Incidental Mutation 'R4085:Kank2'
| ID |
317091 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Kank2
|
| Ensembl Gene |
ENSMUSG00000032194 |
| Gene Name |
KN motif and ankyrin repeat domains 2 |
| Synonyms |
Ankrd25 |
| MMRRC Submission |
040979-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.242)
|
| Stock # |
R4085 (G1)
|
| Quality Score |
164 |
|
Status
|
Validated
|
| Chromosome |
9 |
| Chromosomal Location |
21678069-21709842 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 21706415 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Proline
at position 201
(L201P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000151181
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000034717]
[ENSMUST00000213691]
[ENSMUST00000216008]
[ENSMUST00000217336]
|
| AlphaFold |
Q8BX02 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000034717
AA Change: L201P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000034717
Gene: ENSMUSG00000032194
AA Change: L201P
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:KN_motif
|
31 |
69 |
9.6e-26 |
PFAM |
|
low complexity region
|
139 |
157 |
N/A |
INTRINSIC |
|
coiled coil region
|
213 |
229 |
N/A |
INTRINSIC |
|
coiled coil region
|
284 |
316 |
N/A |
INTRINSIC |
|
low complexity region
|
324 |
343 |
N/A |
INTRINSIC |
|
low complexity region
|
457 |
470 |
N/A |
INTRINSIC |
|
ANK
|
658 |
688 |
6.36e-3 |
SMART |
|
ANK
|
692 |
725 |
7.29e2 |
SMART |
|
ANK
|
730 |
759 |
4.97e-5 |
SMART |
|
ANK
|
763 |
793 |
3.85e-2 |
SMART |
|
ANK
|
797 |
825 |
1.06e1 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000213691
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000216008
AA Change: L201P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000217336
|
| Meta Mutation Damage Score |
0.2978 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.9%
|
| Validation Efficiency |
98% (59/60) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the KN motif and ankyrin repeat domains (KANK) family of proteins, which play a role in cytoskeletal formation by regulating actin polymerization. The encoded protein functions in the sequestration of steroid receptor coactivators and possibly other proteins. Mutations in this gene are associated with impaired kidney podocyte function and nephrotic syndrome, and keratoderma and woolly hair. [provided by RefSeq, Jul 2016]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 52 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700012B07Rik |
G |
T |
11: 109,684,980 (GRCm39) |
C172* |
probably null |
Het |
| Abca15 |
T |
C |
7: 119,981,949 (GRCm39) |
V1088A |
probably damaging |
Het |
| Adgrl3 |
A |
G |
5: 81,660,391 (GRCm39) |
I319V |
probably benign |
Het |
| Atraid |
A |
T |
5: 31,209,650 (GRCm39) |
|
probably benign |
Het |
| Aurkaip1 |
A |
T |
4: 155,917,362 (GRCm39) |
K172N |
probably benign |
Het |
| Bicd2 |
T |
A |
13: 49,538,438 (GRCm39) |
|
probably null |
Het |
| Ccr1 |
C |
T |
9: 123,763,987 (GRCm39) |
R181H |
probably benign |
Het |
| Cep250 |
G |
A |
2: 155,834,552 (GRCm39) |
R2159K |
probably damaging |
Het |
| Cldn34c4 |
A |
T |
X: 126,629,011 (GRCm39) |
V153E |
probably damaging |
Het |
| Col4a4 |
C |
A |
1: 82,448,909 (GRCm39) |
|
probably null |
Het |
| Coro1b |
T |
C |
19: 4,203,618 (GRCm39) |
V451A |
probably benign |
Het |
| Dcc |
T |
A |
18: 71,959,240 (GRCm39) |
