Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02170:Prr12'

282865

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 non essential (E-score: 0.486) question?

Stock #

IGL02170

Quality Score

Status

Chromosome

Chromosomal Location

44676987-44702305 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 44695612 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Tryptophan at position 1285 (R1285W)

Ref Sequence

ENSEMBL: ENSMUSP00000054702 (fasta)

Gene Model

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

AlphaFold

E9PYL2

Predicted Effect

unknown
Transcript: ENSMUST00000057293
AA Change: R1285W

SMART Domains

Protein: ENSMUSP00000054702
Gene: ENSMUSG00000046574
AA Change: R1285W

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

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: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2610318N02Rik	G	A	16: 16,936,196 (GRCm39)	P176L	probably damaging	Het
4932414N04Rik	A	G	2: 68,561,467 (GRCm39)	M265V	probably benign	Het
A2ml1	T	C	6: 128,524,173 (GRCm39)	E1153G	possibly damaging	Het
Adam22	T	C	5: 8,184,845 (GRCm39)	T452A	probably benign	Het
Ambra1	A	G	2: 91,597,432 (GRCm39)	T56A	possibly damaging	Het
Atp1a4	A	G	1: 172,062,103 (GRCm39)	V674A	possibly damaging	Het
Ccnb1	A	T	13: 100,919,994 (GRCm39)	Y172*	probably null	Het
Chrdl2	A	T	7: 99,683,821 (GRCm39)	T416S	possibly damaging	Het
Col6a5	A	G	9: 105,805,621 (GRCm39)	L1095P	unknown	Het
Dhx16	T	C	17: 36,200,361 (GRCm39)	C901R	probably damaging	Het
Dip2c	A	G	13: 9,656,371 (GRCm39)	T732A	probably benign	Het
Dnah12	A	C	14: 26,495,069 (GRCm39)	I1376L	probably damaging	Het
Dock2	A	T	11: 34,217,949 (GRCm39)	L1207Q	probably damaging	Het
Eif2ak1	A	T	5: 143,816,278 (GRCm39)	H192L	probably benign	Het
Evi5	T	A	5: 107,969,750 (GRCm39)	T54S	probably benign	Het
Fam151a	T	C	4: 106,592,795 (GRCm39)		probably null	Het
Fam98a	C	T	17: 75,847,187 (GRCm39)		probably null	Het
Frmd4a	G	A	2: 4,570,988 (GRCm39)	R306K	probably damaging	Het
Fxyd7	C	A	7: 30,744,432 (GRCm39)	V28L	possibly damaging	Het
Gabrb1	T	A	5: 72,294,073 (GRCm39)	I449K	probably damaging	Het
Gkn3	G	T	6: 87,360,493 (GRCm39)	D167E	possibly damaging	Het
Gm14496	A	T	2: 181,638,144 (GRCm39)	Y406F	probably damaging	Het
Gm8603	T	A	17: 13,737,073 (GRCm39)		noncoding transcript	Het
