	A	G	18: 34,651,688	V7A	unknown	Het
Cdc40	T	A	10: 40,852,516	E157D	probably benign	Het
Defa25	T	A	8: 21,085,237	N77K	probably benign	Het
Dsc2	C	T	18: 20,032,274	G881R	possibly damaging	Het
Efcab6	T	C	15: 83,983,498	K260E	possibly damaging	Het
Eif4a3	T	C	11: 119,288,905	Y352C	probably damaging	Het
Erc2	A	T	14: 28,011,692	K566N	probably damaging	Het
Fam3b	A	C	16: 97,481,852	Y74*	probably null	Het
Flg2	T	A	3: 93,220,214	S2144R	unknown	Het
Fmo4	G	T	1: 162,798,852	S375*	probably null	Het
Fsip2	A	G	2: 82,986,891	T4323A	probably benign	Het
Gm11639	T	C	11: 104,881,469	V2659A	possibly damaging	Het
Gm16503	A	T	4: 147,541,310	H87L	unknown	Het
Hes7	C	T	11: 69,122,765	A150V	probably damaging	Het
Hk1	T	A	10: 62,296,699	N190I	probably benign	Het
Il17rc	A	G	6: 113,482,821	D576G	probably damaging	Het
Inhba	T	A	13: 16,026,275	S141T	possibly damaging	Het
Itga8	G	T	2: 12,155,486	D840E	probably benign	Het
Kazn	T	C	4: 142,154,551	E126G		Het
Kcnk13	A	G	12: 99,966,179	Y78C	probably damaging	Het
Kcnt1	C	A	2: 25,908,042		probably benign	Het
Krt42	G	C	11: 100,265,039	R294G	possibly damaging	Het
Myo9a	A	G	9: 59,780,091	K160E	probably benign	Het
Nlrp1b	T	C	11: 71,216,921	R585G	probably benign	Het
Ntrk2	T	C	13: 58,874,379	I416T	probably benign	Het
Olfr1080	G	A	2: 86,554,103	T7I	probably damaging	Het
Olfr1217	A	T	2: 89,023,628	I125N	probably damaging	Het
Olfr177	T	C	16: 58,872,691	N153S	probably benign	Het
Olfr652	T	A	7: 104,565,109	I296N	probably damaging	Het
Pcif1	A	G	2: 164,886,522	N233S	probably damaging	Het
Pgm2l1	C	A	7: 100,272,418	R619S	probably damaging	Het
Pkhd1l1	A	G	15: 44,512,834	Q964R	probably damaging	Het
Pla2g4a	T	A	1: 149,901,213	I89F	possibly damaging	Het
Ppp1cc	G	A	5: 122,174,088	A306T	probably benign	Het
Psmd4	T	C	3: 95,035,892	D67G	probably damaging	Het
Ptprt	G	A	2: 162,135,457	T307I	probably damaging	Het
Rnf213	C	A	11: 119,430,281	C1188*	probably null	Het
Ror2	C	T	13: 53,113,157	C426Y	probably damaging	Het
Sacs	C	T	14: 61,204,191	H1229Y	probably damaging	Het
Slc25a25	A	T	2: 32,421,505	L118Q	probably damaging	Het
Slc38a6	G	A	12: 73,350,603	A340T	probably benign	Het
Smarca5	A	T	8: 80,704,682	Y969N	probably damaging	Het
Sorbs1	C	A	19: 40,326,489	M626I	probably benign	Het
Spink5	T	A	18: 44,010,236	D753E	probably benign	Het
Taf1d	T	G	9: 15,310,399	I226S	probably damaging	Het
Tmem225	A	G	9: 40,149,393	I83V	possibly damaging	Het
Top2b	A	G	14: 16,412,986	D965G	probably damaging	Het
Traf3ip1	A	G	1: 91,501,419	K303E	probably damaging	Het
Ube2n	C	T	10: 95,541,382	R70C	probably benign	Het
Ubl7	C	T	9: 57,923,206	P312S	probably damaging	Het
Vmn1r34	A	T	6: 66,637,181	M191K	probably damaging	Het
Vmn2r103	C	T	17: 19,793,497	H184Y	probably benign	Het
Vmn2r104	T	C	17: 20,042,786	I138V	probably benign	Het
Vmn2r49	T	C	7: 9,986,481	E361G	possibly damaging	Het
Vmn2r78	T	C	7: 86,954,867	L751P	probably damaging	Het
Zc3h13	T	A	14: 75,330,630	I1121N	not run	Het
Zfp235	T	A	7: 24,141,689	V511E	probably benign	Het

Other mutations in P4ha3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01347:P4ha3	APN	7	100305933	missense	probably damaging	1.00
IGL01875:P4ha3	APN	7	100300652	missense	probably damaging	0.97
IGL02265:P4ha3	APN	7	100293932	missense	probably benign
IGL02957:P4ha3	APN	7	100318905	splice site	probably benign
IGL03279:P4ha3	APN	7	100300686	missense	probably damaging	1.00
R0006:P4ha3	UTSW	7	100318948	nonsense	probably null
R0880:P4ha3	UTSW	7	100305909	missense	probably benign	0.06
R1066:P4ha3	UTSW	7	100318063	missense	possibly damaging	0.77
R1118:P4ha3	UTSW	7	100313328	missense	probably damaging	0.99
R1119:P4ha3	UTSW	7	100313328	missense	probably damaging	0.99
R1236:P4ha3	UTSW	7	100293849	missense	probably damaging	1.00
R1613:P4ha3	UTSW	7	100313250	missense	possibly damaging	0.95
R1778:P4ha3	UTSW	7	100300691	splice site	probably null
R2042:P4ha3	UTSW	7	100300690	critical splice donor site	probably null
R3437:P4ha3	UTSW	7	100285624	missense	possibly damaging	0.93
R4393:P4ha3	UTSW	7	100305607	missense	probably benign	0.06
R5411:P4ha3	UTSW	7	100293815	missense	probably damaging	1.00
R5722:P4ha3	UTSW	7	100305991	missense	probably benign	0.03
R6209:P4ha3	UTSW	7	100317085	missense	probably benign	0.09
R6462:P4ha3	UTSW	7	100314666	missense	probably damaging	1.00
R6606:P4ha3	UTSW	7	100305644	missense	probably damaging	0.99
R7578:P4ha3	UTSW	7	100293914	missense	probably benign	0.02
R7769:P4ha3	UTSW	7	100285717	missense	probably damaging	0.97
R8090:P4ha3	UTSW	7	100300652	missense	probably damaging	0.97
R8296:P4ha3	UTSW	7	100317102	missense	probably damaging	1.00
R8379:P4ha3	UTSW	7	100293779	missense	probably damaging	0.99
R8501:P4ha3	UTSW	7	100313355	missense	probably damaging	1.00
R8516:P4ha3	UTSW	7	100314662	missense	probably damaging	0.97
R8692:P4ha3	UTSW	7	100306021	missense	probably damaging	0.99
RF033:P4ha3	UTSW	7	100310810	frame shift	probably null
Z1177:P4ha3	UTSW	7	100293788	missense	probably benign	0.25

Predicted Primers

PCR Primer
(F):5'- TGTAGCCAGCTCCTGATTTTAG -3'
(R):5'- TTAGCAAGAGGACTAACTCGATTGAC -3'

Sequencing Primer
(F):5'- GATTTTAGCAGTTCTCACCACAGCAG -3'
(R):5'- GACTAACTCGATTGACTTAAAGGAGC -3'

Posted On

2020-01-23