Mutagenetix > Incidental Mutation

Incidental Mutation 'R0128:Prr12'

21509

Institutional Source

Beutler Lab

Gene Symbol

Prr12

Ensembl Gene

ENSMUSG00000046574

Gene Name

proline rich 12

Synonyms

MMRRC Submission

038413-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.547) question?

Stock #

R0128 (G1)

Quality Score

165

Status

Validated (trace)

Chromosome

Chromosomal Location

44676987-44702305 bp(-) (GRCm39)

Type of Mutation

unclassified

DNA Base Change (assembly)

A to G at 44699463 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] [ENSMUST00000211014] [ENSMUST00000211337] [ENSMUST00000210690]

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: Y151H

SMART Domains

Protein: ENSMUSP00000054702
Gene: ENSMUSG00000046574
AA Change: Y151H

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: ENSMUST00000211014

Predicted Effect

probably benign
Transcript: ENSMUST00000211337

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000211084

Predicted Effect

probably benign
Transcript: ENSMUST00000210690

Meta Mutation Damage Score

0.0836

Coding Region Coverage

1x: 99.0%
3x: 97.6%
10x: 93.0%
20x: 79.3%

Validation Efficiency

99% (84/85)

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: 79 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A2ml1	A	G	6: 128,552,602 (GRCm39)		probably benign	Het
Abcd4	T	G	12: 84,659,126 (GRCm39)	Q210P	possibly damaging	Het
Ablim2	G	A	5: 35,966,520 (GRCm39)		probably benign	Het
Acte1	G	T	7: 143,445,492 (GRCm39)	G178C	probably damaging	Het
Actl6b	A	G	5: 137,553,327 (GRCm39)	N113S	probably benign	Het
Actn3	A	T	19: 4,921,643 (GRCm39)	V179E	probably damaging	Het
Aff4	C	A	11: 53,306,293 (GRCm39)	T1145N	probably damaging	Het
Ankrd42	G	A	7: 92,241,067 (GRCm39)	Q431*	probably null	Het
Anxa9	A	G	3: 95,209,733 (GRCm39)	S129P	probably benign	Het
Arfgef2	T	G	2: 166,677,639 (GRCm39)	I88S	probably damaging	Het
Asap3	C	A	4: 135,961,915 (GRCm39)	N285K	probably damaging	Het
Atp6v0a2	A	G	5: 124,790,248 (GRCm39)	N477S	probably damaging	Het
Atp7b	C	T	8: 22,518,188 (GRCm39)	E205K	possibly damaging	Het
Atp8b5	T	A	4: 43,369,715 (GRCm39)		probably null	Het
C87436	G	A	6: 86,446,809 (GRCm39)	G533D	probably damaging	Het
Ccdc138	T	A	10: 58,364,182 (GRCm39)	I314N	probably damaging	Het
Ccs	A	G	19: 4,875,654 (GRCm39)	F237S	probably damaging	Het
Ccz1	T	G	5: 143,946,112 (GRCm39)		probably benign	Het
Cdcp2	C	T	4: 106,963,904 (GRCm39)		probably benign	Het
Chd1	A	G	17: 17,613,829 (GRCm39)	N531S	probably damaging	Het
Clptm1	A	T	7: 19,368,932 (GRCm39)	F476I	probably damaging	Het
Colec12	C	T	18: 9,858,921 (GRCm39)	P568L	unknown	Het
Cped1	T	A	6: 22,121,038 (GRCm39)	Y373N	probably benign	Het
Cr2	A	T	1: 194,848,539 (GRCm39)	V328D	probably damaging	Het
D630045J12Rik	A	T	6: 38,126,706 (GRCm39)		probably benign	Het
Dcdc2a	A	T	13: 25,371,655 (GRCm39)		probably benign	Het
Dlg1	G	T	16: 31,676,883 (GRCm39)		probably null	Het
Epb41l5	A	C	1: 119,477,632 (GRCm39)	V705G	possibly damaging	Het
Ergic3	C	A	2: 155,853,060 (GRCm39)	R43S	possibly damaging	Het
Flnb	T	C	14: 7,901,951 (GRCm38)	V938A	probably damaging	Het
Frmd4a	T	C	2: 4,608,903 (GRCm39)	Y928H	probably damaging	Het
