Mutagenetix > Incidental Mutation

Incidental Mutation 'R1784:Prrx1'

195994

Institutional Source

Beutler Lab

Gene Symbol

Prrx1

Ensembl Gene

ENSMUSG00000026586

Gene Name

paired related homeobox 1

Synonyms

mHox, mHox, Pmx1, Prx1, A230024N07Rik, K-2

MMRRC Submission

039815-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R1784 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

163245119-163313710 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 163261967 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Isoleucine at position 97 (N97I)

Ref Sequence

ENSEMBL: ENSMUSP00000134338 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000027878] [ENSMUST00000075805] [ENSMUST00000174397]

AlphaFold

P63013

Predicted Effect

probably damaging
Transcript: ENSMUST00000027878
AA Change: N97I

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000027878
Gene: ENSMUSG00000026586
AA Change: N97I

Domain	Start	End	E-Value	Type
HOX	94	156	4.93e-26	SMART
Pfam:OAR	219	236	7.1e-10	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000075805
AA Change: N97I

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000075203
Gene: ENSMUSG00000026586
AA Change: N97I

Domain	Start	End	E-Value	Type
HOX	94	156	4.93e-26	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000174397
AA Change: N97I

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000134338
Gene: ENSMUSG00000026586
AA Change: N97I

Domain	Start	End	E-Value	Type
HOX	94	156	4.93e-26	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000183691