Hecw1	T	C	13: 14,438,743 (GRCm39)	N880S	possibly damaging	Het
Hivep2	C	A	10: 14,003,548 (GRCm39)	Q49K	possibly damaging	Het
Hscb	T	A	5: 110,987,492 (GRCm39)	S35C	probably damaging	Het
Hspa12a	T	G	19: 58,793,113 (GRCm39)	K357N	probably benign	Het
Kcnu1	A	T	8: 26,427,588 (GRCm39)	I302F	probably damaging	Het
Krtap5-3	T	A	7: 141,756,215 (GRCm39)	C351S	unknown	Het
Mvd	A	G	8: 123,164,747 (GRCm39)	V142A	probably benign	Het
Myo1f	A	T	17: 33,797,246 (GRCm39)	I143L	probably benign	Het
Ncoa7	T	A	10: 30,565,849 (GRCm39)	E599D	possibly damaging	Het
Nfasc	A	T	1: 132,538,104 (GRCm39)	C495*	probably null	Het
Nfx1	G	A	4: 41,018,019 (GRCm39)	G920E	probably damaging	Het
Nlrp4g	T	G	9: 124,348,980 (GRCm38)		noncoding transcript	Het
Nup85	T	A	11: 115,468,757 (GRCm39)	V200E	probably damaging	Het
Or2z2	T	A	11: 58,345,906 (GRCm39)	I290F	probably damaging	Het
Or5an1c	T	C	19: 12,218,120 (GRCm39)	M302V	probably benign	Het
Pask	T	C	1: 93,238,606 (GRCm39)	Q1293R	possibly damaging	Het
Ppfia2	T	A	10: 106,636,646 (GRCm39)	S232T	probably benign	Het
Rimoc1	C	T	15: 4,015,848 (GRCm39)	V239I	probably benign	Het
Rxylt1	A	T	10: 121,930,548 (GRCm39)	D126E	probably damaging	Het
Slc1a1	T	A	19: 28,880,153 (GRCm39)	F278I	possibly damaging	Het
Sos1	G	T	17: 80,705,719 (GRCm39)	T1284N	probably damaging	Het
Sp2	T	A	11: 96,847,036 (GRCm39)	Q475L	probably damaging	Het
Spmip2	C	A	3: 79,356,741 (GRCm39)		probably benign	Het
Spmip2	C	A	3: 79,356,742 (GRCm39)		probably benign	Het
Sspo	A	T	6: 48,444,917 (GRCm39)	T2134S	possibly damaging	Het
Tbx1	C	A	16: 18,401,552 (GRCm39)	A300S	probably benign	Het
Uap1	A	C	1: 169,994,281 (GRCm39)	V65G	probably benign	Het
Ubr2	G	A	17: 47,278,123 (GRCm39)	T738I	probably benign	Het
Uvrag	A	T	7: 98,758,297 (GRCm39)	Y81*	probably null	Het
Vmn2r116	T	G	17: 23,603,907 (GRCm39)	I44S	probably benign	Het
Xkr8	A	T	4: 132,455,688 (GRCm39)	Y228*	probably null	Het
Zbtb20	A	G	16: 43,430,025 (GRCm39)	I106V	possibly damaging	Het
Zc3h7a	C	T	16: 10,964,259 (GRCm39)	S683N	probably benign	Het
Zfp146	A	T	7: 29,861,905 (GRCm39)	C46S	possibly damaging	Het
Zfp871	T	C	17: 32,994,662 (GRCm39)	E152G	possibly damaging	Het
Zfp90	T	C	8: 107,146,156 (GRCm39)	V57A	probably damaging	Het
Zhx3	A	T	2: 160,621,718 (GRCm39)	N816K	probably damaging	Het

