Mutagenetix > Incidental Mutation

Incidental Mutation 'R4667:Prrx1'

500755

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

042012-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R4667 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

163245119-163313710 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 163254047 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 201 (S201P)

Ref Sequence

ENSEMBL: ENSMUSP00000075203 (fasta)

Gene Model

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

AlphaFold

P63013

Predicted Effect

probably benign
Transcript: ENSMUST00000027878

SMART Domains

Protein: ENSMUSP00000027878
Gene: ENSMUSG00000026586

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

Predicted Effect

probably benign
Transcript: ENSMUST00000075805
AA Change: S201P

PolyPhen 2 Score 0.184 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000075203
Gene: ENSMUSG00000026586
AA Change: S201P

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

Predicted Effect

probably benign
Transcript: ENSMUST00000174397

SMART Domains

Protein: ENSMUSP00000134338
Gene: ENSMUSG00000026586

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000183691

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.1%
20x: 95.1%

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: 109 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930539E08Rik	G	T	17: 28,908,313	Q241K	possibly damaging	Het
Acad8	A	G	9: 26,990,627	L147P	probably damaging	Het
Adgra3	T	A	5: 49,978,956	Y729F	possibly damaging	Het
Ago2	A	G	15: 73,146,416	Y58H	probably damaging	Het
Akap13	A	G	7: 75,729,094	T2128A	probably damaging	Het
Akap2	A	T	4: 57,855,655	D328V	possibly damaging	Het
Ankhd1	C	A	18: 36,648,021	P2042Q	possibly damaging	Het
Arhgef15	T	C	11: 68,954,561	K155R	probably benign	Het
Atp10b	T	C	11: 43,247,518	F1209L	probably damaging	Het
B130006D01Rik	A	T	11: 95,726,509		probably benign	Het
Bmpr2	T	C	1: 59,867,716	L656S	probably damaging	Het
Btbd17	A	G	11: 114,793,857	F119L	possibly damaging	Het
Ccdc191	G	T	16: 43,931,283	K267N	probably damaging	Het
Ceacam20	T	C	7: 19,986,027	Y495H	probably damaging	Het
Celf2	T	C	2: 6,721,528	I47V	probably benign	Het
Chd9	T	C	8: 91,033,800	S2058P	possibly damaging	Het
Clcn6	T	C	4: 148,024,167	E135G	possibly damaging	Het
Cntn1	T	A	15: 92,295,079	N687K	probably damaging	Het
Col1a2	A	T	6: 4,512,412	M99L	unknown	Het
Cpeb2	T	C	5: 43,233,892		probably benign	Het
Csn1s2b	A	G	5: 87,822,311	T134A	possibly damaging	Het
Cst13	A	T	2: 148,823,081		probably benign	Het
Cyp2c66	T	A	19: 39,176,656	D360E	probably damaging	Het
Dhx8	A	G	11: 101,738,161	S179G	unknown	Het
Dip2b	A	G	15: 100,151,360	I212V	probably benign	Het
Dnah9	G	A	11: 66,155,531	H64Y	probably benign	Het
Dnal1	T	C	12: 84,136,700		probably benign	Het
Dse	T	G	10: 34,153,012	Y694S	probably damaging	Het
Dync2h1	T	C	9: 7,051,411	I3175V	probably benign	Het
Elf5	A	G	2: 103,449,060	N209D	probably damaging	Het
Elovl1	A	G	4: 118,430,787	Y40C	probably damaging	Het
Erp27	T	C	6: 136,908,152	E216G	possibly damaging	Het
F5	G	A	1: 164,174,186	V153I	probably benign	Het
Fam186a	G	A	15: 99,944,532	T1277I	possibly damaging	Het
Fam90a1a	A	T	8: 21,963,346	H239L	possibly damaging	Het
Fchsd2	G	T	7: 101,250,449	R334L	probably damaging	Het
Fermt3	T	C	19: 7,002,920	Y369C	probably damaging	Het
Fhod3	C	T	18: 25,066,338	P689S	probably benign	Het
Fnbp1l	G	T	3: 122,556,567	Q332K	probably benign	Het
Frem3	T	C	8: 80,663,420	S1767P	probably damaging	Het
Ggt5	T	C	10: 75,603,031	L121P	probably damaging	Het
Gm609	A	G	16: 45,444,163	S11P	probably benign	Het
Gphn	T	C	12: 78,454,817	S119P	probably damaging	Het
Herc2	A	G	7: 56,131,253	D1222G	probably damaging	Het
