Incidental Mutation 'R6365:Foxp2'
| ID |
512629 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Foxp2
|
| Ensembl Gene |
ENSMUSG00000029563 |
| Gene Name |
forkhead box P2 |
| Synonyms |
D0Kist7, 2810043D05Rik |
| MMRRC Submission |
044515-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R6365 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
6 |
| Chromosomal Location |
14901348-15441976 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 15286684 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Proline
at position 58
(L58P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000123007
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000031545]
[ENSMUST00000115469]
[ENSMUST00000115472]
[ENSMUST00000115474]
[ENSMUST00000115477]
[ENSMUST00000128567]
[ENSMUST00000131414]
[ENSMUST00000140557]
[ENSMUST00000137628]
|
| AlphaFold |
P58463 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000031545
AA Change: L58P
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000031545
Gene: ENSMUSG00000029563
AA Change: L58P
| 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: L57P
PolyPhen 2
Score 0.956 (Sensitivity: 0.79; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000111129
Gene: ENSMUSG00000029563
AA Change: L57P
| 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 damaging
Transcript: ENSMUST00000115472
AA Change: L58P
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000111132
Gene: ENSMUSG00000029563
AA Change: L58P
| 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: L58P
|
| SMART Domains |
Protein: ENSMUSP00000111134
Gene: ENSMUSG00000029563
AA Change: L58P
| 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 damaging
Transcript: ENSMUST00000115477
AA Change: L58P
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000111137
Gene: ENSMUSG00000029563
AA Change: L58P
| 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 damaging
Transcript: ENSMUST00000128567
AA Change: L58P
PolyPhen 2
Score 0.974 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000123067
Gene: ENSMUSG00000029563
AA Change: L58P
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
30 |
42 |
N/A |
INTRINSIC |
|
low complexity region
|
49 |
69 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000131414
AA Change: L58P
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000123007
Gene: ENSMUSG00000029563
AA Change: L58P
| 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 |
probably damaging
Transcript: ENSMUST00000140557
AA Change: L58P
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000121503
Gene: ENSMUSG00000029563
AA Change: L58P
| 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 |
noncoding transcript
Transcript: ENSMUST00000159788
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000137628
|
| SMART Domains |
Protein: ENSMUSP00000116650
Gene: ENSMUSG00000029563
| 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 |
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 |
noncoding transcript
Transcript: ENSMUST00000138273
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000151060
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.0%
- 20x: 93.8%
|
| Validation Efficiency |
98% (57/58) |
| 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: 60 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2900026A02Rik |
G |
T |
5: 113,330,510 (GRCm39) |
R1235S |
probably benign |
Het |
| Abca9 |
T |
A |
11: 110,036,481 (GRCm39) |
I543F |
possibly damaging |
Het |
| Acot6 |
A |
G |
12: 84,156,186 (GRCm39) |
E378G |
probably benign |
Het |
| Adam30 |
T |
C |
3: 98,068,350 (GRCm39) |
L61S |
probably damaging |
Het |
| Agap3 |
T |
A |
5: 24,679,983 (GRCm39) |
L227Q |
probably benign |
Het |
| Ap5m1 |
T |
C |
14: 49,316,285 (GRCm39) |
I285T |
probably benign |
Het |
| Atp2a2 |
A |
G |
5: 122,599,979 (GRCm39) |
Y497H |
probably benign |
Het |
| Bace1 |
C |
T |
9: 45,765,974 (GRCm39) |
Q17* |
probably null |
Het |
| Calcr |
T |
C |
6: 3,711,455 (GRCm39) |
I189V |
probably benign |
Het |
| Cd48 |
A |
T |
1: 171,509,732 (GRCm39) |
Q24L |
probably null |
Het |
| Cnga1 |
T |
C |
5: 72,762,288 (GRCm39) |
I409V |
probably benign |
Het |
| Ctsd |
