Mutagenetix > Incidental Mutation

Incidental Mutation 'R6798:P4htm'

533122

Institutional Source

Beutler Lab

Gene Symbol

P4htm

Ensembl Gene

ENSMUSG00000006675

Gene Name

prolyl 4-hydroxylase, transmembrane (endoplasmic reticulum)

Synonyms

4933406E20Rik, P4h-tm

MMRRC Submission

044911-MU

Accession Numbers

Essential gene?

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

Stock #

R6798 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

108456061-108474866 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 108460117 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Isoleucine at position 219 (N219I)

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: N219I

PolyPhen 2 Score 0.829 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000006853
Gene: ENSMUSG00000006675
AA Change: N219I

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

0.1795

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.3%
20x: 95.4%

Validation Efficiency

97% (73/75)

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: 74 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb1a	T	C	5: 8,782,364 (GRCm39)	Y916H	probably damaging	Het
Adam11	A	G	11: 102,667,834 (GRCm39)	I740V	probably damaging	Het
Adam22	A	T	5: 8,210,784 (GRCm39)	D161E	probably damaging	Het
Agap3	A	G	5: 24,703,280 (GRCm39)		probably null	Het
Ank2	T	C	3: 126,737,913 (GRCm39)		probably benign	Het
Aspm	T	A	1: 139,396,423 (GRCm39)	H867Q	possibly damaging	Het
Aurkaip1	T	C	4: 155,917,196 (GRCm39)		probably null	Het
BC048507	A	C	13: 68,011,683 (GRCm39)	D20A	probably benign	Het
Cacna1a	G	A	8: 85,338,231 (GRCm39)	A1704T	probably damaging	Het
Cep152	A	C	2: 125,408,447 (GRCm39)		probably null	Het
Cep19	T	C	16: 31,922,867 (GRCm39)		probably null	Het
Cfhr4	T	C	1: 139,625,859 (GRCm39)	T813A	probably benign	Het
Chd9	A	T	8: 91,778,182 (GRCm39)	E2731V	possibly damaging	Het
Chrd	T	C	16: 20,553,056 (GRCm39)	L139P	probably damaging	Het
Cit	A	G	5: 116,064,585 (GRCm39)	E489G	possibly damaging	Het
Clcn7	A	G	17: 25,378,734 (GRCm39)	N720D	probably damaging	Het
Col6a3	T	C	1: 90,722,731 (GRCm39)		probably null	Het
Dchs2	T	A	3: 83,255,593 (GRCm39)	Y2430N	probably damaging	Het
Dpy30	A	G	17: 74,614,751 (GRCm39)	I64T	probably damaging	Het
Eif2b3	G	T	4: 116,923,655 (GRCm39)	W290L	probably benign	Het
Epha6	T	G	16: 60,425,427 (GRCm39)	E62A	possibly damaging	Het
Epha6	C	T	16: 60,425,428 (GRCm39)	E62K	possibly damaging	Het
Epha8	C	T	4: 136,672,980 (GRCm39)	R268Q	probably benign	Het
Fbxw17	C	A	13: 50,587,300 (GRCm39)		probably null	Het
Fndc8	C	T	11: 82,783,217 (GRCm39)	T66I	probably benign	Het
Frmpd1	A	G	4: 45,284,850 (GRCm39)	T1224A	probably benign	Het
Gcm2	T	C	13: 41,259,361 (GRCm39)	D36G	probably damaging	Het
Glt28d2	T	C	3: 85,779,296 (GRCm39)	D59G	probably benign	Het
Gorasp1	T	C	9: 119,758,663 (GRCm39)	D243G	probably benign	Het
Gtsf1l	T	C	2: 162,929,391 (GRCm39)	K31E	probably benign	Het
