Mutagenetix > Incidental Mutation

Incidental Mutation 'R7385:P3h3'

573022

Institutional Source

Beutler Lab

Gene Symbol

P3h3

Ensembl Gene

ENSMUSG00000023191

Gene Name

prolyl 3-hydroxylase 3

Synonyms

Leprel2, Grcb

MMRRC Submission

045467-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7385 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

124818052-124834680 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 124832233 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Asparagine at position 218 (Y218N)

Ref Sequence

ENSEMBL: ENSMUSP00000023958 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000023958] [ENSMUST00000046893] [ENSMUST00000135127] [ENSMUST00000204667]

AlphaFold

Q8CG70

Predicted Effect

probably damaging
Transcript: ENSMUST00000023958
AA Change: Y218N

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000023958
Gene: ENSMUSG00000023191
AA Change: Y218N

Domain	Start	End	E-Value	Type
signal peptide	1	19	N/A	INTRINSIC
low complexity region	58	76	N/A	INTRINSIC
low complexity region	127	142	N/A	INTRINSIC
low complexity region	222	242	N/A	INTRINSIC
low complexity region	256	277	N/A	INTRINSIC
P4Hc	460	670	8.51e-49	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000046893

SMART Domains

Protein: ENSMUSP00000038536
Gene: ENSMUSG00000038390

Domain	Start	End	E-Value	Type
Pfam:7tm_1	30	337	1.1e-19	PFAM
low complexity region	348	362	N/A	INTRINSIC
low complexity region	462	477	N/A	INTRINSIC
low complexity region	482	504	N/A	INTRINSIC
low complexity region	513	540	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000135127
AA Change: Y218N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000116338
Gene: ENSMUSG00000023191
AA Change: Y218N

Domain	Start	End	E-Value	Type
signal peptide	1	19	N/A	INTRINSIC
low complexity region	58	76	N/A	INTRINSIC
low complexity region	127	142	N/A	INTRINSIC
low complexity region	222	242	N/A	INTRINSIC
low complexity region	256	277	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000204667

SMART Domains

Protein: ENSMUSP00000145267
Gene: ENSMUSG00000038390

Domain	Start	End	E-Value	Type
Pfam:7tm_1	30	337	1.1e-19	PFAM
low complexity region	348	362	N/A	INTRINSIC
low complexity region	462	477	N/A	INTRINSIC
low complexity region	482	504	N/A	INTRINSIC
low complexity region	513	540	N/A	INTRINSIC

