Incidental Mutation 'R5422:Pdzrn4'
| ID |
426668 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pdzrn4
|
| Ensembl Gene |
ENSMUSG00000036218 |
| Gene Name |
PDZ domain containing RING finger 4 |
| Synonyms |
1110017D07Rik, SAMCAP3L, LNX4 |
| MMRRC Submission |
042846-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.207)
|
| Stock # |
R5422 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
15 |
| Chromosomal Location |
92294762-92669700 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 92575502 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glycine to Serine
at position 303
(G303S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000133159
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000035399]
[ENSMUST00000169942]
|
| AlphaFold |
E9PUZ9 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000035399
AA Change: G64S
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
| SMART Domains |
Protein: ENSMUSP00000040456
Gene: ENSMUSG00000036218
AA Change: G64S
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:PDZ
|
1 |
56 |
4e-24 |
BLAST |
|
SCOP:d1qaua_
|
20 |
61 |
1e-3 |
SMART |
|
PDB:1UHP|A
|
21 |
64 |
9e-12 |
PDB |
|
PDZ
|
154 |
229 |
3.01e-18 |
SMART |
|
low complexity region
|
240 |
259 |
N/A |
INTRINSIC |
|
low complexity region
|
267 |
278 |
N/A |
INTRINSIC |
|
coiled coil region
|
394 |
430 |
N/A |
INTRINSIC |
|
low complexity region
|
563 |
577 |
N/A |
INTRINSIC |
|
low complexity region
|
696 |
709 |
N/A |
INTRINSIC |
|
low complexity region
|
732 |
741 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000169942
AA Change: G303S
PolyPhen 2
Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)
|
| SMART Domains |
Protein: ENSMUSP00000133159
Gene: ENSMUSG00000036218
AA Change: G303S
| Domain | Start | End | E-Value | Type |
|---|
|
RING
|
22 |
56 |
1.38e-1 |
SMART |
|
low complexity region
|
101 |
124 |
N/A |
INTRINSIC |
|
PDZ
|
213 |
295 |
3.82e-20 |
SMART |
|
PDZ
|
393 |
468 |
3.01e-18 |
SMART |
|
low complexity region
|
479 |
498 |
N/A |
INTRINSIC |
|
low complexity region
|
506 |
517 |
N/A |
INTRINSIC |
|
coiled coil region
|
633 |
669 |
N/A |
INTRINSIC |
|
low complexity region
|
802 |
816 |
N/A |
INTRINSIC |
|
low complexity region
|
935 |
948 |
N/A |
INTRINSIC |
|
low complexity region
|
971 |
980 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000229173
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.1%
- 20x: 94.9%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 62 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adamts18 |
T |
C |
8: 114,425,606 (GRCm39) |
S1219G |
probably benign |
Het |
| Adgrg5 |
T |
A |
8: 95,660,580 (GRCm39) |
I73N |
probably damaging |
Het |
| Agmat |
C |
A |
4: 141,483,144 (GRCm39) |
H193N |
probably damaging |
Het |
| Ambn |
T |
C |
5: 88,612,370 (GRCm39) |
|
probably null |
Het |
| Atp8b5 |
T |
A |
4: 43,366,644 (GRCm39) |
C803S |
probably benign |
Het |
| Btaf1 |
A |
T |
19: 36,928,507 (GRCm39) |
R109S |
probably benign |
Het |
| Btnl6 |
C |
T |
17: 34,733,081 (GRCm39) |
G261R |
possibly damaging |
Het |
| Clk3 |
A |
G |
9: 57,672,721 (GRCm39) |
V27A |
probably benign |
Het |
| Clu |
A |
G |
14: 66,213,051 (GRCm39) |
S146G |
probably damaging |
Het |
| Cyp2w1 |
T |