Coding Region Coverage

1x: 97.5%
3x: 97.0%
10x: 95.5%
20x: 93.2%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The DNA-associated protein encoded by this gene is a member of the paired family of homeobox proteins localized to the nucleus. The protein functions as a transcription co-activator, enhancing the DNA-binding activity of serum response factor, a protein required for the induction of genes by growth and differentiation factors. The protein regulates muscle creatine kinase, indicating a role in the establishment of diverse mesodermal muscle types. Alternative splicing yields two isoforms that differ in abundance and expression patterns. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygotes for targeted null mutations exhibit skeletal defects affecting mandible, limbs, and vertebrae, vascular abnormalities, and neonatal lethality. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 193 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930453N24Rik	T	C	16: 64,769,022	I90V	probably damaging	Het
Acacb	TGGGG	TGGG	5: 114,209,767		probably null	Het
Adamts17	C	T	7: 67,149,956	R1060*	probably null	Het
Adamts5	T	A	16: 85,877,915	K454*	probably null	Het
Adgrg6	T	C	10: 14,439,782	T593A	probably damaging	Het
Aldh4a1	A	G	4: 139,644,161	Y462C	probably damaging	Het
Ankrd12	G	T	17: 65,984,076	P1454Q	probably benign	Het
Ap1m1	T	A	8: 72,252,849	S230T	probably benign	Het
Aspm	A	G	1: 139,473,574	I1111V	probably benign	Het
Atp6ap1l	T	A	13: 90,905,281	K4N	probably damaging	Het
Boc	T	C	16: 44,496,419	T454A	probably benign	Het
Bola1	C	T	3: 96,197,110	G56D	probably benign	Het
C4bp	C	G	1: 130,642,988	V284L	probably benign	Het
Cacna1s	T	C	1: 136,118,716	F1761S	probably benign	Het
Camsap2	C	T	1: 136,281,315	R802Q	probably benign	Het
Capn9	G	A	8: 124,605,711	G430R	possibly damaging	Het
Cbs	G	T	17: 31,620,949	A337E	probably benign	Het
Ccdc129	T	C	6: 55,968,541	F749S	probably benign	Het
Ccdc186	A	C	19: 56,809,220	H306Q	probably benign	Het
Cd180	T	C	13: 102,705,859	L471P	probably damaging	Het
Cd55	C	T	1: 130,449,423	V333I	probably benign	Het
Cd55	C	A	1: 130,459,633	A143S	probably benign	Het
Cdk12	T	C	11: 98,249,970		probably benign	Het
Cfh	C	T	1: 140,147,697	V268I	possibly damaging	Het
Cfhr2	A	G	1: 139,813,442	M265T	probably benign	Het
Cfhr2	A	C	1: 139,813,459	N259K	probably benign	Het
Chil1	C	T	1: 134,188,529	A250V	probably damaging	Het
Chit1	A	G	1: 134,149,394	R312G	possibly damaging	Het
Chrna6	A	T	8: 27,406,784	M355K	possibly damaging	Het
Clcn1	T	A	6: 42,299,514	F360Y	possibly damaging	Het
Copa	T	A	1: 172,111,987	F597Y	probably benign	Het
Crb1	T	C	1: 139,234,779	M1214V	probably benign	Het
Crb1	A	T	1: 139,237,622	H921Q	probably benign	Het
Crb1	G	A	1: 139,241,138	P881S	probably damaging	Het
Crb1	C	T	1: 139,242,995	G825R	probably damaging	Het
Crb1	C	T	1: 139,243,417	R684H	probably benign	Het
Crybg1	T	A	10: 44,004,019	Q391L	probably damaging	Het
Cwh43	T	C	5: 73,408,218	L42P	probably damaging	Het
Cxcr4	C	T	1: 128,589,277	V216I	probably benign	Het
Cyb5r1	C	T	1: 134,407,667	R147W	probably damaging	Het
Ddx59	T	C	1: 136,417,053	V154A	probably benign	Het
Dnah17	C	T	11: 118,069,519	C2572Y	possibly damaging	Het
Dnah9	G	A	11: 66,085,020	T1401I	possibly damaging	Het
Dstyk	C	T	1: 132,456,984	L739F	probably damaging	Het
Elf2	A	T	3: 51,257,572	V277D	probably damaging	Het
Etnk2	C	T	1: 133,363,890	P43S	probably benign	Het
Etnk2	C	A	1: 133,365,587	D89E	probably benign	Het
Etnk2	G	T	1: 133,365,765	G149W	probably damaging	Het
Etnk2	C	T	1: 133,365,816	R166*	probably null	Het
Etnk2	G	A	1: 133,365,817	R166Q	probably benign	Het
Etnk2	T	A	1: 133,376,915	V292E	probably benign	Het
Etnk2	G	T	1: 133,377,046	A336S	probably benign	Het
