Incidental Mutation 'R8324:Pdzrn4'
| ID |
644016 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pdzrn4
|
| Ensembl Gene |
ENSMUSG00000036218 |
| Gene Name |
PDZ domain containing RING finger 4 |
| Synonyms |
1110017D07Rik, SAMCAP3L, LNX4 |
| MMRRC Submission |
067725-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.214)
|
| Stock # |
R8324 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
15 |
| Chromosomal Location |
92294762-92669700 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 92668818 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 990
(E990G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000133159
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000035399]
[ENSMUST00000169942]
|
| AlphaFold |
E9PUZ9 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000035399
AA Change: E751G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000040456
Gene: ENSMUSG00000036218
AA Change: E751G
| 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 damaging
Transcript: ENSMUST00000169942
AA Change: E990G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000133159
Gene: ENSMUSG00000036218
AA Change: E990G
| 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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.6%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 70 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca13 |
T |
C |
11: 9,240,395 (GRCm39) |
S753P |
probably damaging |
Het |
| Acan |
A |
G |
7: 78,740,804 (GRCm39) |
E390G |
probably damaging |
Het |
| Antxr2 |
T |
C |
5: 98,086,368 (GRCm39) |
N413S |
probably damaging |
Het |
| Bace2 |
C |
T |
16: 97,158,108 (GRCm39) |
A36V |
possibly damaging |
Het |
| Caprin1 |
G |
A |
2: 103,613,526 (GRCm39) |
R79* |
probably null |
Het |
| Cdan1 |
A |
G |
2: 120,557,806 (GRCm39) |
V507A |
probably benign |
Het |
| Cdkl3 |
T |
A |
11: 51,913,706 (GRCm39) |
|
probably null |
Het |
| Chst5 |
A |
T |
8: 112,617,140 (GRCm39) |
L160Q |
probably benign |
Het |
| Col11a1 |
C |
G |
3: 113,958,059 (GRCm39) |
P1111R |
probably damaging |
Het |
| Col6a6 |
T |
A |
9: 105,632,853 (GRCm39) |
E1470D |
probably benign |
Het |
| Cpped1 |
T |
A |
16: 11,623,340 (GRCm39) |
T274S |
probably benign |
Het |
| Ctnnbl1 |
G |
A |
2: 157,621,735 (GRCm39) |
E75K |
probably damaging |
Het |
| Cyp4f40 |
T |
C |
17: 32,878,502 (GRCm39) |
S15P |
probably benign |
Het |
| Ddx46 |
T |
C |
13: 55,811,727 (GRCm39) |
S643P |
probably damaging |
Het |
| Defb34 |
A |
G |
8: 19,173,814 (GRCm39) |
Q16R |
probably null |
Het |
| Dhrs2 |
T |
A |
14: 55,476,221 (GRCm39) |
V147E |
probably damaging |
Het |
| Dnah5 |
G |
T |
15: 28,347,011 (GRCm39) |
R2498L |
probably damaging |
Het |
| Dpp10 |
T |
A |
1: 123,781,901 (GRCm39) |
I93F |
probably benign |
Het |
| Eef1e1 |
T |
A |
13: 38,839,045 (GRCm39) |
D104V |
probably damaging |
Het |
| Egfr |
A |
G |
11: 16,808,971 (GRCm39) |
Y55C |
probably damaging |
Het |
| Egfr |
A |
C |
11: 16,858,885 (GRCm39) |
I955L |
probably damaging |
Het |
| Ehbp1l1 |
C |
A |
19: 5,770,026 (GRCm39) |
V426F |
possibly damaging |
Het |
| Elp1 |
C |
T |
4: 56,772,491 (GRCm39) |
E877K |
probably damaging |
Het |
| Fam234a |
C |
T |
17: 26,437,672 (GRCm39) |
V108I |
probably benign |
Het |
| Fzd8 |
T |
A |
18: 9,214,688 (GRCm39) |
M590K |
probably damaging |
Het |
| Gm13287 |
T |
C |
4: 88,721,875 (GRCm39) |
S129P |
probably damaging |
Het |
| Heatr5b |
A |
G |
17: 79,062,793 (GRCm39) |
S1919P |
possibly damaging |
Het |
| Hspg2 |
C |
G |
4: 137,246,290 (GRCm39) |
P1023A |
possibly damaging |
Het |
| Itpr2 |
T |
C |
6: 146,229,896 (GRCm39) |
E1233G |
