Incidental Mutation 'R0972:Pdzrn4'
| ID |
82900 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pdzrn4
|
| Ensembl Gene |
ENSMUSG00000036218 |
| Gene Name |
PDZ domain containing RING finger 4 |
| Synonyms |
1110017D07Rik, SAMCAP3L, LNX4 |
| MMRRC Submission |
039101-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.207)
|
| Stock # |
R0972 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
15 |
| Chromosomal Location |
92294762-92669700 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 92655592 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 495
(D495G)
|
| 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: D256G
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000040456
Gene: ENSMUSG00000036218
AA Change: D256G
| 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: D495G
PolyPhen 2
Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
|
| SMART Domains |
Protein: ENSMUSP00000133159
Gene: ENSMUSG00000036218
AA Change: D495G
| 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 |
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.5%
- 3x: 99.0%
- 10x: 97.8%
- 20x: 96.3%
|
| Validation Efficiency |
97% (72/74) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 72 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam25 |
G |
A |
8: 41,208,168 (GRCm39) |
R478Q |
probably damaging |
Het |
| Adgrf5 |
A |
T |
17: 43,761,874 (GRCm39) |
S1190C |
probably damaging |
Het |
| Akr1a1 |
T |
C |
4: 116,497,204 (GRCm39) |
|
probably null |
Het |
| Bco2 |
A |
T |
9: 50,447,615 (GRCm39) |
D369E |
probably benign |
Het |
| Blm |
A |
T |
7: 80,163,118 (GRCm39) |
S78T |
probably benign |
Het |
| Brsk2 |
C |
G |
7: 141,547,441 (GRCm39) |
|
probably benign |
Het |
| Cct8 |
A |
G |
16: 87,283,508 (GRCm39) |
V269A |
possibly damaging |
Het |
| Cdh12 |
A |
T |
15: 21,237,850 (GRCm39) |
Q28H |
probably benign |
Het |
| Cep290 |
A |
G |
10: 100,354,624 (GRCm39) |
T896A |
probably benign |
Het |
| Chrm2 |
T |
A |
6: 36,501,401 (GRCm39) |
N419K |
possibly damaging |
Het |
| Clasp2 |
A |
T |
9: 113,676,773 (GRCm39) |
H168L |
possibly damaging |
Het |
| Cog3 |
A |
T |
14: 75,954,610 (GRCm39) |
M643K |
probably benign |
Het |
| Col6a5 |
A |
G |
9: 105,817,484 (GRCm39) |
S276P |
unknown |
Het |
| Colgalt2 |
T |
C |
1: 152,347,495 (GRCm39) |
V143A |
probably damaging |
Het |
| Cul9 |
C |
G |
17: 46,833,101 (GRCm39) |
A1326P |
probably damaging |
Het |
| Cwc27 |
C |
A |
13: 104,797,865 (GRCm39) |
E365* |
probably null |
Het |
| Ddx56 |
A |
T |
11: 6,217,718 (GRCm39) |
M1K |
probably null |
Het |
| Dnah3 |
C |
T |
7: 119,634,563 (GRCm39) |
|
probably null |
Het |
| Dnah6 |
T |
C |
6: 73,136,176 (GRCm39) |
T988A |
possibly damaging |
Het |
| Esp15 |
T |
A |
17: 39,953,557 (GRCm39) |
F15I |
possibly damaging |
Het |
| Fam237b |
T |
A |
5: 5,625,512 (GRCm39) |
D69E |
probably benign |
Het |
| Fbh1 |
C |
T |
2: 11,768,899 (GRCm39) |
|
probably benign |
Het |
| Gucy1b2 |
A |
T |
14: 62,646,127 (GRCm39) |
I572N |
possibly damaging |
Het |
| Gucy1b2 |
T |
C |
14: 62,651,818 (GRCm39) |
I393V |
possibly damaging |
Het |
| H1f6 |
G |
T |
13: 23,880,307 (GRCm39) |
K153N |
possibly damaging |
Het |
| Herc1 |
C |
A |
9: 66,279,427 (GRCm39) |
R112S |
probably damaging |
Het |
| Itga7 |
G |
A |
10: 128,778,746 (GRCm39) |
R291H |
probably damaging |
Het |
| Jag1 |
A |
G |
2: 136,925,371 (GRCm39) |
L1077S |
possibly damaging |
Het |
| Klb |
G |
C |
5: 65,506,089 (GRCm39) |
R112P |
possibly damaging |
Het |
| Klrc2 |
T |
C |
6: 129,635,726 (GRCm39) |
Y134C |
probably damaging |
Het |
| Map2k2 |
