Mutagenetix > Incidental Mutation

Incidental Mutation 'R4962:P3h3'

381826

Institutional Source

Beutler Lab

Gene Symbol

P3h3

Ensembl Gene

ENSMUSG00000023191

Gene Name

prolyl 3-hydroxylase 3

Synonyms

Leprel2, Grcb

MMRRC Submission

042559-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4962 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

124818052-124834680 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 124818736 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Glycine at position 701 (S701G)

Ref Sequence

ENSEMBL: ENSMUSP00000023958 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000023958] [ENSMUST00000024206] [ENSMUST00000135127]

AlphaFold

Q8CG70

Predicted Effect

probably benign
Transcript: ENSMUST00000023958
AA Change: S701G

PolyPhen 2 Score 0.090 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000023958
Gene: ENSMUSG00000023191
AA Change: S701G

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: ENSMUST00000024206

SMART Domains

Protein: ENSMUSP00000024206
Gene: ENSMUSG00000023439

Domain	Start	End	E-Value	Type
WD40	44	83	4.91e-8	SMART
WD40	86	125	1.61e-3	SMART
WD40	132	170	5.1e-6	SMART
WD40	173	212	3.99e-8	SMART
WD40	215	254	2.67e-9	SMART
WD40	263	298	2e-1	SMART
WD40	301	340	3.87e-6	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000126987

