Incidental Mutation 'R4768:Prrx1'
ID |
366258 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Prrx1
|
Ensembl Gene |
ENSMUSG00000026586 |
Gene Name |
paired related homeobox 1 |
Synonyms |
mHox, A230024N07Rik, Prx1, Pmx1, MHox1, mHox, K-2 |
MMRRC Submission |
042409-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R4768 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
1 |
Chromosomal Location |
163072688-163141279 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 163085334 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tyrosine to Histidine
at position 199
(Y199H)
|
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: Y199H
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000027878 Gene: ENSMUSG00000026586 AA Change: Y199H
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: Y199H
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000075203 Gene: ENSMUSG00000026586 AA Change: Y199H
Domain | Start | End | E-Value | Type |
HOX
|
94 |
156 |
4.93e-26 |
SMART |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000174397
AA Change: Y199H
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000134338 Gene: ENSMUSG00000026586 AA Change: Y199H
Domain | Start | End | E-Value | Type |
HOX
|
94 |
156 |
4.93e-26 |
SMART |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000183691
|
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.7%
- 20x: 93.7%
|
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: 44 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acadm |
A |
G |
3: 153,628,579 (GRCm39) |
Y419H |
probably benign |
Het |
Adam28 |
A |
G |
14: 68,872,264 (GRCm39) |
V326A |
possibly damaging |
Het |
Amdhd1 |
T |
A |
10: 93,370,346 (GRCm39) |
E164V |
possibly damaging |
Het |
Arhgap5 |
T |
C |
12: 52,604,275 (GRCm39) |
L29S |
probably damaging |
Het |
Asb5 |
G |
A |
8: 55,038,031 (GRCm39) |
D185N |
probably benign |
Het |
Ascc3 |
T |
C |
10: 50,576,595 (GRCm39) |
I850T |
probably damaging |
Het |
Atxn1 |
A |
G |
13: 45,711,024 (GRCm39) |
V636A |
probably damaging |
Het |
Bmp4 |
C |
T |
14: 46,623,381 (GRCm39) |
R55Q |
probably damaging |
Het |
Brd8dc |
T |
C |
18: 34,714,005 (GRCm39) |
R207G |
probably damaging |
Het |
Cmas |
T |
C |
6: 142,710,157 (GRCm39) |
|
probably null |
Het |
Dchs1 |
T |
C |
7: 105,420,827 (GRCm39) |
D531G |
possibly damaging |
Het |
Etv1 |
T |
C |
12: 38,877,792 (GRCm39) |
L44P |
probably damaging |
Het |
Fam13c |
T |
A |
10: 70,387,580 (GRCm39) |
I448N |
probably damaging |
Het |
Fcsk |
T |
C |
8: 111,618,766 (GRCm39) |
T331A |
probably benign |
Het |
Fut8 |
A |
G |
12: 77,412,054 (GRCm39) |
K135E |
probably benign |
Het |
Gabrg1 |
A |
G |
5: 70,911,516 (GRCm39) |
F370S |
probably damaging |
Het |
Ighv1-5 |
A |
T |
12: 114,477,143 (GRCm39) |
M53K |
probably damaging |
Het |
Igkv9-120 |
G |
T |
6: 68,027,351 (GRCm39) |
R88S |
possibly damaging |
Het |
Kansl1l |
A |
G |
1: 66,840,292 (GRCm39) |
V336A |
probably damaging |
Het |
Krt27 |
T |
A |
11: 99,240,351 (GRCm39) |
D189V |
probably damaging |
Het |
Marf1 |
A |
T |
16: 13,949,461 (GRCm39) |
F1033I |
possibly damaging |
Het |
Mdfi |
G |
A |
17: 48,135,475 (GRCm39) |
T85M |
probably damaging |
Het |
Mrgpra3 |
C |
A |
7: 47,239,476 (GRCm39) |
R150L |
possibly damaging |
Het |
Mst1r |
C |
A |
9: 107,788,849 (GRCm39) |
T456K |
probably damaging |
Het |
Myh14 |
A |
T |
7: 44,263,099 (GRCm39) |
M1734K |
probably benign |
Het |
Myo1e |
T |
C |
9: 70,277,751 (GRCm39) |