Q177H |
probably benign |
Het |
| Ddx4 |
A |
G |
13: 112,750,295 (GRCm39) |
V386A |
probably benign |
Het |
| Dynlrb1 |
G |
T |
2: 155,091,896 (GRCm39) |
|
probably benign |
Het |
| Ehbp1 |
A |
T |
11: 22,045,898 (GRCm39) |
L592Q |
possibly damaging |
Het |
| Fam20b |
T |
C |
1: 156,533,445 (GRCm39) |
D57G |
probably benign |
Het |
| Fbxo33 |
A |
G |
12: 59,247,591 (GRCm39) |
|
probably benign |
Het |
| Fndc4 |
A |
G |
5: 31,451,121 (GRCm39) |
I190T |
probably damaging |
Het |
| Gad1 |
G |
T |
2: 70,420,192 (GRCm39) |
A359S |
probably benign |
Het |
| Gkn3 |
C |
T |
6: 87,360,507 (GRCm39) |
A163T |
probably damaging |
Het |
| Gm43517 |
A |
G |
12: 49,437,897 (GRCm39) |
|
probably benign |
Het |
| Hectd1 |
A |
T |
12: 51,821,533 (GRCm39) |
V1052D |
possibly damaging |
Het |
| Herc6 |
G |
A |
6: 57,624,054 (GRCm39) |
C608Y |
probably benign |
Het |
| Itpr2 |
T |
A |
6: 146,045,746 (GRCm39) |
D2573V |
probably damaging |
Het |
| Kdm1a |
A |
C |
4: 136,279,273 (GRCm39) |
Y762* |
probably null |
Het |
| Mef2c |
C |
T |
13: 83,723,821 (GRCm39) |
T9M |
probably damaging |
Het |
| Ndst4 |
A |
G |
3: 125,403,131 (GRCm39) |
I413V |
probably benign |
Het |
| Nlrp1b |
T |
C |
11: 71,052,588 (GRCm39) |
T947A |
probably damaging |
Het |
| Nlrp5 |
C |
A |
7: 23,129,523 (GRCm39) |
N863K |
probably damaging |
Het |
| Opn1sw |
A |
G |
6: 29,380,143 (GRCm39) |
I91T |
possibly damaging |
Het |
| Or2y13 |
T |
C |
11: 49,414,955 (GRCm39) |
I135T |
probably benign |
Het |
| Pmfbp1 |
A |
G |
8: 110,221,579 (GRCm39) |
K15E |
possibly damaging |
Het |
| Ppp3cb |
A |
G |
14: 20,558,611 (GRCm39) |
C484R |
possibly damaging |
Het |
| Rassf2 |
C |
A |
2: 131,846,299 (GRCm39) |
G153C |
probably damaging |
Het |
| Rbm15b |
T |
C |
9: 106,762,936 (GRCm39) |
N411D |
possibly damaging |
Het |
| Rbm47 |
A |
G |
5: 66,180,080 (GRCm39) |
M409T |
probably benign |
Het |
| Sall1 |
C |
T |
8: 89,755,137 (GRCm39) |
V1281M |
probably benign |
Het |
| Sall3 |
A |
T |
18: 81,015,348 (GRCm39) |
M860K |
probably damaging |
Het |
| Sik2 |
A |
T |
9: 50,846,685 (GRCm39) |
|
probably benign |
Het |
| Sim2 |
A |
G |
16: 93,910,213 (GRCm39) |
Y205C |
possibly damaging |
Het |
| Styxl1 |
G |
A |
5: 135,788,019 (GRCm39) |
T92I |
unknown |
Het |
| Sypl2 |
A |
G |
3: 108,124,992 (GRCm39) |
I123T |
possibly damaging |
Het |
| Taok2 |
T |
C |
7: 126,473,897 (GRCm39) |
E403G |
possibly damaging |
Het |
| Tedc2 |
A |
T |
17: 24,438,813 (GRCm39) |
V168E |
probably benign |
Het |
| Tle6 |
A |
G |
10: 81,430,349 (GRCm39) |
|
probably null |
Het |
| Traf3ip3 |
A |
G |
1: 192,863,628 (GRCm39) |
V414A |
probably damaging |
Het |
| Trim14 |
T |
A |
4: 46,523,709 (GRCm39) |
T110S |
probably benign |
Het |
| Ucp1 |
T |
C |
8: 84,020,580 (GRCm39) |
I130T |
probably benign |
Het |
| Urb2 |
A |
G |
8: 124,757,680 (GRCm39) |
H1129R |
probably benign |
Het |
| Vmn2r111 |
C |
T |
17: 22,778,096 (GRCm39) |
G528R |
probably benign |
Het |
| Wbp2nl |
A |
G |
15: 82,192,762 (GRCm39) |
M149V |
probably benign |
Het |
| Xdh |
A |
T |
17: 74,223,874 (GRCm39) |
M506K |
probably benign |
Het |
|
| Other mutations in Kank2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00788:Kank2
|
APN |
9 |
21,691,775 (GRCm39) |
splice site |
probably benign |
|
|
IGL01574:Kank2
|
APN |
9 |
21,705,900 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01624:Kank2
