Mutagenetix > Incidental Mutation

Incidental Mutation 'R9030:P4htm'

686997

Institutional Source

Beutler Lab

Gene Symbol

P4htm

Ensembl Gene

ENSMUSG00000006675

Gene Name

prolyl 4-hydroxylase, transmembrane (endoplasmic reticulum)

Synonyms

4933406E20Rik, P4h-tm

MMRRC Submission

068859-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.100) question?

Stock #

R9030 (G1)

Quality Score

194.009

Status

Validated

Chromosome

Chromosomal Location

108456061-108474866 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 108474627 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Proline to Leucine at position 46 (P46L)

Ref Sequence

ENSEMBL: ENSMUSP00000006853 (fasta)

Gene Model

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

AlphaFold

Q8BG58

Predicted Effect

probably benign
Transcript: ENSMUST00000006853
AA Change: P46L

PolyPhen 2 Score 0.158 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000006853
Gene: ENSMUSG00000006675
AA Change: P46L

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: ENSMUST00000192080

Predicted Effect

probably benign
Transcript: ENSMUST00000193621
AA Change: P46L

PolyPhen 2 Score 0.104 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000141843
Gene: ENSMUSG00000006675
AA Change: P46L

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.1%

Validation Efficiency

100% (57/57)

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: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Actr5	A	C	2: 158,474,321 (GRCm39)	I375L	probably benign	Het
Adgrl2	G	T	3: 148,544,761 (GRCm39)	T778K	possibly damaging	Het
Ccn3	A	T	15: 54,615,687 (GRCm39)	Y284F	probably damaging	Het
Cdc73	A	T	1: 143,485,234 (GRCm39)	L478H	probably damaging	Het
Cdh20	C	A	1: 110,027,843 (GRCm39)	H529Q	probably benign	Het
Cep55	T	C	19: 38,059,592 (GRCm39)		probably null	Het
Chd9	G	A	8: 91,683,198 (GRCm39)	R546Q	unknown	Het
Ddit4	A	T	10: 59,786,515 (GRCm39)	L178Q	probably damaging	Het
Dgke	A	T	11: 88,941,237 (GRCm39)	N315K	possibly damaging	Het
Dsg1a	A	G	18: 20,473,549 (GRCm39)	D874G	probably damaging	Het
Dsp	T	A	13: 38,352,673 (GRCm39)	Y184N	probably damaging	Het
Dynlt1c	A	G	17: 6,870,916 (GRCm39)	I20V	probably benign	Het
Ephx4	A	G	5: 107,577,549 (GRCm39)	H291R	possibly damaging	Het
Epx	A	T	11: 87,763,470 (GRCm39)	M250K	probably benign	Het
Fan1	T	C	7: 64,022,761 (GRCm39)	Y164C	probably benign	Het
Fer1l6	A	T	15: 58,502,594 (GRCm39)	Y1365F	probably damaging	Het
Fndc8	A	G	11: 82,789,522 (GRCm39)	T227A	probably benign	Het
Gbp7	T	C	3: 142,243,798 (GRCm39)	I115T	probably damaging	Het
Gm5145	A	G	17: 20,791,270 (GRCm39)	E216G	probably benign	Het
Gm94	A	T	18: 43,914,326 (GRCm39)	F77L	possibly damaging	Het
Grik3	C	A	4: 125,526,185 (GRCm39)	H139Q	probably benign	Het
Gucy2e	T	C	11: 69,115,827 (GRCm39)	T852A	probably damaging	Het
Hif1a	T	C	12: 73,983,010 (GRCm39)	S274P	probably damaging	Het
Hmcn1	T	A	1: 150,692,870 (GRCm39)	I268L	probably benign	Het
Klk15	C	T	7: 43,587,790 (GRCm39)	H73Y	possibly damaging	Het
Lin52	T	A	12: 84,592,681 (GRCm39)	S87T		Het
Lrrc74b	A	G	16: 17,367,640 (GRCm39)		probably null	Het
Mapk10	T	C	5: 103,144,499 (GRCm39)	K136R	probably damaging	Het
Nlrp2	A	T	7: 5,325,457 (GRCm39)	N738K	probably null	Het
Nlrp5	A	T	7: 23,129,573 (GRCm39)	Q880L	possibly damaging	Het
Or2y11	T	A	11: 49,442,808 (GRCm39)	V78E	probably damaging	Het
Or5d39	A	T	2: 87,979,718 (GRCm39)	I215N	possibly damaging	Het
Or6c215	G	T	10: 129,637,926 (GRCm39)	P156Q	probably damaging	Het
Pcsk4	A	T	10: 80,164,858 (GRCm39)	H69Q	probably damaging	Het
Pdzd2	A	G	15: 12,374,385 (GRCm39)	S1917P	probably benign	Het
Pnpla5	A	G	15: 83,998,087 (GRCm39)	V385A	possibly damaging	Het
Prorp	T	C	12: 55,426,192 (GRCm39)	F514S	probably damaging	Het
Rims2	C	T	15: 39,339,873 (GRCm39)	R856C	probably damaging	Het
Rprd2	A	G	3: 95,691,622 (GRCm39)	Y218H	probably benign	Het
Sat2	T	A	11: 69,513,069 (GRCm39)		probably benign	Het
Sf1	C	T	19: 6,426,336 (GRCm39)	R186C		Het
Snrnp200	A	G	2: 127,053,466 (GRCm39)		probably benign	Het
Sqor	A	T	2: 122,629,514 (GRCm39)	D124V	probably benign	Het
Ssh2	A	G	11: 77,312,062 (GRCm39)	H191R	possibly damaging	Het
Stac	C	A	9: 111,519,320 (GRCm39)		probably benign	Het
Svs4	T	C	2: 164,119,058 (GRCm39)	M93V	unknown	Het
Tbc1d32	A	T	10: 56,037,241 (GRCm39)	S668T	possibly damaging	Het
Tex10	A	G	4: 48,452,056 (GRCm39)	F690S	probably damaging	Het
Tex30	A	G	1: 44,130,356 (GRCm39)	M88T		Het
Tgfbrap1	T	C	1: 43,095,837 (GRCm39)	T534A	probably benign	Het
Tmco1	C	T	1: 167,136,132 (GRCm39)		probably benign	Het
Tnrc18	T	C	5: 142,711,818 (GRCm39)	E2647G	probably damaging	Het
Trim43a	GATTTATTTATTTATTTATTTATTTATTTATTTATTTATT	GATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATT	9: 88,465,042 (GRCm39)		probably benign	Het
Tubb3	A	T	8: 124,145,696 (GRCm39)	R62W	probably damaging	Het
Vmn2r108	A	G	17: 20,690,312 (GRCm39)	S507P	probably benign	Het
Vmn2r116	A	G	17: 23,603,864 (GRCm39)	K30E	possibly damaging	Het
Vmn2r14	G	A	5: 109,368,054 (GRCm39)	H313Y	probably damaging	Het
Wdr37	C	T	13: 8,885,424 (GRCm39)	V340M	probably damaging	Het
Zfp799	A	G	17: 33,039,565 (GRCm39)	F234L	possibly damaging	Het

