Incidental Mutation 'R5222:Prrx1'
| ID |
402350 |
| 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 |
042795-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R5222 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
163072688-163141279 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 163089542 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Glutamine
at position 95
(R95Q)
|
| 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: R95Q
PolyPhen 2
Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000027878
Gene: ENSMUSG00000026586
AA Change: R95Q
| 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: R95Q
PolyPhen 2
Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000075203
Gene: ENSMUSG00000026586
AA Change: R95Q
| Domain | Start | End | E-Value | Type |
|---|
|
HOX
|
94 |
156 |
4.93e-26 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000174397
AA Change: R95Q
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000134338
Gene: ENSMUSG00000026586
AA Change: R95Q
| Domain | Start | End | E-Value | Type |
|---|
|
HOX
|
94 |
156 |
4.93e-26 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000183691
|
| Meta Mutation Damage Score |
0.6018 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.8%
|
| Validation Efficiency |
98% (52/53) |
| 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: 50 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930523C07Rik |
C |
A |
1: 159,872,178 (GRCm39) |
|
noncoding transcript |
Het |
| Acad11 |
G |
A |
9: 103,974,576 (GRCm39) |
A515T |
probably damaging |
Het |
| Angpt1 |
T |
C |
15: 42,539,730 (GRCm39) |
Y43C |
probably damaging |
Het |
| Arhgef33 |
A |
G |
17: 80,644,743 (GRCm39) |
Y24C |
probably damaging |
Het |
| Cd40 |
G |
C |
2: 164,908,464 (GRCm39) |
S180T |
probably benign |
Het |
| Cenpc1 |
A |
T |
5: 86,185,606 (GRCm39) |
S302T |
possibly damaging |
Het |
| Cit |
C |
A |
5: 116,090,602 (GRCm39) |
T932K |
probably benign |
Het |
| Col19a1 |
A |
C |
1: 24,598,721 (GRCm39) |
|
probably null |
Het |
| Dapk3 |
A |
G |
10: 81,028,294 (GRCm39) |
E288G |
probably damaging |
Het |
| Ddx60 |
T |
C |
8: 62,437,192 (GRCm39) |
F1002S |
probably damaging |
Het |
| Dgke |
G |
T |
11: 88,941,220 (GRCm39) |
T321K |
probably benign |
Het |
| Ebf2 |
T |
G |
14: 67,551,043 (GRCm39) |
|
probably benign |
Het |
| Enpp7 |
A |
G |
11: 118,881,788 (GRCm39) |
D311G |
probably benign |
Het |
| Epm2a |
A |
G |
10: 11,324,493 (GRCm39) |
E194G |
probably damaging |
Het |
| Esf1 |
A |
G |
2: 140,000,503 (GRCm39) |
Y428H |
possibly damaging |
Het |
| Esyt2 |
T |
C |
12: 116,282,446 (GRCm39) |
F132S |
probably damaging |
Het |
| Gm5455 |
T |
C |
13: 110,441,494 (GRCm39) |
|
noncoding transcript |
Het |
| Gria1 |
T |
A |
11: 57,080,623 (GRCm39) |
V202E |
probably benign |
Het |
| Lin9 |
T |
A |
1: 180,496,763 (GRCm39) |
L351I |
probably benign |
Het |
| Mark1 |
A |
T |
1: 184,660,288 (GRCm39) |
F123I |
probably damaging |
Het |
| Nectin4 |
T |
A |
1: 171,212,825 (GRCm39) |
|
probably null |
Het |
| Obscn |
T |
A |
11: 58,934,971 (GRCm39) |
T5220S |
possibly damaging |
Het |
| Or1e16 |
AGCGGTCGTAGGC |
AGC |
11: 73,286,480 (GRCm39) |
|
probably null |
Het |
| Or2l13 |
A |
C |
16: 19,305,680 (GRCm39) |
I31L |
probably benign |
Het |
| Or2p2 |
T |
A |
13: 21,256,739 (GRCm39) |
H244L |
probably damaging |
Het |
| Pdcd1 |
A |
T |
1: 93,980,175 (GRCm39) |
V14E |
probably damaging |
Het |
| Pmel |
A |
G |
10: 128,554,853 (GRCm39) |
|
probably null |
Het |
| Pramel28 |
T |
A |
4: 143,691,362 (GRCm39) |
I454F |
possibly damaging |
Het |
| Pstpip2 |
T |
A |
18: 77,962,032 (GRCm39) |
Y267* |
probably null |
Het |
| Ptprq |
A |
G |
10: 107,498,425 (GRCm39) |
I884T |
probably damaging |
Het |
| Rad17 |
G |
A |
13: 100,770,399 (GRCm39) |
T216I |
possibly damaging |
Het |
| Rif1 |
T |
C |
2: 51,967,032 (GRCm39) |
I107T |
probably benign |
Het |
| Rpp14 |
T |
C |
14: 8,087,513 (GRCm38) |
L69P |
probably damaging |
Het |
| Rtel1 |
G |
T |
2: 180,988,776 (GRCm39) |
|
probably benign |
Het |
| Sap130 |
C |
T |
18: 31,799,756 (GRCm39) |
T362M |
probably damaging |
Het |
| Scn11a |
A |
G |
9: 119,644,268 (GRCm39) |
|
probably null |
Het |
| Sec31a |
G |
T |
5: 100,530,754 (GRCm39) |
T243N |
probably benign |
Het |
| Slc5a9 |
T |
A |
4: 111,755,808 (GRCm39) |
H30L |
possibly damaging |
Het |
| Slco6b1 |
T |
A |
1: 96,925,216 (GRCm39) |
|
noncoding transcript |
Het |
| Smarca4 |
A |
G |
9: 21,567,002 (GRCm39) |
D694G |
probably benign |
Het |
| Spaca6 |
A |
G |
17: 18,058,367 (GRCm39) |
T213A |
probably benign |
Het |
| Tagap |
C |
A |
17: 8,152,473 (GRCm39) |
Q553K |
possibly damaging |
Het |
| Tagap |
A |
T |
17: 8,152,474 (GRCm39) |
Q553L |
possibly damaging |
Het |
| Tcf7l2 |
A |
G |
19: 55,887,044 (GRCm39) |
Q19R |
probably benign |
Het |
| Ttn |
A |
G |
2: 76,709,197 (GRCm39) |
|
probably benign |
Het |
| Ubr7 |
A |
T |
12: 102,741,964 (GRCm39) |
R399S |
probably benign |
Het |
| Uspl1 |
C |
A |
5: 149,150,911 (GRCm39) |
Q690K |
possibly damaging |
Het |
| Vps8 |
T |
A |
16: 21,400,298 (GRCm39) |
Y853* |
probably null |
Het |
| Vrk3 |
A |
T |
7: 44,409,220 (GRCm39) |
Q129L |
possibly damaging |
Het |
| Wapl |
T |
A |
14: 34,458,642 (GRCm39) |
C901* |
probably null |
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 |
|
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'- TGTTCAGCGATGTGTCACTG -3'
(R):5'- AGGAGGATTCTTGGCCCTTG -3'
Sequencing Primer
(F):5'- TCACTGTGGAGGGCATGC -3'
(R):5'- CCCTTGCTGGCATTTGTATAAG -3'
|
| Posted On |
2016-07-22 |
Incidental Mutation