G |
A |
7: 141,939,314 (GRCm39) |
T37M |
probably benign |
Het |
| Cyp2c29 |
T |
C |
19: 39,296,198 (GRCm39) |
S171P |
probably damaging |
Het |
| Dnaaf11 |
A |
T |
15: 66,325,983 (GRCm39) |
S197R |
probably benign |
Het |
| Dnah8 |
G |
A |
17: 30,967,542 (GRCm39) |
D2585N |
probably benign |
Het |
| Drd2 |
A |
T |
9: 49,318,249 (GRCm39) |
N397I |
probably damaging |
Het |
| Dst |
A |
G |
1: 34,231,008 (GRCm39) |
E3045G |
probably damaging |
Het |
| Dzip3 |
T |
A |
16: 48,751,636 (GRCm39) |
R764S |
probably damaging |
Het |
| Efcab3 |
A |
G |
11: 104,815,412 (GRCm39) |
E3247G |
unknown |
Het |
| Exosc10 |
T |
C |
4: 148,645,562 (GRCm39) |
V114A |
probably benign |
Het |
| Fam234a |
C |
A |
17: 26,439,429 (GRCm39) |
E32* |
probably null |
Het |
| Fbxw11 |
C |
A |
11: 32,670,623 (GRCm39) |
D162E |
possibly damaging |
Het |
| Fcho2 |
A |
T |
13: 98,926,367 (GRCm39) |
M72K |
probably benign |
Het |
| Fech |
T |
C |
18: 64,591,251 (GRCm39) |
N391S |
probably benign |
Het |
| Gdi2 |
A |
G |
13: 3,615,093 (GRCm39) |
D430G |
possibly damaging |
Het |
| Grm8 |
C |
T |
6: 27,363,226 (GRCm39) |
C763Y |
probably damaging |
Het |
| H2bc6 |
C |
T |
13: 23,769,641 (GRCm39) |
R100H |
probably benign |
Het |
| Hibch |
T |
A |
1: 52,908,096 (GRCm39) |
|
probably null |
Het |
| Ifi44l |
C |
T |
3: 151,467,142 (GRCm39) |
V63I |
unknown |
Het |
| Igf1r |
G |
T |
7: 67,839,798 (GRCm39) |
A702S |
probably benign |
Het |
| Kctd13 |
G |
A |
7: 126,529,862 (GRCm39) |
R101Q |
probably damaging |
Het |
| Klhl33 |
T |
C |
14: 51,129,294 (GRCm39) |
D645G |
probably benign |
Het |
| Mylk |
A |
G |
16: 34,680,961 (GRCm39) |
T74A |
probably benign |
Het |
| Myo1f |
A |
G |
17: 33,805,090 (GRCm39) |
S453G |
probably benign |
Het |
| Naxe |
A |
G |
3: 87,965,298 (GRCm39) |
V105A |
probably damaging |
Het |
| Nid2 |
A |
G |
14: 19,853,201 (GRCm39) |
Y1140C |
probably damaging |
Het |
| Nlrp12 |
T |
C |
7: 3,288,518 (GRCm39) |
T665A |
probably benign |
Het |
| Or51l4 |
T |
A |
7: 103,404,402 (GRCm39) |
H130L |
probably benign |
Het |
| Otud7b |
T |
G |
3: 96,062,567 (GRCm39) |
I602S |
probably benign |
Het |
| Pakap |
G |
T |
4: 57,709,675 (GRCm39) |
G207* |
probably null |
Het |
| Papolg |
T |
C |
11: 23,832,290 (GRCm39) |
D166G |
probably damaging |
Het |
| Pbx4 |
T |
G |
8: 70,324,857 (GRCm39) |
|
probably null |
Het |
| Pdcd4 |
T |
C |
19: 53,910,564 (GRCm39) |
|
probably null |
Het |
| Pde2a |
C |
T |
7: 101,159,570 (GRCm39) |
T800I |
probably damaging |
Het |
| Polk |
A |
T |
13: 96,620,517 (GRCm39) |
V582E |
probably damaging |
Het |
| Prss40 |
A |
G |
1: 34,591,598 (GRCm39) |
|
probably benign |
Het |
| Robo4 |
G |
T |
9: 37,322,008 (GRCm39) |
R597L |
probably benign |
Het |
| Scg2 |
T |
A |
1: 79,413,017 (GRCm39) |
I529F |
probably benign |
Het |
| Sema7a |
T |
C |
9: 57,862,188 (GRCm39) |
F180L |
probably benign |
Het |
| Sowahc |
T |
C |
10: 59,059,349 (GRCm39) |
L495P |
probably damaging |
Het |
| Trf |
A |
G |
9: 103,099,327 (GRCm39) |
V324A |
possibly damaging |
Het |
| Uox |
C |
T |
3: 146,330,332 (GRCm39) |
R163* |
probably null |
Het |
| Vip |
C |
T |
10: 5,594,021 (GRCm39) |
R125* |
probably null |
Het |
| Vmn1r159 |
T |
A |
7: 22,542,826 (GRCm39) |
T69S |
probably damaging |
Het |
| Vmn1r202 |
A |
T |
13: 22,686,374 (GRCm39) |
F14L |
probably benign |
Het |
| Vmn1r53 |
T |
C |
6: 90,201,241 (GRCm39) |
N28D |
probably damaging |
Het |
| Vmn2r58 |
T |
A |
7: 41,513,607 (GRCm39) |
K345N |
probably benign |
Het |
| Zbtb17 |
G |
A |
4: 141,190,694 (GRCm39) |
G171S |
probably benign |
Het |
| Zbtb8os |
A |
T |
4: 129,236,945 (GRCm39) |
N120I |
possibly damaging |
Het |
| Zfp959 |
T |
A |
17: 56,204,785 (GRCm39) |
L274H |
probably damaging |
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 |
|
R0004:Foxp2
|
UTSW |
6 |
15,197,095 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
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 |
|
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'- GACTGCATGCATCTGTATGATTTTG -3'
(R):5'- AATCCCATTAATGTCCAGGAAGG -3'
Sequencing Primer
(F):5'- GGTGAAAGTCCTCACTTGT -3'
(R):5'- AGTCCTCTTTACAAAAATCCCATG -3'
|
| Posted On |
2018-04-27 |
Incidental Mutation