Mutagenetix > Incidental Mutation

Incidental Mutation 'RF018:P4ha2'

603689

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

Essential gene?

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

Stock #

RF018 (G1)

Quality Score

214.501

Status

Not validated

Chromosome

Chromosomal Location

53991750-54022494 bp(+) (GRCm39)

Type of Mutation

frame shift

DNA Base Change (assembly)

TGTTGG to T at 54001072 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

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

probably null
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 null
Transcript: ENSMUST00000093107

SMART Domains

Protein: ENSMUSP00000091749
Gene: ENSMUSG00000018906

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 null
Transcript: ENSMUST00000125132

Predicted Effect

probably null
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 null
Transcript: ENSMUST00000129499

SMART Domains

Protein: ENSMUSP00000115245
Gene: ENSMUSG00000018906

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

Predicted Effect

probably null
Transcript: ENSMUST00000135653

SMART Domains

Protein: ENSMUSP00000119861
Gene: ENSMUSG00000018906

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

Predicted Effect

probably null
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 null
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

probably null
Transcript: ENSMUST00000174616

SMART Domains

Protein: ENSMUSP00000133275
Gene: ENSMUSG00000018906

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: 99.8%
3x: 99.7%
10x: 99.3%
20x: 98.6%

Validation Efficiency

100% (54/54)

