Mutagenetix > Incidental Mutation

Incidental Mutation 'R1537:Prr12'

169595

Institutional Source

Beutler Lab

Gene Symbol

Prr12

Ensembl Gene

ENSMUSG00000046574

Gene Name

proline rich 12

Synonyms

MMRRC Submission

039576-MU

Accession Numbers

Essential gene?

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

Stock #

R1537 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

44676987-44702305 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 44678366 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Aspartic acid at position 1954 (A1954D)

Ref Sequence

ENSEMBL: ENSMUSP00000054702 (fasta)

Gene Model

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

AlphaFold

E9PYL2

Predicted Effect

unknown
Transcript: ENSMUST00000057293
AA Change: A1954D

SMART Domains

Protein: ENSMUSP00000054702
Gene: ENSMUSG00000046574
AA Change: A1954D

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

1x: 99.1%
3x: 98.2%
10x: 96.0%
20x: 91.7%

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: 67 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700003H04Rik	T	A	3: 124,372,124 (GRCm39)	H86L	possibly damaging	Het
4930519G04Rik	A	G	5: 115,008,278 (GRCm39)	T31A	probably benign	Het
Ahcyl1	A	G	3: 107,603,505 (GRCm39)	F30S	probably benign	Het
Alox5ap	G	A	5: 149,201,993 (GRCm39)		probably null	Het
Amtn	A	G	5: 88,526,729 (GRCm39)	S53G	probably null	Het
Arap3	A	T	18: 38,122,737 (GRCm39)		probably null	Het
Ash1l	T	A	3: 88,979,783 (GRCm39)	V2769E	probably damaging	Het
Atp8b1	C	T	18: 64,678,335 (GRCm39)	V854M	probably damaging	Het
Bhlha9	C	T	11: 76,563,457 (GRCm39)	S28L	probably benign	Het
Bltp2	T	A	11: 78,180,169 (GRCm39)	Y2150N	probably damaging	Het
Bmpr2	A	G	1: 59,907,285 (GRCm39)	T793A	probably benign	Het
Ccdc80	G	A	16: 44,916,299 (GRCm39)	A352T	probably benign	Het
Chst2	A	T	9: 95,288,194 (GRCm39)	F51I	probably benign	Het
Col14a1	A	G	15: 55,244,163 (GRCm39)	N412S	unknown	Het
Dclk2	T	C	3: 86,713,491 (GRCm39)	I451V	probably damaging	Het
Ddb2	A	G	2: 91,065,234 (GRCm39)	S64P	probably benign	Het
Diaph1	A	G	18: 38,029,146 (GRCm39)		probably null	Het
Dnai3	T	C	3: 145,748,504 (GRCm39)	E870G	probably damaging	Het
Dusp4	G	T	8: 35,285,570 (GRCm39)	R277L	probably benign	Het
Fmnl2	A	G	2: 52,995,549 (GRCm39)	E424G	probably damaging	Het
Garem1	A	T	18: 21,301,931 (GRCm39)		probably null	Het
Gnpat	A	G	8: 125,597,555 (GRCm39)	E39G	probably damaging	Het
Golgb1	A	T	16: 36,719,150 (GRCm39)	Q352L	possibly damaging	Het
Hdlbp	T	C	1: 93,345,096 (GRCm39)	D803G	probably benign	Het
Hps1	A	G	19: 42,748,143 (GRCm39)		probably null	Het
Ilvbl	G	A	10: 78,415,565 (GRCm39)	R327H	probably benign	Het
Itpr3	A	G	17: 27,333,121 (GRCm39)	D1911G	possibly damaging	Het