Other mutations in Prr12

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01144:Prr12	APN	7	44,696,882 (GRCm39)	missense	unknown
IGL01603:Prr12	APN	7	44,692,909 (GRCm39)	missense	probably damaging	0.96
IGL01941:Prr12	APN	7	44,698,083 (GRCm39)	unclassified	probably benign
IGL02043:Prr12	APN	7	44,699,429 (GRCm39)	unclassified	probably benign
IGL02494:Prr12	APN	7	44,678,270 (GRCm39)	missense	unknown
IGL02947:Prr12	APN	7	44,697,980 (GRCm39)	missense	unknown
R0128:Prr12	UTSW	7	44,699,463 (GRCm39)	unclassified	probably benign
R0255:Prr12	UTSW	7	44,699,415 (GRCm39)	unclassified	probably benign
R0556:Prr12	UTSW	7	44,680,093 (GRCm39)	missense	unknown
R1168:Prr12	UTSW	7	44,678,471 (GRCm39)	missense	unknown
R1266:Prr12	UTSW	7	44,699,677 (GRCm39)	unclassified	probably benign
R1374:Prr12	UTSW	7	44,695,642 (GRCm39)	missense	unknown
R1531:Prr12	UTSW	7	44,677,954 (GRCm39)	missense	unknown
R1537:Prr12	UTSW	7	44,678,366 (GRCm39)	missense	unknown
R1572:Prr12	UTSW	7	44,678,224 (GRCm39)	missense	unknown
R1617:Prr12	UTSW	7	44,699,018 (GRCm39)	unclassified	probably benign
R1647:Prr12	UTSW	7	44,683,616 (GRCm39)	missense	probably benign	0.20
R1694:Prr12	UTSW	7	44,678,003 (GRCm39)	missense	unknown
R1732:Prr12	UTSW	7	44,697,780 (GRCm39)	missense	unknown
R1819:Prr12	UTSW	7	44,698,121 (GRCm39)	unclassified	probably benign
R2114:Prr12	UTSW	7	44,695,506 (GRCm39)	missense	unknown
R2210:Prr12	UTSW	7	44,698,775 (GRCm39)	unclassified	probably benign
R2846:Prr12	UTSW	7	44,695,436 (GRCm39)	missense	unknown
R2902:Prr12	UTSW	7	44,697,036 (GRCm39)	missense	unknown
R2985:Prr12	UTSW	7	44,695,436 (GRCm39)	missense	unknown
R4094:Prr12	UTSW	7	44,697,371 (GRCm39)	missense	unknown
R4498:Prr12	UTSW	7	44,695,338 (GRCm39)	missense	unknown
R4523:Prr12	UTSW	7	44,697,947 (GRCm39)	missense	unknown
R4763:Prr12	UTSW	7	44,697,119 (GRCm39)	missense	unknown
R4775:Prr12	UTSW	7	44,700,749 (GRCm39)	unclassified	probably benign
R4995:Prr12	UTSW	7	44,700,653 (GRCm39)	unclassified	probably benign
R5007:Prr12	UTSW	7	44,699,225 (GRCm39)	unclassified	probably benign
R5045:Prr12	UTSW	7	44,699,318 (GRCm39)	unclassified	probably benign
R5184:Prr12	UTSW	7	44,695,801 (GRCm39)	missense	unknown
R5897:Prr12	UTSW	7	44,692,808 (GRCm39)	missense	probably damaging	1.00
R6847:Prr12	UTSW	7	44,695,164 (GRCm39)	missense	unknown
R6912:Prr12	UTSW	7	44,698,269 (GRCm39)	unclassified	probably benign
R7147:Prr12	UTSW	7	44,683,274 (GRCm39)	missense	unknown
R8120:Prr12	UTSW	7	44,684,166 (GRCm39)	missense	probably damaging	1.00
R8292:Prr12	UTSW	7	44,684,112 (GRCm39)	missense	probably damaging	1.00
R8822:Prr12	UTSW	7	44,699,763 (GRCm39)	missense	unknown
R9039:Prr12	UTSW	7	44,684,146 (GRCm39)	missense	probably damaging	1.00
R9095:Prr12	UTSW	7	44,695,267 (GRCm39)	missense	unknown
R9148:Prr12	UTSW	7	44,697,242 (GRCm39)	missense	unknown
R9240:Prr12	UTSW	7	44,684,075 (GRCm39)	missense	probably damaging	1.00
R9272:Prr12	UTSW	7	44,692,811 (GRCm39)	missense	probably damaging	1.00
R9503:Prr12	UTSW	7	44,693,020 (GRCm39)	missense	unknown
R9533:Prr12	UTSW	7	44,698,692 (GRCm39)	missense	unknown
R9762:Prr12	UTSW	7	44,696,954 (GRCm39)	missense	unknown
X0066:Prr12	UTSW	7	44,696,427 (GRCm39)	missense	unknown
Z1176:Prr12	UTSW	7	44,702,280 (GRCm39)	missense	unknown
Z1177:Prr12	UTSW	7	44,699,710 (GRCm39)	missense	unknown

Posted On

2015-04-16