Meta Mutation Damage Score

0.5499

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.0%

Validation Efficiency

100% (75/75)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene belongs to the leprecan family of proteoglycans, which function as collagen prolyl hydroxylases that are required for proper collagen biosynthesis, folding and assembly. This protein, like other family members, is thought to reside in the endoplasmic reticulum. Epigenetic inactivation of this gene is associated with breast and other cancers, suggesting that it may function as a tumor suppressor. [provided by RefSeq, Aug 2013]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit collagen fiber fragility in the skin. [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
Ahctf1	T	C	1: 179,580,946 (GRCm39)	E1752G	possibly damaging	Het
Aqp3	T	C	4: 41,095,178 (GRCm39)	T68A	probably damaging	Het
Arhgap40	A	G	2: 158,385,147 (GRCm39)	K463R	probably damaging	Het
Asb10	A	T	5: 24,738,736 (GRCm39)	C440*	probably null	Het
Bach1	A	G	16: 87,526,385 (GRCm39)	T616A	probably damaging	Het
Braf	T	A	6: 39,642,042 (GRCm39)		probably null	Het
Cacna1s	A	T	1: 136,020,371 (GRCm39)	N803Y	probably damaging	Het
Cald1	A	G	6: 34,663,000 (GRCm39)	E21G	probably damaging	Het
Caskin1	G	T	17: 24,722,898 (GRCm39)	G589C	probably damaging	Het
Cdc37l1	T	C	19: 28,968,071 (GRCm39)		probably null	Het
Cntnap5b	G	A	1: 100,306,815 (GRCm39)	G844D	probably damaging	Het
Col5a1	T	C	2: 27,914,762 (GRCm39)	L1615P	unknown	Het
Cpt1a	C	A	19: 3,430,155 (GRCm39)	P672T	probably damaging	Het
Defb22	A	G	2: 152,328,117 (GRCm39)	Y23H	probably damaging	Het
Depdc1b	G	C	13: 108,500,166 (GRCm39)	K226N	probably damaging	Het
Derl2	A	G	11: 70,909,764 (GRCm39)		probably benign	Het
Dnaja2	T	C	8: 86,265,982 (GRCm39)	T368A	probably benign	Het
Dsg3	C	A	18: 20,673,254 (GRCm39)	T975K	possibly damaging	Het
Eif4enif1	T	A	11: 3,170,269 (GRCm39)	D107E	probably damaging	Het
Fut11	A	G	14: 20,746,325 (GRCm39)	D389G	probably damaging	Het
Gopc	C	T	10: 52,225,328 (GRCm39)	G299E	probably damaging	Het
Gprin1	T	C	13: 54,886,423 (GRCm39)	D617G	probably benign	Het
Grin2d	A	G	7: 45,506,960 (GRCm39)	V505A	probably damaging	Het
Heatr6	T	C	11: 83,650,161 (GRCm39)	Y206H	probably damaging	Het
Hhex	C	A	19: 37,425,713 (GRCm39)	N147K	probably damaging	Het
Igkv4-80	G	A	6: 68,993,699 (GRCm39)	S64F	probably damaging	Het
Jakmip3	A	G	7: 138,625,068 (GRCm39)	K360R	possibly damaging	Het
Kat5	AG	A	19: 5,658,297 (GRCm39)		probably null	Het
Kat5	T	A	19: 5,658,302 (GRCm39)	N191I	probably benign	Het
Kifc5b	A	G	17: 27,144,597 (GRCm39)	D572G	probably damaging	Het
Lrp5	C	A	19: 3,662,197 (GRCm39)		probably null	Het
Lrtm1	A	G	14: 28,749,673 (GRCm39)	M345V	probably benign	Het
Mbd5	T	C	2: 49,162,461 (GRCm39)	V981A	probably benign	Het
Mier3	G	A	13: 111,841,783 (GRCm39)	G115S	possibly damaging	Het
Mrgprd	A	G	7: 144,875,261 (GRCm39)	N44S	probably damaging	Het
Mrps10	C	A	17: 47,689,146 (GRCm39)	P181Q	probably damaging	Het
Myot	T	A	18: 44,470,075 (GRCm39)	C17*	probably null	Het
Myt1	A	G	2: 181,409,498 (GRCm39)		probably null	Het
Ncoa6	C	A	2: 155,249,721 (GRCm39)	L1194F	probably damaging	Het
Or4d11	T	C	19: 12,013,363 (GRCm39)	T248A	probably benign	Het
Or4d6	T	C	19: 12,086,061 (GRCm39)	N57S	probably damaging	Het
Or4e5	T	C	14: 52,727,638 (GRCm39)	Y261C	probably damaging	Het
Or7a39	C	A	10: 78,715,288 (GRCm39)	T94K	probably damaging	Het
Or7e165	T	A	9: 19,694,507 (GRCm39)	I26N	possibly damaging	Het
Osbpl6	G	A	2: 76,379,794 (GRCm39)	G128E	probably damaging	Het
Paxip1	A	G	5: 27,986,418 (GRCm39)		probably null	Het
Pdia5	T	C	16: 35,250,284 (GRCm39)	Y225C	probably damaging	Het
Pik3c2g	T	G	6: 139,801,079 (GRCm39)	M526R		Het
Prox1	A	G	1: 189,894,323 (GRCm39)	F41L	probably benign	Het
Psd3	A	T	8: 68,453,408 (GRCm39)	F284I	probably damaging	Het
Rev3l	T	A	10: 39,699,678 (GRCm39)	C1392S	probably benign	Het
Rfxank	A	T	8: 70,587,285 (GRCm39)	V212E	probably damaging	Het
Ros1	T	C	10: 52,031,222 (GRCm39)	D482G	probably benign	Het
Sat2	A	T	11: 69,513,763 (GRCm39)	I94F	probably damaging	Het
Scarf2	T	C	16: 17,621,702 (GRCm39)	L384P	probably damaging	Het
Sec14l2	C	A	11: 4,066,750 (GRCm39)	E21*	probably null	Het
Slitrk5	T	A	14: 111,918,131 (GRCm39)	V585E	probably benign	Het
Spata31h1	T	A	10: 82,123,571 (GRCm39)	E3146D	probably benign	Het
Spata31h1	T	C	10: 82,123,729 (GRCm39)	S3094G	probably benign	Het
Tas2r130	T	A	6: 131,607,226 (GRCm39)	M190L	probably benign	Het
Ticrr	G	A	7: 79,341,597 (GRCm39)	S1061N	possibly damaging	Het
Tlr9	C	A	9: 106,102,463 (GRCm39)	H585N	probably damaging	Het
Tmem219	A	T	7: 126,495,947 (GRCm39)	I142N	probably damaging	Het
Tnni2	A	G	7: 141,996,915 (GRCm39)	N8S	probably benign	Het
Tnpo2	G	A	8: 85,776,748 (GRCm39)	R485H	probably damaging	Het
Ttc8	A	G	12: 98,908,547 (GRCm39)	E72G	possibly damaging	Het
Upf1	A	G	8: 70,793,268 (GRCm39)	Y297H	probably damaging	Het
Vmn1r4	A	G	6: 56,933,721 (GRCm39)	K75R	probably damaging	Het
Vmn2r78	G	A	7: 86,571,633 (GRCm39)	G481D	probably benign	Het
Vmn2r96	A	G	17: 18,803,302 (GRCm39)	Y404C	probably damaging	Het
Vps50	T	A	6: 3,602,708 (GRCm39)	S942T	probably benign	Het
Xkr7	C	A	2: 152,895,983 (GRCm39)	S279*	probably null	Het
Zan	G	A	5: 137,432,416 (GRCm39)	Q2294*	probably null	Het
Zan	T	C	5: 137,448,753 (GRCm39)	Y1700C	unknown	Het

