Incidental Mutation 'R6903:Adnp2'
ID |
538666 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Adnp2
|
Ensembl Gene |
ENSMUSG00000053950 |
Gene Name |
ADNP homeobox 2 |
Synonyms |
8430420L05Rik, Zfp508 |
MMRRC Submission |
044996-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R6903 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
18 |
Chromosomal Location |
80169526-80194697 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 80173305 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Asparagine to Serine
at position 368
(N368S)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000068560
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000066743]
|
AlphaFold |
Q8CHC8 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000066743
AA Change: N368S
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000068560 Gene: ENSMUSG00000053950 AA Change: N368S
Domain | Start | End | E-Value | Type |
ZnF_C2H2
|
73 |
96 |
4.57e0 |
SMART |
ZnF_C2H2
|
106 |
128 |
1.06e2 |
SMART |
ZnF_C2H2
|
155 |
178 |
5.48e0 |
SMART |
ZnF_C2H2
|
215 |
240 |
7.29e0 |
SMART |
low complexity region
|
277 |
290 |
N/A |
INTRINSIC |
low complexity region
|
298 |
318 |
N/A |
INTRINSIC |
low complexity region
|
333 |
355 |
N/A |
INTRINSIC |
low complexity region
|
545 |
567 |
N/A |
INTRINSIC |
low complexity region
|
625 |
648 |
N/A |
INTRINSIC |
low complexity region
|
656 |
674 |
N/A |
INTRINSIC |
ZnF_C2H2
|
696 |
718 |
9.96e0 |
SMART |
ZnF_C2H2
|
724 |
746 |
4.99e1 |
SMART |
low complexity region
|
747 |
761 |
N/A |
INTRINSIC |
ZnF_C2H2
|
777 |
798 |
1.93e2 |
SMART |
ZnF_C2H2
|
800 |
823 |
4.34e0 |
SMART |
ZnF_C2H2
|
905 |
928 |
5.81e-2 |
SMART |
HOX
|
1073 |
1135 |
3.25e-4 |
SMART |
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.1%
- 20x: 97.3%
|
Validation Efficiency |
100% (46/46) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 46 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca1 |
A |
T |
4: 53,143,952 (GRCm39) |
L15Q |
probably benign |
Het |
Acsf2 |
T |
C |
11: 94,450,417 (GRCm39) |
M497V |
probably benign |
Het |
BC034090 |
T |
C |
1: 155,097,131 (GRCm39) |
T656A |
probably benign |
Het |
Bsph1 |
A |
G |
7: 13,192,183 (GRCm39) |
Y26C |
probably damaging |
Het |
Cct7 |
T |
C |
6: 85,443,675 (GRCm39) |
F306L |
probably benign |
Het |
Cd109 |
A |
G |
9: 78,543,885 (GRCm39) |
Q143R |
probably damaging |
Het |
Cfap46 |
A |
T |
7: 139,234,477 (GRCm39) |
|
probably null |
Het |
Col3a1 |
A |
G |
1: 45,371,148 (GRCm39) |
N436D |
probably damaging |
Het |
Col6a3 |
T |
C |
1: 90,721,929 (GRCm39) |
E1498G |
probably damaging |
Het |
Cyp2u1 |
T |
C |
3: 131,096,424 (GRCm39) |
D118G |
probably benign |
Het |
Dek |
A |
G |
13: 47,251,663 (GRCm39) |
S51P |
possibly damaging |
Het |
Dock6 |
C |
T |
9: 21,720,860 (GRCm39) |
G1746D |
probably damaging |
Het |
Dscam |
T |
A |
16: 96,621,988 (GRCm39) |
N488Y |
probably damaging |
Het |
Ebpl |
G |
T |
14: 61,597,693 (GRCm39) |
Y49* |
probably null |
Het |
Eefsec |
C |
T |
6: 88,423,265 (GRCm39) |
G66D |
probably benign |
Het |
Epha6 |
T |
A |
16: 60,346,825 (GRCm39) |
Y146F |
probably benign |
Het |