Other mutations in P4htm

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01621:P4htm	APN	9	108,460,935 (GRCm39)	missense	probably damaging	1.00
IGL02205:P4htm	APN	9	108,459,161 (GRCm39)	missense	probably benign	0.08
IGL02756:P4htm	APN	9	108,456,977 (GRCm39)	missense	probably damaging	1.00
IGL02802:P4htm	UTSW	9	108,460,055 (GRCm39)	missense	probably benign	0.00
R0605:P4htm	UTSW	9	108,460,923 (GRCm39)	missense	probably null	0.17
R3922:P4htm	UTSW	9	108,460,094 (GRCm39)	missense	probably benign
R4562:P4htm	UTSW	9	108,459,195 (GRCm39)	missense	probably null	1.00
R4730:P4htm	UTSW	9	108,456,971 (GRCm39)	missense	possibly damaging	0.89
R4900:P4htm	UTSW	9	108,456,427 (GRCm39)	missense	probably damaging	1.00
R5027:P4htm	UTSW	9	108,456,492 (GRCm39)	missense	probably benign	0.16
R5124:P4htm	UTSW	9	108,459,141 (GRCm39)	missense	possibly damaging	0.59
R5633:P4htm	UTSW	9	108,456,922 (GRCm39)	missense	probably damaging	1.00
R5877:P4htm	UTSW	9	108,460,932 (GRCm39)	missense	possibly damaging	0.94
R5927:P4htm	UTSW	9	108,474,582 (GRCm39)	missense	probably damaging	1.00
R6163:P4htm	UTSW	9	108,459,150 (GRCm39)	missense	probably damaging	0.99
R6798:P4htm	UTSW	9	108,460,117 (GRCm39)	missense	possibly damaging	0.83
R6920:P4htm	UTSW	9	108,460,812 (GRCm39)	missense	probably benign	0.01
R6962:P4htm	UTSW	9	108,456,394 (GRCm39)	missense	possibly damaging	0.49
R7066:P4htm	UTSW	9	108,474,162 (GRCm39)	missense	probably damaging	0.98
R7183:P4htm	UTSW	9	108,459,059 (GRCm39)	missense	possibly damaging	0.95
R7376:P4htm	UTSW	9	108,457,991 (GRCm39)	missense	probably damaging	0.98
R7506:P4htm	UTSW	9	108,460,878 (GRCm39)	missense	probably damaging	1.00
R7533:P4htm	UTSW	9	108,474,136 (GRCm39)	missense	probably benign	0.02
R7874:P4htm	UTSW	9	108,474,148 (GRCm39)	missense	probably benign	0.01
R8453:P4htm	UTSW	9	108,457,566 (GRCm39)	unclassified	probably benign
R8705:P4htm	UTSW	9	108,457,240 (GRCm39)	missense	probably damaging	1.00
R9099:P4htm	UTSW	9	108,460,911 (GRCm39)	missense	probably benign	0.00
R9193:P4htm	UTSW	9	108,460,081 (GRCm39)	missense	probably damaging	0.98
R9367:P4htm	UTSW	9	108,459,147 (GRCm39)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- GGGATGTTCTTACCTTGATGCC -3'
(R):5'- ATCTCAGTATGGACCGATGGG -3'

Sequencing Primer
(F):5'- CAAGGTTGGCACTGGCTG -3'
(R):5'- TCCGTGTAGGCACAGCATC -3'

Posted On

2021-11-19