Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02802:P4htm'

392099

Institutional Source

Beutler Lab

Gene Symbol

P4htm

Ensembl Gene

ENSMUSG00000006675

Gene Name

prolyl 4-hydroxylase, transmembrane (endoplasmic reticulum)

Synonyms

4933406E20Rik, P4h-tm

Accession Numbers

Essential gene?

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

Stock #

IGL02802 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

108456061-108474866 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 108460055 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Asparagine at position 240 (D240N)

Ref Sequence

ENSEMBL: ENSMUSP00000006853 (fasta)

Gene Model

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

AlphaFold

Q8BG58

Predicted Effect

probably benign
Transcript: ENSMUST00000006853
AA Change: D240N

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)

SMART Domains

Protein: ENSMUSP00000006853
Gene: ENSMUSG00000006675
AA Change: D240N

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

noncoding transcript
Transcript: ENSMUST00000191674

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000194112

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000194900

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000195181

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000227071

Meta Mutation Damage Score

0.1150

Coding Region Coverage

1x: 0.0%
3x: 0.0%
10x: 0.0%
20x: 0.0%

Validation Efficiency

100% (63/63)

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: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
AA986860	A	C	1: 130,671,130 (GRCm39)	T451P	probably benign	Het
Actbl2	A	G	13: 111,392,310 (GRCm39)	E215G	probably damaging	Het
Adh6b	A	G	3: 138,058,545 (GRCm39)	T198A	possibly damaging	Het
Bicd2	A	G	13: 49,531,804 (GRCm39)	K349E	probably damaging	Het
Bsnd	T	A	4: 106,349,231 (GRCm39)	D3V	probably damaging	Het
Cd83	T	A	13: 43,953,147 (GRCm39)	L142Q	probably null	Het
Cdh20	A	G	1: 110,065,655 (GRCm39)	E643G	probably damaging	Het
Ces1b	T	G	8: 93,783,594 (GRCm39)	E542A	possibly damaging	Het
Cfhr2	A	G	1: 139,738,762 (GRCm39)		probably benign	Het
Clip1	T	C	5: 123,769,186 (GRCm39)	D471G	probably damaging	Het
Cntn5	C	A	9: 10,048,683 (GRCm39)		probably null	Het
Cntnap2	A	T	6: 46,147,179 (GRCm39)	D475V	probably damaging	Het
Cntnap5c	T	C	17: 58,612,679 (GRCm39)	F906S	probably benign	Het
Cobll1	A	T	2: 64,928,663 (GRCm39)	S888T	probably damaging	Het
Csf2rb	G	A	15: 78,223,103 (GRCm39)	R105Q	probably benign	Het
Ctnnd1	C	A	2: 84,454,806 (GRCm39)	M1I	probably null	Het
Cxxc1	C	T	18: 74,352,481 (GRCm39)	Q354*	probably null	Het
Dnhd1	A	G	7: 105,304,930 (GRCm39)	D324G	possibly damaging	Het
Donson	T	C	16: 91,478,196 (GRCm39)	D435G	possibly damaging	Het
Ephb1	T	C	9: 101,887,218 (GRCm39)	K474E	possibly damaging	Het
Erbin	A	G	13: 104,004,638 (GRCm39)	L130P	probably damaging	Het
