Incidental Mutation 'R0004:Foxp2'
ID |
32380 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Foxp2
|
Ensembl Gene |
ENSMUSG00000029563 |
Gene Name |
forkhead box P2 |
Synonyms |
D0Kist7, 2810043D05Rik |
MMRRC Submission |
038300-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R0004 (G1)
|
Quality Score |
225 |
Status
|
Validated
(trace)
|
Chromosome |
6 |
Chromosomal Location |
14901348-15441976 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 15197095 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Alanine
at position 45
(T45A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000111129
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000031545]
[ENSMUST00000115469]
[ENSMUST00000115470]
[ENSMUST00000115472]
[ENSMUST00000115474]
[ENSMUST00000115477]
[ENSMUST00000128567]
[ENSMUST00000137628]
[ENSMUST00000140557]
[ENSMUST00000131414]
[ENSMUST00000154448]
|
AlphaFold |
P58463 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000031545
AA Change: T46A
PolyPhen 2
Score 0.154 (Sensitivity: 0.92; Specificity: 0.87)
|
SMART Domains |
Protein: ENSMUSP00000031545 Gene: ENSMUSG00000029563 AA Change: T46A
Domain | Start | End | E-Value | Type |
low complexity region
|
30 |
42 |
N/A |
INTRINSIC |
low complexity region
|
49 |
69 |
N/A |
INTRINSIC |
coiled coil region
|
140 |
215 |
N/A |
INTRINSIC |
low complexity region
|
291 |
304 |
N/A |
INTRINSIC |
ZnF_C2H2
|
345 |
370 |
3.02e0 |
SMART |
low complexity region
|
437 |
458 |
N/A |
INTRINSIC |
FH
|
501 |
582 |
7.5e-37 |
SMART |
low complexity region
|
605 |
624 |
N/A |
INTRINSIC |
low complexity region
|
697 |
714 |
N/A |
INTRINSIC |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000115469
AA Change: T45A
PolyPhen 2
Score 0.678 (Sensitivity: 0.86; Specificity: 0.92)
|
SMART Domains |
Protein: ENSMUSP00000111129 Gene: ENSMUSG00000029563 AA Change: T45A
Domain | Start | End | E-Value | Type |
low complexity region
|
29 |
41 |
N/A |
INTRINSIC |
low complexity region
|
48 |
68 |
N/A |
INTRINSIC |
coiled coil region
|
139 |
214 |
N/A |
INTRINSIC |
low complexity region
|
290 |
303 |
N/A |
INTRINSIC |
ZnF_C2H2
|
344 |
369 |
3.02e0 |
SMART |
low complexity region
|
411 |
420 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000115470
AA Change: T46A
PolyPhen 2
Score 0.019 (Sensitivity: 0.95; Specificity: 0.80)
|
SMART Domains |
Protein: ENSMUSP00000111130 Gene: ENSMUSG00000029563 AA Change: T46A
Domain | Start | End | E-Value | Type |
low complexity region
|
30 |
42 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000115472
AA Change: T46A
PolyPhen 2
Score 0.154 (Sensitivity: 0.92; Specificity: 0.87)
|
SMART Domains |
Protein: ENSMUSP00000111132 Gene: ENSMUSG00000029563 AA Change: T46A
Domain | Start | End | E-Value | Type |
low complexity region
|
30 |
42 |
N/A |
INTRINSIC |
low complexity region
|
49 |
69 |
N/A |
INTRINSIC |
coiled coil region
|
116 |
194 |
N/A |
INTRINSIC |
low complexity region
|
270 |
283 |
N/A |
INTRINSIC |
ZnF_C2H2
|
324 |
349 |
3.02e0 |
SMART |
low complexity region
|
416 |
437 |
N/A |
INTRINSIC |
FH
|
480 |
561 |
7.5e-37 |
SMART |
low complexity region
|
584 |
603 |
N/A |
INTRINSIC |
low complexity region
|
676 |
693 |
N/A |