C |
5: 139,338,528 (GRCm39) |
F43L |
probably benign |
Het |
| Elf3 |
C |
T |
1: 135,182,778 (GRCm39) |
E316K |
probably damaging |
Het |
| Epha5 |
A |
T |
5: 84,479,349 (GRCm39) |
D218E |
probably damaging |
Het |
| Ereg |
T |
C |
5: 91,222,666 (GRCm39) |
|
probably null |
Het |
| Ewsr1 |
A |
G |
11: 5,030,668 (GRCm39) |
|
probably benign |
Het |
| Fat4 |
A |
G |
3: 38,941,394 (GRCm39) |
I96V |
possibly damaging |
Het |
| Fgl2 |
T |
G |
5: 21,580,808 (GRCm39) |
N383K |
probably damaging |
Het |
| Fkbp11 |
A |
T |
15: 98,625,989 (GRCm39) |
|
probably null |
Het |
| Fn3k |
C |
A |
11: 121,340,948 (GRCm39) |
P201Q |
probably damaging |
Het |
| Fsip2 |
A |
G |
2: 82,812,572 (GRCm39) |
I2964V |
probably benign |
Het |
| Gbx1 |
C |
T |
5: 24,709,667 (GRCm39) |
V393I |
possibly damaging |
Het |
| Gch1 |
C |
T |
14: 47,394,906 (GRCm39) |
A187T |
probably damaging |
Het |
| Ghdc |
C |
A |
11: 100,660,020 (GRCm39) |
K242N |
probably benign |
Het |
| Ghrhr |
A |
G |
6: 55,365,188 (GRCm39) |
H394R |
probably benign |
Het |
| Gje1 |
G |
A |
10: 14,592,428 (GRCm39) |
S118L |
probably damaging |
Het |
| Hnrnpa2b1 |
A |
T |
6: 51,442,208 (GRCm39) |
S236R |
probably benign |
Het |
| Kcnj5 |
A |
G |
9: 32,229,001 (GRCm39) |
Y66H |
probably benign |
Het |
| Kif15 |
T |
A |
9: 122,813,954 (GRCm39) |
|
probably null |
Het |
| Magi3 |
C |
T |
3: 103,958,684 (GRCm39) |
C467Y |
probably damaging |
Het |
| Map7 |
G |
T |
10: 20,142,512 (GRCm39) |
V303F |
probably damaging |
Het |
| Mapk11 |
A |
G |
15: 89,030,488 (GRCm39) |
L135P |
probably damaging |
Het |
| Mapkapk5 |
T |
A |
5: 121,669,785 (GRCm39) |
|
probably null |
Het |
| Myh7b |
A |
C |
2: 155,472,954 (GRCm39) |
Q1405P |
probably damaging |
Het |
| Nalcn |
A |
T |
14: 123,752,777 (GRCm39) |
I328N |
probably damaging |
Het |
| Nprl2 |
C |
A |
9: 107,420,796 (GRCm39) |
R144S |
probably benign |
Het |
| Ogfr |
G |
T |
2: 180,237,067 (GRCm39) |
D551Y |
possibly damaging |
Het |
| Ogfr |
A |
T |
2: 180,237,068 (GRCm39) |
D551V |
probably benign |
Het |
| Or6b13 |
A |
T |
7: 139,782,305 (GRCm39) |
V126E |
probably damaging |
Het |
| Or8c10 |
A |
T |
9: 38,279,270 (GRCm39) |
T143S |
probably benign |
Het |
| Parp14 |
T |
C |
16: 35,686,545 (GRCm39) |
K101E |
probably benign |
Het |
| Pcdhb16 |
A |
T |
18: 37,612,920 (GRCm39) |
T627S |
probably damaging |
Het |
| Plcl1 |
A |
T |
1: 55,736,543 (GRCm39) |
Y628F |
probably benign |
Het |
| Ptpn9 |
T |
A |
9: 56,940,441 (GRCm39) |
W194R |
probably damaging |
Het |
| Ranbp9 |
A |
T |
13: 43,573,102 (GRCm39) |
M474K |
probably benign |
Het |
| Rasgef1a |
T |
A |
6: 118,065,095 (GRCm39) |
F370Y |
probably damaging |
Het |
| Rassf5 |
C |
A |
1: 131,108,911 (GRCm39) |
R218L |
possibly damaging |
Het |
| Scart1 |
A |
T |
7: 139,804,068 (GRCm39) |
H422L |
probably benign |
Het |
| Serpine2 |
C |
A |
1: 79,794,592 (GRCm39) |
V114L |
probably benign |
Het |
| Serpine2 |
T |
C |
1: 79,799,206 (GRCm39) |
Y16C |
probably benign |
Het |
| Sgms1 |
G |
T |
19: 32,137,232 (GRCm39) |
N111K |
probably damaging |
Het |
| Sh3bp5 |
C |
A |
14: 31,099,452 (GRCm39) |
R265L |
probably benign |
Het |
| Slc45a2 |
C |
T |
15: 11,027,871 (GRCm39) |
T480I |
probably damaging |
Het |
| Tbc1d17 |
A |
T |
7: 44,498,292 (GRCm39) |
