Incidental Mutation 'R9764:Kng2'
| ID |
733173 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Kng2
|
| Ensembl Gene |
ENSMUSG00000060459 |
| Gene Name |
kininogen 2 |
| Synonyms |
Kininogen-II |
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R9764 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
16 |
| Chromosomal Location |
22804602-22847851 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 22822737 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Cysteine to Phenylalanine
at position 205
(C205F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000097623
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000039338]
[ENSMUST00000100046]
[ENSMUST00000115349]
[ENSMUST00000160243]
[ENSMUST00000232459]
|
| AlphaFold |
Q6S9I3 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000039338
AA Change: C205F
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000046867
Gene: ENSMUSG00000060459
AA Change: C205F
| 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: C205F
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000097623
Gene: ENSMUSG00000060459
AA Change: C205F
| 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 damaging
Transcript: ENSMUST00000115349
AA Change: C205F
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000111006
Gene: ENSMUSG00000060459
AA Change: C205F
| 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 damaging
Transcript: ENSMUST00000232459
AA Change: C141F
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 99.3%
- 20x: 98.4%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 59 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700029F12Rik |
T |
C |
13: 97,166,738 (GRCm39) |
T93A |
unknown |
Het |
| Adgrg6 |
T |
A |
10: 14,302,515 (GRCm39) |
H938L |
probably benign |
Het |
| Aff1 |
A |
G |
5: 103,997,365 (GRCm39) |
Y1153C |
probably damaging |
Het |
| Akr1c20 |
T |
A |
13: 4,564,388 (GRCm39) |
I42L |
probably benign |
Het |
| Atad2b |
T |
A |
12: 5,082,064 (GRCm39) |
N1324K |
probably benign |
Het |
| Aurka |
T |
A |
2: 172,201,760 (GRCm39) |
I270F |
probably damaging |
Het |
| Camk2g |
A |
T |
14: 20,815,498 (GRCm39) |
D189E |
probably damaging |
Het |
| Cc2d2b |
A |
G |
19: 40,804,299 (GRCm39) |
D942G |
unknown |
Het |
| Ccnd1 |
A |
C |
7: 144,491,770 (GRCm39) |
S90A |
probably benign |
Het |
| Cfap77 |
G |
T |
2: 28,852,741 (GRCm39) |
T177K |
probably damaging |
Het |
| Chd9 |
A |
G |
8: 91,721,220 (GRCm39) |
N1003D |
unknown |
Het |
| Chga |
C |
G |
12: 102,525,613 (GRCm39) |
Q85E |
possibly damaging |
Het |
| Cnot1 |
T |
C |
8: 96,496,209 (GRCm39) |
S322G |
probably benign |
Het |
| Cyp8b1 |
C |
A |
9: 121,744,294 (GRCm39) |
S346I |
probably benign |
Het |
| Cysltr2 |
T |
A |
14: 73,266,906 (GRCm39) |
H268L |
probably damaging |
Het |
| Dnah11 |
T |
C |
12: 117,884,704 (GRCm39) |
T3783A |
probably benign |
Het |
| Dock3 |
C |
T |
9: 106,959,713 (GRCm39) |
V109I |
probably benign |
Het |
| Dscc1 |
A |
G |
15: 54,953,674 (GRCm39) |
C50R |
probably benign |
Het |
| Dtx3l |
T |
A |
16: 35,753,277 (GRCm39) |
D443V |
probably damaging |
Het |
| Ephb6 |
A |
G |
6: 41,592,911 (GRCm39) |
H383R |
probably benign |
Het |
| Fdft1 |
A |
G |