Lmo7	T	A	14: 102,166,700 (GRCm39)		probably benign	Het
Mcm10	G	A	2: 5,003,591 (GRCm39)	T542I	possibly damaging	Het
Med1	A	G	11: 98,051,772 (GRCm39)	V497A	probably damaging	Het
Mn1	G	A	5: 111,602,646 (GRCm39)	A1295T	probably damaging	Het
Myh7b	A	C	2: 155,473,707 (GRCm39)	D1580A	probably damaging	Het
Naa20	A	G	2: 145,754,438 (GRCm39)	I101V	probably benign	Het
Nav3	T	C	10: 109,702,846 (GRCm39)	Y229C	probably damaging	Het
Obscn	T	C	11: 58,891,575 (GRCm39)	R6986G	unknown	Het
Or51h7	G	A	7: 102,591,547 (GRCm39)	T79I	probably damaging	Het
Or8b4	A	G	9: 37,830,570 (GRCm39)	I211V	probably benign	Het
P2rx3	A	G	2: 84,853,825 (GRCm39)		probably null	Het
Pcdhac2	G	A	18: 37,279,539 (GRCm39)	G840R	possibly damaging	Het
Pclo	A	G	5: 14,762,489 (GRCm39)	N3654S	unknown	Het
Pcnx2	T	A	8: 126,604,188 (GRCm39)	E689D	possibly damaging	Het
Pds5a	A	G	5: 65,804,464 (GRCm39)	S532P	probably benign	Het
Phf1	G	A	17: 27,154,372 (GRCm39)		probably null	Het
Pkp4	G	A	2: 59,045,147 (GRCm39)	V41M	probably damaging	Het
Prlr	T	G	15: 10,328,364 (GRCm39)		probably null	Het
Prtg	A	G	9: 72,717,039 (GRCm39)	T127A	probably benign	Het
Ptprh	A	G	7: 4,552,698 (GRCm39)	L884P	probably damaging	Het
Rnf170	T	A	8: 26,629,076 (GRCm39)	D183E	probably benign	Het
Rrp12	A	T	19: 41,875,242 (GRCm39)	H339Q	probably damaging	Het
Rubcnl	T	G	14: 75,278,267 (GRCm39)	S350R	possibly damaging	Het
Sgo2b	T	A	8: 64,379,536 (GRCm39)	T1099S	possibly damaging	Het
Ska2	T	C	11: 87,006,945 (GRCm39)	S17P	probably damaging	Het
Slc38a2	A	G	15: 96,591,034 (GRCm39)	I243T	possibly damaging	Het
Sptan1	T	A	2: 29,916,034 (GRCm39)	D2007E	possibly damaging	Het
Taar5	T	A	10: 23,846,620 (GRCm39)	L6H	probably benign	Het
Tbata	G	T	10: 61,019,270 (GRCm39)		probably null	Het
Tent2	C	T	13: 93,312,076 (GRCm39)	G208D	probably damaging	Het
Tmem107	T	C	11: 68,963,284 (GRCm39)	S98P	probably damaging	Het
Tpst2	A	G	5: 112,456,286 (GRCm39)	D275G	possibly damaging	Het
Ttc28	G	T	5: 111,433,184 (GRCm39)	G2073W	probably damaging	Het
Ttc7	T	C	17: 87,629,891 (GRCm39)	V291A	possibly damaging	Het
Vps13b	T	A	15: 35,792,327 (GRCm39)	N2198K	possibly damaging	Het
Wdr37	A	T	13: 8,887,039 (GRCm39)	D249E	probably benign	Het
Xirp2	G	T	2: 67,340,357 (GRCm39)	C866F	probably damaging	Het
Zfp990	A	G	4: 145,263,566 (GRCm39)	E188G	possibly damaging	Het
Zkscan2	A	G	7: 123,099,064 (GRCm39)	S43P	possibly damaging	Het
Zscan5b	A	G	7: 6,236,850 (GRCm39)	R200G	probably benign	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
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
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'- ACTGCTGGACAACCTCTTCCTGAC -3'
(R):5'- GGCCTCCATGATGCAAAGATCTGAC -3'

Sequencing Primer
(F):5'- TGACCCAGGTCCTCTGC -3'
(R):5'- CATGATGCAAAGATCTGACTGCTG -3'

Posted On

2014-04-13