Mutagenetix > Incidental Mutation

Incidental Mutation 'R7147:Prr12'

553872

Institutional Source

Beutler Lab

Gene Symbol

Prr12

Ensembl Gene

ENSMUSG00000046574

Gene Name

proline rich 12

Synonyms

MMRRC Submission

045224-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.547) question?

Stock #

R7147 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

44676987-44702305 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 44683274 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Glycine at position 1797 (R1797G)

Ref Sequence

ENSEMBL: ENSMUSP00000054702 (fasta)

Gene Model

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

AlphaFold

E9PYL2

Predicted Effect

unknown
Transcript: ENSMUST00000057293
AA Change: R1797G

SMART Domains

Protein: ENSMUSP00000054702
Gene: ENSMUSG00000046574
AA Change: R1797G

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: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.9%

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
Adcy4	C	T	14: 56,017,182 (GRCm39)	G303D	probably damaging	Het
Adgra3	C	T	5: 50,118,587 (GRCm39)	G987D	probably damaging	Het
Akap11	A	G	14: 78,748,905 (GRCm39)	S1161P		Het
Ampd3	G	A	7: 110,404,059 (GRCm39)	E528K	probably damaging	Het
Arl8b	G	A	6: 108,791,976 (GRCm39)	R79Q	probably damaging	Het
Atf4	AAGCGGGCTGAGC	AAGC	15: 80,141,500 (GRCm39)		probably benign	Het
Cald1	A	T	6: 34,723,231 (GRCm39)	Q105L		Het
Casd1	T	C	6: 4,624,187 (GRCm39)	Y327H	probably benign	Het
Chodl	T	A	16: 78,743,629 (GRCm39)	C239S	probably damaging	Het
D130043K22Rik	A	T	13: 25,066,546 (GRCm39)	H781L	probably benign	Het
Dlg1	A	T	16: 31,610,672 (GRCm39)	M318L	probably benign	Het
Dlgap1	T	C	17: 70,969,753 (GRCm39)	S520P	probably benign	Het
Dmxl2	T	C	9: 54,324,013 (GRCm39)	I950V	probably benign	Het
Dnah17	T	A	11: 117,985,755 (GRCm39)	T1441S	probably benign	Het
Dock7	A	T	4: 98,849,654 (GRCm39)	N1638K	unknown	Het
Ect2	A	T	3: 27,204,239 (GRCm39)	D23E	probably benign	Het
Ephx1	T	A	1: 180,829,384 (GRCm39)	T55S	probably damaging	Het
F11	T	C	8: 45,703,183 (GRCm39)	Y169C	probably damaging	Het
Fbxw27	A	G	9: 109,618,391 (GRCm39)		probably null	Het
Fhl5	T	A	4: 25,213,777 (GRCm39)		probably null	Het
Gm5145	G	A	17: 20,791,323 (GRCm39)	E234K	probably damaging	Het
Gpr39	G	A	1: 125,800,238 (GRCm39)	D330N	possibly damaging	Het
Greb1	C	T	12: 16,783,428 (GRCm39)	R102H	probably damaging	Het
H4c17	A	G	13: 21,996,159 (GRCm39)	D69G	probably damaging	Het
Ighmbp2	T	C	19: 3,321,676 (GRCm39)	K361R	probably benign	Het
Inpp4b	A	G	8: 82,629,400 (GRCm39)	D245G	probably damaging	Het
Ints14	T	C	9: 64,891,267 (GRCm39)	V416A	possibly damaging	Het
Kif21a	A	G	15: 90,865,086 (GRCm39)	S529P	probably benign	Het