14: 63,400,869 (GRCm39) |
I88T |
probably damaging |
Het |
| Fmo3 |
C |
A |
1: 162,794,524 (GRCm39) |
W182L |
probably benign |
Het |
| Folh1 |
T |
A |
7: 86,406,158 (GRCm39) |
Q305L |
probably benign |
Het |
| Gale |
C |
T |
4: 135,692,975 (GRCm39) |
Q73* |
probably null |
Het |
| Gm9195 |
T |
C |
14: 72,699,885 (GRCm39) |
M1154V |
unknown |
Het |
| Grip1 |
G |
A |
10: 119,874,569 (GRCm39) |
E778K |
possibly damaging |
Het |
| Gtsf1l |
T |
C |
2: 162,929,052 (GRCm39) |
T144A |
probably benign |
Het |
| Itpkc |
T |
C |
7: 26,927,222 (GRCm39) |
T231A |
probably benign |
Het |
| Ldlrap1 |
T |
G |
4: 134,476,661 (GRCm39) |
N244T |
probably benign |
Het |
| Lingo2 |
A |
G |
4: 35,709,750 (GRCm39) |
F77L |
possibly damaging |
Het |
| Lpcat2b |
A |
T |
5: 107,581,438 (GRCm39) |
T256S |
possibly damaging |
Het |
| Lrit2 |
A |
G |
14: 36,790,936 (GRCm39) |
D205G |
probably damaging |
Het |
| Lrrc34 |
T |
C |
3: 30,697,467 (GRCm39) |
D88G |
probably damaging |
Het |
| Macf1 |
T |
C |
4: 123,366,136 (GRCm39) |
E2875G |
probably benign |
Het |
| Med13 |
G |
T |
11: 86,177,345 (GRCm39) |
Q1584K |
possibly damaging |
Het |
| Naip5 |
C |
G |
13: 100,367,269 (GRCm39) |
A276P |
probably damaging |
Het |
| Ndufv2 |
A |
G |
17: 66,394,503 (GRCm39) |
Y121H |
probably damaging |
Het |
| Or4f52 |
T |
A |
2: 111,061,521 (GRCm39) |
I206F |
probably damaging |
Het |
| Peg12 |
T |
C |
7: 62,113,297 (GRCm39) |
T267A |
unknown |
Het |
| Pkig |
A |
G |
2: 163,567,375 (GRCm39) |
|
probably null |
Het |
| Prkch |
C |
G |
12: 73,747,078 (GRCm39) |
T319S |
probably benign |
Het |
| Rhobtb1 |
T |
C |
10: 69,115,202 (GRCm39) |
S534P |
probably damaging |
Het |
| Riok2 |
A |
G |
17: 17,607,814 (GRCm39) |
N454S |
probably benign |
Het |
| Ryr2 |
T |
A |
13: 11,701,935 (GRCm39) |
K2907N |
possibly damaging |
Het |
| Sdc3 |
C |
T |
4: 130,546,048 (GRCm39) |
P136S |
unknown |
Het |
| Slc37a3 |
G |
A |
6: 39,322,844 (GRCm39) |
L371F |
probably damaging |
Het |
| Slc3a1 |
A |
T |
17: 85,371,419 (GRCm39) |
H657L |
probably damaging |
Het |
| Slc7a13 |
T |
A |
4: 19,819,033 (GRCm39) |
Y78N |
probably benign |
Het |
| Slfn8 |
G |
T |
11: 82,907,838 (GRCm39) |
A235E |
probably damaging |
Het |
| Snap91 |
T |
A |
9: 86,707,094 (GRCm39) |
D232V |
possibly damaging |
Het |
| Stap2 |
C |
A |
17: 56,309,914 (GRCm39) |
S79I |
probably damaging |
Het |
| Stra6l |
T |
C |
4: 45,884,602 (GRCm39) |
V544A |
probably damaging |
Het |
| Syn2 |
T |
C |
6: 115,251,219 (GRCm39) |
|
probably null |
Het |
| Tctn1 |
G |
A |
5: 122,388,527 (GRCm39) |
P284S |
possibly damaging |
Het |
| Terb2 |
G |
A |
2: 122,018,475 (GRCm39) |
M77I |
probably benign |
Het |
| Trim80 |
G |
T |
11: 115,338,757 (GRCm39) |
R529L |
possibly damaging |
Het |
| Washc2 |
T |
C |
6: 116,186,048 (GRCm39) |
L86P |
possibly damaging |
Het |
| Zfp74 |
A |
T |
7: 29,631,845 (GRCm39) |
F133Y |
probably benign |
Het |
| Zfp987 |
T |
A |
4: 146,060,752 (GRCm39) |
N61K |
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- GCAACTTAGGTCCTAAGATTCTGGG -3'
(R):5'- GCTCAGTGATGCTATTGCCC -3'
Sequencing Primer
(F):5'- CCTAAGATTCTGGGGTGGACC -3'
(R):5'- GCTATTGCCCAGTAATAATGAAGG -3'
|
| Posted On |
2022-11-14 |
Incidental Mutation