Incidental Mutation 'R4978:Kng2'
| ID |
384629 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Kng2
|
| Ensembl Gene |
ENSMUSG00000060459 |
| Gene Name |
kininogen 2 |
| Synonyms |
Kininogen-II |
| MMRRC Submission |
042573-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R4978 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
16 |
| Chromosomal Location |
22804602-22847851 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 22806666 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Isoleucine
at position 511
(N511I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000097623
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000039338]
[ENSMUST00000100046]
[ENSMUST00000115349]
[ENSMUST00000160243]
|
| AlphaFold |
Q6S9I3 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000039338
|
| SMART Domains |
Protein: ENSMUSP00000046867
Gene: ENSMUSG00000060459
| 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 damaging
Transcript: ENSMUST00000100046
AA Change: N511I
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000097623
Gene: ENSMUSG00000060459
AA Change: N511I
| 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
|
| SMART Domains |
Protein: ENSMUSP00000111006
Gene: ENSMUSG00000060459
| 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
|
| Meta Mutation Damage Score |
0.0866 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.8%
- 20x: 93.9%
|
| Validation Efficiency |
96% (70/73) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 63 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam29 |
G |
A |
8: 56,324,436 (GRCm39) |
P673S |
probably damaging |
Het |
| Adam39 |
T |
C |
8: 41,278,374 (GRCm39) |
I255T |
possibly damaging |
Het |
| Adgrg6 |
A |
G |
10: 14,296,205 (GRCm39) |
F1093S |
probably damaging |
Het |
| Amer3 |
A |
G |
1: 34,618,381 (GRCm39) |
|
probably benign |
Het |
| Avil |
A |
T |
10: 126,854,265 (GRCm39) |
N744I |
probably benign |
Het |
| B430305J03Rik |
T |
C |
3: 61,271,440 (GRCm39) |
|
probably benign |
Het |
| Caps2 |
A |
T |
10: 112,018,399 (GRCm39) |
Q141L |
probably benign |
Het |
| Capza2 |
T |
A |
6: 17,662,114 (GRCm39) |
D201E |
probably null |
Het |
| Ccdc7b |
T |
C |
8: 129,836,688 (GRCm39) |
|
probably null |
Het |
| Clcn6 |
C |
T |
4: 148,093,227 (GRCm39) |
V818I |
probably benign |
Het |
| Cpeb4 |
C |
T |
11: 31,881,509 (GRCm39) |
H723Y |
probably null |
Het |
| Cspp1 |
T |
A |
1: 10,153,742 (GRCm39) |
F384I |
possibly damaging |
Het |
| Cyp2c50 |
T |
G |
19: 40,086,501 (GRCm39) |
V355G |
probably damaging |
Het |
| Dnase1l1 |
C |
T |
X: 73,320,644 (GRCm39) |
|
probably null |
Homo |
| Dpys |
A |
T |
15: 39,690,332 (GRCm39) |
D340E |
possibly damaging |
Het |
| Dsp |
T |
A |
13: 38,366,210 (GRCm39) |
L548Q |
probably damaging |
Het |
| Dyrk2 |
A |
T |
10: 118,696,252 (GRCm39) |
D335E |
probably benign |
Het |
| Etaa1 |
T |
C |
11: 17,896,581 (GRCm39) |
D512G |
probably damaging |
Het |
| Fam210b |
G |
C |
2: 172,187,585 (GRCm39) |
A2P |
probably damaging |
Het |
| Fbxo9 |
G |
A |
9: 77,993,168 (GRCm39) |
|
probably benign |
Het |
| Fh1 |
A |
T |
1: 175,431,533 (GRCm39) |
M451K |
probably damaging |
Het |
| Flrt1 |
A |
G |
19: 7,074,241 (GRCm39) |
L102P |
probably damaging |
Het |
| Gins2 |
A |
G |
8: 121,315,550 (GRCm39) |
L40S |
possibly damaging |
Het |
| Gm5436 |
G |
A |