Fam72a	T	C	1: 131,530,668	I56T	probably benign	Het
Fam72a	C	T	1: 131,538,895	T139M	probably benign	Het
Fat3	A	C	9: 15,996,315	V2797G	possibly damaging	Het
Fbxl6	C	T	15: 76,538,058	R137H	probably damaging	Het
Fcamr	A	C	1: 130,804,627	N117T	probably benign	Het
Fcamr	A	G	1: 130,811,580	I206V	probably benign	Het
Fcamr	G	A	1: 130,812,629	G262S	probably benign	Het
Fcamr	A	G	1: 130,812,692	I283V	probably benign	Het
Fcamr	T	C	1: 130,812,738	V298A	probably benign	Het
Fcamr	A	G	1: 130,812,809	M322V	probably benign	Het
Fcamr	C	T	1: 130,812,816	P324L	probably benign	Het
Fcamr	A	G	1: 130,814,597	N574D	probably benign	Het
Fcmr	A	G	1: 130,875,974	T172A	probably benign	Het
Fcmr	T	C	1: 130,878,269	S321P	probably benign	Het
Gabarap	C	T	11: 69,991,689		probably benign	Het
Galnt17	A	T	5: 131,150,963	H115Q	probably benign	Het
Gemin4	G	C	11: 76,211,050	P962A	probably damaging	Het
Glrx2	C	T	1: 143,739,740	A27V	possibly damaging	Het
Gm10563	C	T	4: 155,635,880		probably benign	Het
Gm12887	T	A	4: 121,616,518	D45V	probably benign	Het
Gse1	G	A	8: 120,568,253		probably benign	Het
Guk1	A	T	11: 59,185,312	V100E	probably damaging	Het
Heatr4	T	C	12: 83,967,572	I630M	probably benign	Het
Hectd4	A	T	5: 121,301,839	Y1134F	possibly damaging	Het
Ift20	G	A	11: 78,540,034	E68K	probably damaging	Het
Igfn1	G	A	1: 135,959,928	P2466L	probably damaging	Het
Igfn1	G	A	1: 135,968,199	A1543V	probably benign	Het
Igfn1	T	C	1: 135,970,411	S806G	probably benign	Het
Igfn1	C	T	1: 135,972,127	R482Q	probably benign	Het
Igfn1	C	T	1: 135,979,915	A231T	probably benign	Het
Igfn1	G	A	1: 135,982,475	R124W	probably benign	Het
Igfn1	T	C	1: 135,998,625	E29G	probably benign	Het
Igfn1	T	C	1: 135,998,683	I10V	unknown	Het
Ikbke	C	A	1: 131,265,937	A459S	probably benign	Het
Ikbke	T	C	1: 131,269,823	S447G	probably benign	Het
Ipo9	ATCCTCCTCCTCCTCCTC	ATCCTCCTCCTCCTCCTCCTC	1: 135,386,268		probably benign	Het
Ipo9	A	G	1: 135,402,250	V484A	probably benign	Het
Kcnh5	T	C	12: 75,137,691	D86G	probably benign	Het
Kcnt2	G	A	1: 140,354,547	S90N	probably benign	Het
Kif14	A	G	1: 136,468,279	N108D	probably benign	Het
Kif14	A	G	1: 136,468,975	K340E	probably damaging	Het
Kif14	G	A	1: 136,478,365	A556T	probably benign	Het
Kif14	A	G	1: 136,490,332	S868G	probably benign	Het
Kif14	C	T	1: 136,503,431	L1189F	probably benign	Het
Kif14	T	C	1: 136,515,961	F1291L	probably benign	Het
Kif14	T	C	1: 136,525,783	V1433A	probably benign	Het
Kif18b	A	G	11: 102,915,541		probably null	Het
Kif21b	A	G	1: 136,160,121	I983V	possibly damaging	Het
Kpna3	T	A	14: 61,367,701	E499V	probably benign	Het
Kremen1	GGG	GGGTGG	11: 5,201,792		probably benign	Het
Krt23	A	T	11: 99,492,964	V34D	probably damaging	Het
Lad1	C	T	1: 135,827,381	P132S	possibly damaging	Het
Lad1	C	T	1: 135,828,023	R346C	probably damaging	Het
Lax1	T	C	1: 133,679,978	R342G	probably benign	Het
Lax1	T	C	1: 133,680,569	N145D	probably benign	Het
Lax1	G	A	1: 133,683,634	P67S	probably damaging	Het
Lgr6	C	T	1: 134,987,088	V641I	probably benign	Het
Lgr6	A	T	1: 134,988,009	S334T	probably benign	Het
Lgr6	G	T	1: 134,990,635	H263N	probably benign	Het
Lgr6	C	T	1: 135,003,476	S3N	probably benign	Het
Lima1	G	T	15: 99,780,463	P539Q	possibly damaging	Het
Lmod1	C	T	1: 135,364,073	T222I	probably benign	Het
Megf10	T	C	18: 57,240,792		probably null	Het
Mrgbp	T	A	2: 180,585,449	N192K	probably damaging	Het
Mrgpra2b	A	G	7: 47,464,879	I35T	probably benign	Het
Mroh3	G	C	1: 136,192,144	Q440E	possibly damaging	Het
Mrpl3	C	T	9: 105,057,067	H130Y	probably benign	Het
Mybph	C	T	1: 134,197,480	R249C	probably benign	Het
Mycbp2	A	T	14: 103,155,178	C3206S	probably damaging	Het
Nav1	A	T	1: 135,584,727	D198E	possibly damaging	Het
