Mutagenetix > Incidental Mutations

Incidental Mutation 'R4094:Prr12'

317798

Institutional Source

Beutler Lab

Gene Symbol

Prr12

Ensembl Gene

ENSMUSG00000046574

Gene Name

proline rich 12

Synonyms

MMRRC Submission

041628-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.248) question?

Stock #

R4094 (G1)

Quality Score

170

Status

Not validated

Chromosome

Chromosomal Location

45027563-45052881 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 45047947 bp

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 848 (L848P)

Ref Sequence

ENSEMBL: ENSMUSP00000054702 (fasta)

Gene Model

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

Predicted Effect

unknown
Transcript: ENSMUST00000057293
AA Change: L848P

SMART Domains

Protein: ENSMUSP00000054702
Gene: ENSMUSG00000046574
AA Change: L848P

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

1x: 99.2%
3x: 98.6%
10x: 97.5%
20x: 95.8%

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: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca6	A	G	11: 110,180,366	C1500R	probably damaging	Het
Amz1	A	T	5: 140,752,166	M93L	probably damaging	Het
Asb18	A	T	1: 90,014,425	N51K	probably damaging	Het
Bcl11b	G	T	12: 107,916,835	P335Q	probably damaging	Het
Bsn	A	C	9: 108,113,870	V1561G	probably damaging	Het
Cadm2	A	T	16: 66,882,797	N49K	probably damaging	Het
Cct8	T	G	16: 87,487,628	I283L	possibly damaging	Het
Cdc25b	A	G	2: 131,189,117	M121V	probably benign	Het
Cpne4	A	G	9: 104,686,535	D37G	probably damaging	Het
Cym	A	G	3: 107,214,266	S237P	probably benign	Het
Dhx35	T	A	2: 158,842,356	I517N	probably damaging	Het
Ehf	T	C	2: 103,290,750		probably benign	Het
Erp29	A	G	5: 121,452,282		probably benign	Het
Fam160a2	T	C	7: 105,388,218	D386G	probably damaging	Het
Fgd6	C	A	10: 94,043,434	P50Q	probably damaging	Het
Foxn3	G	T	12: 99,196,441	D400E	probably damaging	Het
Frmd4a	A	G	2: 4,611,032	Y1031C	probably damaging	Het
Gna13	T	A	11: 109,396,416	I355N	probably damaging	Het
Hgs	T	A	11: 120,469,033	L21*	probably null	Het
Htr2a	G	A	14: 74,706,349	M456I	probably benign	Het
Itga2	T	C	13: 114,870,625	D389G	probably benign	Het
Kdm1b	T	C	13: 47,063,020	C289R	probably damaging	Het
Kdm4c	T	A	4: 74,311,678	D237E	probably benign	Het
Lilr4b	A	T	10: 51,481,410	E114V	probably damaging	Het
Loxl1	G	A	9: 58,312,456	T144I	probably damaging	Het
Macf1	C	T	4: 123,459,269	R1784Q	probably benign	Het
Maml2	G	A	9: 13,620,153	S221N	probably benign	Het
Map3k1	A	G	13: 111,756,162	M853T	possibly damaging	Het
Micu3	T	G	8: 40,335,888	S147A	probably null	Het
Nccrp1	T	C	7: 28,544,226	Y261C	possibly damaging	Het
Olfr1030	A	G	2: 85,984,218	Y126C	probably damaging	Het
Olfr1049	T	C	2: 86,255,330	D121G	probably damaging	Het
Olfr282	T	C	15: 98,437,682	L71P	probably damaging	Het
Olfr611	T	A	7: 103,518,037	I116F	possibly damaging	Het
Pclo	C	A	5: 14,855,645	T4963N	unknown	Het
Pdxk	T	C	10: 78,464,810	H13R	probably damaging	Het
Plcg1	A	G	2: 160,747,841	E95G	probably damaging	Het
Ppargc1a	T	C	5: 51,490,064	N276S	possibly damaging	Het
Ptcd2	A	G	13: 99,332,449	I202T	probably damaging	Het
Rab27a	A	C	9: 73,075,544	I44L	probably damaging	Het
Rbfox2	A	T	15: 77,132,725	S82T	probably damaging	Het
Rsbn1	T	A	3: 103,928,658	F337L	probably damaging	Het
Samd8	T	C	14: 21,793,045	I414T	probably damaging	Het
Sema3e	A	G	5: 14,233,690	I478V	probably benign	Het
Sfswap	A	G	5: 129,560,741	S821G	possibly damaging	Het
Slc2a3	A	T	6: 122,735,568	I239N	probably benign	Het
Spc25	G	A	2: 69,202,631	S50L	probably damaging	Het
St8sia4	A	T	1: 95,627,686	S206R	possibly damaging	Het
Syngr3	G	A	17: 24,689,843		probably benign	Het
Tigd4	A	G	3: 84,594,640	D288G	probably damaging	Het
Trim34b	A	G	7: 104,334,588	M251V	probably benign	Het
Ttll5	A	T	12: 85,956,602	R214*	probably null	Het
Ttn	T	C	2: 76,900,516		probably benign	Het
Vmp1	A	G	11: 86,643,580	I167T	probably benign	Het
Zfp64	T	C	2: 168,925,935	T586A	probably benign	Het
Zfp943	T	A	17: 21,992,982	C350S	probably damaging	Het
Zscan4f	A	T	7: 11,401,258	N197I	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
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
X0066:Prr12	UTSW	7	45047003	missense	unknown

Predicted Primers

PCR Primer
(F):5'- CGTCCTGAAGCAATGAGTCG -3'
(R):5'- TTCTTGCAGAAGAGCCCAC -3'

Sequencing Primer
(F):5'- TACAAACCGCGGTGCCTTG -3'
(R):5'- GACCTTCCCATGGTGCTG -3'

Posted On

2015-05-15