I816T |
possibly damaging |
Het |
Or7d10 |
A |
C |
9: 19,831,841 (GRCm39) |
N112T |
possibly damaging |
Het |
Or8b12 |
T |
C |
9: 37,658,177 (GRCm39) |
L249P |
probably damaging |
Het |
Or8b55 |
T |
A |
9: 38,727,245 (GRCm39) |
Y149N |
probably damaging |
Het |
Or8k28 |
A |
T |
2: 86,285,994 (GRCm39) |
L207* |
probably null |
Het |
Pde4d |
A |
G |
13: 110,070,408 (GRCm39) |
R6G |
probably damaging |
Het |
Pilrb1 |
G |
A |
5: 137,855,788 (GRCm39) |
|
probably benign |
Het |
Rxfp1 |
T |
C |
3: 79,594,175 (GRCm39) |
D73G |
probably damaging |
Het |
Ryr1 |
G |
T |
7: 28,704,246 (GRCm39) |
|
probably benign |
Het |
Shprh |
A |
G |
10: 11,057,284 (GRCm39) |
E1068G |
probably damaging |
Het |
Slc19a3 |
G |
A |
1: 83,000,834 (GRCm39) |
T61I |
probably damaging |
Het |
Slc9a2 |
G |
A |
1: 40,765,534 (GRCm39) |
R308Q |
probably damaging |
Het |
Suclg2 |
T |
G |
6: 95,543,469 (GRCm39) |
I321L |
probably damaging |
Het |
Top3a |
A |
G |
11: 60,653,316 (GRCm39) |
F53L |
probably damaging |
Het |
Ttn |
C |
T |
2: 76,599,110 (GRCm39) |
|
probably benign |
Het |
Upp2 |
T |
C |
2: 58,667,907 (GRCm39) |
V182A |
probably damaging |
Het |
Vmn2r65 |
A |
G |
7: 84,596,602 (GRCm39) |
L151P |
probably damaging |
Het |
Xylt2 |
T |
C |
11: 94,561,298 (GRCm39) |
D155G |
probably benign |
Het |
Zzz3 |
A |
G |
3: 152,154,420 (GRCm39) |
D557G |
probably damaging |
Het |
|
Other mutations in Prrx1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00588:Prrx1
|
APN |
1 |
163,089,536 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01103:Prrx1
|
APN |
1 |
163,089,531 (GRCm39) |
missense |
probably damaging |
1.00 |
R0309:Prrx1
|
UTSW |
1 |
163,140,128 (GRCm39) |
missense |
possibly damaging |
0.62 |
R0620:Prrx1
|
UTSW |
1 |
163,085,385 (GRCm39) |
missense |
probably damaging |
1.00 |
R0624:Prrx1
|
UTSW |
1 |
163,075,974 (GRCm39) |
unclassified |
probably benign |
|
R1728:Prrx1
|
UTSW |
1 |
163,089,536 (GRCm39) |
missense |
probably damaging |
1.00 |
R1784:Prrx1
|
UTSW |
1 |
163,089,536 (GRCm39) |
missense |
probably damaging |
1.00 |
R2497:Prrx1
|
UTSW |
1 |
163,075,834 (GRCm39) |
missense |
possibly damaging |
0.94 |
R3148:Prrx1
|
UTSW |
1 |
163,085,417 (GRCm39) |
missense |
probably benign |
0.38 |
R3729:Prrx1
|
UTSW |
1 |
163,089,446 (GRCm39) |
missense |
probably damaging |
1.00 |
R4667:Prrx1
|
UTSW |
1 |
163,081,616 (GRCm39) |
missense |
probably benign |
0.18 |
R4730:Prrx1
|
UTSW |
1 |
163,140,182 (GRCm39) |
missense |
probably benign |
|
R5222:Prrx1
|
UTSW |
1 |
163,089,542 (GRCm39) |
missense |
probably damaging |
1.00 |
R5448:Prrx1
|
UTSW |
1 |
163,075,867 (GRCm39) |
missense |
probably damaging |
0.99 |
R7034:Prrx1
|
UTSW |
1 |
163,075,907 (GRCm39) |
missense |
probably benign |
0.37 |
R7036:Prrx1
|
UTSW |
1 |
163,075,907 (GRCm39) |
missense |
probably benign |
0.37 |
R7529:Prrx1
|
UTSW |
1 |
163,081,533 (GRCm39) |
splice site |
probably null |
|
R8020:Prrx1
|
UTSW |
1 |
163,075,831 (GRCm39) |
missense |
probably damaging |
0.97 |
R9413:Prrx1
|
UTSW |
1 |
163,140,182 (GRCm39) |
missense |
probably benign |
|
Z1088:Prrx1
|
UTSW |
1 |
163,089,446 (GRCm39) |
missense |
probably damaging |
1.00 |
Z1177:Prrx1
|
UTSW |
1 |
163,140,034 (GRCm39) |
frame shift |
probably null |
|
|
Predicted Primers |
PCR Primer
(F):5'- TGAGTCCAGAAGGAGACTGC -3'
(R):5'- TCAGAACCGAAGAGCCAAGTTC -3'
Sequencing Primer
(F):5'- CTGGGGCAACTAGAAATCTCCTG -3'
(R):5'- CGAAGAGCCAAGTTCCGCAG -3'
|
Posted On |
2015-12-21 |