Hmx3	T	C	7: 131,544,382	I273T	possibly damaging	Het
Hnrnpu	A	G	1: 178,332,181		probably benign	Het
Hspg2	C	T	4: 137,539,645	T1987I	possibly damaging	Het
Ighv1-22	T	A	12: 114,746,451	Q58L	probably damaging	Het
Ighv14-3	T	A	12: 114,060,255	I7F	probably benign	Het
Kcns3	C	A	12: 11,091,783	R305L	probably damaging	Het
Kcnu1	C	T	8: 25,910,921	A699V	possibly damaging	Het
Kif22	A	C	7: 127,033,328	L270W	probably damaging	Het
Lrp2	G	T	2: 69,489,298	H1960Q	probably benign	Het
March7	C	T	2: 60,241,050	Q94*	probably null	Het
Mcoln3	A	T	3: 146,131,204	I264F	probably benign	Het
Mdn1	A	C	4: 32,679,572	T706P	probably damaging	Het
Mfsd2b	A	G	12: 4,867,636	C137R	probably benign	Het
Mmp25	A	G	17: 23,644,607	V83A	probably benign	Het
Mocos	T	C	18: 24,666,434	Y242H	probably benign	Het
Msh6	T	C	17: 87,984,806	S330P	possibly damaging	Het
Mtus2	T	C	5: 148,298,260	S1156P	possibly damaging	Het
Muc5b	G	A	7: 141,842,379	R124H	unknown	Het
Mybbp1a	G	A	11: 72,447,971	E775K	possibly damaging	Het
Myo10	A	G	15: 25,793,153	E1272G	possibly damaging	Het
Nars	A	G	18: 64,505,231	S254P	possibly damaging	Het
Ncapd2	A	G	6: 125,184,518	I211T	possibly damaging	Het
Ncoa7	A	T	10: 30,690,790	W582R	probably damaging	Het
Npr3	T	A	15: 11,905,467	D58V	possibly damaging	Het
Nr3c1	G	T	18: 39,428,727	T430K	probably benign	Het
Odf2l	A	G	3: 145,128,040	T111A	probably benign	Het
Ogdh	G	T	11: 6,340,600	C406F	probably benign	Het
Olfml2a	T	G	2: 38,949,010	S190A	probably damaging	Het
Olfr148	T	C	9: 39,613,738	M57T	probably damaging	Het
Olfr243	A	G	7: 103,716,638	T15A	probably benign	Het
Olfr870	T	C	9: 20,171,098	I158V	probably benign	Het
Olfr965	G	T	9: 39,719,709	V161F	probably benign	Het
Optn	T	C	2: 5,033,139	K415E	probably benign	Het
Perm1	C	A	4: 156,220,206	S803*	probably null	Het
Pex14	T	C	4: 148,984,085	T84A	probably benign	Het
Pih1d2	T	A	9: 50,620,952	Y103*	probably null	Het
Pikfyve	T	A	1: 65,250,273	C1235S	probably damaging	Het
Polr1a	A	G	6: 71,917,821	N171S	probably benign	Het
Psme2b	A	T	11: 48,945,666	N151K	probably benign	Het
Serpinb5	A	T	1: 106,872,295	T72S	probably benign	Het
Sgsm1	A	G	5: 113,260,047		probably null	Het
Sipa1l2	T	C	8: 125,453,470	R1063G	possibly damaging	Het
Slc19a3	T	C	1: 83,022,799	T166A	probably benign	Het
Slc5a4b	T	C	10: 76,075,045	Y319C	possibly damaging	Het
Stard3nl	T	A	13: 19,376,519	N29Y	probably damaging	Het
Sult6b2	G	T	6: 142,801,695	C109*	probably null	Het
Tcf25	A	G	8: 123,397,025	E467G	possibly damaging	Het
Tmem177	A	T	1: 119,910,220	V243D	probably benign	Het
Tmem2	G	A	19: 21,797,351	R119H	probably benign	Het
Tmem2	C	T	19: 21,844,781	A1180V	probably benign	Het
Top2b	T	G	14: 16,409,189	I777M	probably damaging	Het
Tspan11	T	A	6: 127,943,715	C208*	probably null	Het
Ttc1	A	G	11: 43,745,317	V33A	probably benign	Het
Uck1	T	A	2: 32,256,034	H283L	probably damaging	Het
Utrn	A	C	10: 12,698,053	V1091G	probably benign	Het
Vmn1r11	A	T	6: 57,137,498	H49L	probably damaging	Het
Vmn1r160	G	T	7: 22,872,053	S277I	probably benign	Het
Vmn1r18	A	T	6: 57,390,084	S162T	probably benign	Het
Vps37b	A	G	5: 124,010,732	L80P	probably damaging	Het
Wfdc3	T	C	2: 164,743,086	M1V	probably null	Het
Wrn	A	T	8: 33,324,338	N116K	probably benign	Het
Wscd2	G	T	5: 113,577,272	G391V	probably damaging	Het
Zcchc11	G	A	4: 108,495,159	E357K	probably damaging	Het
Zfp286	A	G	11: 62,780,602	V215A	probably benign	Het
Zfp568	A	G	7: 30,023,277	H549R	probably 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
R1784: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
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'- CCACTGCTTACATTTCTAGGATGC -3'
(R):5'- ACAGTGAATGGCTTGGCTCTG -3'

Sequencing Primer
(F):5'- ACATTTCTAGGATGCCTTTCCTCAG -3'
(R):5'- CTGTAGTACTGGTCAGGAGTGCC -3'

Posted On

2017-12-01