Fam221a	C	T	6: 49,355,411 (GRCm39)	T171I	probably damaging	Het
Farp2	A	G	1: 93,456,332 (GRCm39)	E5G	probably damaging	Het
Fblim1	A	G	4: 141,317,431 (GRCm39)	S85P	possibly damaging	Het
Fhl2	A	T	1: 43,162,761 (GRCm39)	C251*	probably null	Het
Glis2	T	C	16: 4,429,735 (GRCm39)		probably null	Het
Gm10715	A	C	9: 3,038,062 (GRCm39)		probably benign	Het
Gm10717	C	T	9: 3,031,999 (GRCm39)	P127S	probably benign	Het
Heatr6	T	C	11: 83,651,762 (GRCm39)	L246P	probably damaging	Het
Igkv5-39	G	A	6: 69,877,457 (GRCm39)	P100S	probably benign	Het
Jup	T	C	11: 100,269,204 (GRCm39)	D403G	probably benign	Het
Kank1	T	C	19: 25,388,963 (GRCm39)	Y879H	probably damaging	Het
Kcna3	G	A	3: 106,944,369 (GRCm39)	E211K	probably damaging	Het
Klc3	A	T	7: 19,129,049 (GRCm39)	I440N	possibly damaging	Het
Mmp1b	T	C	9: 7,384,709 (GRCm39)	T280A	probably benign	Het
Nat3	A	T	8: 68,000,160 (GRCm39)	Q13L	probably benign	Het
Nckap1l	A	G	15: 103,372,963 (GRCm39)	N272S	probably benign	Het
Nrn1	C	A	13: 36,914,080 (GRCm39)		probably null	Het
Nsd3	T	C	8: 26,130,922 (GRCm39)	S96P	probably damaging	Het
Ntaq1	A	G	15: 58,011,833 (GRCm39)	S65G	probably benign	Het
Nudt16l1	C	T	16: 4,757,131 (GRCm39)	R43C	probably damaging	Het
Obscn	T	A	11: 58,891,310 (GRCm39)	Q7074L	unknown	Het
Or4p20	A	G	2: 88,253,832 (GRCm39)	V179A	probably benign	Het
Or5m12	A	G	2: 85,734,733 (GRCm39)	S222P	probably damaging	Het
Or5p78	A	T	7: 108,211,669 (GRCm39)	I52F	probably damaging	Het
Or6c206	T	A	10: 129,097,136 (GRCm39)		probably null	Het
Or8b37	T	G	9: 37,959,345 (GRCm39)	Y276D	probably damaging	Het
Or8k30	T	A	2: 86,339,290 (GRCm39)	N162K	probably benign	Het
Plekhm2	A	T	4: 141,369,835 (GRCm39)		probably benign	Het
Plppr5	T	C	3: 117,456,228 (GRCm39)	S250P	probably damaging	Het
Pmis2	T	C	7: 30,370,919 (GRCm39)	K12E	probably benign	Het
Ppox	A	T	1: 171,105,066 (GRCm39)	L374*	probably null	Het
Rcc1	C	T	4: 132,065,067 (GRCm39)	R139H	probably benign	Het
Speer4c1	A	C	5: 15,919,214 (GRCm39)		probably benign	Het
Tdo2	A	G	3: 81,883,004 (GRCm39)		probably benign	Het
Tent2	A	T	13: 93,285,449 (GRCm39)	N436K	probably damaging	Het
Thbs2	A	G	17: 14,904,389 (GRCm39)	I326T	probably benign	Het
Thrap3	T	C	4: 126,059,157 (GRCm39)		probably benign	Het
Ttc6	A	T	12: 57,622,654 (GRCm39)	M18L	probably benign	Het
Ttn	C	T	2: 76,604,924 (GRCm39)	V18337I	probably damaging	Het
Txndc2	A	G	17: 65,946,601 (GRCm39)	S34P	possibly damaging	Het
Vps72	T	A	3: 95,026,545 (GRCm39)	C163*	probably null	Het
Zfp831	T	A	2: 174,486,945 (GRCm39)	I540N	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
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
R9030:P4htm	UTSW	9	108,474,627 (GRCm39)	missense	probably benign	0.16
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'- GGCTCCAGCTGAATTTTCACTC -3'
(R):5'- TGAACTGCACTGAGATCTCG -3'

Sequencing Primer
(F):5'- AGCTGAATTTTCACTCTAGGTTCG -3'
(R):5'- ACTGAGATCTCGGCGTTCCTG -3'

Posted On

2016-06-09