Mutagenetix > Incidental Mutations

Incidental Mutation 'R1617:Prr12'

174358

Institutional Source

Beutler Lab

Gene Symbol

Prr12

Ensembl Gene

ENSMUSG00000046574

Gene Name

proline rich 12

Synonyms

MMRRC Submission

039654-MU

Accession Numbers

Is this an essential gene?

Possibly essential (E-score: 0.551) question?

Stock #

R1617 (G1)

Quality Score

115

Status

Validated

Chromosome

Chromosomal Location

45027563-45052881 bp(-) (GRCm38)

Type of Mutation

unclassified

DNA Base Change (assembly)

G to A at 45049594 bp

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000147709 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000007981] [ENSMUST00000057293] [ENSMUST00000209920] [ENSMUST00000210101] [ENSMUST00000210493] [ENSMUST00000210500] [ENSMUST00000210690] [ENSMUST00000211014] [ENSMUST00000211337]

Predicted Effect

probably benign
Transcript: ENSMUST00000007981

SMART Domains

Protein: ENSMUSP00000007981
Gene: ENSMUSG00000007837

Domain	Start	End	E-Value	Type
signal peptide	1	17	N/A	INTRINSIC
GLA	30	97	4.2e-27	SMART
transmembrane domain	112	134	N/A	INTRINSIC
low complexity region	156	173	N/A	INTRINSIC

Predicted Effect

unknown
Transcript: ENSMUST00000057293
AA Change: P299L

SMART Domains

Protein: ENSMUSP00000054702
Gene: ENSMUSG00000046574
AA Change: P299L

Domain	Start	End	E-Value	Type
low complexity region	135	150	N/A	INTRINSIC
low complexity region	208	222	N/A	INTRINSIC
low complexity region	225	242	N/A	INTRINSIC
low complexity region	249	261	N/A	INTRINSIC
low complexity region	330	376	N/A	INTRINSIC
low complexity region	388	413	N/A	INTRINSIC
low complexity region	418	444	N/A	INTRINSIC
low complexity region	450	464	N/A	INTRINSIC
low complexity region	469	487	N/A	INTRINSIC
low complexity region	535	559	N/A	INTRINSIC
low complexity region	598	616	N/A	INTRINSIC
low complexity region	665	682	N/A	INTRINSIC
low complexity region	760	775	N/A	INTRINSIC
low complexity region	785	814	N/A	INTRINSIC
low complexity region	830	841	N/A	INTRINSIC
low complexity region	858	871	N/A	INTRINSIC
low complexity region	883	896	N/A	INTRINSIC
low complexity region	949	960	N/A	INTRINSIC
low complexity region	964	986	N/A	INTRINSIC
low complexity region	1033	1044	N/A	INTRINSIC
low complexity region	1059	1070	N/A	INTRINSIC
AT_hook	1161	1173	5.74e1	SMART
AT_hook	1193	1205	8.09e0	SMART
low complexity region	1252	1264	N/A	INTRINSIC
low complexity region	1308	1328	N/A	INTRINSIC
low complexity region	1417	1535	N/A	INTRINSIC
low complexity region	1684	1748	N/A	INTRINSIC
Pfam:DUF4211	1817	1950	6.5e-21	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000209417

Predicted Effect

probably benign
Transcript: ENSMUST00000209920

Predicted Effect

probably benign
Transcript: ENSMUST00000210101

Predicted Effect

probably benign
Transcript: ENSMUST00000210493

Predicted Effect

probably benign
Transcript: ENSMUST00000210500

Predicted Effect

probably benign
Transcript: ENSMUST00000210690

Predicted Effect

probably benign
Transcript: ENSMUST00000211014

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000211084

Predicted Effect

probably benign
Transcript: ENSMUST00000211337

Meta Mutation Damage Score

0.0835

Coding Region Coverage

1x: 99.1%
3x: 98.2%
10x: 95.8%
20x: 91.0%

Validation Efficiency

98% (83/85)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a proline-rich protein that contains two A-T hook DNA binding domains. A chromosomal translocation and gene fusion between this gene and zinc finger, MIZ-type containing 1 (Gene ID: 57178) may underlie intellectual disability and neuropsychiatric problems in a human patient. Enriched expression of this gene in embryonic mouse brain suggests that this gene may play a role in nervous system development. [provided by RefSeq, Jul 2016]