|
APN |
9 |
21,691,676 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02752:Kank2
|
APN |
9 |
21,706,329 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03116:Kank2
|
APN |
9 |
21,684,060 (GRCm39) |
missense |
probably damaging |
0.96 |
|
IGL03133:Kank2
|
APN |
9 |
21,706,937 (GRCm39) |
missense |
probably null |
0.82 |
|
IGL03384:Kank2
|
APN |
9 |
21,685,874 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
PIT4515001:Kank2
|
UTSW |
9 |
21,706,179 (GRCm39) |
missense |
probably benign |
|
|
R0054:Kank2
|
UTSW |
9 |
21,685,970 (GRCm39) |
nonsense |
probably null |
|
|
R0480:Kank2
|
UTSW |
9 |
21,691,195 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1270:Kank2
|
UTSW |
9 |
21,684,056 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1538:Kank2
|
UTSW |
9 |
21,685,927 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1574:Kank2
|
UTSW |
9 |
21,685,871 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1574:Kank2
|
UTSW |
9 |
21,685,871 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1602:Kank2
|
UTSW |
9 |
21,681,133 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1827:Kank2
|
UTSW |
9 |
21,706,761 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1941:Kank2
|
UTSW |
9 |
21,684,162 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
R1976:Kank2
|
UTSW |
9 |
21,705,857 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R2276:Kank2
|
UTSW |
9 |
21,681,080 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2278:Kank2
|
UTSW |
9 |
21,681,080 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2303:Kank2
|
UTSW |
9 |
21,681,061 (GRCm39) |
missense |
probably benign |
0.12 |
|
R4163:Kank2
|
UTSW |
9 |
21,706,864 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4204:Kank2
|
UTSW |
9 |
21,706,923 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4461:Kank2
|
UTSW |
9 |
21,706,041 (GRCm39) |
nonsense |
probably null |
|
|
R4738:Kank2
|
UTSW |
9 |
21,685,915 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4811:Kank2
|
UTSW |
9 |
21,687,043 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4859:Kank2
|
UTSW |
9 |
21,691,078 (GRCm39) |
missense |
probably benign |
0.13 |
|
R5838:Kank2
|
UTSW |
9 |
21,706,689 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6449:Kank2
|
UTSW |
9 |
21,691,858 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
R7131:Kank2
|
UTSW |
9 |
21,705,975 (GRCm39) |
missense |
probably benign |
0.02 |
|
R8724:Kank2
|
UTSW |
9 |
21,705,917 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
R9040:Kank2
|
UTSW |
9 |
21,706,115 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9139:Kank2
|
UTSW |
9 |
21,681,370 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9508:Kank2
|
UTSW |
9 |
21,687,076 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9563:Kank2
|
UTSW |
9 |
21,705,852 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R9564:Kank2
|
UTSW |
9 |
21,706,631 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9564:Kank2
|
UTSW |
9 |
21,705,852 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
Z1177:Kank2
|
UTSW |
9 |
21,706,545 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- ATCTGGAATGCCCAAGTCCC -3'
(R):5'- TTCTACCCACAGTACGGAGC -3'
Sequencing Primer
(F):5'- TCTCTAGTGCAGCAGGGTC -3'
(R):5'- AGCCTTGGAGACCCGAATC -3'
|
| Posted On |
2015-05-15 |
Incidental Mutation