Mutagenetix > Incidental Mutation

Incidental Mutation 'R4523:Prr12'

334305

Institutional Source

Beutler Lab

Gene Symbol

Prr12

Ensembl Gene

ENSMUSG00000046574

Gene Name

proline rich 12

Synonyms

MMRRC Submission

042004-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.586) question?

Stock #

R4523 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

45027563-45052881 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 45048523 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 656 (D656G)

Ref Sequence

ENSEMBL: ENSMUSP00000054702 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000057293]

AlphaFold

E9PYL2

Predicted Effect

unknown
Transcript: ENSMUST00000057293
AA Change: D656G

SMART Domains

Protein: ENSMUSP00000054702
Gene: ENSMUSG00000046574
AA Change: D656G

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

Meta Mutation Damage Score

0.0832

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.2%

Validation Efficiency

100% (61/61)

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: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Atp8a1	G	T	5: 67,667,600	T796K	probably benign	Het
Atr	T	C	9: 95,862,863	S78P	probably damaging	Het
BC017643	A	G	11: 121,224,108		probably benign	Het
Calb2	C	T	8: 110,148,509		probably null	Het
Ccdc88c	G	T	12: 100,913,332	S1843R	possibly damaging	Het
Cdca7	A	G	2: 72,479,698	S77G	probably damaging	Het
Cnot2	C	T	10: 116,581,474		probably benign	Het
Cstf2t	T	A	19: 31,083,082	V6D	possibly damaging	Het
Dido1	T	C	2: 180,672,292	I852V	probably damaging	Het
Dmgdh	C	T	13: 93,688,630	Q154*	probably null	Het
Dnah12	T	C	14: 26,770,022	F1138S	probably damaging	Het
Dnah12	G	A	14: 26,876,958	A998T	possibly damaging	Het
Dusp5	T	G	19: 53,537,601	Y225D	probably damaging	Het
Fam122c	G	A	X: 53,293,499	R94H	possibly damaging	Het
Fam126a	T	C	5: 23,965,122	T410A	probably benign	Het
Fam193a	G	A	5: 34,443,371	D601N	probably benign	Het
Fbxo41	A	G	6: 85,484,042	I228T	probably damaging	Het
Fmo2	T	C	1: 162,887,708	K115R	probably benign	Het
Gak	G	T	5: 108,576,566	Q1093K	probably benign	Het
Gm5277	G	T	3: 78,892,186		noncoding transcript	Het
Gm7173	A	T	X: 79,509,995	N291K	possibly damaging	Het
Hgsnat	A	G	8: 25,968,361		probably null	Het
Map3k3	G	A	11: 106,148,868	R278H	probably damaging	Het
Mrvi1	T	C	7: 110,923,841	M338V	probably benign	Het
Muc4	T	C	16: 32,736,336		probably benign	Het
Nectin3	C	A	16: 46,448,590	R483L	probably benign	Het
Nop2	G	T	6: 125,133,552	R47L	probably damaging	Het
Ntng1	A	G	3: 109,934,996	S154P	probably damaging	Het
Olfml2b	T	C	1: 170,669,222	I474T	probably benign	Het
Olfr1054	C	G	2: 86,333,300	D19H	probably benign	Het
Olfr843	T	C	9: 19,249,229	T57A	probably damaging	Het
Optc	G	T	1: 133,903,754	T138K	possibly damaging	Het
Orc4	G	A	2: 48,937,489	P31S	probably benign	Het
Pard3	C	T	8: 127,398,627	P421S	probably benign	Het
Pcdhb22	G	T	18: 37,520,421	E647D	probably benign	Het
Pclo	A	G	5: 14,679,992		probably benign	Het
Prkce	G	T	17: 86,490,750		probably null	Het
Ptprk	A	T	10: 28,466,052	D485V	probably damaging	Het
Ptprn2	T	C	12: 116,876,000	L381P	probably damaging	Het
Rnf144b	T	C	13: 47,207,537	I51T	probably benign	Het
Rpl10l	T	C	12: 66,283,738	D207G	probably benign	Het
Sh3glb2	A	T	2: 30,350,699	V118E	probably damaging	Het
Sipa1l2	C	T	8: 125,492,424	G58D	probably damaging	Het
Slc5a4a	C	T	10: 76,148,362	A46V	probably damaging	Het
Tepp	T	A	8: 95,313,010	Y18*	probably null	Het
Tgm7	C	A	2: 121,098,588		probably null	Het
Tjap1	A	G	17: 46,258,792	V424A	probably benign	Het
Trpm6	A	T	19: 18,796,500	I414F	probably damaging	Het
Tsr3	C	G	17: 25,241,749	D196E	probably benign	Het
Ubqlnl	C	T	7: 104,149,718	V191M	probably benign	Het
Vmn2r72	T	A	7: 85,751,926	H95L	probably benign	Het
Vmn2r97	T	A	17: 18,929,071	N240K	probably benign	Het
Xdh	C	A	17: 73,898,344	G1042V	probably damaging	Het
Zcchc4	A	G	5: 52,784,067	D68G	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
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
R9095:Prr12	UTSW	7	45045843	missense	unknown
R9148:Prr12	UTSW	7	45047818	missense	unknown
R9240:Prr12	UTSW	7	45034651	missense	probably damaging	1.00
R9272:Prr12	UTSW	7	45043387	missense	probably damaging	1.00
R9503:Prr12	UTSW	7	45043596	missense	unknown
R9533:Prr12	UTSW	7	45049268	missense	unknown
R9762:Prr12	UTSW	7	45047530	missense	unknown
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'- TGAACGACTGAGGTGGCTAGTC -3'
(R):5'- AGTTCGGTCTTAGCCTCAGC -3'

Sequencing Primer
(F):5'- GCTAGTCCCTCGGGAGTTTC -3'
(R):5'- TCAGCTCCGTTCCTGGCG -3'

Posted On

2015-08-18