Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02494:Prr12'

295790

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Prr12

Ensembl Gene

ENSMUSG00000046574

Gene Name

proline rich 12

Synonyms

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.586) question?

Stock #

IGL02494

Quality Score

Status

Chromosome

Chromosomal Location

45027563-45052881 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 45028846 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Asparagine at position 1958 (K1958N)

Ref Sequence

ENSEMBL: ENSMUSP00000054702 (fasta)

Gene Model

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

AlphaFold

E9PYL2

Predicted Effect

unknown
Transcript: ENSMUST00000057293
AA Change: K1958N

SMART Domains

Protein: ENSMUSP00000054702
Gene: ENSMUSG00000046574
AA Change: K1958N

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: ENSMUST00000210410

Coding Region Coverage

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: 44 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aldob	C	T	4: 49,541,138	C178Y	possibly damaging	Het
Arg2	A	G	12: 79,151,923	R242G	probably benign	Het
Ash1l	T	A	3: 89,066,218	L2528*	probably null	Het
Astn2	T	A	4: 65,992,348	M468L	probably benign	Het
Bglap2	A	T	3: 88,377,936	C74*	probably null	Het
Cand1	A	G	10: 119,213,617	V408A	probably benign	Het
Ccdc14	A	G	16: 34,723,414	Y714C	probably damaging	Het
Ccdc88c	C	T	12: 100,945,475	G707D	probably benign	Het
Cdk13	G	A	13: 17,739,125	R890*	probably null	Het
Cep192	A	G	18: 67,804,383	E61G	probably benign	Het
Ctdspl	T	C	9: 119,037,416	L181P	probably damaging	Het
Dock7	C	T	4: 98,989,234	V442M	probably benign	Het
Dopey1	T	C	9: 86,526,818	V1860A	probably damaging	Het
Efr3b	C	T	12: 3,983,391	V139I	probably benign	Het
Fscn2	G	A	11: 120,362,402	V232M	probably benign	Het
Gemin5	A	T	11: 58,121,757	C1458S	probably benign	Het
Glrb	A	G	3: 80,845,232	V408A	probably benign	Het
Gtse1	C	T	15: 85,867,503	P299L	probably damaging	Het
Hcfc1r1	T	A	17: 23,674,585	M46K	probably damaging	Het
Hdc	A	G	2: 126,594,121	F610S	probably benign	Het
Hip1	A	T	5: 135,444,791	C224*	probably null	Het
Hsd17b10	G	T	X: 152,004,234	A241S	probably benign	Het
Igsf10	G	T	3: 59,328,006	Q1585K	probably damaging	Het
Kat2b	T	C	17: 53,653,205	Y514H	probably damaging	Het
Krt78	T	C	15: 101,954,051	I58M	probably benign	Het
Lcat	C	A	8: 105,941,939		probably benign	Het
Naca	G	A	10: 128,041,310		probably benign	Het
Nbea	T	C	3: 55,805,351	K2102E	probably benign	Het
Ocrl	G	A	X: 47,933,438	D262N	probably benign	Het
Olfr1272	G	A	2: 90,281,951	S208F	probably benign	Het
Olfr371	C	A	8: 85,230,683	L63I	possibly damaging	Het
Olfr395	A	C	11: 73,906,724	I256S	possibly damaging	Het
Olfr732	A	T	14: 50,282,226	V9D	probably damaging	Het
Patj	T	A	4: 98,703,987		probably benign	Het
Pcdhb17	G	A	18: 37,485,294	A46T	possibly damaging	Het
Phf8	T	C	X: 151,625,231	V859A	probably benign	Het
Plec	T	A	15: 76,176,779	E3054V	probably damaging	Het
Psmf1	A	G	2: 151,741,009		probably null	Het
Rsu1	T	C	2: 13,217,191		probably null	Het
Samm50	T	C	15: 84,195,814	V31A	probably benign	Het
St14	A	G	9: 31,108,645	V56A	possibly damaging	Het
Trpc1	T	C	9: 95,708,307	N699S	probably damaging	Het
Ttn	A	T	2: 76,743,800	M25583K	probably damaging	Het
Utrn	A	G	10: 12,710,054	V993A	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
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
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

Posted On

2015-04-16