Incidental Mutation 'IGL01103:Prrx1'
| ID |
50271 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Prrx1
|
| Ensembl Gene |
ENSMUSG00000026586 |
| Gene Name |
paired related homeobox 1 |
| Synonyms |
mHox, A230024N07Rik, Prx1, Pmx1, MHox1, mHox, K-2 |
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
IGL01103
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
1 |
| Chromosomal Location |
163072688-163141279 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 163089531 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 99
(T99A)
|
| 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: T99A
PolyPhen 2
Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000027878
Gene: ENSMUSG00000026586
AA Change: T99A
| 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: T99A
PolyPhen 2
Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000075203
Gene: ENSMUSG00000026586
AA Change: T99A
| Domain | Start | End | E-Value | Type |
|---|
|
HOX
|
94 |
156 |
4.93e-26 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000174397
AA Change: T99A
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000134338
Gene: ENSMUSG00000026586
AA Change: T99A
| Domain | Start | End | E-Value | Type |
|---|
|
HOX
|
94 |
156 |
4.93e-26 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000183691
|
| Coding Region Coverage |
|
| 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: 29 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Calhm6 |
A |
T |
10: 34,002,361 (GRCm39) |
C241S |
probably benign |
Het |
| Cdh3 |
A |
G |
8: 107,281,937 (GRCm39) |
Y775C |
probably damaging |
Het |
| Clip2 |
A |
G |
5: 134,521,204 (GRCm39) |
S980P |
possibly damaging |
Het |
| Ddx51 |
C |
T |
5: 110,803,729 (GRCm39) |
A375V |
probably benign |
Het |
| Eif4e |
A |
G |
3: 138,253,412 (GRCm39) |
|
probably benign |
Het |
| Epb41l5 |
T |
C |
1: 119,495,577 (GRCm39) |
D588G |
probably benign |
Het |
| Fer1l4 |
C |
T |
2: 155,886,361 (GRCm39) |
|
probably null |
Het |
| Fli1 |
T |
C |
9: 32,335,236 (GRCm39) |
N399D |
probably benign |
Het |
| Gm20422 |
T |
C |
8: 70,195,776 (GRCm39) |
T168A |
possibly damaging |
Het |
| Kcnk12 |
C |
T |
17: 88,054,195 (GRCm39) |
G156R |
probably damaging |
Het |
| Kntc1 |
T |
A |
5: 123,902,283 (GRCm39) |
S309T |
probably damaging |
Het |
| Lcp1 |
T |
A |
14: 75,464,533 (GRCm39) |
|
probably null |
Het |
| Neo1 |
A |
G |
9: 58,788,082 (GRCm39) |
C1324R |
possibly damaging |
Het |
| Nin |
G |
A |
12: 70,103,532 (GRCm39) |
T236I |
probably damaging |
Het |
| Npy6r |
A |
G |
18: 44,408,585 (GRCm39) |
E2G |
probably benign |
Het |
| Numa1 |
T |
C |
7: 101,650,778 (GRCm39) |
V136A |
probably benign |
Het |
| Pcdhb8 |
A |
G |
18: 37,490,253 (GRCm39) |
K644E |
probably damaging |
Het |
| Polr3h |
T |
A |
15: 81,806,697 (GRCm39) |
N41Y |
probably damaging |
Het |
| Prss1l |
T |
A |
6: 41,374,091 (GRCm39) |
V231D |
probably damaging |
Het |
| Rbm18 |
G |
A |
2: 36,024,184 (GRCm39) |
R26* |
probably null |
Het |
| Repin1 |
G |
T |
6: 48,574,887 (GRCm39) |
|
probably benign |
Het |
| Rnase1 |
T |
C |
14: 51,383,079 (GRCm39) |
N92D |
probably benign |
Het |
| Sidt1 |
A |
T |
16: 44,063,906 (GRCm39) |
C782* |
probably null |
Het |
| Slc27a6 |
T |
A |
18: 58,689,836 (GRCm39) |
S101T |
probably benign |
Het |
| Stard9 |
A |
G |
2: 120,532,328 (GRCm39) |
N2862D |
possibly damaging |
Het |
| Tedc1 |
C |
T |
12: 113,126,808 (GRCm39) |
R357* |
probably null |
Het |
| Tril |
A |
G |
6: 53,796,023 (GRCm39) |
Y400H |
probably damaging |
Het |
| Trim34b |
T |
C |
7: 103,979,106 (GRCm39) |
C118R |
probably damaging |
Het |
| Vwa7 |
T |
C |
17: 35,243,918 (GRCm39) |
V784A |
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 |
|
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 |
|
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 |
|
|
| Posted On |
2013-06-21 |
Incidental Mutation