M1K |
probably null |
Het |
| Tcf12 |
A |
T |
9: 71,776,320 (GRCm39) |
H403Q |
probably damaging |
Het |
| Thoc2l |
T |
C |
5: 104,667,512 (GRCm39) |
I678T |
probably damaging |
Het |
| Thsd7b |
T |
C |
1: 129,849,071 (GRCm39) |
S928P |
probably benign |
Het |
| Tjp1 |
A |
T |
7: 64,952,715 (GRCm39) |
F1540I |
probably damaging |
Het |
| Tph2 |
T |
A |
10: 114,915,669 (GRCm39) |
D457V |
possibly damaging |
Het |
| Usp9y |
T |
C |
Y: 1,314,676 (GRCm39) |
I2112V |
probably benign |
Het |
| Vps51 |
T |
G |
19: 6,121,063 (GRCm39) |
E283D |
probably benign |
Het |
| Zfp335 |
T |
C |
2: 164,749,650 (GRCm39) |
K249R |
probably damaging |
Het |
| Zfp54 |
C |
A |
17: 21,654,788 (GRCm39) |
S427R |
probably benign |
Het |
| Zfp607b |
A |
G |
7: 27,401,813 (GRCm39) |
T90A |
probably benign |
Het |
|
| Other mutations in Pdzrn4 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01932:Pdzrn4
|
APN |
15 |
92,644,159 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01991:Pdzrn4
|
APN |
15 |
92,299,807 (GRCm39) |
splice site |
probably null |
|
|
IGL02103:Pdzrn4
|
APN |
15 |
92,667,768 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02243:Pdzrn4
|
APN |
15 |
92,668,577 (GRCm39) |
missense |
probably benign |
0.30 |
|
IGL02269:Pdzrn4
|
APN |
15 |
92,667,731 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03005:Pdzrn4
|
APN |
15 |
92,668,272 (GRCm39) |
missense |
probably damaging |
1.00 |
|
PIT4362001:Pdzrn4
|
UTSW |
15 |
92,667,762 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
R0243:Pdzrn4
|
UTSW |
15 |
92,668,200 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
R0367:Pdzrn4
|
UTSW |
15 |
92,655,538 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R0972:Pdzrn4
|
UTSW |
15 |
92,655,592 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1168:Pdzrn4
|
UTSW |
15 |
92,668,152 (GRCm39) |
missense |
probably benign |
0.16 |
|
R1411:Pdzrn4
|
UTSW |
15 |
92,668,894 (GRCm39) |
makesense |
probably null |
|
|
R1466:Pdzrn4
|
UTSW |
15 |
92,668,418 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1466:Pdzrn4
|
UTSW |
15 |
92,668,418 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1489:Pdzrn4
|
UTSW |
15 |
92,575,593 (GRCm39) |
missense |
probably benign |
|
|
R1503:Pdzrn4
|
UTSW |
15 |
92,297,685 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1561:Pdzrn4
|
UTSW |
15 |
92,575,518 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
R1584:Pdzrn4
|
UTSW |
15 |
92,668,418 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1733:Pdzrn4
|
UTSW |
15 |
92,299,855 (GRCm39) |
missense |
probably benign |
0.06 |
|
R1965:Pdzrn4
|
UTSW |
15 |
92,644,190 (GRCm39) |
splice site |
probably null |
|
|
R2061:Pdzrn4
|
UTSW |
15 |
92,668,041 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R3010:Pdzrn4
|
UTSW |
15 |
92,667,692 (GRCm39) |
missense |
probably benign |
0.32 |
|
R4016:Pdzrn4
|
UTSW |
15 |
92,297,630 (GRCm39) |
missense |
probably benign |
|
|
R4032:Pdzrn4
|
UTSW |
15 |
92,667,414 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4110:Pdzrn4
|
UTSW |
15 |
92,668,745 (GRCm39) |
missense |
probably benign |
0.26 |
|
R4180:Pdzrn4
|
UTSW |
15 |
92,299,898 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R4539:Pdzrn4
|
UTSW |
15 |