Other mutations in P3h3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00985:P3h3	APN	6	124,822,552 (GRCm39)	missense	probably benign	0.26
IGL02158:P3h3	APN	6	124,830,055 (GRCm39)	missense	probably damaging	1.00
IGL02654:P3h3	APN	6	124,822,228 (GRCm39)	missense	possibly damaging	0.95
P0040:P3h3	UTSW	6	124,830,099 (GRCm39)	missense	probably damaging	0.99
R0024:P3h3	UTSW	6	124,834,421 (GRCm39)	missense	probably benign
R0196:P3h3	UTSW	6	124,822,235 (GRCm39)	missense	probably damaging	1.00
R0328:P3h3	UTSW	6	124,831,269 (GRCm39)	unclassified	probably benign
R0589:P3h3	UTSW	6	124,818,644 (GRCm39)	missense	probably damaging	1.00
R0605:P3h3	UTSW	6	124,832,998 (GRCm39)	missense	probably damaging	1.00
R0793:P3h3	UTSW	6	124,831,896 (GRCm39)	missense	probably benign	0.00
R0794:P3h3	UTSW	6	124,831,896 (GRCm39)	missense	probably benign	0.00
R0795:P3h3	UTSW	6	124,831,896 (GRCm39)	missense	probably benign	0.00
R0796:P3h3	UTSW	6	124,831,896 (GRCm39)	missense	probably benign	0.00
R0853:P3h3	UTSW	6	124,831,896 (GRCm39)	missense	probably benign	0.00
R0854:P3h3	UTSW	6	124,831,896 (GRCm39)	missense	probably benign	0.00
R0856:P3h3	UTSW	6	124,831,896 (GRCm39)	missense	probably benign	0.00
R0893:P3h3	UTSW	6	124,822,476 (GRCm39)	missense	probably damaging	1.00
R1819:P3h3	UTSW	6	124,831,895 (GRCm39)	missense	probably benign	0.05
R2100:P3h3	UTSW	6	124,822,005 (GRCm39)	missense	probably damaging	1.00
R4332:P3h3	UTSW	6	124,819,099 (GRCm39)	missense	probably damaging	1.00
R4461:P3h3	UTSW	6	124,822,531 (GRCm39)	missense	probably benign	0.08
R4533:P3h3	UTSW	6	124,831,371 (GRCm39)	missense	possibly damaging	0.62
R4829:P3h3	UTSW	6	124,818,601 (GRCm39)	utr 3 prime	probably benign
R4840:P3h3	UTSW	6	124,827,600 (GRCm39)	missense	possibly damaging	0.82
R4962:P3h3	UTSW	6	124,818,736 (GRCm39)	missense	probably benign	0.09
R5014:P3h3	UTSW	6	124,832,199 (GRCm39)	missense	probably damaging	1.00
R5591:P3h3	UTSW	6	124,831,658 (GRCm39)	unclassified	probably benign
R5691:P3h3	UTSW	6	124,832,116 (GRCm39)	missense	probably damaging	1.00
R5777:P3h3	UTSW	6	124,832,921 (GRCm39)	missense	probably benign	0.24
R5846:P3h3	UTSW	6	124,834,157 (GRCm39)	critical splice donor site	probably null
R6212:P3h3	UTSW	6	124,822,606 (GRCm39)	missense	probably benign	0.19
R6254:P3h3	UTSW	6	124,822,564 (GRCm39)	missense	probably damaging	1.00
R6320:P3h3	UTSW	6	124,831,835 (GRCm39)	missense	probably benign	0.02
R6860:P3h3	UTSW	6	124,834,331 (GRCm39)	missense	probably benign	0.01
R7472:P3h3	UTSW	6	124,827,594 (GRCm39)	missense	possibly damaging	0.92
R7617:P3h3	UTSW	6	124,832,969 (GRCm39)	missense	probably damaging	1.00
R7763:P3h3	UTSW	6	124,831,395 (GRCm39)	missense	probably benign	0.00
R7831:P3h3	UTSW	6	124,832,118 (GRCm39)	missense	possibly damaging	0.86
R8317:P3h3	UTSW	6	124,832,116 (GRCm39)	missense	probably damaging	1.00
R8436:P3h3	UTSW	6	124,828,041 (GRCm39)	critical splice donor site	probably null
R8749:P3h3	UTSW	6	124,822,940 (GRCm39)	missense	probably damaging	0.99
R8944:P3h3	UTSW	6	124,832,196 (GRCm39)	missense	possibly damaging	0.86
R8988:P3h3	UTSW	6	124,834,564 (GRCm39)	missense	possibly damaging	0.74
R9508:P3h3	UTSW	6	124,830,012 (GRCm39)	critical splice donor site	probably null
X0021:P3h3	UTSW	6	124,832,992 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GCAATGGCTTCATACAGGCC -3'
(R):5'- TTCTGATTCTGAGGCCACAC -3'

Sequencing Primer
(F):5'- CCTCCCTGGCTCCCTTC -3'
(R):5'- TCACTATGCAGACCAGGTTG -3'

Posted On

2019-09-13