Fyn	C	T	10: 39,387,978 (GRCm39)	T78M	probably benign	Het
Gdap2	A	G	3: 100,109,311 (GRCm39)	T443A	probably damaging	Het
Ghrl	A	T	6: 113,694,129 (GRCm39)		probably benign	Het
Gm4787	T	A	12: 81,424,521 (GRCm39)	K546*	probably null	Het
Gm6576	C	G	15: 27,026,086 (GRCm39)		noncoding transcript	Het
Got1	C	T	19: 43,512,816 (GRCm39)	D27N	probably benign	Het
Gucy2c	C	T	6: 136,681,247 (GRCm39)	V946I	probably damaging	Het
Hectd4	T	C	5: 121,487,306 (GRCm39)	Y3434H	possibly damaging	Het
Hp1bp3	C	T	4: 137,964,520 (GRCm39)	S348F	probably damaging	Het
Itpr1	A	G	6: 108,448,170 (GRCm39)		probably benign	Het
Kctd1	G	A	18: 15,107,237 (GRCm39)	P743S	probably benign	Het
Klhl23	T	C	2: 69,664,310 (GRCm39)	V553A	probably damaging	Het
Krt24	T	C	11: 99,171,093 (GRCm39)	D495G	probably damaging	Het
L3hypdh	C	T	12: 72,123,917 (GRCm39)		probably null	Het
Lipo3	C	T	19: 33,534,506 (GRCm39)		probably null	Het
Lman2l	G	T	1: 36,463,945 (GRCm39)	S171*	probably null	Het
Lrp1b	T	C	2: 41,401,520 (GRCm39)	D378G	probably damaging	Het
Map3k4	T	A	17: 12,466,950 (GRCm39)	D1104V	probably damaging	Het
Mpeg1	T	C	19: 12,438,587 (GRCm39)	V15A	probably benign	Het
Narf	C	T	11: 121,141,662 (GRCm39)	R356C	probably damaging	Het
Nebl	T	A	2: 17,397,834 (GRCm39)	Q487H	possibly damaging	Het
Olfm5	G	A	7: 103,810,133 (GRCm39)	A76V	probably benign	Het
Or1j11	T	A	2: 36,312,299 (GRCm39)	D296E	probably benign	Het
Or2z8	C	T	8: 72,812,244 (GRCm39)	T240M	probably damaging	Het
Or52p1	A	T	7: 104,267,788 (GRCm39)	I301F	probably damaging	Het
Or5ak22	T	A	2: 85,230,305 (GRCm39)	S191C	probably damaging	Het
Or8k40	T	C	2: 86,584,231 (GRCm39)	M284V	probably benign	Het
Palb2	A	T	7: 121,727,389 (GRCm39)	Y160*	probably null	Het
Pasd1	T	C	X: 70,983,161 (GRCm39)	C378R	possibly damaging	Het
Paxip1	C	T	5: 27,949,183 (GRCm39)		probably benign	Het
Pclo	A	G	5: 14,729,811 (GRCm39)		probably benign	Het
Pdcd11	G	A	19: 47,108,301 (GRCm39)	V1223I	probably benign	Het
Pde6c	T	C	19: 38,157,813 (GRCm39)		probably benign	Het
Prss39	T	A	1: 34,541,281 (GRCm39)		probably benign	Het
Samd5	A	G	10: 9,550,683 (GRCm39)	W9R	probably damaging	Het
Sfr1	A	G	19: 47,723,457 (GRCm39)	*320W	probably null	Het
Sft2d1rt	A	G	11: 45,943,120 (GRCm39)	M1T	probably null	Het
Sh3bp4	A	G	1: 89,073,036 (GRCm39)	N628S	possibly damaging	Het
Sim1	A	T	10: 50,784,057 (GRCm39)	I104F	probably damaging	Het
Slc1a3	T	C	15: 8,665,693 (GRCm39)	M519V	probably benign	Het
Smcp	T	A	3: 92,491,827 (GRCm39)	T7S	unknown	Het
Sp4	A	G	12: 118,264,551 (GRCm39)		probably benign	Het
Spag9	T	A	11: 93,984,365 (GRCm39)	I327N	probably damaging	Het
Thbs4	G	T	13: 92,890,918 (GRCm39)	H850N	probably benign	Het
Ubap2l	A	T	3: 89,928,680 (GRCm39)	S478T	possibly damaging	Het
Unc79	A	G	12: 103,054,693 (GRCm39)		probably benign	Het
Vmn2r85	A	G	10: 130,255,054 (GRCm39)		probably benign	Het
Wrap73	A	G	4: 154,226,957 (GRCm39)	D19G	possibly 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
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
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

Predicted Primers

PCR Primer
(F):5'- AGCCAGCAGATTGAACTGAGTCG -3'
(R):5'- CAGGTAAGTGCTATTTCCAGCGGG -3'

Sequencing Primer
(F):5'- ATCTGGGGGACCAGGAC -3'
(R):5'- GCTGGAGAAGGGCTGTC -3'

Posted On

2013-04-11