Incidental Mutation 'R5799:Pdzd7'
| ID |
447433 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pdzd7
|
| Ensembl Gene |
ENSMUSG00000074818 |
| Gene Name |
PDZ domain containing 7 |
| Synonyms |
EG435601, Pdzk7 |
| MMRRC Submission |
043388-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.247)
|
| Stock # |
R5799 (G1)
|
| Quality Score |
143 |
|
Status
|
Validated
|
| Chromosome |
19 |
| Chromosomal Location |
45015345-45034156 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 45025428 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Proline to Serine
at position 356
(P356S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000133273
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000145391]
[ENSMUST00000169459]
|
| AlphaFold |
E9Q9W7 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000145391
AA Change: P356S
PolyPhen 2
Score 0.063 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000119002
Gene: ENSMUSG00000074818
AA Change: P356S
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
12 |
35 |
N/A |
INTRINSIC |
|
PDZ
|
95 |
167 |
3.51e-19 |
SMART |
|
PDZ
|
220 |
292 |
2.47e-14 |
SMART |
|
low complexity region
|
319 |
344 |
N/A |
INTRINSIC |
|
low complexity region
|
442 |
459 |
N/A |
INTRINSIC |
|
low complexity region
|
521 |
533 |
N/A |
INTRINSIC |
|
low complexity region
|
724 |
744 |
N/A |
INTRINSIC |
|
low complexity region
|
768 |
809 |
N/A |
INTRINSIC |
|
low complexity region
|
812 |
824 |
N/A |
INTRINSIC |
|
PDZ
|
866 |
947 |
1.96e-8 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000169459
AA Change: P356S
PolyPhen 2
Score 0.063 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000133273
Gene: ENSMUSG00000074818
AA Change: P356S
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
12 |
35 |
N/A |
INTRINSIC |
|
PDZ
|
95 |
167 |
3.51e-19 |
SMART |
|
PDZ
|
220 |
292 |
2.47e-14 |
SMART |
|
low complexity region
|
319 |
344 |
N/A |
INTRINSIC |
|
low complexity region
|
442 |
459 |
N/A |
INTRINSIC |
|
low complexity region
|
521 |
533 |
N/A |
INTRINSIC |
|
low complexity region
|
724 |
744 |
N/A |
INTRINSIC |
|
low complexity region
|
768 |
809 |
N/A |
INTRINSIC |
|
low complexity region
|
812 |
824 |
N/A |
INTRINSIC |
|
PDZ
|
866 |
947 |
1.96e-8 |
SMART |
|
| Meta Mutation Damage Score |
0.0729 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.8%
- 10x: 97.5%
- 20x: 95.9%
|
| Validation Efficiency |
89% (51/57) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a ciliary protein homologous to proteins which are mutated in Usher syndrome patients, and mutations and translocations involving this gene have been associated with two types of Usher syndrome. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2010]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit profound deafness due to abnormal outer cochlear hair cell morphology and function. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 51 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| AA986860 |
C |
T |
1: 130,668,908 (GRCm39) |
Q92* |
probably null |
Het |
| Accsl |
T |
C |
2: 93,694,748 (GRCm39) |
|
probably null |
Het |
| Ahnak2 |
T |
C |
12: 112,745,365 (GRCm39) |
|
probably benign |
Het |
| Alcam |
T |
C |
16: 52,130,212 (GRCm39) |
D46G |
probably benign |
Het |
| Asap2 |
T |
C |
12: 21,218,247 (GRCm39) |
S57P |
probably damaging |
Het |
| Atg14 |
A |
T |
14: 47,784,752 (GRCm39) |
V314D |
possibly damaging |
Het |
| C230029F24Rik |
C |
T |
1: 49,377,307 (GRCm39) |
|
noncoding transcript |
Het |
| Calcr |
A |
T |
6: 3,707,592 (GRCm39) |
I236N |
probably benign |
Het |
| Cass4 |
G |
A |
2: 172,258,107 (GRCm39) |
G35E |
probably damaging |
Het |
| Chmp6 |
T |
C |
11: 119,807,517 (GRCm39) |
I120T |
probably benign |
Het |