Allele List at MGI

Other mutations in this stock

Total: 73 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4833420G17Rik	T	A	13: 119,466,937	I91K	probably damaging	Het
Adamts16	T	A	13: 70,798,035	M254L	probably benign	Het
Adgre5	T	C	8: 83,730,177	I192V	possibly damaging	Het
Akr1c21	G	A	13: 4,576,352		probably null	Het
Amz2	A	G	11: 109,434,024	T245A	probably benign	Het
Aqp7	A	C	4: 41,036,109	M43R	probably null	Het
Arid3c	G	A	4: 41,725,103	P315S	probably damaging	Het
Birc2	A	T	9: 7,826,951	Y345N	possibly damaging	Het
Blnk	T	C	19: 40,962,363	T115A	probably benign	Het
Col5a1	T	C	2: 27,952,381	S423P	unknown	Het
Corin	A	T	5: 72,503,952	F66Y	possibly damaging	Het
Cpd	A	T	11: 76,846,669	W100R	probably damaging	Het
Cpsf1	A	T	15: 76,602,370	Y296*	probably null	Het
Cyp2d34	T	C	15: 82,620,845	T5A	probably benign	Het
Dhrs7c	G	T	11: 67,815,077	V219L	possibly damaging	Het
Dnah3	T	C	7: 120,089,946	M82V	probably benign	Het
Dnah9	A	G	11: 65,895,921	S3629P	probably damaging	Het
Fam160a2	A	G	7: 105,385,062	L454P	probably damaging	Het
Fbrs	T	C	7: 127,487,711	L33P	probably damaging	Het
Galnt11	T	A	5: 25,258,893	S388T	probably damaging	Het
Glmp	A	G	3: 88,328,119		probably benign	Het
Gm13178	T	G	4: 144,715,391	T97P	probably damaging	Het
Gm13212	A	T	4: 145,624,307		probably benign	Het
Gm9268	A	G	7: 43,024,079	E187G	probably benign	Het
Gm9894	A	G	13: 67,772,726		noncoding transcript	Het
Grik3	A	G	4: 125,691,192	M618V	probably benign	Het
Hmcn1	T	C	1: 150,745,027	D1144G	probably damaging	Het
Hnrnpa2b1	T	C	6: 51,466,398	K161R	possibly damaging	Het
Kmt2c	T	C	5: 25,375,927	I523V	probably benign	Het
Lmln	C	T	16: 33,117,130	P622S	probably damaging	Het
Lmtk2	A	G	5: 144,173,862	T467A	probably damaging	Het
Map1s	T	A	8: 70,913,451	N333K	probably damaging	Het
Mgat4d	C	A	8: 83,365,711	A242D	probably damaging	Het
Muc5b	T	A	7: 141,863,524	Y3402*	probably null	Het
Myo3b	G	T	2: 70,281,218	A922S	probably benign	Het
Nphs1	T	C	7: 30,482,531	V1183A	probably benign	Het
Nup160	T	A	2: 90,679,499	C31S	probably benign	Het
Olfr1061	A	T	2: 86,413,691	Y120*	probably null	Het
Olfr48	T	C	2: 89,844,254	T240A	probably benign	Het
Pcdhb5	T	G	18: 37,321,402	Y278*	probably null	Het
Pkhd1	T	A	1: 20,198,050	E3368V	possibly damaging	Het
Pla2g6	A	G	15: 79,289,141	M676T	probably benign	Het
Plcb1	A	T	2: 135,337,441	N590Y	probably damaging	Het
Psat1	A	G	19: 15,924,302		probably null	Het
Ptpn9	T	G	9: 57,027,408	I152S	possibly damaging	Het
Ric8b	T	A	10: 84,947,611	F111Y	probably damaging	Het
Slc44a3	G	A	3: 121,461,265	A568V	probably benign	Het
Smarcd3	T	G	5: 24,595,194	R213S	probably damaging	Het
Snx13	T	C	12: 35,086,896	Y119H	probably damaging	Het
Socs2	C	A	10: 95,413,081	E57*	probably null	Het
Spred1	C	T	2: 117,175,347	P197S	probably benign	Het
Srek1	G	T	13: 103,743,604	P482Q	unknown	Het
Tapbp	A	G	17: 33,920,431	T134A	probably benign	Het
Tarbp1	T	C	8: 126,444,268	I998V	possibly damaging	Het
Tbcel	G	T	9: 42,461,293		probably benign	Het
Tec	A	G	5: 72,782,105	F189S	probably damaging	Het
Tmprss11g	A	T	5: 86,499,563	Y39N	probably damaging	Het
Tmtc1	A	G	6: 148,355,404		probably benign	Het
Trpa1	A	G	1: 14,873,675	I1070T	probably damaging	Het
Trpm2	T	A	10: 77,935,875		probably null	Het
Ttc21b	G	T	2: 66,226,035	T669K	probably benign	Het
Ttll4	G	A	1: 74,679,401	R137H	probably benign	Het
Ubqln3	G	T	7: 104,142,860	L8I	possibly damaging	Het
Ung	C	A	5: 114,131,354	N42K	probably benign	Het
Upp1	T	C	11: 9,134,865	S195P	probably damaging	Het
Urb1	T	C	16: 90,760,452	E1762G	possibly damaging	Het
Utp11	T	C	4: 124,686,111	K35E	probably damaging	Het
Vav3	A	T	3: 109,510,978	K305I	probably damaging	Het
Vmn1r197	A	G	13: 22,328,328	I140V	possibly damaging	Het
Zfc3h1	A	G	10: 115,390,922	T295A	probably benign	Het
Zfp46	T	C	4: 136,290,512	L219P	probably damaging	Het
Zfp493	G	A	13: 67,783,880	V33M	probably damaging	Het
Zfp92	T	C	X: 73,419,860		probably benign	Het

