Mutagenetix > Incidental Mutations

Incidental Mutation 'R5045:Prr12'

394322

Institutional Source

Beutler Lab

Gene Symbol

Prr12

Ensembl Gene

ENSMUSG00000046574

Gene Name

proline rich 12

Synonyms

MMRRC Submission

042635-MU

Accession Numbers

Is this an essential gene?

Possibly non essential (E-score: 0.275) question?

Stock #

R5045 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

45027563-45052881 bp(-) (GRCm38)

Type of Mutation

unclassified

DNA Base Change (assembly)

A to G at 45049894 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: V199A

SMART Domains

Protein: ENSMUSP00000054702
Gene: ENSMUSG00000046574
AA Change: V199A

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

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.8%
20x: 93.8%

Validation Efficiency

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: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1810062G17Rik	T	C	3: 36,476,178		probably benign	Het
2210408I21Rik	A	G	13: 77,267,808		probably null	Het
4930430A15Rik	T	A	2: 111,193,459	Q110L	unknown	Het
4930519P11Rik	A	T	2: 154,613,030	C136*	probably null	Het
4930519P11Rik	G	T	2: 154,613,062		probably benign	Het
Adgrb3	T	A	1: 25,074,779	H1189L	probably damaging	Het
Arhgap24	A	G	5: 102,891,877	I227V	possibly damaging	Het
Arhgap29	C	A	3: 122,002,595	N445K	probably benign	Het
Atp13a3	T	C	16: 30,339,876	H811R	probably benign	Het
Cd2ap	T	C	17: 42,807,960	N529S	probably benign	Het
Cdh7	T	A	1: 110,098,350	S439T	probably benign	Het
Ces3a	G	T	8: 105,050,616		probably null	Het
Cftr	T	A	6: 18,230,081	N408K	probably benign	Het
Chil5	T	C	3: 106,024,140	N136S	possibly damaging	Het
Col20a1	A	G	2: 181,006,845	D933G	probably damaging	Het
Crh	A	T	3: 19,693,989	L163*	probably null	Het
Ctps	A	C	4: 120,552,878		probably null	Het
Cyb5d2	A	G	11: 72,795,575	V63A	probably damaging	Het
Cyp2d11	T	A	15: 82,391,071		probably null	Het
Dclk3	A	T	9: 111,467,788	E133D	probably damaging	Het
Dhrs9	A	G	2: 69,392,995	D29G	probably benign	Het
Disp2	G	A	2: 118,792,062	E1092K	probably benign	Het
Enpp3	A	G	10: 24,776,767	I764T	probably damaging	Het
Epm2aip1	C	A	9: 111,273,359	R467S	possibly damaging	Het
Fam20a	T	C	11: 109,677,885	I272V	probably benign	Het
Fgb	T	C	3: 83,043,373	Y358C	probably damaging	Het
Gm11596	A	T	11: 99,792,869	S142T	unknown	Het
Gm4858	G	T	3: 93,074,217	D181Y	probably damaging	Het
Golga4	A	G	9: 118,565,656	T9A	probably benign	Het
Hmcn2	C	T	2: 31,409,081	P2813L	probably damaging	Het
Ighv1-9	C	T	12: 114,583,820	G34R	probably damaging	Het
Kalrn	A	C	16: 34,314,352	Y353*	probably null	Het
Klrk1	T	C	6: 129,617,503	Y42C	probably benign	Het
Lin9	T	A	1: 180,669,198	L351I	probably benign	Het
Mbtd1	T	C	11: 93,931,815	Y484H	probably benign	Het
Mki67	T	C	7: 135,707,904	R273G	possibly damaging	Het
Myh11	A	T	16: 14,239,527	L308*	probably null	Het
Nacc2	G	A	2: 26,090,138		probably null	Het
Nadsyn1	A	G	7: 143,806,969	L354P	probably damaging	Het
Ntrk3	T	A	7: 78,460,424	Q354L	probably benign	Het
Olfr1124	A	T	2: 87,435,146	I220L	probably damaging	Het
Olfr584	G	A	7: 103,086,457	G308E	probably benign	Het
Phactr3	T	C	2: 178,331,619	I470T	probably damaging	Het
Pkd1l3	C	T	8: 109,623,155	P211S	unknown	Het
Prickle2	T	C	6: 92,376,394	D753G	probably damaging	Het
Psd3	T	C	8: 67,713,825	E917G	probably damaging	Het
Rgsl1	T	A	1: 153,821,522	K551*	probably null	Het
Stag3	T	C	5: 138,304,478	L1033P	probably damaging	Het
Tcaf3	T	A	6: 42,593,684	Q378L	possibly damaging	Het
Tespa1	A	T	10: 130,362,035	K309*	probably null	Het
Trim69	A	G	2: 122,174,246	T275A	probably benign	Het
Txndc17	T	C	11: 72,207,711	Y30H	probably damaging	Het
Ugt2a2	A	T	5: 87,474,892	F72L	probably damaging	Het
Vmn2r59	A	T	7: 42,046,072	D305E	possibly damaging	Het
Vmn2r71	A	G	7: 85,624,389	I804V	probably benign	Het
Zfy2	T	C	Y: 2,107,159	K492E	possibly damaging	Het
Zkscan1	A	G	5: 138,100,920	H375R	probably 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
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
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
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
X0066:Prr12	UTSW	7	45047003	missense	unknown

Predicted Primers

PCR Primer
(F):5'- ACCCGAGAAGTTGTAGAGCTGG -3'
(R):5'- GGAACTCTTCATCTCTGGTGC -3'

Sequencing Primer
(F):5'- AGATTGAACTGAGTCGGG -3'
(R):5'- AGGTTCCAGCACCTTCCCG -3'

Posted On

2016-06-15