| Col13a1 |
A |
G |
10: 61,684,919 (GRCm39) |
|
probably benign |
Het |
| Cstdc4 |
T |
A |
16: 36,004,631 (GRCm39) |
M1K |
probably null |
Het |
| Ddhd2 |
T |
A |
8: 26,238,629 (GRCm39) |
L328F |
probably damaging |
Het |
| Defa40 |
T |
A |
8: 21,740,359 (GRCm39) |
|
probably null |
Het |
| Dnmt3l |
A |
G |
10: 77,887,860 (GRCm39) |
D123G |
possibly damaging |
Het |
| Eea1 |
T |
A |
10: 95,838,810 (GRCm39) |
V287E |
possibly damaging |
Het |
| Efcc1 |
A |
G |
6: 87,708,164 (GRCm39) |
N97S |
probably benign |
Het |
| Exd1 |
A |
G |
2: 119,369,262 (GRCm39) |
S118P |
probably benign |
Het |
| Ext2 |
G |
T |
2: 93,642,317 (GRCm39) |
T184K |
probably benign |
Het |
| Fam186a |
G |
A |
15: 99,864,705 (GRCm39) |
Q42* |
probably null |
Het |
| Gbp2 |
A |
T |
3: 142,337,843 (GRCm39) |
I320L |
probably benign |
Het |
| Gramd2a |
G |
A |
9: 59,615,299 (GRCm39) |
G13R |
probably benign |
Het |
| H2-Q5 |
T |
C |
17: 35,613,115 (GRCm39) |
M5T |
unknown |
Het |
| Jak3 |
C |
T |
8: 72,131,344 (GRCm39) |
L70F |
probably damaging |
Het |
| Lhpp |
G |
A |
7: 132,307,364 (GRCm39) |
V254M |
probably damaging |
Het |
| Lig1 |
T |
A |
7: 13,030,184 (GRCm39) |
V387E |
possibly damaging |
Het |
| Lipo3 |
T |
C |
19: 33,755,093 (GRCm39) |
|
probably benign |
Het |
| Lrrc8b |
C |
T |
5: 105,629,208 (GRCm39) |
S518L |
probably benign |
Het |
| Narf |
T |
C |
11: 121,135,480 (GRCm39) |
Y111H |
probably damaging |
Het |
| Ncf4 |
A |
G |
15: 78,135,177 (GRCm39) |
K78R |
probably benign |
Het |
| Nrap |
A |
T |
19: 56,330,601 (GRCm39) |
C1118* |
probably null |
Het |
| Nubp2 |
A |
G |
17: 25,104,772 (GRCm39) |
V23A |
probably damaging |
Het |
| Or4l1 |
A |
T |
14: 50,166,497 (GRCm39) |
F168Y |
probably damaging |
Het |
| Or6c219 |
A |
T |
10: 129,781,780 (GRCm39) |
D50E |
possibly damaging |
Het |
| Or8g55 |
T |
C |
9: 39,785,392 (GRCm39) |
S274P |
possibly damaging |
Het |
| Rttn |
T |
C |
18: 89,056,070 (GRCm39) |
V984A |
probably damaging |
Het |
| Ryr3 |
A |
G |
2: 112,516,925 (GRCm39) |
S3334P |
probably damaging |
Het |
| Senp7 |
G |
A |
16: 55,959,468 (GRCm39) |
|
probably null |
Het |
| Slc25a3 |
A |
C |
10: 90,957,903 (GRCm39) |
Y50D |
probably benign |
Het |
| Slc35e2 |
C |
T |
4: 155,694,483 (GRCm39) |
P10L |
probably benign |
Het |
| Slc38a2 |
A |
T |
15: 96,592,970 (GRCm39) |
S163T |
probably benign |
Het |
| Sp110 |
A |
C |
1: 85,505,050 (GRCm39) |
F434C |
probably benign |
Het |
| Stam2 |
A |
T |
2: 52,610,922 (GRCm39) |
C4* |
probably null |
Het |
| Taf1a |
A |
G |
1: 183,177,272 (GRCm39) |
D50G |
possibly damaging |
Het |
| Taf6l |
A |
T |
19: 8,759,995 (GRCm39) |
Y106N |
possibly damaging |
Het |
| Taf7l2 |
T |
C |
10: 115,948,674 (GRCm39) |
E284G |
probably damaging |
Het |
| Tbx20 |
G |
A |
9: 24,636,816 (GRCm39) |
Q424* |
probably null |
Het |
| Tex10 |
A |
G |
4: 48,433,295 (GRCm39) |
V829A |
possibly damaging |
Het |
| Tgfbr3 |
T |
C |
5: 107,257,474 (GRCm39) |
|
probably benign |
Het |
| Tnfsf10 |
G |
T |
3: 27,389,742 (GRCm39) |
V268F |
probably damaging |
Het |
| Trrap |
A |
G |
5: 144,767,755 (GRCm39) |
T2571A |
probably benign |
Het |
|
| Other mutations in Pdzd7 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02237:Pdzd7
|
APN |
19 |
45,028,697 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02729:Pdzd7
|
APN |
19 |
45,034,082 (GRCm39) |
start codon destroyed |
probably null |
0.89 |
|
F6893:Pdzd7
|
UTSW |
19 |
45,025,173 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R0211:Pdzd7
|
UTSW |
19 |
45,022,106 (GRCm39) |
missense |
possibly damaging |
0.72 |
|
R0211:Pdzd7
|
UTSW |
19 |
45,022,106 (GRCm39) |
missense |
possibly damaging |
0.72 |
|
R0295:Pdzd7
|
UTSW |
19 |
45,025,511 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0523:Pdzd7
