Mutagenetix > Incidental Mutations

Incidental Mutation 'R0128:Prr12'

21509

Institutional Source

Beutler Lab

Gene Symbol

Prr12

Ensembl Gene

ENSMUSG00000046574

Gene Name

proline rich 12

Synonyms

MMRRC Submission

038413-MU

Accession Numbers

Is this an essential gene?

Possibly non essential (E-score: 0.336) question?

Stock #

R0128 (G1)

Quality Score

165

Status

Validated (trace)

Chromosome

Chromosomal Location

45027563-45052881 bp(-) (GRCm38)

Type of Mutation

unclassified

DNA Base Change (assembly)

A to G at 45050039 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: Y151H

SMART Domains

Protein: ENSMUSP00000054702
Gene: ENSMUSG00000046574
AA Change: Y151H

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

0.0836

Coding Region Coverage

1x: 99.0%
3x: 97.6%
10x: 93.0%
20x: 79.3%

Validation Efficiency

99% (84/85)

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: 79 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A2ml1	A	G	6: 128,575,639		probably benign	Het
Abcd4	T	G	12: 84,612,352	Q210P	possibly damaging	Het
Ablim2	G	A	5: 35,809,176		probably benign	Het
Actl6b	A	G	5: 137,555,065	N113S	probably benign	Het
Actn3	A	T	19: 4,871,615	V179E	probably damaging	Het
Aff4	C	A	11: 53,415,466	T1145N	probably damaging	Het
Ankrd42	G	A	7: 92,591,859	Q431*	probably null	Het
Anxa9	A	G	3: 95,302,422	S129P	probably benign	Het
Arfgef2	T	G	2: 166,835,719	I88S	probably damaging	Het
Asap3	C	A	4: 136,234,604	N285K	probably damaging	Het
Atp6v0a2	A	G	5: 124,713,184	N477S	probably damaging	Het
Atp7b	C	T	8: 22,028,172	E205K	possibly damaging	Het
Atp8b5	T	A	4: 43,369,715		probably null	Het
C87436	G	A	6: 86,469,827	G533D	probably damaging	Het
Ccdc138	T	A	10: 58,528,360	I314N	probably damaging	Het
Ccs	A	G	19: 4,825,626	F237S	probably damaging	Het
Ccz1	T	G	5: 144,009,294		probably benign	Het
Cdcp2	C	T	4: 107,106,707		probably benign	Het
Chd1	A	G	17: 17,393,567	N531S	probably damaging	Het
Clptm1	A	T	7: 19,635,007	F476I	probably damaging	Het
Colec12	C	T	18: 9,858,921	P568L	unknown	Het
Cped1	T	A	6: 22,121,039	Y373N	probably benign	Het
Cr2	A	T	1: 195,166,231	V328D	probably damaging	Het
D630045J12Rik	A	T	6: 38,149,771		probably benign	Het
Dcdc2a	A	T	13: 25,187,672		probably benign	Het
Dlg1	G	T	16: 31,858,065		probably null	Het
Epb41l5	A	C	1: 119,549,902	V705G	possibly damaging	Het
Ergic3	C	A	2: 156,011,140	R43S	possibly damaging	Het
Flnb	T	C	14: 7,901,951	V938A	probably damaging	Het
Frmd4a	T	C	2: 4,604,092	Y928H	probably damaging	Het
Fyn	C	T	10: 39,511,982	T78M	probably benign	Het
Gdap2	A	G	3: 100,201,995	T443A	probably damaging	Het
Ghrl	A	T	6: 113,717,168		probably benign	Het
Gm1141	T	C	X: 71,939,555	C378R	possibly damaging	Het
Gm12166	A	G	11: 46,052,293	M1T	probably null	Het
Gm4787	T	A	12: 81,377,747	K546*	probably null	Het
Gm498	G	T	7: 143,891,755	G178C	probably damaging	Het
Gm6576	C	G	15: 27,026,000		noncoding transcript	Het
Got1	C	T	19: 43,524,377	D27N	probably benign	Het
Gucy2c	C	T	6: 136,704,249	V946I	probably damaging	Het
Hectd4	T	C	5: 121,349,243	Y3434H	possibly damaging	Het
Hp1bp3	C	T	4: 138,237,209	S348F	probably damaging	Het
Itpr1	A	G	6: 108,471,209		probably benign	Het
Kctd1	G	A	18: 14,974,180	P743S	probably benign	Het
Klhl23	T	C	2: 69,833,966	V553A	probably damaging	Het
Krt24	T	C	11: 99,280,267	D495G	probably damaging	Het
L3hypdh	C	T	12: 72,077,143		probably null	Het
Lipo3	C	T	19: 33,557,106		probably null	Het
Lman2l	G	T	1: 36,424,864	S171*	probably null	Het
Lrp1b	T	C	2: 41,511,508	D378G	probably damaging	Het
Map3k4	T	A	17: 12,248,063	D1104V	probably damaging	Het
Mpeg1	T	C	19: 12,461,223	V15A	probably benign	Het
Narf	C	T	11: 121,250,836	R356C	probably damaging	Het
Nebl	T	A	2: 17,393,023	Q487H	possibly damaging	Het
Olfm5	G	A	7: 104,160,926	A76V	probably benign	Het
Olfr1090	T	C	2: 86,753,887	M284V	probably benign	Het
Olfr339	T	A	2: 36,422,287	D296E	probably benign	Het
Olfr372	C	T	8: 72,058,400	T240M	probably damaging	Het
Olfr656	A	T	7: 104,618,581	I301F	probably damaging	Het
Olfr992	T	A	2: 85,399,961	S191C	probably damaging	Het
Palb2	A	T	7: 122,128,166	Y160*	probably null	Het
Paxip1	C	T	5: 27,744,185		probably benign	Het
Pclo	A	G	5: 14,679,797		probably benign	Het
Pdcd11	G	A	19: 47,119,862	V1223I	probably benign	Het
Pde6c	T	C	19: 38,169,365		probably benign	Het
Prss39	T	A	1: 34,502,200		probably benign	Het
Samd5	A	G	10: 9,674,939	W9R	probably damaging	Het
Sfr1	A	G	19: 47,735,018	*320W	probably null	Het
Sh3bp4	A	G	1: 89,145,314	N628S	possibly damaging	Het
Sim1	A	T	10: 50,907,961	I104F	probably damaging	Het
Slc1a3	T	C	15: 8,636,209	M519V	probably benign	Het
Smcp	T	A	3: 92,584,520	T7S	unknown	Het
Sp4	A	G	12: 118,300,816		probably benign	Het
Spag9	T	A	11: 94,093,539	I327N	probably damaging	Het
Thbs4	G	T	13: 92,754,410	H850N	probably benign	Het
Ubap2l	A	T	3: 90,021,373	S478T	possibly damaging	Het
Unc79	A	G	12: 103,088,434		probably benign	Het
Vmn2r85	A	G	10: 130,419,185		probably benign	Het
Wrap73	A	G	4: 154,142,500	D19G	possibly damaging	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
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
R1617:Prr12	UTSW	7	45049594	unclassified	probably benign
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
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'- AGCCAGCAGATTGAACTGAGTCG -3'
(R):5'- CAGGTAAGTGCTATTTCCAGCGGG -3'

Sequencing Primer
(F):5'- ATCTGGGGGACCAGGAC -3'
(R):5'- GCTGGAGAAGGGCTGTC -3'

Posted On

2013-04-11