INTRINSIC |
|
Predicted Effect |
unknown
Transcript: ENSMUST00000115474
AA Change: T46A
|
SMART Domains |
Protein: ENSMUSP00000111134 Gene: ENSMUSG00000029563 AA Change: T46A
Domain | Start | End | E-Value | Type |
low complexity region
|
30 |
42 |
N/A |
INTRINSIC |
low complexity region
|
49 |
69 |
N/A |
INTRINSIC |
coiled coil region
|
165 |
240 |
N/A |
INTRINSIC |
low complexity region
|
316 |
329 |
N/A |
INTRINSIC |
ZnF_C2H2
|
370 |
395 |
3.02e0 |
SMART |
low complexity region
|
462 |
483 |
N/A |
INTRINSIC |
FH
|
526 |
607 |
7.5e-37 |
SMART |
low complexity region
|
630 |
649 |
N/A |
INTRINSIC |
low complexity region
|
722 |
739 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000115477
AA Change: T46A
PolyPhen 2
Score 0.154 (Sensitivity: 0.92; Specificity: 0.87)
|
SMART Domains |
Protein: ENSMUSP00000111137 Gene: ENSMUSG00000029563 AA Change: T46A
Domain | Start | End | E-Value | Type |
low complexity region
|
30 |
42 |
N/A |
INTRINSIC |
low complexity region
|
49 |
69 |
N/A |
INTRINSIC |
coiled coil region
|
140 |
215 |
N/A |
INTRINSIC |
low complexity region
|
291 |
304 |
N/A |
INTRINSIC |
ZnF_C2H2
|
345 |
370 |
3.02e0 |
SMART |
low complexity region
|
437 |
458 |
N/A |
INTRINSIC |
FH
|
501 |
582 |
7.5e-37 |
SMART |
low complexity region
|
605 |
624 |
N/A |
INTRINSIC |
low complexity region
|
697 |
714 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000128567
AA Change: T46A
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
SMART Domains |
Protein: ENSMUSP00000123067 Gene: ENSMUSG00000029563 AA Change: T46A
Domain | Start | End | E-Value | Type |
low complexity region
|
30 |
42 |
N/A |
INTRINSIC |
low complexity region
|
49 |
69 |
N/A |
INTRINSIC |
|
Predicted Effect |
unknown
Transcript: ENSMUST00000137628
AA Change: T46A
|
SMART Domains |
Protein: ENSMUSP00000116650 Gene: ENSMUSG00000029563 AA Change: T46A
Domain | Start | End | E-Value | Type |
low complexity region
|
30 |
42 |
N/A |
INTRINSIC |
low complexity region
|
49 |
95 |
N/A |
INTRINSIC |
low complexity region
|
146 |
159 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000140557
AA Change: T46A
PolyPhen 2
Score 0.136 (Sensitivity: 0.92; Specificity: 0.86)
|
SMART Domains |
Protein: ENSMUSP00000121503 Gene: ENSMUSG00000029563 AA Change: T46A
Domain | Start | End | E-Value | Type |
low complexity region
|
30 |
42 |
N/A |
INTRINSIC |
low complexity region
|
49 |
69 |
N/A |
INTRINSIC |
low complexity region
|
95 |
133 |
N/A |
INTRINSIC |
coiled coil region
|
146 |
221 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000131414
AA Change: T46A
PolyPhen 2
Score 0.268 (Sensitivity: 0.91; Specificity: 0.88)
|
SMART Domains |
Protein: ENSMUSP00000123007 Gene: ENSMUSG00000029563 AA Change: T46A
Domain | Start | End | E-Value | Type |
low complexity region
|
30 |
42 |
N/A |
INTRINSIC |
low complexity region
|
49 |
69 |
N/A |
INTRINSIC |
coiled coil region
|
165 |
240 |
N/A |
INTRINSIC |
low complexity region
|
316 |
329 |
N/A |
INTRINSIC |
ZnF_C2H2
|
370 |
395 |
3.02e0 |
SMART |
low complexity region
|
437 |
446 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000138273
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000151060
