Incidental Mutation 'R6271:Kng2'
| ID |
507363 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Kng2
|
| Ensembl Gene |
ENSMUSG00000060459 |
| Gene Name |
kininogen 2 |
| Synonyms |
Kininogen-II |
| MMRRC Submission |
044379-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6271 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
16 |
| Chromosomal Location |
22804602-22847851 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 22822698 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Glutamic Acid
at position 218
(V218E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000097623
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000039338]
[ENSMUST00000100046]
[ENSMUST00000115349]
[ENSMUST00000160243]
[ENSMUST00000232459]
|
| AlphaFold |
Q6S9I3 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000039338
AA Change: V218E
PolyPhen 2
Score 0.101 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000046867
Gene: ENSMUSG00000060459
AA Change: V218E
| 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: V218E
PolyPhen 2
Score 0.334 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000097623
Gene: ENSMUSG00000060459
AA Change: V218E
| 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: V218E
PolyPhen 2
Score 0.046 (Sensitivity: 0.94; Specificity: 0.83)
|
| SMART Domains |
Protein: ENSMUSP00000111006
Gene: ENSMUSG00000060459
AA Change: V218E
| 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 |
probably benign
Transcript: ENSMUST00000231872
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000232459
AA Change: V154E
PolyPhen 2
Score 0.046 (Sensitivity: 0.94; Specificity: 0.83)
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.1%
- 20x: 94.4%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 61 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ahdc1 |
G |
T |
4: 132,792,035 (GRCm39) |
C1092F |
possibly damaging |
Het |
| Aplf |
T |
C |
6: 87,623,230 (GRCm39) |
E304G |
possibly damaging |
Het |
| Atp12a |
A |
G |
14: 56,615,879 (GRCm39) |
D547G |
probably benign |
Het |
| B3gat2 |
T |
C |
1: 23,854,342 (GRCm39) |
L212P |
probably damaging |
Het |
| Babam2 |
G |
T |
5: 32,158,706 (GRCm39) |
A219S |
probably damaging |
Het |
| Ccdc18 |
A |
C |
5: 108,322,753 (GRCm39) |
S618R |
possibly damaging |
Het |
| Ces2c |
G |
A |
8: 105,578,748 (GRCm39) |
G342D |
probably damaging |
Het |
| Cfap57 |
A |
C |
4: 118,452,956 (GRCm39) |
D582E |
probably benign |
Het |
| Cisd2 |
T |
C |
3: 135,114,627 (GRCm39) |
N115D |
possibly damaging |
Het |
| Cyp17a1 |
A |
G |
19: 46,661,159 (GRCm39) |
F42L |
probably benign |
Het |
| Fam234a |
T |
C |
17: 26,437,211 (GRCm39) |
D156G |
probably benign |
Het |
| Fer1l6 |
T |
A |
15: 58,513,767 (GRCm39) |
I1554K |
probably benign |
Het |
| Fv1 |
A |
G |
4: 147,954,474 (GRCm39) |
T347A |
possibly damaging |
Het |
| Gm5134 |
T |
A |
10: 75,831,643 (GRCm39) |
C361S |
probably benign |
Het |
| Grin3a |
T |
C |
4: 49,792,516 (GRCm39) |
I406V |
probably benign |
Het |
| Hyls1 |
G |
A |
9: 35,472,480 (GRCm39) |
S312F |
probably benign |
Het |
| Ifna13 |
A |
C |
4: 88,562,082 (GRCm39) |
L181V |
possibly damaging |
Het |
| Irx4 |
A |
G |
13: 73,414,713 (GRCm39) |
|
probably null |
Het |
| Kcna3 |
T |
A |
3: 106,944,922 (GRCm39) |
M395K |
probably damaging |
Het |
| Kcnma1 |
A |
T |
14: 23,559,957 (GRCm39) |
V347D |
probably damaging |
Het |
| Krt36 |
G |
A |
11: 99,995,298 (GRCm39) |
Q167* |
probably null |
Het |
| Lama2 |
T |
C |
10: 26,899,325 (GRCm39) |