|
UTSW |
19 |
45,024,529 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0645:Pdzd7
|
UTSW |
19 |
45,033,914 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R0731:Pdzd7
|
UTSW |
19 |
45,017,744 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1265:Pdzd7
|
UTSW |
19 |
45,029,124 (GRCm39) |
missense |
possibly damaging |
0.64 |
|
R1711:Pdzd7
|
UTSW |
19 |
45,033,950 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
R1789:Pdzd7
|
UTSW |
19 |
45,027,667 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1817:Pdzd7
|
UTSW |
19 |
45,024,615 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R2162:Pdzd7
|
UTSW |
19 |
45,024,494 (GRCm39) |
critical splice donor site |
probably null |
|
|
R2851:Pdzd7
|
UTSW |
19 |
45,016,113 (GRCm39) |
missense |
probably benign |
|
|
R2852:Pdzd7
|
UTSW |
19 |
45,016,113 (GRCm39) |
missense |
probably benign |
|
|
R2939:Pdzd7
|
UTSW |
19 |
45,033,862 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R3832:Pdzd7
|
UTSW |
19 |
45,028,693 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3874:Pdzd7
|
UTSW |
19 |
45,034,067 (GRCm39) |
missense |
probably benign |
|
|
R4416:Pdzd7
|
UTSW |
19 |
45,029,019 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4668:Pdzd7
|
UTSW |
19 |
45,034,126 (GRCm39) |
start gained |
probably benign |
|
|
R5133:Pdzd7
|
UTSW |
19 |
45,016,868 (GRCm39) |
missense |
possibly damaging |
0.51 |
|
R5327:Pdzd7
|
UTSW |
19 |
45,017,216 (GRCm39) |
missense |
probably benign |
|
|
R5458:Pdzd7
|
UTSW |
19 |
45,016,230 (GRCm39) |
missense |
probably benign |
|
|
R5480:Pdzd7
|
UTSW |
19 |
45,027,724 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
R5644:Pdzd7
|
UTSW |
19 |
45,028,619 (GRCm39) |
missense |
probably benign |
0.16 |
|
R5812:Pdzd7
|
UTSW |
19 |
45,025,310 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5873:Pdzd7
|
UTSW |
19 |
45,016,388 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6669:Pdzd7
|
UTSW |
19 |
45,025,190 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R6750:Pdzd7
|
UTSW |
19 |
45,016,187 (GRCm39) |
missense |
probably benign |
|
|
R7128:Pdzd7
|
UTSW |
19 |
45,016,388 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7183:Pdzd7
|
UTSW |
19 |
45,025,553 (GRCm39) |
missense |
probably benign |
|
|
R7378:Pdzd7
|
UTSW |
19 |
45,034,045 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7395:Pdzd7
|
UTSW |
19 |
45,025,450 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7426:Pdzd7
|
UTSW |
19 |
45,022,086 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
R7790:Pdzd7
|
UTSW |
19 |
45,033,962 (GRCm39) |
nonsense |
probably null |
|
|
R7792:Pdzd7
|
UTSW |
19 |
45,028,657 (GRCm39) |
missense |
possibly damaging |
0.54 |
|
R7829:Pdzd7
|
UTSW |
19 |
45,027,678 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7883:Pdzd7
|
UTSW |
19 |
45,018,679 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7969:Pdzd7
|
UTSW |
19 |
45,024,664 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8387:Pdzd7
|
UTSW |
19 |
45,018,490 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8720:Pdzd7
|
UTSW |
19 |
45,024,667 (GRCm39) |
missense |
probably benign |
0.27 |
|
R8830:Pdzd7
|
UTSW |
19 |
45,021,512 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9282:Pdzd7
|
UTSW |
19 |
45,028,622 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R9417:Pdzd7
|
UTSW |
19 |
45,034,022 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9453:Pdzd7
|
UTSW |
19 |
45,016,056 (GRCm39) |
makesense |
probably null |
|
|
| Predicted Primers |
PCR Primer
(F):5'- TGCAGAATCAAGGTGTCGGG -3'
(R):5'- TAAGTGGCAAACCCAGTAGCTG -3'
Sequencing Primer
(F):5'- TCGGGTAGAAGAGGGACCATCC -3'
(R):5'- TCATCGGTGAGCACAGCACAG -3'
|
| Posted On |
2016-12-15 |
Incidental Mutation