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: 75 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A030005L19Rik	GTGGCTGCT	GTGGCTGCTTTGGCTGCT	1: 82,891,293 (GRCm39)		probably benign	Het
Abca15	T	A	7: 119,993,683 (GRCm39)	V1301E	possibly damaging	Het
Adcy10	T	A	1: 165,379,678 (GRCm39)	V980E	probably damaging	Het
Aldh1a2	T	C	9: 71,192,552 (GRCm39)	V469A	probably damaging	Het
Alk	T	A	17: 72,256,808 (GRCm39)	T684S	probably benign	Het
Ankhd1	GGCGGC	GGCGGCAGCGGC	18: 36,693,965 (GRCm39)		probably benign	Het
Anks1b	G	A	10: 89,869,087 (GRCm39)	G49D	probably damaging	Het
Blm	CCTCCTCC	CCTCCTCCTCCTACTCCTCC	7: 80,162,674 (GRCm39)		probably null	Het
Btnl10	CAAA	CAAAAAA	11: 58,814,752 (GRCm39)		probably benign	Het
Ccdc81	C	A	7: 89,515,906 (GRCm39)		probably null	Het
Cd209g	A	G	8: 4,187,398 (GRCm39)	Y194C	probably benign	Het
Cenpc1	A	T	5: 86,193,228 (GRCm39)	S220R	possibly damaging	Het
Ddx42	A	T	11: 106,123,630 (GRCm39)		probably null	Het
Dock4	GTGCCGGTGCCCGT	G	12: 40,894,398 (GRCm39)		probably null	Het
Eif5b	A	T	1: 38,060,673 (GRCm39)		probably null	Het
Ell2	C	A	13: 75,911,727 (GRCm39)	H338N	probably damaging	Het
Entpd2	CTT	CTTT	2: 25,290,907 (GRCm39)		probably null	Het
Flywch1	CCACTCCTGGTGT	CCACTCCTGGTGTGGGGAGGCTACGTACTCACGCACTCCTGGTGT	17: 23,981,140 (GRCm39)		probably null	Het
Gm8369	GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG	GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG	19: 11,489,106 (GRCm39)		probably null	Het
Gnat2	T	C	3: 108,003,645 (GRCm39)	S107P	unknown	Het
Guk1	T	A	11: 59,077,234 (GRCm39)	D70V	probably benign	Het
Itpkb	C	T	1: 180,160,887 (GRCm39)	R338W	probably damaging	Het
Krtap28-10	ACCACAGCCACAGCCACCACAGCCACAGCC	ACCACAGCCACAGCCCCCACAGCCACAGCCACCACAGCCACAGCC	1: 83,019,974 (GRCm39)		probably benign	Het
Lamp3	A	C	16: 19,520,000 (GRCm39)	I61R	probably benign	Het
Lrch1	GCTGGTGGTGT	G	14: 75,184,995 (GRCm39)		probably null	Het
Lrp1b	C	T	2: 41,000,919 (GRCm39)	E2216K		Het
Lrrc27	A	G	7: 138,806,016 (GRCm39)	D227G	probably benign	Het
Lrrk1	C	T	7: 66,031,250 (GRCm39)	G16E	possibly damaging	Het
Lrrtm1	T	A	6: 77,221,334 (GRCm39)	S264T	possibly damaging	Het
Lypd8	CCAATCACCAACA	CCAATCACCAACAGTTTCCTCGCCTCTGTTACCCCACCAATCACCAACA	11: 58,281,058 (GRCm39)		probably benign	Het
Mamld1	CAG	CAGAAG	X: 70,162,455 (GRCm39)		probably benign	Het
Mpo	G	C	11: 87,688,465 (GRCm39)	A375P	probably damaging	Het
Myo9a	A	G	9: 59,776,869 (GRCm39)	H1089R	probably benign	Het
Nalf2	CGCCGC	CGCCGCTGCCGC	X: 98,864,967 (GRCm39)		probably benign	Het
Ndufc2	T	C	7: 97,056,228 (GRCm39)	*109Q	probably null	Het
Nudt16	A	T	9: 105,008,898 (GRCm39)	Y28N	probably damaging	Het
Nudt4	A	T	10: 95,385,675 (GRCm39)		probably null	Het
Nusap1	AGATACACGTTAGCAGTGAGGAGCAAGCTG	AGATACACGTTAGCAGTGAGGAGCAAGCTGCGATACACGTTAGCAGTGAGGAGCAAGCTG	2: 119,458,059 (GRCm39)		probably benign	Het
Or2ag15	T	A	7: 106,340,692 (GRCm39)	I150F	probably benign	Het
P2ry12	T	A	3: 59,124,833 (GRCm39)	T281S	probably benign	Het
Pcnx2	A	G	8: 126,604,258 (GRCm39)	V666A	probably damaging	Het
Pde6a	T	A	18: 61,364,475 (GRCm39)	I177N	possibly damaging	Het
Pgm1	A	T	4: 99,819,500 (GRCm39)		probably null	Het
Plce1	T	A	19: 38,705,651 (GRCm39)	W1019R	probably damaging	Het
Plch1	C	A	3: 63,628,636 (GRCm39)	K542N	probably damaging	Het
Plekhj1	T	C	10: 80,632,471 (GRCm39)	Q113R	not run	Het
Postn	A	T	3: 54,291,913 (GRCm39)	I705F	probably damaging	Het
Ppp1r15b	G	T	1: 133,059,352 (GRCm39)		probably benign	Het
Prkab1	T	C	5: 116,159,689 (GRCm39)	E59G	probably damaging	Het
Qrfprl	T	A	6: 65,433,174 (GRCm39)	Y331*	probably null	Het
Raph1	GG	GGGGG	1: 60,528,426 (GRCm39)		probably benign	Het
Rassf6	AGCAATGGGGATTC	AGCAATGGGGATTCTGCCTCACTCATGGTCCTGTAGCGCAATGGGGATTC	5: 90,756,788 (GRCm39)		probably benign	Het
Rnf144a	TCTC	TCTCTCTCTCTCTCTCACTC	12: 26,364,013 (GRCm39)		probably benign	Het
Ros1	T	A	10: 52,031,217 (GRCm39)	M484L	probably benign	Het
Rpa1	GCTGCTGCC	GC	11: 75,209,343 (GRCm39)		probably null	Het
Sectm1b	A	G	11: 120,945,756 (GRCm39)	V195A	probably benign	Het
Sirpa	TCATCAG	T	2: 129,451,123 (GRCm39)		probably null	Het
Slc28a1	T	A	7: 80,819,032 (GRCm39)		probably null	Het
Sphk1	G	C	11: 116,425,771 (GRCm39)	S42T	possibly damaging	Het
Spta1	T	C	1: 174,036,885 (GRCm39)	L1132P	probably damaging	Het
Srrt	A	T	5: 137,298,262 (GRCm39)	N303K	probably benign	Het
Ssh2	A	G	11: 77,344,880 (GRCm39)	E955G	probably damaging	Het
Strn	CCAGTC	CCAGTCCGTGCTCCCTTACCCCAGTCCGTGCTCCCTTACCACAGTC	17: 78,984,712 (GRCm39)		probably null	Het
Tchhl1	T	C	3: 93,377,691 (GRCm39)	F132L	probably benign	Het
Tex14	A	G	11: 87,405,572 (GRCm39)	E828G	probably benign	Het
Tfeb	CAG	CAGGAG	17: 48,097,020 (GRCm39)		probably benign	Het
Tmtc1	T	C	6: 148,149,009 (GRCm39)	Y699C	probably damaging	Het
Ubn1	A	G	16: 4,882,256 (GRCm39)	Y239C	probably damaging	Het
Vmn2r23	T	G	6: 123,690,075 (GRCm39)	L317R	probably benign	Het
Vmn2r78	C	T	7: 86,603,639 (GRCm39)	R606*	probably null	Het
Vps72	T	G	3: 95,028,719 (GRCm39)		probably null	Het
Zc3h11a	A	G	1: 133,554,853 (GRCm39)	S376P	possibly damaging	Het
Zfp384	GCCCAGGC	GCCCAGGCCCAGTCCCAGGC	6: 125,013,452 (GRCm39)		probably benign	Het
Zfp598	CAACCAC	CAACCACAACCAC	17: 24,899,745 (GRCm39)		probably benign	Het
Zfp628	TACTCCTCCACCC	T	7: 4,923,948 (GRCm39)		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
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
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'- ATCCCCTGGGTGATCCTGAATG -3'
(R):5'- TCCCTGGACTGGTCAAAATCAC -3'

Sequencing Primer
(F):5'- ATTTGTCTTCTCGCAGGGTC -3'
(R):5'- GGACTGGTCAAAATCACTGACTAAAC -3'

Posted On

2019-12-04