Limk1	A	G	5: 134,686,195 (GRCm39)	M609T	probably benign	Het
Lrrc75a	G	A	11: 62,496,795 (GRCm39)	P256S	probably damaging	Het
Mcc	T	C	18: 44,626,580 (GRCm39)	R339G	probably damaging	Het
Mdga1	C	T	17: 30,065,495 (GRCm39)	W371*	probably null	Het
Mei4	T	A	9: 81,809,649 (GRCm39)	L244Q	probably damaging	Het
Mical2	C	T	7: 111,922,810 (GRCm39)	P605L	possibly damaging	Het
Mrgprf	G	T	7: 144,862,128 (GRCm39)	R230L	possibly damaging	Het
Nlgn1	T	A	3: 26,187,509 (GRCm39)	R125S	probably benign	Het
Or52h7	A	G	7: 104,213,273 (GRCm39)		probably benign	Het
Papola	A	T	12: 105,774,897 (GRCm39)		probably benign	Het
Pold2	T	C	11: 5,823,095 (GRCm39)	D360G	probably benign	Het
Psmg2	C	T	18: 67,786,338 (GRCm39)	P233S	probably benign	Het
Ptprh	A	G	7: 4,553,781 (GRCm39)	W857R	probably damaging	Het
Raet1e	A	T	10: 22,057,179 (GRCm39)	M168L	probably benign	Het
Rhbdl2	A	T	4: 123,703,908 (GRCm39)	Y61F	probably damaging	Het
Sacm1l	A	G	9: 123,398,016 (GRCm39)	N236S	probably damaging	Het
Sbf2	A	T	7: 110,046,268 (GRCm39)	S310T	probably benign	Het
Sdr42e2	A	T	7: 120,412,238 (GRCm39)	R33S	probably damaging	Het
Sh3d19	T	A	3: 86,011,584 (GRCm39)	I390N	possibly damaging	Het
Slco3a1	A	G	7: 74,154,042 (GRCm39)	Y177H	probably damaging	Het
Smo	G	A	6: 29,758,448 (GRCm39)	G531D	possibly damaging	Het
Snx25	A	C	8: 46,558,233 (GRCm39)	V258G	probably damaging	Het
Spata31d1b	T	A	13: 59,866,028 (GRCm39)	S1059T	probably benign	Het
Srgap2	C	T	1: 131,238,332 (GRCm39)	C274Y		Het
Srrm1	A	G	4: 135,074,137 (GRCm39)	I48T	probably damaging	Het
Syne1	A	T	10: 5,199,340 (GRCm39)	V3719E	probably damaging	Het
Tcerg1	T	A	18: 42,683,128 (GRCm39)	M616K	probably benign	Het
Tgtp2	G	C	11: 48,950,135 (GRCm39)	R146G	probably damaging	Het
Tie1	A	T	4: 118,341,610 (GRCm39)	V234D	probably damaging	Het
Tom1	A	G	8: 75,783,895 (GRCm39)	N293S	probably damaging	Het
Trim13	A	T	14: 61,842,080 (GRCm39)	K32N	probably damaging	Het
Trim6	G	A	7: 103,874,777 (GRCm39)	V5I	probably benign	Het
Vps11	A	T	9: 44,266,379 (GRCm39)	L436*	probably null	Het
Vps50	C	T	6: 3,567,750 (GRCm39)	Q549*	probably null	Het
Vtcn1	T	A	3: 100,791,210 (GRCm39)	F83I	probably damaging	Het
Zfp131	T	C	13: 120,228,079 (GRCm39)	T523A	probably benign	Het
Zfp758	A	T	17: 22,594,981 (GRCm39)	Y489F	possibly damaging	Het
Zfp804a	T	C	2: 82,088,531 (GRCm39)	Y787H	probably benign	Het
Zfp9	C	T	6: 118,441,963 (GRCm39)	C233Y	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
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
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'- AGTCCTCAGGCTGACATCAC -3'
(R):5'- AAGATGACATCGGAGAAGCCTC -3'

Sequencing Primer
(F):5'- AGTACACTGTAGCTGTCTTCAGAC -3'
(R):5'- GAGAAGCCTCCAGAGCCAG -3'

Posted On

2019-05-15