probably damaging |
Het |
| Kcnmb4 |
A |
G |
10: 116,254,219 (GRCm39) |
L186P |
probably damaging |
Het |
| Krt72 |
T |
A |
15: 101,690,580 (GRCm39) |
Y224F |
probably damaging |
Het |
| Loxhd1 |
T |
C |
18: 77,427,275 (GRCm39) |
|
probably null |
Het |
| Lrguk |
A |
G |
6: 34,079,506 (GRCm39) |
T914A |
probably benign |
Het |
| Lrrtm4 |
A |
G |
6: 79,998,974 (GRCm39) |
T129A |
probably damaging |
Het |
| Mmp13 |
A |
T |
9: 7,276,636 (GRCm39) |
I244F |
possibly damaging |
Het |
| Mob1a |
T |
A |
6: 83,306,956 (GRCm39) |
L41Q |
probably damaging |
Het |
| Mtcl1 |
T |
C |
17: 66,743,212 (GRCm39) |
R426G |
probably damaging |
Het |
| Mybbp1a |
T |
C |
11: 72,336,114 (GRCm39) |
|
probably null |
Het |
| Myh9 |
A |
G |
15: 77,673,117 (GRCm39) |
|
probably null |
Het |
| Myo1d |
T |
A |
11: 80,448,347 (GRCm39) |
D926V |
probably damaging |
Het |
| Ncapg |
T |
G |
5: 45,853,010 (GRCm39) |
H825Q |
probably damaging |
Het |
| Olfml1 |
T |
C |
7: 107,189,570 (GRCm39) |
S212P |
probably benign |
Het |
| Or52p1 |
G |
A |
7: 104,267,321 (GRCm39) |
R145H |
probably benign |
Het |
| Pak2 |
T |
C |
16: 31,871,029 (GRCm39) |
N51S |
probably benign |
Het |
| Papln |
T |
C |
12: 83,833,393 (GRCm39) |
Y1132H |
probably damaging |
Het |
| Pax3 |
T |
A |
1: 78,170,426 (GRCm39) |
R134S |
probably damaging |
Het |
| Peak1 |
A |
T |
9: 56,114,760 (GRCm39) |
W1394R |
probably damaging |
Het |
| Pkn2 |
T |
C |
3: 142,534,771 (GRCm39) |
N285D |
probably benign |
Het |
| Pramel13 |
A |
C |
4: 144,122,427 (GRCm39) |
L39R |
probably damaging |
Het |
| Prrc2a |
A |
G |
17: 35,375,960 (GRCm39) |
S897P |
possibly damaging |
Het |
| Rad51 |
A |
G |
2: 118,954,312 (GRCm39) |
T131A |
possibly damaging |
Het |
| Rc3h2 |
T |
A |
2: 37,290,738 (GRCm39) |
T255S |
possibly damaging |
Het |
| Repin1 |
G |
T |
6: 48,574,279 (GRCm39) |
E403* |
probably null |
Het |
| Rictor |
T |
A |
15: 6,775,043 (GRCm39) |
V125E |
probably damaging |
Het |
| Rps6ka5 |
C |
T |
12: 100,524,746 (GRCm39) |
D664N |
possibly damaging |
Het |
| Rreb1 |
T |
A |
13: 38,131,597 (GRCm39) |
W1584R |
probably damaging |
Het |
| Rxra |
T |
C |
2: 27,631,195 (GRCm39) |
I142T |
probably damaging |
Het |
| Sall2 |
T |
C |
14: 52,550,343 (GRCm39) |
T951A |
probably benign |
Het |
| Slc15a2 |
T |
G |
16: 36,579,669 (GRCm39) |
N359T |
probably damaging |
Het |
| Slc23a1 |
C |
T |
18: 35,755,588 (GRCm39) |
G436E |
probably damaging |
Het |
| Slc6a13 |
T |
C |
6: 121,314,373 (GRCm39) |
*603Q |
probably null |
Het |
| Sptb |
T |
C |
12: 76,665,936 (GRCm39) |
D894G |
possibly damaging |
Het |
| Srgn |
A |
G |
10: 62,343,444 (GRCm39) |
L17P |
probably damaging |
Het |
| Tmprss9 |
T |
C |
10: 80,733,205 (GRCm39) |
|
probably null |
Het |
| Trav9n-4 |
T |
C |
14: 53,532,403 (GRCm39) |
F86L |
probably benign |
Het |
| Trp63 |
A |
G |
16: 25,695,484 (GRCm39) |
Y482C |
unknown |
Het |
| Ttc9b |
G |
T |
7: 27,353,394 (GRCm39) |
A15S |
probably damaging |
Het |
| Urb1 |
A |
T |
16: 90,588,078 (GRCm39) |
I410N |
probably damaging |
Het |
| Vmn2r82 |
A |
T |
10: 79,214,727 (GRCm39) |
K237* |
probably null |
Het |
| Wwox |
G |
A |
8: 115,215,745 (GRCm39) |
|
probably null |
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 |
|
R5422:Pdzrn4
|
UTSW |
15 |
92,575,502 (GRCm39) |
missense |
probably benign |
0.01 |
|
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 |
|
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'- AGAAAGCAACACCTGGTCCG -3'
(R):5'- CCAAAGAAGGTACCAGCCTATG -3'
Sequencing Primer
(F):5'- TCCGGGCCAAGGAGCAAAG -3'
(R):5'- CACCGACAGAAAGGCATT -3'
|
| Posted On |
2020-09-02 |
Incidental Mutation