92,668,470 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4617:Pdzrn4
|
UTSW |
15 |
92,667,723 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4734:Pdzrn4
|
UTSW |
15 |
92,668,133 (GRCm39) |
nonsense |
probably null |
|
|
R4900:Pdzrn4
|
UTSW |
15 |
92,668,638 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5444:Pdzrn4
|
UTSW |
15 |
92,668,806 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5772:Pdzrn4
|
UTSW |
15 |
92,655,562 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5775:Pdzrn4
|
UTSW |
15 |
92,655,562 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5935:Pdzrn4
|
UTSW |
15 |
92,295,255 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6192:Pdzrn4
|
UTSW |
15 |
92,655,562 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6210:Pdzrn4
|
UTSW |
15 |
92,655,562 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6258:Pdzrn4
|
UTSW |
15 |
92,655,562 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6259:Pdzrn4
|
UTSW |
15 |
92,655,562 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6391:Pdzrn4
|
UTSW |
15 |
92,578,418 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6613:Pdzrn4
|
UTSW |
15 |
92,575,455 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7046:Pdzrn4
|
UTSW |
15 |
92,668,303 (GRCm39) |
nonsense |
probably null |
|
|
R7096:Pdzrn4
|
UTSW |
15 |
92,295,384 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7451:Pdzrn4
|
UTSW |
15 |
92,667,948 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
R8075:Pdzrn4
|
UTSW |
15 |
92,575,605 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8125:Pdzrn4
|
UTSW |
15 |
92,641,476 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8324:Pdzrn4
|
UTSW |
15 |
92,668,818 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9332:Pdzrn4
|
UTSW |
15 |
92,295,216 (GRCm39) |
missense |
probably benign |
|
|
R9555:Pdzrn4
|
UTSW |
15 |
92,297,703 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9558:Pdzrn4
|
UTSW |
15 |
92,299,877 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
R9622:Pdzrn4
|
UTSW |
15 |
92,294,949 (GRCm39) |
missense |
probably benign |
|
|
R9763:Pdzrn4
|
UTSW |
15 |
92,668,376 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9796:Pdzrn4
|
UTSW |
15 |
92,578,353 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
X0018:Pdzrn4
|
UTSW |
15 |
92,295,104 (GRCm39) |
missense |
probably benign |
0.01 |
|
X0020:Pdzrn4
|
UTSW |
15 |
92,295,104 (GRCm39) |
missense |
probably benign |
0.01 |
|
X0021:Pdzrn4
|
UTSW |
15 |
92,575,590 (GRCm39) |
missense |
probably damaging |
1.00 |
|
X0026:Pdzrn4
|
UTSW |
15 |
92,295,104 (GRCm39) |
missense |
probably benign |
0.01 |
|
X0027:Pdzrn4
|
UTSW |
15 |
92,578,393 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
X0027:Pdzrn4
|
UTSW |
15 |
92,295,104 (GRCm39) |
missense |
probably benign |
0.01 |
|
X0065:Pdzrn4
|
UTSW |
15 |
92,295,104 (GRCm39) |
missense |
probably benign |
0.01 |
|
Z1176:Pdzrn4
|
UTSW |
15 |
92,294,838 (GRCm39) |
missense |
probably benign |
0.03 |
|
| Predicted Primers |
PCR Primer
(F):5'- GAAAGCTGGTCAGTCTGTCTGG -3'
(R):5'- AAACTGCCAACTTCTGGGGTG -3'
Sequencing Primer
(F):5'- GGCACCTTTCTGTTCTTACTCTGAC -3'
(R):5'- CTTTCAAAAGTGAACGGCAAAC -3'
|
| Posted On |
2016-09-01 |
Incidental Mutation