Incidental Mutation 'R2517:Kng2'
| ID |
254003 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Kng2
|
| Ensembl Gene |
ENSMUSG00000060459 |
| Gene Name |
kininogen 2 |
| Synonyms |
Kininogen-II |
| MMRRC Submission |
040421-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R2517 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
16 |
| Chromosomal Location |
22804602-22847851 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 22807065 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Asparagine
at position 378
(I378N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000111006
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000039338]
[ENSMUST00000100046]
[ENSMUST00000115349]
[ENSMUST00000160243]
|
| AlphaFold |
Q6S9I3 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000039338
AA Change: I378N
PolyPhen 2
Score 0.230 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000046867
Gene: ENSMUSG00000060459
AA Change: I378N
| Domain | Start | End | E-Value | Type |
|---|
|
CY
|
18 |
126 |
3.72e-19 |
SMART |
|
CY
|
140 |
248 |
2.57e-22 |
SMART |
|
CY
|
262 |
370 |
2.06e-35 |
SMART |
|
low complexity region
|
376 |
390 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000100046
AA Change: I378N
PolyPhen 2
Score 0.147 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000097623
Gene: ENSMUSG00000060459
AA Change: I378N
| Domain | Start | End | E-Value | Type |
|---|
|
CY
|
18 |
126 |
3.72e-19 |
SMART |
|
CY
|
140 |
248 |
2.57e-22 |
SMART |
|
CY
|
262 |
370 |
2.06e-35 |
SMART |
|
low complexity region
|
376 |
390 |
N/A |
INTRINSIC |
|
low complexity region
|
478 |
506 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000115349
AA Change: I378N
PolyPhen 2
Score 0.243 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000111006
Gene: ENSMUSG00000060459
AA Change: I378N
| Domain | Start | End | E-Value | Type |
|---|
|
CY
|
18 |
126 |
3.72e-19 |
SMART |
|
CY
|
140 |
248 |
2.57e-22 |
SMART |
|
CY
|
262 |
370 |
2.06e-35 |
SMART |
|
low complexity region
|
376 |
390 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000160243
|
| SMART Domains |
Protein: ENSMUSP00000124161
Gene: ENSMUSG00000060459
| Domain | Start | End | E-Value | Type |
|---|
|
CY
|
18 |
126 |
3.72e-19 |
SMART |
|
Blast:CY
|
140 |
171 |
2e-15 |
BLAST |
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000231872
AA Change: I81N
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 97.1%
- 20x: 94.2%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 60 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adcy4 |
C |
A |
14: 56,019,403 (GRCm39) |
E82D |
probably damaging |
Het |
| Ago1 |
G |
A |
4: 126,333,732 (GRCm39) |
R486* |
probably null |
Het |
| Ago2 |
T |
A |
15: 72,996,091 (GRCm39) |
N346I |
possibly damaging |
Het |
| Apol11a |
A |
T |
15: 77,401,395 (GRCm39) |
D294V |
probably benign |
Het |
| Atp13a5 |
A |
G |
16: 29,116,215 (GRCm39) |
F634L |
possibly damaging |
Het |
| Atp2a2 |
G |
A |
5: 122,595,576 (GRCm39) |
P953L |
probably damaging |
Het |
| Brca2 |
A |
G |
5: 150,463,137 (GRCm39) |
D967G |
probably benign |
Het |
| Bud13 |
A |
T |
9: 46,199,446 (GRCm39) |
H269L |
probably benign |
Het |
| Cachd1 |
A |
T |
4: 100,838,079 (GRCm39) |
|
probably null |
Het |
| Cog3 |
T |
C |
14: 75,979,182 (GRCm39) |
D188G |
probably benign |
Het |
| Col15a1 |
T |
C |
4: 47,208,492 (GRCm39) |
S20P |
probably damaging |
Het |
| Col4a3 |
A |
G |
1: 82,658,431 (GRCm39) |
D838G |
unknown |
Het |
| Cwh43 |
A |
T |
5: 73,578,886 (GRCm39) |
T298S |
probably benign |
Het |
| Dip2c |
A |
G |
13: 9,659,041 (GRCm39) |
R847G |
probably damaging |
Het |
| Dnah2 |
C |
T |
11: 69,407,470 (GRCm39) |
D438N |
probably damaging |
Het |
| Drg2 |
T |
C |
11: 60,358,954 (GRCm39) |
V358A |
probably damaging |
Het |
| Eif4enif1 |
T |
A |
11: 3,171,168 (GRCm39) |
W220R |
probably damaging |
Het |
| Enpp2 |
A |
T |
