Incidental Mutation 'R3015:Pax2'
| ID |
257658 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pax2
|
| Ensembl Gene |
ENSMUSG00000004231 |
| Gene Name |
paired box 2 |
| Synonyms |
Opdc, Pax-2 |
| MMRRC Submission |
040536-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R3015 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
19 |
| Chromosomal Location |
44744484-44826310 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 44804463 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Leucine
at position 268
(F268L)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000004340]
[ENSMUST00000173346]
[ENSMUST00000174490]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000004340
AA Change: F267L
PolyPhen 2
Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000004340
Gene: ENSMUSG00000004231
AA Change: F267L
| Domain | Start | End | E-Value | Type |
|---|
|
PAX
|
15 |
139 |
4e-96 |
SMART |
|
low complexity region
|
165 |
177 |
N/A |
INTRINSIC |
|
SCOP:d1ftt__
|
246 |
280 |
1e-4 |
SMART |
|
Pfam:Pax2_C
|
300 |
415 |
1.1e-55 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000172880
AA Change: F268L
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000134174
Gene: ENSMUSG00000004231
AA Change: F268L
| Domain | Start | End | E-Value | Type |
|---|
|
PAX
|
16 |
140 |
2.3e-96 |
SMART |
|
low complexity region
|
166 |
178 |
N/A |
INTRINSIC |
|
SCOP:d1ftt__
|
247 |
281 |
7e-5 |
SMART |
|
Pfam:Pax2_C
|
304 |
415 |
5.5e-47 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000173346
AA Change: F241L
PolyPhen 2
Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000134311
Gene: ENSMUSG00000004231
AA Change: F241L
| Domain | Start | End | E-Value | Type |
|---|
|
PAX
|
20 |
144 |
2.3e-96 |
SMART |
|
low complexity region
|
170 |
182 |
N/A |
INTRINSIC |
|
SCOP:d1ftt__
|
220 |
254 |
5e-5 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000174490
AA Change: F245L
PolyPhen 2
Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000134661
Gene: ENSMUSG00000004231
AA Change: F245L
| Domain | Start | End | E-Value | Type |
|---|
|
PAX
|
16 |
140 |
2.3e-96 |
SMART |
|
low complexity region
|
166 |
178 |
N/A |
INTRINSIC |
|
SCOP:d1ftt__
|
224 |
258 |
8e-5 |
SMART |
|
Pfam:Pax2_C
|
278 |
393 |
6.3e-57 |
PFAM |
|
| Meta Mutation Damage Score |
0.9614 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 94.9%
|
| Validation Efficiency |
100% (38/38) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] PAX2 encodes paired box gene 2, one of many human homologues of the Drosophila melanogaster gene prd. The central feature of this transcription factor gene family is the conserved DNA-binding paired box domain. PAX2 is believed to be a target of transcriptional supression by the tumor suppressor gene WT1. Mutations within PAX2 have been shown to result in optic nerve colobomas and renal hypoplasia. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Dec 2014]
PHENOTYPE: Homozygous targeted and spontaneous null mutants show impaired to absent development of optic nerve, retina, kidney, ureters, genital tracts, inner ear and midhindbrain. Heterozygotes show milder defects of the optic nerve, retina and kidney. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 36 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adamts9 |
T |
C |
6: 92,849,913 (GRCm39) |
H380R |
probably benign |
Het |
| Aff3 |
A |
T |
1: 38,249,649 (GRCm39) |
I486N |
probably benign |
Het |
| Bltp1 |
T |
A |
3: 36,929,611 (GRCm39) |
F76Y |
probably damaging |
Het |
| Cfap44 |
A |
C |
16: 44,230,832 (GRCm39) |
D271A |
probably benign |
Het |
| Dbndd2 |
T |
A |
2: 164,330,270 (GRCm39) |
V34D |
probably damaging |
Het |
| Erc2 |
T |
A |
14: 27,733,732 (GRCm39) |
|
probably null |
Het |
| Fcgbp |
T |
C |
7: 27,774,838 (GRCm39) |
|
probably benign |
Het |
| Frem3 |
T |
C |
8: 81,417,402 (GRCm39) |
S2036P |
probably damaging |
Het |
| Golph3l |
A |
G |
3: 95,499,024 (GRCm39) |
|
probably benign |
Het |
| Grm7 |
G |
T |
6: 110,623,309 (GRCm39) |
V161F |
probably damaging |
Het |
| Ifrd2 |
G |
A |
9: 107,467,221 (GRCm39) |
G60S |
probably null |
Het |
| Ints9 |
T |
A |
14: 65,187,727 (GRCm39) |
W3R |
probably benign |
Het |
| Jmjd1c |
A |
G |
10: 66,993,711 (GRCm39) |
E64G |
probably damaging |
Het |
| Katnip |
T |
A |
7: 125,465,512 (GRCm39) |
H1321Q |
probably damaging |
Het |
| Matn3 |
A |
C |
12: 9,002,217 (GRCm39) |
Q143P |
probably damaging |
Het |
| Myo18a |
A |
T |
11: 77,749,846 (GRCm39) |
|
probably benign |
Het |
| Nop9 |