Other mutations in Prr12

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01144:Prr12	APN	7	45047458	missense	unknown
IGL01603:Prr12	APN	7	45043485	missense	probably damaging	0.96
IGL01941:Prr12	APN	7	45048659	unclassified	probably benign
IGL02043:Prr12	APN	7	45050005	unclassified	probably benign
IGL02170:Prr12	APN	7	45046188	missense	unknown
IGL02494:Prr12	APN	7	45028846	missense	unknown
IGL02947:Prr12	APN	7	45048556	missense	unknown
R0128:Prr12	UTSW	7	45050039	unclassified	probably benign
R0255:Prr12	UTSW	7	45049991	unclassified	probably benign
R0556:Prr12	UTSW	7	45030669	missense	unknown
R1168:Prr12	UTSW	7	45029047	missense	unknown
R1266:Prr12	UTSW	7	45050253	unclassified	probably benign
R1374:Prr12	UTSW	7	45046218	missense	unknown
R1531:Prr12	UTSW	7	45028530	missense	unknown
R1537:Prr12	UTSW	7	45028942	missense	unknown
R1572:Prr12	UTSW	7	45028800	missense	unknown
R1647:Prr12	UTSW	7	45034192	missense	probably benign	0.20
R1694:Prr12	UTSW	7	45028579	missense	unknown
R1732:Prr12	UTSW	7	45048356	missense	unknown
R1819:Prr12	UTSW	7	45048697	unclassified	probably benign
R2114:Prr12	UTSW	7	45046082	missense	unknown
R2210:Prr12	UTSW	7	45049351	unclassified	probably benign
R2846:Prr12	UTSW	7	45046012	missense	unknown
R2902:Prr12	UTSW	7	45047612	missense	unknown
R2985:Prr12	UTSW	7	45046012	missense	unknown
R4094:Prr12	UTSW	7	45047947	missense	unknown
R4498:Prr12	UTSW	7	45045914	missense	unknown
R4523:Prr12	UTSW	7	45048523	missense	unknown
R4763:Prr12	UTSW	7	45047695	missense	unknown
R4775:Prr12	UTSW	7	45051325	unclassified	probably benign
R4995:Prr12	UTSW	7	45051229	unclassified	probably benign
R5007:Prr12	UTSW	7	45049801	unclassified	probably benign
R5045:Prr12	UTSW	7	45049894	unclassified	probably benign
R5184:Prr12	UTSW	7	45046377	missense	unknown
R5897:Prr12	UTSW	7	45043384	missense	probably damaging	1.00
R6847:Prr12	UTSW	7	45045740	missense	unknown
R6912:Prr12	UTSW	7	45048845	unclassified	probably benign
R7147:Prr12	UTSW	7	45033850	missense	unknown
R8120:Prr12	UTSW	7	45034742	missense	probably damaging	1.00
R8292:Prr12	UTSW	7	45034688	missense	probably damaging	1.00
R8822:Prr12	UTSW	7	45050339	missense	unknown
R9039:Prr12	UTSW	7	45034722	missense	probably damaging	1.00
X0066:Prr12	UTSW	7	45047003	missense	unknown
Z1176:Prr12	UTSW	7	45052856	missense	unknown
Z1177:Prr12	UTSW	7	45050286	missense	unknown

Predicted Primers

PCR Primer
(F):5'- TGCTCAAGTCCTGTGCTTGACC -3'
(R):5'- CGACTCAGTTCAATCTGCTGGCTTC -3'

Sequencing Primer
(F):5'- TTTCCCAGCGGCATAAGC -3'
(R):5'- AATCTGCTGGCTTCCTCTTCTG -3'

Posted On

2014-04-24