C |
A |
10: 80,955,482 (GRCm39) |
D67E |
probably benign |
Het |
| Mest |
G |
A |
6: 30,740,683 (GRCm39) |
W14* |
probably null |
Het |
| Mier2 |
A |
G |
10: 79,380,455 (GRCm39) |
|
probably benign |
Het |
| Mog |
A |
G |
17: 37,328,424 (GRCm39) |
V169A |
probably benign |
Het |
| Mov10l1 |
T |
C |
15: 88,905,482 (GRCm39) |
V879A |
probably damaging |
Het |
| Mrgpra9 |
A |
G |
7: 46,885,203 (GRCm39) |
S155P |
probably damaging |
Het |
| Mtmr10 |
A |
G |
7: 63,976,457 (GRCm39) |
D418G |
probably damaging |
Het |
| Mtpn |
T |
C |
6: 35,498,911 (GRCm39) |
D58G |
probably null |
Het |
| Myh8 |
A |
G |
11: 67,188,585 (GRCm39) |
R1056G |
probably damaging |
Het |
| Nek1 |
T |
A |
8: 61,542,465 (GRCm39) |
|
probably null |
Het |
| Or4k38 |
T |
C |
2: 111,165,763 (GRCm39) |
Y220C |
probably benign |
Het |
| Or5al7 |
A |
C |
2: 85,992,648 (GRCm39) |
L215R |
possibly damaging |
Het |
| Or8b36 |
T |
A |
9: 37,937,856 (GRCm39) |
F251L |
possibly damaging |
Het |
| Pcnx1 |
G |
A |
12: 81,960,186 (GRCm39) |
D181N |
probably damaging |
Het |
| Plppr3 |
A |
G |
10: 79,700,920 (GRCm39) |
S641P |
probably damaging |
Het |
| Pramel11 |
T |
A |
4: 143,623,533 (GRCm39) |
T214S |
probably benign |
Het |
| Prelp |
A |
T |
1: 133,842,414 (GRCm39) |
Y244N |
probably damaging |
Het |
| Prg2 |
C |
A |
2: 84,812,393 (GRCm39) |
N34K |
probably benign |
Het |
| Ptp4a1 |
A |
G |
1: 30,984,080 (GRCm39) |
V46A |
possibly damaging |
Het |
| Rpl6 |
A |
G |
5: 121,346,565 (GRCm39) |
D222G |
possibly damaging |
Het |
| Rtp1 |
A |
T |
16: 23,250,058 (GRCm39) |
D141V |
probably damaging |
Het |
| Sacs |
T |
A |
14: 61,449,412 (GRCm39) |
Y3819* |
probably null |
Het |
| Serinc5 |
A |
G |
13: 92,825,128 (GRCm39) |
T186A |
probably benign |
Het |
| Slc15a2 |
A |
G |
16: 36,577,501 (GRCm39) |
S422P |
probably benign |
Het |
| Slc2a8 |
A |
T |
2: 32,865,379 (GRCm39) |
V366D |
probably benign |
Het |
| Smarca1 |
T |
C |
X: 46,938,864 (GRCm39) |
R715G |
possibly damaging |
Het |
| Spdef |
C |
T |
17: 27,933,997 (GRCm39) |
A275T |
probably damaging |
Het |
| Tcf21 |
T |
C |
10: 22,695,621 (GRCm39) |
K61R |
probably benign |
Het |
| Tep1 |
A |
G |
14: 51,061,753 (GRCm39) |
|
probably benign |
Het |
| Thada |
G |
A |
17: 84,736,490 (GRCm39) |
|
probably benign |
Het |
| Thap11 |
T |
A |
8: 106,582,810 (GRCm39) |
I273N |
probably damaging |
Het |
| Tmem129 |
T |
A |
5: 33,812,112 (GRCm39) |
E262V |
possibly damaging |
Het |
| Tnxb |
A |
G |
17: 34,904,117 (GRCm39) |
Y1086C |
probably damaging |
Het |
| Togaram2 |
A |
G |
17: 72,014,309 (GRCm39) |
Y619C |
probably damaging |
Het |
| Top1 |
C |
T |
2: 160,562,945 (GRCm39) |
A717V |
probably damaging |
Het |
| Trpm7 |
G |
A |
2: 126,646,969 (GRCm39) |
P1507S |
probably benign |
Het |
| Ubr2 |
A |
T |
17: 47,245,187 (GRCm39) |
|
probably null |
Het |
| Usp30 |
T |
C |
5: 114,249,925 (GRCm39) |
|
probably benign |
Het |
| Vmn1r3 |
T |
A |
4: 3,185,125 (GRCm39) |
I61F |
probably damaging |
Het |
| Zbtb22 |
C |
T |
17: 34,136,326 (GRCm39) |
T157I |
possibly damaging |
Het |
| Zfp677 |
A |
T |
17: 21,618,572 (GRCm39) |
H543L |
probably damaging |
Het |
| Zranb3 |
G |
T |
1: 127,884,383 (GRCm39) |
P1001Q |
probably damaging |
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 |
|
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 |
|
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'- GCTCTGAAGAGAATCGCCGACAAAG -3'
(R):5'- ACGTTACCTCATGGACAATGGTTGC -3'
Sequencing Primer
(F):5'- CGACAAAGAGAGTTGGTTGG -3'
(R):5'- TTCAGGCTTTCCAAGCAGG -3'
|
| Posted On |
2013-11-08 |
Incidental Mutation