Incidental Mutation 'R3148:Prrx1'
| ID |
264312 |
| 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 |
040600-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R3148 (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 163085417 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 171
(D171G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000075203
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000027878]
[ENSMUST00000075805]
[ENSMUST00000174397]
|
| AlphaFold |
P63013 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000027878
AA Change: D171G
PolyPhen 2
Score 0.383 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000027878
Gene: ENSMUSG00000026586
AA Change: D171G
| 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: D171G
PolyPhen 2
Score 0.383 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000075203
Gene: ENSMUSG00000026586
AA Change: D171G
| Domain | Start | End | E-Value | Type |
|---|
|
HOX
|
94 |
156 |
4.93e-26 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000174397
AA Change: D171G
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000134338
Gene: ENSMUSG00000026586
AA Change: D171G
| 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: 98.7%
- 10x: 97.6%
- 20x: 95.9%
|
| 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: 26 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4933436I01Rik |
T |
C |
X: 66,964,984 (GRCm39) |
D12G |
probably benign |
Het |
| Adamts18 |
C |
A |
8: 114,465,490 (GRCm39) |
V701L |
probably damaging |
Het |
| Alg2 |
A |
T |
4: 47,472,259 (GRCm39) |
V183D |
probably damaging |
Het |
| Ank2 |
T |
C |
3: 126,726,724 (GRCm39) |
I857V |
probably benign |
Het |
| Asb15 |
G |
T |
6: 24,566,258 (GRCm39) |
A404S |
probably damaging |
Het |
| Baalc |
A |
T |
15: 38,812,568 (GRCm39) |
E106V |
possibly damaging |
Het |
| Catsperd |
G |
T |
17: 56,971,039 (GRCm39) |
C701F |
possibly damaging |
Het |
| Cc2d2a |
T |
A |
5: 43,866,497 (GRCm39) |
I769N |
probably damaging |
Het |
| Cntnap4 |
A |
G |
8: 113,484,071 (GRCm39) |
T375A |
probably damaging |
Het |
| Col7a1 |
A |
G |
9: 108,790,473 (GRCm39) |
T974A |
unknown |
Het |
| Ehbp1 |
T |
C |
11: 22,050,465 (GRCm39) |
Y502C |
probably damaging |
Het |
| Kcnj11 |
C |
T |
7: 45,748,544 (GRCm39) |
V260I |
probably benign |
Het |
| Klk14 |
G |
A |
7: 43,341,501 (GRCm39) |
C51Y |
probably damaging |
Het |
| Marf1 |
A |
G |
16: 13,943,843 (GRCm39) |
V1380A |
possibly damaging |
Het |
| Or4k36 |
T |
C |
2: 111,146,633 (GRCm39) |
F270L |
possibly damaging |
Het |
| Otog |
T |
C |
7: 45,939,593 (GRCm39) |
L2124P |
probably damaging |
Het |
| Pam |
T |
A |
1: 97,823,403 (GRCm39) |
N256I |
possibly damaging |
Het |
| Pcbp1 |
C |
T |
6: 86,502,471 (GRCm39) |
E143K |
probably damaging |
Het |
| Pramel21 |
A |
T |
4: 143,344,047 (GRCm39) |
D449V |
probably benign |
Het |
| Rasal2 |
A |
T |
1: 157,071,334 (GRCm39) |
|
probably benign |
Het |
| Serpinb5 |
T |
A |
1: 106,809,555 (GRCm39) |
H320Q |
probably damaging |
Het |
| Snx4 |
A |
C |
16: 33,108,094 (GRCm39) |
D296A |
probably benign |
Het |
| Sorcs2 |
T |
C |
5: 36,193,132 (GRCm39) |
Q778R |
probably benign |
Het |
| Spata16 |
T |
C |
3: 26,932,861 (GRCm39) |
|
probably null |
Het |
| Tcerg1l |
G |
T |
7: 137,861,596 (GRCm39) |
Q378K |
probably benign |
Het |
| Trpm1 |
T |
C |
7: 63,884,760 (GRCm39) |
Y814H |
probably benign |
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 |
|
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 |
|
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'- CTGCAAAAGCAGCCTTGAGAG -3'
(R):5'- GGAAGGGGTCTAGACTCATCTTG -3'
Sequencing Primer
(F):5'- AGCAGCCTTGAGAGTGGTG -3'
(R):5'- GGGTCTAGACTCATCTTGTATTTTTC -3'
|
| Posted On |
2015-02-05 |
Incidental Mutation