Fcgbpl1 |
C |
T |
7: 27,836,638 (GRCm39) |
R186C |
probably damaging |
Het |
Frmd4a |
A |
G |
2: 4,591,267 (GRCm39) |
R96G |
probably damaging |
Het |
Gm5814 |
A |
G |
17: 47,721,352 (GRCm39) |
|
probably benign |
Het |
Hspa13 |
C |
G |
16: 75,554,872 (GRCm39) |
V405L |
probably damaging |
Het |
Iqgap2 |
A |
G |
13: 95,797,565 (GRCm39) |
V1079A |
probably damaging |
Het |
Kcnj9 |
C |
A |
1: 172,153,623 (GRCm39) |
R167L |
probably damaging |
Het |
Kdm1b |
T |
A |
13: 47,227,880 (GRCm39) |
D620E |
probably benign |
Het |
Kif23 |
T |
C |
9: 61,834,436 (GRCm39) |
R442G |
possibly damaging |
Het |
Nectin1 |
C |
A |
9: 43,703,179 (GRCm39) |
P146T |
possibly damaging |
Het |
Noc4l |
A |
G |
5: 110,797,461 (GRCm39) |
I391T |
probably damaging |
Het |
Npr1 |
C |
A |
3: 90,362,452 (GRCm39) |
R956L |
possibly damaging |
Het |
Or11g7 |
T |
A |
14: 50,691,412 (GRCm39) |
M301K |
possibly damaging |
Het |
Or11j4 |
T |
A |
14: 50,631,089 (GRCm39) |
M292K |
possibly damaging |
Het |
Pcdhgb2 |
T |
C |
18: 37,825,223 (GRCm39) |
V738A |
possibly damaging |
Het |
Ptpn20 |
A |
G |
14: 33,336,461 (GRCm39) |
E100G |
probably damaging |
Het |
Rgs10 |
A |
G |
7: 127,990,797 (GRCm39) |
F97S |
probably damaging |
Het |
Shisa6 |
T |
C |
11: 66,265,982 (GRCm39) |
|
probably null |
Het |
Shld1 |
A |
T |
2: 132,592,564 (GRCm39) |
K204* |
probably null |
Het |
Sirpb1a |
T |
C |
3: 15,481,984 (GRCm39) |
T115A |
probably damaging |
Het |
Supv3l1 |
A |
G |
10: 62,277,016 (GRCm39) |
C251R |
probably damaging |
Het |
Svopl |
T |
C |
6: 37,998,543 (GRCm39) |
S244G |
probably benign |
Het |
Tes |
T |
C |
6: 17,099,862 (GRCm39) |
Y286H |
probably damaging |
Het |
Tnfrsf22 |
G |
A |
7: 143,193,641 (GRCm39) |
|
probably benign |
Het |
Vmn1r185 |
A |
G |
7: 26,311,160 (GRCm39) |
I115T |
probably damaging |
Het |
Vmn2r-ps117 |
A |
G |
17: 19,058,552 (GRCm39) |
T703A |
possibly damaging |
Het |
Zan |
T |
A |
5: 137,454,566 (GRCm39) |
I1413L |
unknown |
Het |
Zc3h12d |
G |
T |
10: 7,743,425 (GRCm39) |
M398I |
probably benign |
Het |
Zfp219 |
G |
A |
14: 52,244,118 (GRCm39) |
T642M |
probably benign |
Het |
Zfp646 |
G |
A |
7: 127,479,892 (GRCm39) |
E690K |
possibly damaging |
Het |
Zfr |
T |
A |
15: 12,136,541 (GRCm39) |
V66D |
unknown |
Het |
|
Other mutations in Adnp2 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00546:Adnp2
|
APN |
18 |
80,172,082 (GRCm39) |
missense |
probably benign |
0.00 |
IGL00730:Adnp2
|
APN |
18 |
80,171,247 (GRCm39) |
missense |
probably benign |
|
IGL01615:Adnp2
|
APN |
18 |
80,171,692 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01681:Adnp2
|
APN |
18 |
80,171,103 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02549:Adnp2
|
APN |
18 |
80,172,333 (GRCm39) |
missense |
probably damaging |
1.00 |
R0003:Adnp2
|
UTSW |
18 |
80,174,205 (GRCm39) |
missense |
probably damaging |
1.00 |
R0003:Adnp2
|
UTSW |
18 |
80,174,205 (GRCm39) |
missense |
probably damaging |
1.00 |
R0013:Adnp2
|
UTSW |
18 |
80,172,960 (GRCm39) |
missense |
probably damaging |
0.99 |
R0013:Adnp2
|
UTSW |
18 |
80,172,960 (GRCm39) |
missense |
probably damaging |
0.99 |
