Mutagenetix > Incidental Mutation

Incidental Mutation 'R0556:Prr12'

45565

Institutional Source

Beutler Lab

Gene Symbol

Prr12

Ensembl Gene

ENSMUSG00000046574

Gene Name

proline rich 12

Synonyms

MMRRC Submission

038748-MU

Accession Numbers

Essential gene?

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

Stock #

R0556 (G1)

Quality Score

207

Status

Validated

Chromosome

Chromosomal Location

44676987-44702305 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 44680093 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 1887 (L1887P)

Ref Sequence

ENSEMBL: ENSMUSP00000054702 (fasta)

Gene Model

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

AlphaFold

E9PYL2

Predicted Effect

unknown
Transcript: ENSMUST00000057293
AA Change: L1887P

SMART Domains

Protein: ENSMUSP00000054702
Gene: ENSMUSG00000046574
AA Change: L1887P

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

Meta Mutation Damage Score

0.4875

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 96.9%
20x: 94.7%

Validation Efficiency

98% (64/65)

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: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1600012H06Rik	T	A	17: 15,164,213 (GRCm39)	Y113*	probably null	Het
4930402F06Rik	T	C	2: 35,280,482 (GRCm39)		probably benign	Het
Acad11	A	G	9: 103,992,501 (GRCm39)	E481G	probably damaging	Het
Aldh1a1	A	T	19: 20,611,842 (GRCm39)	N389Y	probably damaging	Het
Bmpr2	C	T	1: 59,854,487 (GRCm39)	T112M	probably damaging	Het
Bms1	A	G	6: 118,390,140 (GRCm39)	Y227H	probably damaging	Het
Cab39	A	G	1: 85,763,212 (GRCm39)		probably benign	Het
Ccn3	A	T	15: 54,612,563 (GRCm39)	T191S	probably damaging	Het
Ccno	T	C	13: 113,124,820 (GRCm39)		probably null	Het
Cct6b	A	G	11: 82,610,270 (GRCm39)		probably benign	Het
Cd101	A	C	3: 100,927,970 (GRCm39)	I37S	probably damaging	Het
Ces1a	T	C	8: 93,771,740 (GRCm39)	H19R	probably benign	Het
Clec16a	A	G	16: 10,456,649 (GRCm39)		probably null	Het
Cntnap1	T	C	11: 101,074,822 (GRCm39)	F831S	probably benign	Het
Col24a1	A	G	3: 145,020,489 (GRCm39)	T287A	possibly damaging	Het
Colgalt2	C	T	1: 152,347,564 (GRCm39)		probably benign	Het
Cpd	A	G	11: 76,693,171 (GRCm39)		probably benign	Het
Cyp3a16	C	A	5: 145,392,790 (GRCm39)	M145I	probably benign	Het
Ddx54	T	A	5: 120,757,719 (GRCm39)		probably benign	Het
Dock7	A	T	4: 98,833,426 (GRCm39)	L1925Q	probably damaging	Het
Eif4g1	A	T	16: 20,494,544 (GRCm39)	Y127F	probably damaging	Het
Erap1	T	A	13: 74,808,444 (GRCm39)	V52E	probably damaging	Het
Fbxo6	G	T	4: 148,230,632 (GRCm39)	T210N	probably damaging	Het
Fcgbpl1	C	T	7: 27,858,803 (GRCm39)	H2308Y	probably benign	Het
Garre1	T	C	7: 33,939,222 (GRCm39)	T222A	probably damaging	Het
Gnat3	T	G	5: 18,224,596 (GRCm39)	V332G	probably damaging	Het
Ift22	T	A	5: 136,940,145 (GRCm39)		probably null	Het
Igkv4-71	A	G	6: 69,220,171 (GRCm39)	C109R	probably damaging	Het
Igsf10	A	G	3: 59,236,296 (GRCm39)	L1295P	probably benign	Het
Itga4	T	C	2: 79,155,983 (GRCm39)	I983T	probably benign	Het
Lhcgr	A	T	17: 89,079,491 (GRCm39)	V65D	probably damaging	Het
Mau2	G	C	8: 70,495,082 (GRCm39)	T85R	probably damaging	Het
Morc2a	T	C	11: 3,631,809 (GRCm39)		probably null	Het
Morc2b	A	T	17: 33,356,812 (GRCm39)	M320K	probably benign	Het
Ms4a18	C	A	19: 10,991,065 (GRCm39)	V10F	probably damaging	Het
Mstn	A	T	1: 53,103,284 (GRCm39)	I207F	probably benign	Het
Mtor	A	G	4: 148,553,837 (GRCm39)	E812G	possibly damaging	Het
Myo1h	A	G	5: 114,457,852 (GRCm39)	Y121C	probably damaging	Het
Or11g27	T	C	14: 50,771,381 (GRCm39)	S171P	probably benign	Het
Or4a66	A	C	2: 88,531,115 (GRCm39)	V186G	possibly damaging	Het
Or8b53	A	T	9: 38,667,041 (GRCm39)	D19V	possibly damaging	Het
Plcd3	G	A	11: 102,968,632 (GRCm39)	T353M	probably damaging	Het
Pnpla7	T	A	2: 24,942,313 (GRCm39)		probably null	Het
Ppp1r12b	T	A	1: 134,705,060 (GRCm39)	Y876F	probably damaging	Het
Prelid2	T	A	18: 42,084,245 (GRCm39)		probably benign	Het
Prickle1	A	G	15: 93,398,662 (GRCm39)	L722P	probably benign	Het
Ptk2b	A	G	14: 66,409,593 (GRCm39)	L481P	probably damaging	Het
Rgl3	T	A	9: 21,887,140 (GRCm39)	K531*	probably null	Het
Sacs	A	G	14: 61,421,407 (GRCm39)	I115V	probably damaging	Het
Septin3	G	T	15: 82,167,966 (GRCm39)		probably benign	Het
Simc1	T	C	13: 54,673,160 (GRCm39)	S503P	probably benign	Het
Stard9	T	C	2: 120,529,404 (GRCm39)	V1887A	probably benign	Het
Synj2	T	A	17: 6,088,230 (GRCm39)	L1427*	probably null	Het
Taar2	A	G	10: 23,816,793 (GRCm39)	D111G	probably damaging	Het
Tlr5	A	G	1: 182,801,716 (GRCm39)	N340S	probably damaging	Het
Tmco2	A	G	4: 120,966,314 (GRCm39)	L14P	probably damaging	Het
Tnik	A	T	3: 28,679,367 (GRCm39)	D746V	possibly damaging	Het
Trip11	C	A	12: 101,850,777 (GRCm39)	E811*	probably null	Het
Ttll9	T	C	2: 152,815,526 (GRCm39)		probably null	Het
Uchl1	A	G	5: 66,839,824 (GRCm39)	E122G	probably benign	Het
Vwa3b	C	A	1: 37,203,566 (GRCm39)		probably benign	Het
Zan	T	C	5: 137,452,482 (GRCm39)	N1533S	unknown	Het
Zfp687	G	T	3: 94,917,719 (GRCm39)	D684E	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
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
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'- AGCTTAGCCCTCATCATCTCCAGAC -3'
(R):5'- CTGCCTTCCTGAAGCTGAGGATTG -3'

Sequencing Primer
(F):5'- GACAGTAATGACCTTGCAGTAATCC -3'
(R):5'- TCTAAGGATGGTCACTGGCAC -3'

Posted On

2013-06-11