Mutagenetix > Incidental Mutation

Incidental Mutation 'R7183:P4htm'

559118

Institutional Source

Beutler Lab

Gene Symbol

P4htm

Ensembl Gene

ENSMUSG00000006675

Gene Name

prolyl 4-hydroxylase, transmembrane (endoplasmic reticulum)

Synonyms

P4h-tm, 4933406E20Rik

MMRRC Submission

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.096) question?

Stock #

R7183 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

108578862-108597667 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 108581860 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Lysine at position 291 (M291K)

Ref Sequence

ENSEMBL: ENSMUSP00000006853 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000006853] [ENSMUST00000068700] [ENSMUST00000193621]

AlphaFold

Q8BG58

Predicted Effect

possibly damaging
Transcript: ENSMUST00000006853
AA Change: M291K

PolyPhen 2 Score 0.948 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000006853
Gene: ENSMUSG00000006675
AA Change: M291K

Domain	Start	End	E-Value	Type
transmembrane domain	61	83	N/A	INTRINSIC
P4Hc	143	460	1.26e-19	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000068700

SMART Domains

Protein: ENSMUSP00000070927
Gene: ENSMUSG00000066357

Domain	Start	End	E-Value	Type
Blast:WD40	109	142	3e-6	BLAST
WD40	198	237	1.42e-4	SMART
WD40	247	284	7.28e-2	SMART
WD40	286	326	1.72e-3	SMART
Blast:WD40	336	375	3e-13	BLAST
WD40	479	519	2.96e1	SMART
low complexity region	537	552	N/A	INTRINSIC
WD40	559	598	1.77e2	SMART
Blast:WD40	600	641	7e-20	BLAST
Blast:WD40	764	815	2e-22	BLAST
Blast:WD40	855	896	2e-11	BLAST
WD40	900	949	1.48e1	SMART
WD40	973	1015	5.52e-2	SMART
WD40	1035	1076	3.98e0	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000192080

Predicted Effect

probably benign
Transcript: ENSMUST00000193621

SMART Domains

Protein: ENSMUSP00000141843
Gene: ENSMUSG00000006675

Domain	Start	End	E-Value	Type
transmembrane domain	61	83	N/A	INTRINSIC
Blast:P4Hc	143	211	5e-39	BLAST

Meta Mutation Damage Score

0.2793

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.2%

Validation Efficiency

100% (65/65)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The product of this gene belongs to the family of prolyl 4-hydroxylases. This protein is a prolyl hydroxylase that may be involved in the degradation of hypoxia-inducible transcription factors under normoxia. It plays a role in adaptation to hypoxia and may be related to cellular oxygen sensing. Alternatively spliced variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a gene trap allele exhibit decreased body weight, normal erythropoiesis, and cardioprotection after ischemia-reperfusion injury. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4931408C20Rik	G	A	1: 26,682,833	L1089F	probably benign	Het
Actn1	T	A	12: 80,168,932	M816L	possibly damaging	Het
Ahnak	T	C	19: 9,017,668	F5439L	probably damaging	Het
Apba2	G	A	7: 64,733,545	D369N	probably benign	Het
Arhgap32	A	G	9: 32,186,383	N228D	probably benign	Het
Arhgap33	T	A	7: 30,525,871		probably null	Het
Cacna1g	C	T	11: 94,439,737	C984Y	probably benign	Het
Cadm2	C	A	16: 66,882,832	G47*	probably null	Het
Ccdc125	A	G	13: 100,690,358	D241G	possibly damaging	Het
Ccdc39	T	G	3: 33,814,471	E822A	probably damaging	Het
Cd86	CA	CAA	16: 36,606,555		probably null	Het
Cdc42bpg	A	G	19: 6,310,797	D195G	probably damaging	Het
Cdkl1	T	C	12: 69,748,932	R275G	probably damaging	Het
Chst4	T	C	8: 110,029,998	N411S	possibly damaging	Het
Cir1	A	G	2: 73,286,386	V210A	probably damaging	Het
Col6a1	A	G	10: 76,716,259		probably null	Het
Crmp1	C	A	5: 37,288,817	H606N	probably benign	Het
Cyp2j8	A	T	4: 96,479,181	N233K	probably damaging	Het
Dennd1b	A	T	1: 139,170,252	Q677L	unknown	Het
Dnah17	G	A	11: 118,129,188	T11I	probably benign	Het
Ehd1	A	G	19: 6,297,654	H346R	probably benign	Het
Emc3	G	T	6: 113,531,384	Y33*	probably null	Het
Ercc5	A	T	1: 44,161,808		probably null	Het
Ercc5	G	T	1: 44,161,809		probably null	Het
Fat3	A	C	9: 15,922,837	I4153S	possibly damaging	Het
Fn3krp	T	C	11: 121,421,605		probably null	Het
Gm2035	G	A	12: 87,919,722	R46W	possibly damaging	Het
Gmnc	C	T	16: 26,960,529	D249N	probably benign	Het
Gsn	C	T	2: 35,294,948	A305V	probably benign	Het
Haus6	A	T	4: 86,583,752	H627Q	possibly damaging	Het
Heg1	A	G	16: 33,738,550		probably null	Het
Hoxd9	G	T	2: 74,698,365	V104L	possibly damaging	Het
Igkv10-96	A	C	6: 68,632,216	S32A	probably benign	Het
Kcnd2	G	A	6: 21,216,437	V47M	probably damaging	Het
Mab21l3	C	T	3: 101,815,153	V386M	probably damaging	Het
Masp2	A	G	4: 148,612,157	S404G	probably benign	Het
Olfr1024	T	A	2: 85,904,142	Q304L	probably benign	Het
Olfr1454	A	G	19: 13,064,316	I302V	probably benign	Het
Olfr835	G	T	9: 19,035,332	D70Y	probably damaging	Het
Pde6c	T	C	19: 38,133,090	S49P	probably benign	Het
Pdzd7	A	G	19: 45,037,114	V314A	probably benign	Het
Pfkl	G	A	10: 78,002,082	R31*	probably null	Het
Phlpp2	C	A	8: 109,939,953	P1038Q	probably damaging	Het
Pik3c2b	T	C	1: 133,066,465	S56P	probably benign	Het
Plec	A	G	15: 76,205,705	V145A	unknown	Het
Prg3	G	A	2: 84,991,504	V158I	probably benign	Het
Prg3	G	T	2: 84,993,023	D181Y	probably damaging	Het
Rbp3	A	G	14: 33,955,204	T370A	probably benign	Het
Rgl2	T	C	17: 33,934,990	F457L	possibly damaging	Het
Rubcnl	T	A	14: 75,049,626	M578K	probably damaging	Het
Siae	G	A	9: 37,616,946	V72M	possibly damaging	Het
Smchd1	A	T	17: 71,353,516	D1864E	probably benign	Het
Smox	T	C	2: 131,520,566	I255T	possibly damaging	Het
Tas2r123	A	G	6: 132,847,698	N186S	possibly damaging	Het
Thbs2	T	A	17: 14,690,116	I74F	possibly damaging	Het
Timm44	T	C	8: 4,267,311	D238G	probably damaging	Het
Tlk2	T	C	11: 105,221,359		probably null	Het
Tnc	A	G	4: 64,013,128	S782P	probably damaging	Het
Tpr	A	T	1: 150,406,551	K336N	probably damaging	Het
Uggt2	A	T	14: 119,019,637		probably null	Het
Vmn2r101	T	A	17: 19,612,178	I812N	probably damaging	Het
Vps33a	T	C	5: 123,535,215	Q436R	probably null	Het
Ywhaq	T	C	12: 21,416,869	K75E	possibly damaging	Het
Zfp87	A	G	13: 67,517,474	S290P	probably damaging	Het