R0325:Adnp2
|
UTSW |
18 |
80,173,868 (GRCm39) |
missense |
probably benign |
0.06 |
R0478:Adnp2
|
UTSW |
18 |
80,172,549 (GRCm39) |
missense |
probably benign |
0.31 |
R0545:Adnp2
|
UTSW |
18 |
80,172,616 (GRCm39) |
missense |
probably benign |
0.31 |
R0788:Adnp2
|
UTSW |
18 |
80,173,219 (GRCm39) |
missense |
probably benign |
|
R1756:Adnp2
|
UTSW |
18 |
80,170,912 (GRCm39) |
makesense |
probably null |
|
R2043:Adnp2
|
UTSW |
18 |
80,171,541 (GRCm39) |
missense |
probably damaging |
1.00 |
R2121:Adnp2
|
UTSW |
18 |
80,172,385 (GRCm39) |
missense |
probably benign |
0.00 |
R2260:Adnp2
|
UTSW |
18 |
80,171,664 (GRCm39) |
missense |
probably benign |
0.01 |
R2374:Adnp2
|
UTSW |
18 |
80,174,202 (GRCm39) |
missense |
probably damaging |
1.00 |
R3416:Adnp2
|
UTSW |
18 |
80,171,373 (GRCm39) |
missense |
possibly damaging |
0.55 |
R3607:Adnp2
|
UTSW |
18 |
80,172,284 (GRCm39) |
missense |
probably damaging |
1.00 |
R4012:Adnp2
|
UTSW |
18 |
80,174,036 (GRCm39) |
missense |
probably benign |
0.01 |
R4260:Adnp2
|
UTSW |
18 |
80,180,742 (GRCm39) |
missense |
possibly damaging |
0.85 |
R4588:Adnp2
|
UTSW |
18 |
80,171,863 (GRCm39) |
missense |
probably benign |
0.22 |
R5158:Adnp2
|
UTSW |
18 |
80,180,758 (GRCm39) |
missense |
probably damaging |
0.99 |
R5652:Adnp2
|
UTSW |
18 |
80,174,065 (GRCm39) |
missense |
probably damaging |
1.00 |
R5717:Adnp2
|
UTSW |
18 |
80,171,479 (GRCm39) |
missense |
probably benign |
0.13 |
R6743:Adnp2
|
UTSW |
18 |
80,171,274 (GRCm39) |
missense |
probably benign |
0.00 |
R6786:Adnp2
|
UTSW |
18 |
80,172,960 (GRCm39) |
missense |
probably benign |
0.03 |
R7105:Adnp2
|
UTSW |
18 |
80,171,366 (GRCm39) |
missense |
possibly damaging |
0.94 |
R7507:Adnp2
|
UTSW |
18 |
80,174,068 (GRCm39) |
missense |
probably benign |
0.22 |
R7620:Adnp2
|
UTSW |
18 |
80,173,702 (GRCm39) |
missense |
probably damaging |
1.00 |
R7914:Adnp2
|
UTSW |
18 |
80,174,056 (GRCm39) |
missense |
probably damaging |
0.96 |
R7991:Adnp2
|
UTSW |
18 |
80,172,537 (GRCm39) |
missense |
probably damaging |
0.97 |
R8290:Adnp2
|
UTSW |
18 |
80,185,948 (GRCm39) |
missense |
probably damaging |
1.00 |
R8366:Adnp2
|
UTSW |
18 |
80,173,725 (GRCm39) |
missense |
probably damaging |
1.00 |
R8712:Adnp2
|
UTSW |
18 |
80,174,185 (GRCm39) |
missense |
probably damaging |
1.00 |
R8742:Adnp2
|
UTSW |
18 |
80,171,556 (GRCm39) |
missense |
probably damaging |
1.00 |
R8932:Adnp2
|
UTSW |
18 |
80,185,893 (GRCm39) |
missense |
probably damaging |
1.00 |
R9108:Adnp2
|
UTSW |
18 |
80,185,925 (GRCm39) |
missense |
probably damaging |
1.00 |
R9163:Adnp2
|
UTSW |
18 |
80,172,200 (GRCm39) |
missense |
possibly damaging |
0.82 |
R9378:Adnp2
|
UTSW |
18 |
80,172,637 (GRCm39) |
missense |
probably benign |
0.00 |
R9567:Adnp2
|
UTSW |
18 |
80,174,133 (GRCm39) |
missense |
probably damaging |
1.00 |
R9664:Adnp2
|
UTSW |
18 |
80,185,937 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Predicted Primers |
PCR Primer
(F):5'- GTTAACAGAGGGACCCATAGGC -3'
(R):5'- GTCAAAGCTCTGGCACTGTG -3'
Sequencing Primer
(F):5'- TAGGCAAGACAGCAGGCCC -3'
(R):5'- AGTCAGTGACTGTGACCCCAG -3'
|
Posted On |
2018-11-06 |