Nbeal2	T	A	9: 110,630,857	K1844*	probably null	Het
Ndufaf7	A	T	17: 78,937,629	K59M	probably damaging	Het
Nr5a2	C	A	1: 136,952,125	R35L	probably benign	Het
Obsl1	G	A	1: 75,486,756	T1764M	probably benign	Het
Olfr453	C	A	6: 42,744,135	L33M	possibly damaging	Het
Olfr870	A	T	9: 20,170,913	Y219*	probably null	Het
Optc	A	T	1: 133,903,796		probably null	Het
Optc	C	G	1: 133,905,170	S64T	probably benign	Het
Otoa	T	C	7: 121,125,439	V447A	probably benign	Het
Papss1	A	G	3: 131,605,967	N319D	probably benign	Het
Pcdhb3	G	A	18: 37,301,878	G299D	probably damaging	Het
Pcsk4	T	C	10: 80,323,570	D432G	probably damaging	Het
Pde4b	T	C	4: 102,605,260	I711T	probably benign	Het
Pde5a	G	T	3: 122,748,240	L126F	probably damaging	Het
Pigr	C	T	1: 130,844,522	A159V	possibly damaging	Het
Pik3c2b	C	T	1: 133,066,627	P110S	probably benign	Het
Pinx1	A	G	14: 63,878,110		probably null	Het
Plekha6	C	G	1: 133,287,846	T792S	probably benign	Het
Ppfia4	G	A	1: 134,299,321	P1159S	probably benign	Het
Ppil2	C	G	16: 17,089,419		probably benign	Het
Prelp	C	T	1: 133,915,131	R92K	probably benign	Het
Ptpn7	A	G	1: 135,134,475	Q53R	probably benign	Het
Ptprc	T	G	1: 138,099,676	N478T	probably benign	Het
Ptprc	A	G	1: 138,107,823	S405P	probably benign	Het
Ptprc	C	A	1: 138,107,824	E402D	probably benign	Het
Ptprc	A	G	1: 138,107,837	V400A	probably benign	Het
Ptprc	T	C	1: 138,112,254	K212E	possibly damaging	Het
Rab29	A	G	1: 131,872,110	Q141R	probably benign	Het
Rbsn	A	T	6: 92,190,019	L548Q	possibly damaging	Het
Ren1	C	G	1: 133,350,778		probably null	Het
Ren1	T	A	1: 133,354,206	W22R	probably damaging	Het
Ren1	C	T	1: 133,354,237	T32I	probably benign	Het
Ren1	A	C	1: 133,356,457	K187Q	probably benign	Het
Ren1	A	T	1: 133,359,079	E315D	probably benign	Het
Ren1	A	T	1: 133,359,983	N352Y	probably benign	Het
Ren1	C	G	1: 133,360,007	L360V	probably benign	Het
Rgs22	T	A	15: 36,087,436	K445N	probably damaging	Het
Rint1	T	A	5: 23,809,843	D352E	probably benign	Het
Rnpep	C	T	1: 135,263,096	A571T	possibly damaging	Het
Sept4	A	T	11: 87,583,436	Q60L	probably benign	Het
Sis	A	T	3: 72,965,645	C53*	probably null	Het
Slain2	A	G	5: 72,957,614	H396R	probably damaging	Het
Slc22a5	G	A	11: 53,866,351	P491L	probably damaging	Het
Slc26a9	C	T	1: 131,763,870	A617V	probably benign	Het
Slc26a9	C	A	1: 131,766,012	R747S	probably benign	Het
Stab2	T	G	10: 86,938,039	R809S	probably benign	Het
Tbc1d19	T	G	5: 53,829,372	I41S	probably damaging	Het
Tbc1d31	T	A	15: 57,963,920	H919Q	possibly damaging	Het
Thsd7b	C	T	1: 129,628,891	T328I	probably damaging	Het
Thsd7b	T	A	1: 129,667,937	F498Y	probably benign	Het
Thsd7b	G	C	1: 129,678,183	A554P	probably benign	Het
Thsd7b	A	C	1: 130,116,631	Q1116P	probably benign	Het
Tnfrsf25	T	A	4: 152,118,304		probably null	Het
Tnnt2	C	T	1: 135,845,506		probably benign	Het
Traf7	A	G	17: 24,512,379	F228L	probably damaging	Het
Trim32	T	A	4: 65,614,397	I397N	probably damaging	Het
Trove2	C	T	1: 143,760,014	V465I	probably benign	Het
Trove2	T	C	1: 143,760,034	D458G	probably benign	Het
Tubgcp2	T	C	7: 139,998,055	T779A	probably benign	Het
Ube2t	C	T	1: 134,972,167	A149V	probably benign	Het
Upf2	A	T	2: 6,027,450	S191C	probably damaging	Het
Usp42	T	C	5: 143,714,626	D1214G	probably damaging	Het
Vcam1	T	A	3: 116,114,515	I633L	probably benign	Het
Vmn2r73	T	C	7: 85,857,878	Y742C	probably damaging	Het
Vmn2r81	C	A	10: 79,270,655	T489K	probably benign	Het
Zc3h11a	G	A	1: 133,622,154	P695S	probably benign	Het
Zc3h11a	C	T	1: 133,624,621	V583I	probably benign	Het
Zfp169	C	T	13: 48,489,819	A611T	possibly damaging	Het
Zfp281	GCGGCAGCTCCGGCAGC	GCGGCAGCTCCGGCAGCTCCGGCAGC	1: 136,625,353		probably benign	Het
Zp3r	A	G	1: 130,596,814	L164P	probably benign	Het
Zp3r	C	A	1: 130,619,414	E8D	possibly damaging	Het