Heatr5a	A	G	12: 51,928,048 (GRCm39)	V1816A	probably benign	Het
Il10ra	T	C	9: 45,167,730 (GRCm39)	K274E	probably damaging	Het
Il1rl2	T	C	1: 40,404,400 (GRCm39)	I507T	probably damaging	Het
Jak3	T	G	8: 72,133,615 (GRCm39)	F408V	probably damaging	Het
Kdm1b	A	G	13: 47,222,012 (GRCm39)	T484A	probably benign	Het
Lama5	G	A	2: 179,833,455 (GRCm39)	P1519L	probably damaging	Het
Map9	T	G	3: 82,287,471 (GRCm39)	L31W	probably damaging	Het
Mical2	T	C	7: 111,975,266 (GRCm39)		probably benign	Het
Mt1	A	G	8: 94,906,516 (GRCm39)		probably benign	Het
Myo18b	T	C	5: 112,909,252 (GRCm39)	I1964V	probably damaging	Het
Nalf1	G	A	8: 9,820,205 (GRCm39)	Q272*	probably null	Het
Nod1	A	T	6: 54,921,596 (GRCm39)	C241S	probably damaging	Het
Nrxn1	T	A	17: 90,937,378 (GRCm39)	D685V	probably damaging	Het
Oog1	A	T	12: 87,655,609 (GRCm39)		probably null	Het
Or11a4	T	G	17: 37,536,697 (GRCm39)	L227R	probably damaging	Het
Or2ag13	T	C	7: 106,313,402 (GRCm39)	Y162C	probably damaging	Het
Or4k2	A	G	14: 50,424,584 (GRCm39)	V30A	probably benign	Het
Or56b1b	T	A	7: 108,164,967 (GRCm39)	K12*	probably null	Het
Pcif1	T	C	2: 164,727,711 (GRCm39)	L168P	possibly damaging	Het
Pde4dip	A	G	3: 97,795,850 (GRCm39)	V46A	probably benign	Het
Pias1	T	C	9: 62,799,451 (GRCm39)	T480A	probably benign	Het
Prkd2	A	T	7: 16,583,128 (GRCm39)	K297*	probably null	Het
Prl7d1	T	A	13: 27,893,380 (GRCm39)		probably null	Het
Pxdc1	G	T	13: 34,836,408 (GRCm39)	A4E	possibly damaging	Het
Rcor1	A	G	12: 111,006,320 (GRCm39)		probably benign	Het
Rev3l	A	T	10: 39,730,759 (GRCm39)	D2761V	probably damaging	Het
Scgb1b7	A	G	7: 31,412,406 (GRCm39)	T61A	probably damaging	Het
Sec14l2	A	G	11: 4,061,213 (GRCm39)	Y83H	probably damaging	Het
Setd4	C	A	16: 93,386,841 (GRCm39)	V286F	probably damaging	Het
Slc22a29	A	G	19: 8,137,968 (GRCm39)	S536P	probably benign	Het
Snx25	T	C	8: 46,486,810 (GRCm39)	H977R	probably damaging	Het
Spint5	T	A	2: 164,559,060 (GRCm39)	C95*	probably null	Het
Sprr5	G	C	3: 92,440,243 (GRCm39)	C65W	unknown	Het
Srgap1	T	C	10: 121,761,809 (GRCm39)	D113G	probably damaging	Het
Stxbp2	T	A	8: 3,691,180 (GRCm39)	S476T	probably benign	Het
Tg	A	G	15: 66,550,688 (GRCm39)	T273A	probably damaging	Het
Tnc	C	T	4: 63,883,841 (GRCm39)	R1868H	probably benign	Het
Trappc10	A	G	10: 78,024,665 (GRCm39)	Y1155H	probably benign	Het
Trpm2	T	A	10: 77,750,574 (GRCm39)	N1341Y	probably damaging	Het
Vmn2r111	T	C	17: 22,778,032 (GRCm39)	N549S	possibly damaging	Het
Zfand1	T	G	3: 10,411,236 (GRCm39)	K67T	probably benign	Het
Zfand4	A	C	6: 116,305,214 (GRCm39)	K214Q	probably benign	Het
Zfp653	A	T	9: 21,968,668 (GRCm39)	V465E	probably damaging	Het
Zswim8	A	G	14: 20,766,060 (GRCm39)	Y782C	probably 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
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'- TCAAAGCTGGGCATGAAAGC -3'
(R):5'- TCTGGGGATGGATATAGCCC -3'

Sequencing Primer
(F):5'- TGGGCATGAAAGCTGCCTG -3'
(R):5'- AGGCACATGTACCTCCTTTCTGG -3'

Posted On

2018-08-29