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000156883
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000151301
|
SMART Domains |
Protein: ENSMUSP00000114735 Gene: ENSMUSG00000029563
Domain | Start | End | E-Value | Type |
low complexity region
|
29 |
41 |
N/A |
INTRINSIC |
low complexity region
|
48 |
68 |
N/A |
INTRINSIC |
coiled coil region
|
139 |
214 |
N/A |
INTRINSIC |
low complexity region
|
290 |
303 |
N/A |
INTRINSIC |
Blast:ZnF_C2H2
|
344 |
363 |
8e-8 |
BLAST |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000154448
|
Meta Mutation Damage Score |
0.0586 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.1%
- 20x: 95.1%
|
Validation Efficiency |
98% (63/64) |
MGI Phenotype |
PHENOTYPE: Homozygous null mice display postnatal lethality, growth retardation, reduced vocalization, prolonged external granule cell layer presence, abnormal Purkinje and radial glial cells, delayed eye opening and ear emergence, negative geotaxis, impaired righting response, and hypoactivity. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 63 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adal |
T |
C |
2: 120,982,966 (GRCm39) |
I86T |
probably damaging |
Het |
Aff3 |
T |
C |
1: 38,308,807 (GRCm39) |
D376G |
possibly damaging |
Het |
Akap11 |
A |
T |
14: 78,752,380 (GRCm39) |
H164Q |
possibly damaging |
Het |
Akap12 |
A |
T |
10: 4,303,220 (GRCm39) |
D10V |
probably damaging |
Het |
Arhgap32 |
T |
C |
9: 32,063,294 (GRCm39) |
V101A |
probably damaging |
Het |
Atm |
A |
T |
9: 53,364,828 (GRCm39) |
|
probably benign |
Het |
Ccdc18 |
A |
G |
5: 108,309,566 (GRCm39) |
D387G |
possibly damaging |
Het |
Ccdc38 |
A |
T |
10: 93,409,964 (GRCm39) |
Q261L |
probably damaging |
Het |
Cd180 |
T |
G |
13: 102,839,216 (GRCm39) |
V33G |
probably benign |
Het |
Cd207 |
G |
A |
6: 83,651,230 (GRCm39) |
Q242* |
probably null |
Het |
Cnp |
T |
C |
11: 100,467,633 (GRCm39) |
F192S |
probably damaging |
Het |
Colec10 |
G |
T |
15: 54,274,271 (GRCm39) |
R33L |
possibly damaging |
Het |
Csn1s1 |
A |
T |
5: 87,819,390 (GRCm39) |
M16L |
probably benign |
Het |
Dnah10 |
A |
T |
5: 124,803,966 (GRCm39) |
M98L |
probably benign |
Het |
Dnah17 |
T |
C |
11: 117,950,918 (GRCm39) |
I2902V |
possibly damaging |
Het |
Dtnb |
A |
G |
12: 3,646,635 (GRCm39) |
|
probably benign |
Het |
Epha5 |
T |
C |
5: 84,479,701 (GRCm39) |
Y101C |
probably damaging |
Het |
Ephb2 |
T |
A |
4: 136,384,835 (GRCm39) |
M860L |
probably damaging |
Het |
Fbxw18 |
T |
C |
9: 109,530,381 (GRCm39) |
T77A |
probably damaging |
Het |
Fgfbp3 |
A |
G |
19: 36,896,082 (GRCm39) |
S179P |
possibly damaging |
Het |
Gckr |
A |
T |
5: 31,454,933 (GRCm39) |
|
probably benign |
Het |
Glce |
T |
A |
9: 61,975,861 (GRCm39) |
Q213L |
probably damaging |
Het |
Gm1965 |
A |
C |
6: 89,123,469 (GRCm39) |
H84P |
unknown |
Het |
Hbegf |
A |
G |
18: 36,640,559 (GRCm39) |
V166A |
probably damaging |
Het |
Helb |
G |
T |
10: 119,944,886 (GRCm39) |
H217N |
probably damaging |
Het |
Ino80 |
G |
A |
2: 119,213,441 (GRCm39) |
R1249C |
probably damaging |
Het |
Kansl2 |
A |
G |
15: 98,418,257 (GRCm39) |
L392P |
probably damaging |
Het |
Klra1 |
A |
T |
6: 130,349,836 (GRCm39) |
Y201N |
probably damaging |
