Mutagenetix > Incidental Mutation

Incidental Mutation 'R1266:Prr12'

151166

Institutional Source

Beutler Lab

Gene Symbol

Prr12

Ensembl Gene

ENSMUSG00000046574

Gene Name

proline rich 12

Synonyms

MMRRC Submission

039333-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.486) question?

Stock #

R1266 (G1)

Quality Score

171

Status

Not validated

Chromosome

Chromosomal Location

44676987-44702305 bp(-) (GRCm39)

Type of Mutation

unclassified

DNA Base Change (assembly)

A to G at 44699677 bp (GRCm39)

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]

AlphaFold

E9PYL2

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: S105P

SMART Domains

Protein: ENSMUSP00000054702
Gene: ENSMUSG00000046574
AA Change: S105P

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: 99.0%
3x: 98.0%
10x: 95.3%
20x: 89.4%

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: 18 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Apob	C	A	12: 8,056,093 (GRCm39)	T1492N	probably benign	Het
Brix1	T	C	15: 10,478,847 (GRCm39)	T191A	probably damaging	Het
C1qc	A	G	4: 136,617,668 (GRCm39)	S143P	possibly damaging	Het
Crim1	GGCTGCTGCTGCTGCTG	GGCTGCTGCTGCTG	17: 78,508,262 (GRCm39)		probably benign	Het
Defa22	G	T	8: 21,652,384 (GRCm39)	V17F	probably damaging	Het
Fer1l4	T	A	2: 155,888,169 (GRCm39)	T439S	possibly damaging	Het
Flt3	A	G	5: 147,293,670 (GRCm39)	S469P	probably benign	Het
Krtap19-9b	A	T	16: 88,728,940 (GRCm39)	S54T	unknown	Het
Ncor1	T	C	11: 62,224,866 (GRCm39)	D798G	probably damaging	Het
Oosp1	T	C	19: 11,645,163 (GRCm39)	H167R	possibly damaging	Het
Or5d16	A	T	2: 87,773,877 (GRCm39)	L32M	probably benign	Het
Poln	A	T	5: 34,290,453 (GRCm39)		probably null	Het
Primpol	A	T	8: 47,046,734 (GRCm39)	N187K	probably damaging	Het
Setd1b	A	G	5: 123,285,904 (GRCm39)	T317A	unknown	Het
Sgo2b	G	A	8: 64,381,455 (GRCm39)	T459M	probably benign	Het
Trappc9	G	A	15: 72,897,816 (GRCm39)	R377W	probably damaging	Het
Vmn2r115	ATCTTCT	ATCT	17: 23,578,962 (GRCm39)		probably benign	Het
Zfp455	C	T	13: 67,355,028 (GRCm39)	R99*	probably null	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
IGL02170:Prr12	APN	7	44,695,612 (GRCm39)	missense	unknown
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
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

Predicted Primers

PCR Primer
(F):5'- GGAAGGCTTCAAGTGGAGCACATC -3'
(R):5'- AGTCCTCCTCTGAACTGAACCTGG -3'

Sequencing Primer
(F):5'- CTTCAAGTGGAGCACATCATGAG -3'
(R):5'- GAACCTGGTTTAGTGCTTTTCC -3'

Posted On

2014-01-29