Other mutations in P4htm

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01621:P4htm	APN	9	108583736	missense	probably damaging	1.00
IGL02205:P4htm	APN	9	108581962	missense	probably benign	0.08
IGL02756:P4htm	APN	9	108579778	missense	probably damaging	1.00
IGL02802:P4htm	UTSW	9	108582856	missense	probably benign	0.00
R0605:P4htm	UTSW	9	108583724	missense	probably null	0.17
R3922:P4htm	UTSW	9	108582895	missense	probably benign
R4562:P4htm	UTSW	9	108581996	missense	probably null	1.00
R4730:P4htm	UTSW	9	108579772	missense	possibly damaging	0.89
R4900:P4htm	UTSW	9	108579228	missense	probably damaging	1.00
R5027:P4htm	UTSW	9	108579293	missense	probably benign	0.16
R5124:P4htm	UTSW	9	108581942	missense	possibly damaging	0.59
R5633:P4htm	UTSW	9	108579723	missense	probably damaging	1.00
R5877:P4htm	UTSW	9	108583733	missense	possibly damaging	0.94
R5927:P4htm	UTSW	9	108597383	missense	probably damaging	1.00
R6163:P4htm	UTSW	9	108581951	missense	probably damaging	0.99
R6798:P4htm	UTSW	9	108582918	missense	possibly damaging	0.83
R6920:P4htm	UTSW	9	108583613	missense	probably benign	0.01
R6962:P4htm	UTSW	9	108579195	missense	possibly damaging	0.49
R7066:P4htm	UTSW	9	108596963	missense	probably damaging	0.98
R7376:P4htm	UTSW	9	108580792	missense	probably damaging	0.98
R7506:P4htm	UTSW	9	108583679	missense	probably damaging	1.00
R7533:P4htm	UTSW	9	108596937	missense	probably benign	0.02
R7874:P4htm	UTSW	9	108596949	missense	probably benign	0.01
R8453:P4htm	UTSW	9	108580367	unclassified	probably benign
R8705:P4htm	UTSW	9	108580041	missense	probably damaging	1.00
R9030:P4htm	UTSW	9	108597428	missense	probably benign	0.16
R9099:P4htm	UTSW	9	108583712	missense	probably benign	0.00
R9193:P4htm	UTSW	9	108582882	missense	probably damaging	0.98
R9367:P4htm	UTSW	9	108581948	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- GTTCAAGGGACAGGGATTCTCTG -3'
(R):5'- ACTGTGCTTCTCCACATTGG -3'

Sequencing Primer
(F):5'- ACTTGCTTTGTAGACCAGGC -3'
(R):5'- TCTCCACATTGGCCTGGCAG -3'

Posted On

2019-06-26