12: 84,305,461 (GRCm39) |
|
noncoding transcript |
Het |
| Gm7298 |
T |
G |
6: 121,710,076 (GRCm39) |
|
probably null |
Het |
| Gm7353 |
A |
G |
7: 3,160,038 (GRCm39) |
|
noncoding transcript |
Het |
| Gramd1a |
T |
C |
7: 30,832,213 (GRCm39) |
E608G |
possibly damaging |
Het |
| Hcls1 |
T |
C |
16: 36,758,222 (GRCm39) |
W38R |
probably damaging |
Het |
| Ik |
C |
T |
18: 36,880,468 (GRCm39) |
P51S |
possibly damaging |
Het |
| Irx1 |
A |
G |
13: 72,111,604 (GRCm39) |
S2P |
possibly damaging |
Het |
| Limk2 |
G |
T |
11: 3,359,069 (GRCm39) |
|
probably benign |
Het |
| Map1a |
T |
G |
2: 121,131,623 (GRCm39) |
V813G |
probably benign |
Het |
| Mast1 |
T |
C |
8: 85,662,416 (GRCm39) |
T31A |
probably damaging |
Het |
| N4bp2 |
T |
C |
5: 65,947,583 (GRCm39) |
F71S |
probably damaging |
Het |
| Neurod1 |
C |
T |
2: 79,284,571 (GRCm39) |
G271R |
probably damaging |
Het |
| Or52x1 |
T |
C |
7: 104,853,398 (GRCm39) |
I51V |
probably benign |
Het |
| Pcdhb22 |
A |
G |
18: 37,651,654 (GRCm39) |
T41A |
probably benign |
Het |
| Pclo |
T |
A |
5: 14,764,492 (GRCm39) |
S4322T |
probably benign |
Het |
| Pde9a |
T |
A |
17: 31,692,197 (GRCm39) |
D497E |
probably benign |
Het |
| Plaa |
A |
G |
4: 94,478,169 (GRCm39) |
S98P |
possibly damaging |
Het |
| Prl2c1 |
A |
G |
13: 28,041,553 (GRCm39) |
T192A |
probably benign |
Het |
| Ptpn18 |
T |
C |
1: 34,508,894 (GRCm39) |
|
probably benign |
Het |
| Rab27b |
C |
T |
18: 70,127,585 (GRCm39) |
V68I |
probably benign |
Het |
| Reep5 |
A |
G |
18: 34,506,349 (GRCm39) |
F9S |
probably damaging |
Het |
| Scaf11 |
T |
C |
15: 96,313,798 (GRCm39) |
N1328D |
probably damaging |
Het |
| Slc25a13 |
G |
A |
6: 6,042,300 (GRCm39) |
S626F |
probably damaging |
Het |
| Smg1 |
A |
G |
7: 117,753,470 (GRCm39) |
|
probably benign |
Het |
| Spock2 |
T |
A |
10: 59,966,911 (GRCm39) |
F332I |
probably benign |
Het |
| Tep1 |
C |
T |
14: 51,082,891 (GRCm39) |
R1039Q |
possibly damaging |
Het |
| Thap1 |
AGCAGCATCTGCTCG |
AG |
8: 26,650,882 (GRCm39) |
|
probably null |
Het |
| Tradd |
T |
C |
8: 105,985,900 (GRCm39) |
Q217R |
probably benign |
Het |
| Umodl1 |
T |
C |
17: 31,205,055 (GRCm39) |
I550T |
probably benign |
Het |
| Vgll3 |
T |
A |
16: 65,612,572 (GRCm39) |
Y18* |
probably null |
Het |
| Vmn1r49 |
G |
T |
6: 90,049,872 (GRCm39) |
N43K |
probably benign |
Het |
| Vps50 |
A |
G |
6: 3,517,808 (GRCm39) |
N82S |
probably benign |
Het |
| Vstm2a |
A |
G |
11: 16,211,460 (GRCm39) |
D90G |
possibly damaging |
Het |
| Vwa3b |
A |
G |
1: 37,154,752 (GRCm39) |
Y512C |
probably damaging |
Het |
| Wrnip1 |
A |
G |
13: 33,000,295 (GRCm39) |
D434G |
probably damaging |
Het |
| Zan |
C |
T |
5: 137,405,183 (GRCm39) |
|
probably benign |
Het |
| Zfp286 |
A |
G |
11: 62,679,754 (GRCm39) |
|
probably null |
Het |
| Zkscan17 |
A |
G |
11: 59,384,053 (GRCm39) |
V123A |
possibly damaging |
Het |
| Zkscan2 |
C |
G |
7: 123,094,542 (GRCm39) |
A211P |
possibly damaging |
Het |
| Zswim4 |
C |
T |
8: 84,953,296 (GRCm39) |
|
probably null |
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 |
|
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'- GAAATCTGAGTCCTGAAAGCCAG -3'
(R):5'- TGACCATGCACATTGGTCCC -3'
Sequencing Primer
(F):5'- TCTGAGTCCTGAAAGCCAGAAGAG -3'
(R):5'- ATGCACATTGGTCCCCAAGGAG -3'
|
| Posted On |
2016-05-10 |
Incidental Mutation