Incidental Mutation 'R5448:Prrx1'
| ID |
429164 |
| 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 |
043013-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R5448 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
1 |
| Chromosomal Location |
163072688-163141279 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 163075867 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 233
(E233G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000027878
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000027878]
[ENSMUST00000075805]
[ENSMUST00000174397]
|
| AlphaFold |
P63013 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000027878
AA Change: E233G
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000027878
Gene: ENSMUSG00000026586
AA Change: E233G
| 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
|
| SMART Domains |
Protein: ENSMUSP00000075203
Gene: ENSMUSG00000026586
| 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: 98.6%
- 10x: 97.2%
- 20x: 95.2%
|
| 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: 35 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930505A04Rik |
C |
T |
11: 30,376,349 (GRCm39) |
V173M |
probably damaging |
Het |
| Actn3 |
T |
C |
19: 4,913,239 (GRCm39) |
D699G |
possibly damaging |
Het |
| C1galt1 |
C |
T |
6: 7,866,658 (GRCm39) |
A168V |
possibly damaging |
Het |
| Ccdc180 |
A |
T |
4: 45,920,913 (GRCm39) |
E953V |
probably damaging |
Het |
| Ccdc88b |
T |
A |
19: 6,831,948 (GRCm39) |
D411V |
probably damaging |
Het |
| Cdadc1 |
T |
A |
14: 59,811,275 (GRCm39) |
I412L |
possibly damaging |
Het |
| Clip2 |
T |
C |
5: 134,542,902 (GRCm39) |
N424D |
probably benign |
Het |
| Dnase1l1 |
C |
T |
X: 73,320,644 (GRCm39) |
|
probably null |
Het |
| Fbxo38 |
A |
T |
18: 62,655,528 (GRCm39) |
I386N |
possibly damaging |
Het |
| Gm9887 |
C |
A |
12: 69,418,865 (GRCm39) |
|
probably benign |
Het |
| Itgae |
T |
C |
11: 73,024,734 (GRCm39) |
|
probably null |
Het |
| Klhl2 |
C |
A |
8: 65,275,642 (GRCm39) |
|
probably null |
Het |
| Krt1 |
T |
A |
15: 101,757,464 (GRCm39) |
K249* |
probably null |
Het |
| L3mbtl2 |
T |
C |
15: 81,568,534 (GRCm39) |
Y513H |
possibly damaging |
Het |
| Maml2 |
A |
C |
9: 13,617,763 (GRCm39) |
S370R |
probably damaging |
Het |
| Or1e35 |
T |
C |
11: 73,797,437 (GRCm39) |
N294D |
probably damaging |
Het |
| Or4c112 |
T |
G |
2: 88,853,845 (GRCm39) |
L167F |
probably benign |
Het |
| Pcnx2 |
T |
C |
8: 126,614,888 (GRCm39) |
T188A |
probably benign |
Het |
| Pde6c |
A |
G |
19: 38,121,623 (GRCm39) |
E77G |
probably damaging |
Het |
| Pgr |
A |
G |
9: 8,922,638 (GRCm39) |
I603V |
probably benign |
Het |
| Plce1 |
T |
C |
19: 38,768,361 (GRCm39) |
V2212A |
probably damaging |
Het |
| Ppl |
C |
T |
16: 4,925,430 (GRCm39) |
A70T |
probably benign |
Het |
| Prpf40a |
G |
T |
2: 53,046,938 (GRCm39) |
T266N |
possibly damaging |
Het |
| Rdh16f2 |
C |
T |
10: 127,712,932 (GRCm39) |
T310I |
probably benign |
Het |
| Rfx6 |
T |
C |
10: 51,559,733 (GRCm39) |
S187P |
probably damaging |
Het |
| Scn10a |
A |
T |
9: 119,517,013 (GRCm39) |
F135I |
probably benign |
Het |
| Shld2 |
G |
A |
14: 33,990,327 (GRCm39) |
T193I |
probably benign |
Het |
| Slc24a1 |
A |
G |
9: 64,855,609 (GRCm39) |
F433L |
probably benign |
Het |
| Slfn3 |
T |
A |
11: 83,105,431 (GRCm39) |
L476Q |
probably damaging |
Het |
| Tmem8b |
G |
A |
4: 43,673,992 (GRCm39) |
V208I |
probably benign |
Het |
| Trappc1 |
T |
C |
11: 69,216,361 (GRCm39) |
S136P |
probably benign |
Het |
| Tshz3 |
A |
G |
7: 36,470,654 (GRCm39) |
E881G |
possibly damaging |
Het |
| Ubash3b |
A |
G |
9: 40,948,731 (GRCm39) |
|
probably null |
Het |
| Wdtc1 |
G |
A |
4: 133,021,608 (GRCm39) |
A642V |
probably benign |
Het |
| Zdhhc22 |
T |
C |
12: 87,035,341 (GRCm39) |
D37G |
possibly 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 |
|
|
R4768:Prrx1
|
UTSW |
1 |
163,085,334 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5222:Prrx1
|
UTSW |
1 |
163,089,542 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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'- TGGTCCCAATATTTTAGTTCTGGC -3'
(R):5'- AGCTGTAAGAGACCCCGAAG -3'
Sequencing Primer
(F):5'- AGTTCTGGCTTTGTTTGTTTGC -3'
(R):5'- TCCTGAGAGTATATCCATCCAGGG -3'
|
| Posted On |
2016-09-06 |
Incidental Mutation