Other mutations in Prrx1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00588:Prrx1	APN	1	163261967	missense	probably damaging	1.00
IGL01103:Prrx1	APN	1	163261962	missense	probably damaging	1.00
R0309:Prrx1	UTSW	1	163312559	missense	possibly damaging	0.62
R0620:Prrx1	UTSW	1	163257816	missense	probably damaging	1.00
R0624:Prrx1	UTSW	1	163248405	unclassified	probably benign
R1728:Prrx1	UTSW	1	163261967	missense	probably damaging	1.00
R2497:Prrx1	UTSW	1	163248265	missense	possibly damaging	0.94
R3148:Prrx1	UTSW	1	163257848	missense	probably benign	0.38
R3729:Prrx1	UTSW	1	163261877	missense	probably damaging	1.00
R4667:Prrx1	UTSW	1	163254047	missense	probably benign	0.18
R4730:Prrx1	UTSW	1	163312613	missense	probably benign
R4768:Prrx1	UTSW	1	163257765	missense	probably damaging	1.00
R5222:Prrx1	UTSW	1	163261973	missense	probably damaging	1.00
R5448:Prrx1	UTSW	1	163248298	missense	probably damaging	0.99
R7034:Prrx1	UTSW	1	163248338	missense	probably benign	0.37
R7036:Prrx1	UTSW	1	163248338	missense	probably benign	0.37
R7529:Prrx1	UTSW	1	163253964	splice site	probably null
R8020:Prrx1	UTSW	1	163248262	missense	probably damaging	0.97
R9413:Prrx1	UTSW	1	163312613	missense	probably benign
Z1088:Prrx1	UTSW	1	163261877	missense	probably damaging	1.00
Z1177:Prrx1	UTSW	1	163312465	frame shift	probably null

Predicted Primers

PCR Primer
(F):5'- CTGCCACTCAAAGCCTGAGTTACC -3'
(R):5'- ACCGAACAGACTTCAATGAGCTGC -3'

Sequencing Primer
(F):5'- AAGCCTGAGTTACCTGCAC -3'
(R):5'- CAATGAGCTGCAAGTTGCATTC -3'

Posted On

2014-05-23