T |
C |
14: 55,988,631 (GRCm39) |
S358P |
probably benign |
Het |
| Pard3b |
T |
C |
1: 62,384,037 (GRCm39) |
S801P |
probably damaging |
Het |
| Pik3r1 |
A |
G |
13: 101,823,771 (GRCm39) |
I538T |
probably damaging |
Het |
| Plekha8 |
T |
C |
6: 54,599,107 (GRCm39) |
S214P |
probably benign |
Het |
| Ppme1 |
T |
C |
7: 99,981,084 (GRCm39) |
H352R |
probably damaging |
Het |
| Ppp1r26 |
A |
C |
2: 28,342,314 (GRCm39) |
D648A |
probably damaging |
Het |
| Prom1 |
C |
A |
5: 44,191,733 (GRCm39) |
V337F |
probably damaging |
Het |
| Rapgef4 |
T |
C |
2: 72,028,717 (GRCm39) |
I378T |
probably damaging |
Het |
| Rnf115 |
T |
C |
3: 96,661,675 (GRCm39) |
S43P |
probably damaging |
Het |
| Rnf216 |
A |
G |
5: 143,061,480 (GRCm39) |
|
probably null |
Het |
| Scn7a |
G |
T |
2: 66,530,240 (GRCm39) |
Q702K |
probably benign |
Het |
| Shisal2b |
T |
A |
13: 104,994,899 (GRCm39) |
I83F |
possibly damaging |
Het |
| Slc2a1 |
T |
A |
4: 118,989,340 (GRCm39) |
N13K |
probably damaging |
Het |
| Tnr |
A |
G |
1: 159,715,829 (GRCm39) |
I864V |
probably benign |
Het |
| Tspyl3 |
A |
T |
2: 153,066,650 (GRCm39) |
M196K |
probably damaging |
Het |
| Ttn |
A |
T |
2: 76,641,587 (GRCm39) |
L5176Q |
possibly damaging |
Het |
| Umod |
T |
C |
7: 119,071,763 (GRCm39) |
D326G |
probably damaging |
Het |
| Upf2 |
A |
G |
2: 5,980,890 (GRCm39) |
D492G |
unknown |
Het |
| Vash1 |
A |
G |
12: 86,732,194 (GRCm39) |
T126A |
probably benign |
Het |
| Vsig10l |
T |
A |
7: 43,116,881 (GRCm39) |
I574K |
possibly damaging |
Het |
|
| Other mutations in Pax2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01341:Pax2
|
APN |
19 |
44,779,127 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02368:Pax2
|
APN |
19 |
44,823,848 (GRCm39) |
missense |
possibly damaging |
0.55 |
|
IGL03146:Pax2
|
APN |
19 |
44,821,714 (GRCm39) |
splice site |
probably benign |
|
|
R0084:Pax2
|
UTSW |
19 |
44,806,874 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0554:Pax2
|
UTSW |
19 |
44,750,300 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1116:Pax2
|
UTSW |
19 |
44,745,863 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1951:Pax2
|
UTSW |
19 |
44,777,271 (GRCm39) |
missense |
probably benign |
0.09 |
|
R1952:Pax2
|
UTSW |
19 |
44,777,271 (GRCm39) |
missense |
probably benign |
0.09 |
|
R1981:Pax2
|
UTSW |
19 |
44,806,904 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4320:Pax2
|
UTSW |
19 |
44,823,838 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R4561:Pax2
|
UTSW |
19 |
44,824,402 (GRCm39) |
missense |
unknown |
|
|
R4562:Pax2
|
UTSW |
19 |
44,824,402 (GRCm39) |
missense |
unknown |
|
|
R4661:Pax2
|
UTSW |
19 |
44,749,376 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4948:Pax2
|
UTSW |
19 |
44,804,479 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5131:Pax2
|
UTSW |
19 |
44,749,394 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R5622:Pax2
|
UTSW |
19 |
44,806,905 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5661:Pax2
|
UTSW |
19 |
44,779,161 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6110:Pax2
|
UTSW |
19 |
44,779,175 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6171:Pax2
|
UTSW |
19 |
44,779,179 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6713:Pax2
|
UTSW |
19 |
44,823,916 (GRCm39) |
missense |
unknown |
|
|
R6791:Pax2
|
UTSW |
19 |
44,777,260 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
R7156:Pax2
|
UTSW |
19 |
44,777,298 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7679:Pax2
|
UTSW |
19 |
44,749,376 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7695:Pax2
|
UTSW |
19 |
44,821,638 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8005:Pax2
|
UTSW |
19 |
44,749,328 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8555:Pax2
|
UTSW |
19 |
44,750,128 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8849:Pax2
|
UTSW |
19 |
44,749,111 (GRCm39) |
intron |
probably benign |
|
|
R8878:Pax2
|
UTSW |
19 |
44,777,215 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R9043:Pax2
|
UTSW |
19 |
44,804,499 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9103:Pax2
|
UTSW |
19 |
44,806,968 (GRCm39) |
missense |
probably benign |
0.00 |
|
X0018:Pax2
|
UTSW |
19 |
44,785,115 (GRCm39) |
missense |
probably benign |
0.02 |
|
| Predicted Primers |
PCR Primer
(F):5'- TACAGACATGGACTCAGGGG -3'
(R):5'- CGTCTATCTGTGTGGTCACG -3'
Sequencing Primer
(F):5'- CATGGACTCAGGGGCACAG -3'
(R):5'- CTATCTGTGTGGTCACGTGGTAC -3'
|
| Posted On |
2015-01-11 |
Incidental Mutation