15: 54,783,090 (GRCm39) |
I75K |
probably damaging |
Het |
| Fam110c |
T |
C |
12: 31,125,238 (GRCm39) |
I400T |
probably damaging |
Het |
| Fam193b |
C |
A |
13: 55,690,629 (GRCm39) |
R711L |
probably damaging |
Het |
| Fgfr1 |
T |
C |
8: 26,053,462 (GRCm39) |
Y246H |
probably damaging |
Het |
| Frs3 |
G |
A |
17: 48,013,997 (GRCm39) |
R230Q |
probably benign |
Het |
| Galnt5 |
A |
G |
2: 57,889,425 (GRCm39) |
K342E |
probably benign |
Het |
| Glrb |
A |
T |
3: 80,769,054 (GRCm39) |
L189Q |
probably damaging |
Het |
| Gmeb2 |
T |
C |
2: 180,900,819 (GRCm39) |
T193A |
probably benign |
Het |
| Gnl3 |
A |
G |
14: 30,736,120 (GRCm39) |
S307P |
probably damaging |
Het |
| Golim4 |
A |
T |
3: 75,800,166 (GRCm39) |
F443I |
probably benign |
Het |
| Hivep2 |
C |
A |
10: 14,004,713 (GRCm39) |
T437K |
probably benign |
Het |
| Klf10 |
A |
C |
15: 38,297,357 (GRCm39) |
Y228D |
probably benign |
Het |
| Klrc3 |
A |
T |
6: 129,616,520 (GRCm39) |
W166R |
probably damaging |
Het |
| Map3k10 |
T |
C |
7: 27,362,688 (GRCm39) |
K466R |
possibly damaging |
Het |
| Mrrf |
C |
T |
2: 36,079,109 (GRCm39) |
T245M |
probably benign |
Het |
| Msi1 |
A |
G |
5: 115,583,517 (GRCm39) |
Y239C |
probably damaging |
Het |
| Nfasc |
A |
G |
1: 132,525,501 (GRCm39) |
|
probably null |
Het |
| Or1x6 |
T |
A |
11: 50,939,300 (GRCm39) |
L122Q |
probably damaging |
Het |
| Or7g25 |
A |
T |
9: 19,160,357 (GRCm39) |
C113S |
probably benign |
Het |
| P3r3urf |
A |
G |
4: 116,030,791 (GRCm39) |
D65G |
probably benign |
Het |
| Pkd1l1 |
T |
C |
11: 8,908,900 (GRCm39) |
E368G |
unknown |
Het |
| Polq |
G |
A |
16: 36,909,687 (GRCm39) |
G2078D |
probably damaging |
Het |
| Ppfibp1 |
A |
C |
6: 146,893,942 (GRCm39) |
I134L |
probably damaging |
Het |
| Rasip1 |
A |
T |
7: 45,284,247 (GRCm39) |
I608F |
probably damaging |
Het |
| Ripk3 |
A |
T |
14: 56,025,492 (GRCm39) |
V24E |
probably damaging |
Het |
| Rtkn |
T |
A |
6: 83,124,526 (GRCm39) |
I110N |
probably damaging |
Het |
| Scn1a |
C |
T |
2: 66,104,176 (GRCm39) |
V1695I |
probably damaging |
Het |
| Shank2 |
A |
G |
7: 143,606,042 (GRCm39) |
N75S |
possibly damaging |
Het |
| Snu13 |
C |
A |
15: 81,928,182 (GRCm39) |
A14S |
probably benign |
Het |
| Snx27 |
A |
C |
3: 94,438,541 (GRCm39) |
D231E |
probably damaging |
Het |
| Spef2 |
A |
G |
15: 9,725,283 (GRCm39) |
I158T |
possibly damaging |
Het |
| Sptb |
A |
G |
12: 76,696,643 (GRCm39) |
I19T |
possibly damaging |
Het |
| Ssu72 |
T |
C |
4: 155,817,970 (GRCm39) |
L175P |
probably damaging |
Het |
| Tcstv2a |
T |
A |
13: 120,725,475 (GRCm39) |
C46* |
probably null |
Het |
| Tecr |
C |
T |
8: 84,299,204 (GRCm39) |
V248I |
probably benign |
Het |
| Tnfrsf13b |
T |
G |
11: 61,032,302 (GRCm39) |
S59A |
probably benign |
Het |
| Tom1l1 |
T |
C |
11: 90,561,951 (GRCm39) |
T150A |
possibly damaging |
Het |
| Ubr3 |
A |
T |
2: 69,766,362 (GRCm39) |
Y410F |
probably damaging |
Het |
| Vmn2r108 |
A |
G |
17: 20,692,577 (GRCm39) |
I93T |
probably damaging |
Het |
| Vmn2r19 |
A |
G |
6: 123,306,937 (GRCm39) |
T482A |
probably benign |
Het |
| Vstm4 |
T |
A |
14: 32,585,664 (GRCm39) |
M77K |
probably benign |
Het |
| Zbtb17 |
C |
T |
4: 141,191,896 (GRCm39) |
T309I |
probably damaging |
Het |
| Zfp957 |
T |
C |
14: 79,451,494 (GRCm39) |
T102A |
probably damaging |
Het |
|
| Other mutations in Kng2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00851:Kng2
|
APN |
16 |
22,847,580 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01319:Kng2
|
APN |
16 |
22,847,584 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL01469:Kng2
|
APN |
16 |
22,818,577 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01681:Kng2
|
APN |
16 |
22,815,767 (GRCm39) |
splice site |
probably benign |
|
|
IGL01830:Kng2
|
APN |
16 |
22,806,801 (GRCm39) |
missense |
probably damaging |
0.97 |
|
IGL01903:Kng2
|
APN |
16 |
22,806,540 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