Het |
Klra3 |
A |
G |
6: 130,300,650 (GRCm39) |
S240P |
probably damaging |
Het |
Liph |
T |
A |
16: 21,802,944 (GRCm39) |
R42* |
probably null |
Het |
Lrp1 |
A |
T |
10: 127,377,694 (GRCm39) |
|
probably null |
Het |
Luc7l2 |
A |
T |
6: 38,566,169 (GRCm39) |
K52M |
probably damaging |
Het |
Mecom |
G |
A |
3: 30,034,060 (GRCm39) |
P215S |
probably damaging |
Het |
Myo1g |
T |
A |
11: 6,465,901 (GRCm39) |
T395S |
probably damaging |
Het |
Ndst4 |
T |
A |
3: 125,364,475 (GRCm39) |
M384K |
probably benign |
Het |
Ndufb2 |
C |
T |
6: 39,573,438 (GRCm39) |
T51I |
possibly damaging |
Het |
Nell1 |
C |
A |
7: 50,210,507 (GRCm39) |
|
probably benign |
Het |
Or51k1 |
A |
T |
7: 103,661,638 (GRCm39) |
N90K |
probably benign |
Het |
Oxr1 |
G |
A |
15: 41,683,936 (GRCm39) |
S434N |
possibly damaging |
Het |
Pcdhac2 |
T |
A |
18: 37,278,290 (GRCm39) |
S423R |
probably benign |
Het |
Pcdhb10 |
T |
A |
18: 37,545,012 (GRCm39) |
D29E |
probably benign |
Het |
Pde10a |
A |
G |
17: 9,200,408 (GRCm39) |
T1053A |
probably benign |
Het |
Pkdrej |
T |
A |
15: 85,702,384 (GRCm39) |
H1184L |
probably damaging |
Het |
Prkaa2 |
C |
T |
4: 104,904,288 (GRCm39) |
R263Q |
probably null |
Het |
Prmt9 |
A |
G |
8: 78,282,411 (GRCm39) |
I103V |
possibly damaging |
Het |
Rbm15b |
T |
C |
9: 106,762,135 (GRCm39) |
T678A |
probably benign |
Het |
Ryr2 |
T |
C |
13: 11,680,805 (GRCm39) |
Y3180C |
probably benign |
Het |
Scaf1 |
T |
C |
7: 44,657,094 (GRCm39) |
|
probably benign |
Het |
Scn7a |
T |
A |
2: 66,518,139 (GRCm39) |
N1024I |
possibly damaging |
Het |
Sec23b |
T |
C |
2: 144,406,482 (GRCm39) |
|
probably benign |
Het |
Sf1 |
C |
A |
19: 6,424,221 (GRCm39) |
P417Q |
probably damaging |
Het |
Slc4a3 |
A |
T |
1: 75,533,653 (GRCm39) |
|
probably benign |
Het |
Stk32a |
T |
C |
18: 43,438,121 (GRCm39) |
W207R |
probably damaging |
Het |
Syne1 |
A |
T |
10: 5,393,132 (GRCm39) |
|
probably benign |
Het |
Tecta |
A |
T |
9: 42,256,774 (GRCm39) |
V1634E |
possibly damaging |
Het |
Tenm2 |
A |
G |
11: 35,914,184 (GRCm39) |
F2450S |
probably damaging |
Het |
Tgfb1 |
T |
C |
7: 25,391,791 (GRCm39) |
|
probably benign |
Het |
Tpgs2 |
A |
G |
18: 25,291,295 (GRCm39) |
|
probably benign |
Het |
Washc5 |
A |
G |
15: 59,239,316 (GRCm39) |
M149T |
probably damaging |
Het |
Wrn |
A |
T |
8: 33,807,588 (GRCm39) |
V290D |
probably damaging |
Het |
Zbtb41 |
A |
G |
1: 139,370,626 (GRCm39) |
T688A |
possibly damaging |
Het |
Zfp560 |
C |
T |
9: 20,259,263 (GRCm39) |
C533Y |
probably damaging |
Het |
Zfp791 |
G |
A |
8: 85,837,495 (GRCm39) |
A123V |
probably benign |
Het |
|
Other mutations in Foxp2 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00515:Foxp2
|
APN |
6 |
15,403,818 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01011:Foxp2
|
APN |
6 |
15,438,018 (GRCm39) |
makesense |
probably null |
|
IGL01412:Foxp2
|
APN |
6 |
15,376,757 (GRCm39) |
intron |
probably benign |
|
IGL01769:Foxp2
|
APN |
6 |
15,409,834 (GRCm39) |
missense |
possibly damaging |
0.92 |
IGL02578:Foxp2
|
APN |
6 |
15,376,814 (GRCm39) |
intron |
probably benign |
|
IGL03368:Foxp2
|
APN |
6 |
15,394,717 (GRCm39) |
missense |
probably damaging |
1.00 |
R0081:Foxp2
|
UTSW |
6 |
15,405,643 (GRCm39) |