D2457G |
possibly damaging |
Het |
| Ldah |
G |
A |
12: 8,318,599 (GRCm39) |
|
probably null |
Het |
| Lhfpl3 |
G |
T |
5: 22,951,242 (GRCm39) |
A18S |
probably benign |
Het |
| Lrrk1 |
A |
G |
7: 65,956,851 (GRCm39) |
|
probably null |
Het |
| Ltv1 |
T |
C |
10: 13,055,445 (GRCm39) |
Y352C |
probably damaging |
Het |
| Lyst |
G |
T |
13: 13,833,339 (GRCm39) |
M1720I |
probably benign |
Het |
| Mkx |
A |
T |
18: 6,937,059 (GRCm39) |
|
probably null |
Het |
| Myo18a |
A |
G |
11: 77,711,635 (GRCm39) |
H626R |
probably damaging |
Het |
| Nop9 |
A |
C |
14: 55,991,198 (GRCm39) |
Q618H |
probably damaging |
Het |
| Or12k5 |
T |
C |
2: 36,895,554 (GRCm39) |
Q24R |
probably damaging |
Het |
| Or4c12b |
T |
C |
2: 89,646,906 (GRCm39) |
S73P |
probably damaging |
Het |
| Or7g32 |
A |
G |
9: 19,389,337 (GRCm39) |
S67P |
probably damaging |
Het |
| Or8c9 |
T |
C |
9: 38,241,578 (GRCm39) |
S232P |
probably benign |
Het |
| Otog |
C |
A |
7: 45,901,464 (GRCm39) |
Q388K |
probably damaging |
Het |
| Otx1 |
C |
A |
11: 21,947,037 (GRCm39) |
A91S |
probably damaging |
Het |
| Oxct2b |
T |
G |
4: 123,011,508 (GRCm39) |
V476G |
probably damaging |
Het |
| Parp10 |
T |
C |
15: 76,126,202 (GRCm39) |
T329A |
probably benign |
Het |
| Pcdhga5 |
T |
C |
18: 37,829,735 (GRCm39) |
S728P |
probably benign |
Het |
| Piezo1 |
G |
T |
8: 123,221,671 (GRCm39) |
H574Q |
probably damaging |
Het |
| Pnpla1 |
G |
A |
17: 29,100,342 (GRCm39) |
G403E |
probably benign |
Het |
| Preb |
C |
A |
5: 31,115,395 (GRCm39) |
V255F |
probably damaging |
Het |
| Prmt9 |
A |
G |
8: 78,304,092 (GRCm39) |
N725S |
probably damaging |
Het |
| Ric1 |
A |
T |
19: 29,544,765 (GRCm39) |
|
probably null |
Het |
| Semp2l1 |
T |
A |
1: 32,584,572 (GRCm39) |
D446V |
probably damaging |
Het |
| Serinc3 |
G |
C |
2: 163,472,896 (GRCm39) |
L245V |
probably benign |
Het |
| Sgce |
T |
C |
6: 4,730,015 (GRCm39) |
K70E |
possibly damaging |
Het |
| Simc1 |
T |
G |
13: 54,687,537 (GRCm39) |
V102G |
probably damaging |
Het |
| Slc66a3 |
T |
C |
12: 17,047,704 (GRCm39) |
D76G |
probably damaging |
Het |
| Smyd2 |
A |
G |
1: 189,616,049 (GRCm39) |
Y362H |
probably damaging |
Het |
| Sptbn1 |
G |
T |
11: 30,050,660 (GRCm39) |
H2310N |
probably benign |
Het |
| Syne1 |
T |
C |
10: 5,184,652 (GRCm39) |
Y4077C |
probably damaging |
Het |
| Syne2 |
C |
A |
12: 75,937,155 (GRCm39) |
A251E |
probably damaging |
Het |
| Taok1 |
A |
T |
11: 77,464,609 (GRCm39) |
L159Q |
probably damaging |
Het |
| Tasor2 |
C |
T |
13: 3,631,891 (GRCm39) |
R870H |
possibly damaging |
Het |
| Timeless |
T |
C |
10: 128,086,593 (GRCm39) |
L1043P |
probably damaging |
Het |
| Tmprss3 |
T |
C |
17: 31,405,536 (GRCm39) |
E352G |
probably damaging |
Het |
| Trav6-4 |
A |
T |
14: 53,692,039 (GRCm39) |
T46S |
probably benign |
Het |
| Ubiad1 |
A |
T |
4: 148,521,083 (GRCm39) |
Y180* |
probably null |
Het |
| Usp47 |
A |
G |
7: 111,686,263 (GRCm39) |
E627G |
probably damaging |
Het |
| Vmn2r124 |
A |
G |
17: 18,283,145 (GRCm39) |
T280A |
probably benign |
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 |
|
|
R2517:Kng2
|
UTSW |
16 |
22,807,065 (GRCm39) |
missense |
probably benign |
0.24 |
|
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 |
|
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'- GACACACTTGGATGCCTTGG -3'
(R):5'- GCTATTGCCCAGTAATAATGAAGG -3'
Sequencing Primer
(F):5'- TTGGCCAGCAACTTAGGTCCTAAG -3'
(R):5'- GCCCAGTAATAATGAAGGTTTGTAC -3'
|
| Posted On |
2018-03-15 |
Incidental Mutation