IGL02146:Kng2
|
APN |
16 |
22,806,582 (GRCm39) |
missense |
probably damaging |
0.97 |
|
IGL02305:Kng2
|
APN |
16 |
22,819,374 (GRCm39) |
unclassified |
probably benign |
|
|
IGL02429:Kng2
|
APN |
16 |
22,830,829 (GRCm39) |
missense |
probably damaging |
0.99 |
|
FR4548:Kng2
|
UTSW |
16 |
22,819,302 (GRCm39) |
nonsense |
probably null |
|
|
R0020:Kng2
|
UTSW |
16 |
22,816,046 (GRCm39) |
missense |
probably benign |
0.02 |
|
R0047:Kng2
|
UTSW |
16 |
22,806,313 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R0245:Kng2
|
UTSW |
16 |
22,830,931 (GRCm39) |
splice site |
probably benign |
|
|
R0610:Kng2
|
UTSW |
16 |
22,819,344 (GRCm39) |
missense |
possibly damaging |
0.96 |
|
R0646:Kng2
|
UTSW |
16 |
22,806,486 (GRCm39) |
missense |
probably benign |
0.10 |
|
R0666:Kng2
|
UTSW |
16 |
22,815,872 (GRCm39) |
splice site |
probably benign |
|
|
R1552:Kng2
|
UTSW |
16 |
22,806,270 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1765:Kng2
|
UTSW |
16 |
22,806,993 (GRCm39) |
critical splice donor site |
probably null |
|
|
R1833:Kng2
|
UTSW |
16 |
22,830,802 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R1997:Kng2
|
UTSW |
16 |
22,843,626 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
R2025:Kng2
|
UTSW |
16 |
22,819,325 (GRCm39) |
missense |
probably benign |
0.15 |
|
R2056:Kng2
|
UTSW |
16 |
22,806,703 (GRCm39) |
intron |
probably benign |
|
|
R2137:Kng2
|
UTSW |
16 |
22,816,076 (GRCm39) |
intron |
probably benign |
|
|
R3438:Kng2
|
UTSW |
16 |
22,830,821 (GRCm39) |
missense |
probably benign |
0.23 |
|
R3439:Kng2
|
UTSW |
16 |
22,830,821 (GRCm39) |
missense |
probably benign |
0.23 |
|
R3551:Kng2
|
UTSW |
16 |
22,830,745 (GRCm39) |
critical splice donor site |
probably null |
|
|
R4389:Kng2
|
UTSW |
16 |
22,843,618 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R4538:Kng2
|
UTSW |
16 |
22,806,813 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4684:Kng2
|
UTSW |
16 |
22,806,391 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R4978:Kng2
|
UTSW |
16 |
22,806,666 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5658:Kng2
|
UTSW |
16 |
22,815,770 (GRCm39) |
splice site |
probably null |
|
|
R6074:Kng2
|
UTSW |
16 |
22,819,346 (GRCm39) |
missense |
probably benign |
0.03 |
|
R6216:Kng2
|
UTSW |
16 |
22,806,343 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6271:Kng2
|
UTSW |
16 |
22,822,698 (GRCm39) |
missense |
probably benign |
0.33 |
|
R6459:Kng2
|
UTSW |
16 |
22,830,865 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7124:Kng2
|
UTSW |
16 |
22,830,805 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7310:Kng2
|
UTSW |
16 |
22,806,522 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7532:Kng2
|
UTSW |
16 |
22,845,794 (GRCm39) |
splice site |
probably null |
|
|
R7667:Kng2
|
UTSW |
16 |
22,806,982 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7787:Kng2
|
UTSW |
16 |
22,818,598 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8092:Kng2
|
UTSW |
16 |
22,806,672 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8165:Kng2
|
UTSW |
16 |
22,806,246 (GRCm39) |
missense |
unknown |
|
|
R8814:Kng2
|
UTSW |
16 |
22,822,761 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9019:Kng2
|
UTSW |
16 |
22,847,546 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9048:Kng2
|
UTSW |
16 |
22,806,522 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9531:Kng2
|
UTSW |
16 |
22,830,907 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R9708:Kng2
|
UTSW |
16 |
22,815,801 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9764:Kng2
|
UTSW |
16 |
22,822,737 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- TCATGACCATACTTATGACCACTGTG -3'
(R):5'- AGCAGCCCCTTTTAAAGTGAGTC -3'
Sequencing Primer
(F):5'- ATGACCACTGTGATTCTTAGCC -3'
(R):5'- CCTTTTAAAGTGAGTCGGGCACAC -3'
|
| Posted On |
2014-12-04 |
Incidental Mutation