critical splice donor site |
probably benign |
|
R0095:Foxp2
|
UTSW |
6 |
15,196,976 (GRCm39) |
missense |
probably damaging |
1.00 |
R0233:Foxp2
|
UTSW |
6 |
15,409,752 (GRCm39) |
missense |
probably damaging |
1.00 |
R0294:Foxp2
|
UTSW |
6 |
15,376,773 (GRCm39) |
intron |
probably benign |
|
R0357:Foxp2
|
UTSW |
6 |
15,409,839 (GRCm39) |
missense |
probably damaging |
0.99 |
R0432:Foxp2
|
UTSW |
6 |
15,254,278 (GRCm39) |
intron |
probably benign |
|
R0659:Foxp2
|
UTSW |
6 |
15,254,278 (GRCm39) |
intron |
probably benign |
|
R1381:Foxp2
|
UTSW |
6 |
15,409,765 (GRCm39) |
missense |
possibly damaging |
0.50 |
R1813:Foxp2
|
UTSW |
6 |
15,379,767 (GRCm39) |
utr 3 prime |
probably benign |
|
R1896:Foxp2
|
UTSW |
6 |
15,379,767 (GRCm39) |
utr 3 prime |
probably benign |
|
R2007:Foxp2
|
UTSW |
6 |
15,396,818 (GRCm39) |
missense |
probably damaging |
1.00 |
R2020:Foxp2
|
UTSW |
6 |
15,324,643 (GRCm39) |
missense |
possibly damaging |
0.73 |
R2167:Foxp2
|
UTSW |
6 |
15,437,901 (GRCm39) |
missense |
probably damaging |
1.00 |
R2326:Foxp2
|
UTSW |
6 |
15,409,938 (GRCm39) |
missense |
possibly damaging |
0.84 |
R3829:Foxp2
|
UTSW |
6 |
15,379,830 (GRCm39) |
unclassified |
probably benign |
|
R3978:Foxp2
|
UTSW |
6 |
15,197,207 (GRCm39) |
unclassified |
probably benign |
|
R4393:Foxp2
|
UTSW |
6 |
15,377,689 (GRCm39) |
intron |
probably benign |
|
R4703:Foxp2
|
UTSW |
6 |
15,411,247 (GRCm39) |
missense |
probably benign |
0.03 |
R5202:Foxp2
|
UTSW |
6 |
15,394,770 (GRCm39) |
missense |
probably benign |
0.05 |
R5303:Foxp2
|
UTSW |
6 |
15,324,636 (GRCm39) |
missense |
probably benign |
0.00 |
R5368:Foxp2
|
UTSW |
6 |
15,377,913 (GRCm39) |
intron |
probably benign |
|
R5533:Foxp2
|
UTSW |
6 |
15,197,119 (GRCm39) |
nonsense |
probably null |
|
R5655:Foxp2
|
UTSW |
6 |
15,197,112 (GRCm39) |
missense |
probably damaging |
0.99 |
R6220:Foxp2
|
UTSW |
6 |
15,437,947 (GRCm39) |
missense |
probably damaging |
1.00 |
R6241:Foxp2
|
UTSW |
6 |
15,394,761 (GRCm39) |
missense |
probably damaging |
1.00 |
R6365:Foxp2
|
UTSW |
6 |
15,286,684 (GRCm39) |
missense |
probably damaging |
1.00 |
R6384:Foxp2
|
UTSW |
6 |
15,437,947 (GRCm39) |
missense |
probably damaging |
1.00 |
R7217:Foxp2
|
UTSW |
6 |
15,416,023 (GRCm39) |
missense |
unknown |
|
R7553:Foxp2
|
UTSW |
6 |
15,437,881 (GRCm39) |
missense |
unknown |
|
R7881:Foxp2
|
UTSW |
6 |
15,409,888 (GRCm39) |
missense |
unknown |
|
R8420:Foxp2
|
UTSW |
6 |
15,403,866 (GRCm39) |
missense |
unknown |
|
R8865:Foxp2
|
UTSW |
6 |
15,415,093 (GRCm39) |
missense |
unknown |
|
R9147:Foxp2
|
UTSW |
6 |
15,286,711 (GRCm39) |
missense |
possibly damaging |
0.88 |
R9148:Foxp2
|
UTSW |
6 |
15,286,711 (GRCm39) |
missense |
possibly damaging |
0.88 |
R9290:Foxp2
|
UTSW |
6 |
15,197,120 (GRCm39) |
missense |
possibly damaging |
0.93 |
R9373:Foxp2
|
UTSW |
6 |
15,377,969 (GRCm39) |
missense |
unknown |
|
X0023:Foxp2
|
UTSW |
6 |
15,409,834 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Predicted Primers |
PCR Primer
(F):5'- GTGTAATTGGCAGAGAGGGACATCC -3'
(R):5'- CACTCTGGCACTGCTATGACGTAAC -3'
Sequencing Primer
(F):5'- CATCCTGAGAATGGAGGTGTG -3'
(R):5'- GGCACTGCTATGACGTAACTAATG -3'
|
Posted On |
2013-05-09 |