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000129225

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000129251

Predicted Effect

probably benign
Transcript: ENSMUST00000135127

SMART Domains

Protein: ENSMUSP00000116338
Gene: ENSMUSG00000023191

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

noncoding transcript
Transcript: ENSMUST00000135996

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000147296

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000149870

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.7%
20x: 93.6%

Validation Efficiency

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: 92 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4921509C19Rik	A	G	2: 151,314,728 (GRCm39)	F317L	possibly damaging	Het
Abcc4	A	G	14: 118,905,811 (GRCm39)	I85T	probably benign	Het
Acoxl	G	T	2: 127,917,810 (GRCm39)	C498F	probably damaging	Het
Akap13	C	T	7: 75,399,178 (GRCm39)	T2752I	probably damaging	Het
Anks6	C	T	4: 47,030,795 (GRCm39)	G601S	probably damaging	Het
Ap2a2	T	G	7: 141,210,061 (GRCm39)	F836C	probably damaging	Het
Atp2c1	A	G	9: 105,320,149 (GRCm39)	V404A	probably benign	Het
Atp7b	G	T	8: 22,510,901 (GRCm39)	A415E	probably damaging	Het
Babam2	A	T	5: 31,942,927 (GRCm39)	I71L	possibly damaging	Het
Bean1	A	G	8: 104,943,606 (GRCm39)	T54A	probably damaging	Het
Cacna1b	T	A	2: 24,508,330 (GRCm39)	I1816F	probably damaging	Het
Cacna1b	C	T	2: 24,547,378 (GRCm39)	G1202D	probably damaging	Het
Casp8ap2	A	G	4: 32,640,554 (GRCm39)	E536G	probably damaging	Het
Cfap57	A	G	4: 118,470,262 (GRCm39)	V206A	probably benign	Het
Clca3a2	A	T	3: 144,783,640 (GRCm39)	D658E	probably damaging	Het
Cwc22	A	T	2: 77,726,653 (GRCm39)	S809T	probably benign	Het
Cyp2c54	C	T	19: 40,060,585 (GRCm39)	R132Q	possibly damaging	Het
Ddx20	A	T	3: 105,587,921 (GRCm39)	D386E	possibly damaging	Het
Ddx50	T	C	10: 62,478,632 (GRCm39)	T185A	probably damaging	Het
Decr1	G	A	4: 15,930,976 (GRCm39)	R119*	probably null	Het
Dennd4a	T	C	9: 64,813,285 (GRCm39)	S1415P	probably benign	Het
Dnah12	A	T	14: 26,437,855 (GRCm39)	I495L	probably benign	Het
Dnah2	G	A	11: 69,346,799 (GRCm39)	Q2596*	probably null	Het
Dnajb13	A	G	7: 100,156,707 (GRCm39)	L123S	probably benign	Het
Drgx	G	T	14: 32,369,101 (GRCm39)		probably benign	Het
Elavl3	G	A	9: 21,948,107 (GRCm39)	P19L	probably benign	Het
Fer1l6	T	C	15: 58,443,250 (GRCm39)	S518P	probably benign	Het
Fgd3	T	C	13: 49,420,105 (GRCm39)	S591G	probably benign	Het
Galnt18	C	A	7: 111,071,271 (GRCm39)	R566L	probably benign	Het
Galnt6	A	T	15: 100,594,455 (GRCm39)	Y525*	probably null	Het
Gm10036	A	T	18: 15,966,359 (GRCm39)	Y170F	probably benign	Het
Hacd2	A	G	16: 34,842,921 (GRCm39)	D24G	unknown	Het
Idh3a	T	C	9: 54,503,325 (GRCm39)	M128T	possibly damaging	Het
Ido1	C	T	8: 25,074,565 (GRCm39)	M359I	probably benign	Het
Ikbkb	T	C	8: 23,171,693 (GRCm39)	T185A	probably damaging	Het
Insl6	C	T	19: 29,299,019 (GRCm39)	G131D	probably damaging	Het
Irgm1	A	C	11: 48,757,159 (GRCm39)	S217R	possibly damaging	Het
Itga11	T	A	9: 62,668,850 (GRCm39)	Y702*	probably null	Het
Itgb4	C	T	11: 115,874,983 (GRCm39)	R447W	probably benign	Het
Kansl2	T	C	15: 98,429,724 (GRCm39)	M103V	probably benign	Het
Kcnq2	T	C	2: 180,753,836 (GRCm39)	N258S	possibly damaging	Het
Kdm5d	A	T	Y: 940,624 (GRCm39)	D1045V	probably damaging	Het
Lats2	A	G	14: 57,937,049 (GRCm39)	L480P	probably damaging	Het
Lin28b	T	A	10: 45,296,736 (GRCm39)	K87N	possibly damaging	Het
Lpgat1	T	A	1: 191,451,682 (GRCm39)	W103R	probably damaging	Het
Lpl	G	T	8: 69,347,345 (GRCm39)	G166C	probably damaging	Het
Ly75	A	T	2: 60,182,469 (GRCm39)	Y569N	probably damaging	Het
Mcm8	A	T	2: 132,680,689 (GRCm39)	E564D	probably damaging	Het
Me2	G	T	18: 73,918,847 (GRCm39)	N411K	probably damaging	Het
Mn1	A	G	5: 111,602,652 (GRCm39)	T1297A	possibly damaging	Het
Mphosph8	T	A	14: 56,916,046 (GRCm39)	F447L	probably benign	Het
Nacad	T	A	11: 6,549,169 (GRCm39)	D1294V	probably damaging	Het
Neu3	A	T	7: 99,472,615 (GRCm39)	F41I	probably damaging	Het
Nlrp6	G	T	7: 140,503,497 (GRCm39)	L534F	probably damaging	Het
Nrap	A	G	19: 56,366,575 (GRCm39)	M338T	probably damaging	Het
Nuak1	T	C	10: 84,210,979 (GRCm39)	K370E	probably damaging	Het
Or10ab4	T	A	7: 107,654,647 (GRCm39)	C153S	probably benign	Het
Or4d10	T	A	19: 12,051,639 (GRCm39)	D119V	probably damaging	Het
Or5w8	A	G	2: 87,687,632 (GRCm39)	T38A	probably benign	Het
Or6c212	C	T	10: 129,558,592 (GRCm39)	V274M	probably damaging	Het
Pdss2	T	C	10: 43,174,908 (GRCm39)	M138T	possibly damaging	Het
Piezo1	C	T	8: 123,213,220 (GRCm39)	E1848K	probably benign	Het
Prmt3	T	G	7: 49,476,557 (GRCm39)	S389A	probably benign	Het
Prune2	T	A	19: 17,099,637 (GRCm39)	F1714I	probably benign	Het
Ptgis	A	G	2: 167,067,194 (GRCm39)		probably null	Het
Ptpn20	T	C	14: 33,336,416 (GRCm39)	V85A	probably benign	Het
Rabepk	A	T	2: 34,670,669 (GRCm39)	Y264N	probably damaging	Het
Ralgapa2	A	T	2: 146,276,754 (GRCm39)	C495*	probably null	Het
Satb2	A	G	1: 56,930,327 (GRCm39)	I232T	probably benign	Het
Selenbp2	A	T	3: 94,610,856 (GRCm39)	L307F	probably damaging	Het
Sgpl1	T	G	10: 60,949,863 (GRCm39)	Y112S	probably damaging	Het
Slitrk5	T	C	14: 111,918,679 (GRCm39)	S768P	probably benign	Het
Smc3	T	A	19: 53,619,948 (GRCm39)	Y615N	probably damaging	Het
Spag17	A	G	3: 99,934,939 (GRCm39)	N715S	probably benign	Het
Spats2	A	G	15: 99,110,157 (GRCm39)	E518G	probably benign	Het
Spats2l	A	G	1: 57,924,983 (GRCm39)	H127R	possibly damaging	Het
Tenm3	T	A	8: 48,731,996 (GRCm39)	K1287*	probably null	Het
Thoc1	T	A	18: 9,962,387 (GRCm39)	S91T	probably benign	Het
Thoc6	C	T	17: 23,888,911 (GRCm39)	G166S	probably damaging	Het
Tmem107	C	A	11: 68,962,087 (GRCm39)	T42N	possibly damaging	Het
Tmprss11c	A	G	5: 86,385,569 (GRCm39)	I288T	probably damaging	Het
Tnrc18	A	G	5: 142,725,248 (GRCm39)	F1827S	unknown	Het
Trmt112	C	A	19: 6,887,566 (GRCm39)	T5N	probably damaging	Het
Trp53bp1	A	T	2: 121,101,027 (GRCm39)	M57K	probably benign	Het
Ttbk2	C	A	2: 120,575,631 (GRCm39)	Q1115H	probably damaging	Het
Ttn	C	A	2: 76,559,989 (GRCm39)	E27725*	probably null	Het
Ttn	A	G	2: 76,774,453 (GRCm39)	M2151T	probably damaging	Het
Usp9y	A	T	Y: 1,384,336 (GRCm39)	D727E	probably damaging	Het
Vps13c	A	G	9: 67,781,173 (GRCm39)	T221A	probably damaging	Het
Zbtb20	A	G	16: 43,439,055 (GRCm39)	D725G	probably damaging	Het
Zfp341	A	T	2: 154,468,734 (GRCm39)	I126F	possibly damaging	Het
Zfyve16	C	T	13: 92,650,402 (GRCm39)	A861T	probably damaging	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
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
R7385:P3h3	UTSW	6	124,832,233 (GRCm39)	missense	probably damaging	1.00
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'- AGACTTGGCATGCTACTATGTTCC -3'
(R):5'- TTGGGTGACTGAGATAGCCC -3'

Sequencing Primer
(F):5'- GGCATGCTACTATGTTCCTGATATC -3'
(R):5'- AGATAGCCCAGGGGTGGTC -3'

Posted On

2016-04-27