Incidental Mutation 'R9708:Kng2'
| ID |
729921 |
| 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 # |
R9708 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
16 |
| Chromosomal Location |
22804602-22847851 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 22815801 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Proline to Glutamine
at position 365
(P365Q)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000097623
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000039338]
[ENSMUST00000100046]
[ENSMUST00000115349]
[ENSMUST00000160243]
|
| AlphaFold |
Q6S9I3 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000039338
AA Change: P365Q
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000046867
Gene: ENSMUSG00000060459
AA Change: P365Q
| 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: P365Q
PolyPhen 2
Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000097623
Gene: ENSMUSG00000060459
AA Change: P365Q
| 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: P365Q
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000111006
Gene: ENSMUSG00000060459
AA Change: P365Q
| 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 |
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.8%
- 10x: 99.1%
- 20x: 97.6%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 55 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc1 |
A |
T |
16: 14,254,417 (GRCm39) |
N576I |
probably damaging |
Het |
| Acss1 |
G |
T |
2: 150,471,752 (GRCm39) |
T334K |
probably damaging |
Het |
| Alox5 |
A |
G |
6: 116,392,537 (GRCm39) |
L328P |
probably damaging |
Het |
| Armc2 |
A |
T |
10: 41,839,744 (GRCm39) |
M407K |
possibly damaging |
Het |
| Asb3 |
A |
T |
11: 31,051,075 (GRCm39) |
I471F |
probably benign |
Het |
| Asph |
G |
A |
4: 9,542,233 (GRCm39) |
R335W |
probably damaging |
Het |
| B4galnt4 |
A |
G |
7: 140,647,657 (GRCm39) |
E415G |
probably benign |
Het |
| Btn2a2 |
G |
A |
13: 23,662,907 (GRCm39) |
P348S |
possibly damaging |
Het |
| Catsper2 |
A |
G |
2: 121,237,321 (GRCm39) |
V193A |
possibly damaging |
Het |
| Ccdc112 |
G |
A |
18: 46,444,780 (GRCm39) |
A33V |
probably benign |
Het |
| Cfap221 |
T |
A |
1: 119,860,619 (GRCm39) |
Y669F |
probably damaging |
Het |
| D030056L22Rik |
T |
G |
19: 18,690,776 (GRCm39) |
L30R |
possibly damaging |
Het |
| Fanca |
C |
A |
8: 124,001,263 (GRCm39) |
G1091* |
probably null |
Het |
| Foxl1 |
A |
G |
8: 121,855,077 (GRCm39) |
D126G |
possibly damaging |
Het |
| Gba1 |
T |
C |
3: 89,112,801 (GRCm39) |
S148P |
probably damaging |
Het |
| Gem |
G |
A |
4: 11,711,154 (GRCm39) |
R115H |
possibly damaging |
Het |
| Gm4924 |
T |
G |
10: 82,214,992 (GRCm39) |
L930R |
unknown |
Het |
| Iqgap3 |
C |
A |
3: 88,016,176 (GRCm39) |
F986L |
probably damaging |
Het |
| Irx5 |
A |
T |
8: 93,087,118 (GRCm39) |
D350V |
probably benign |
Het |
| Lrp4 |
A |
T |
2: 91,342,076 (GRCm39) |
E1896D |
probably benign |
Het |
| Lrrk2 |
C |
A |
15: 91,634,482 (GRCm39) |
Y1415* |
probably null |
Het |
| Map2k7 |
C |
A |
8: 4,295,806 (GRCm39) |
H429N |
probably benign |
Het |
| Mogat1 |
T |
A |
1: 78,488,633 (GRCm39) |
L12Q |
probably damaging |
Het |
| Mov10 |
C |
T |
3: 104,704,613 (GRCm39) |
R766H |
probably benign |
Het |
| Mthfr |
G |
T |
4: 148,128,978 (GRCm39) |
E225* |
probably null |
Het |
| Mtmr11 |
T |
C |
3: 96,076,403 (GRCm39) |
F453L |
possibly damaging |
Het |
| Naip2 |
T |
C |
13: 100,298,087 (GRCm39) |
N650D |
probably damaging |
Het |
| Nek3 |
C |
T |
8: 22,618,742 (GRCm39) |
G497R |
unknown |
Het |
| Nol4 |
G |
T |
18: 22,828,053 (GRCm39) |
A337E |
probably damaging |
Het |
| Nrxn2 |
A |
G |
19: 6,581,882 (GRCm39) |
T1606A |
probably benign |
Het |
| Odad2 |
G |
T |
18: 7,288,633 (GRCm39) |
T78K |
probably benign |
Het |
| Or2ab1 |
G |
A |
11: 58,488,927 (GRCm39) |
R229H |
probably benign |
Het |
| Or4a71 |
T |
C |
2: 89,358,214 (GRCm39) |
N180S |
probably benign |
Het |
| Or5b124 |
G |
A |
19: 13,610,760 (GRCm39) |
C95Y |
probably damaging |
Het |
| Or5p6 |
T |
C |
7: 107,631,259 (GRCm39) |
Y97C |
probably benign |
Het |
| Paox |
C |
T |
7: 139,712,359 (GRCm39) |
R197* |
probably null |
Het |
| Pcdha8 |
A |
G |
18: 37,125,548 (GRCm39) |
D10G |
probably benign |
Het |
| Pde6h |
T |
G |
6: 136,936,359 (GRCm39) |
F34C |
probably damaging |
Het |
| Phkb |
T |
G |
8: 86,783,119 (GRCm39) |
S972A |
probably benign |
Het |
| Pik3c2g |
T |
A |
6: 139,606,865 (GRCm39) |
M304K |
probably benign |
Het |
| Rnf144b |
A |
G |
13: 47,397,912 (GRCm39) |
I281V |
probably damaging |
Het |
| Robo2 |
C |
T |
16: 73,770,197 (GRCm39) |
G509E |
possibly damaging |
Het |
| Sap30l |
A |
G |
11: 57,696,936 (GRCm39) |
R89G |
probably damaging |
Het |
| Scrn2 |
C |
T |
11: 96,922,928 (GRCm39) |
R124W |
probably damaging |
Het |
| Shcbp1l |
A |
T |
1: 153,328,011 (GRCm39) |
N574I |
probably damaging |
Het |
| Slfn8 |
T |
C |
11: 82,894,267 (GRCm39) |
I791V |
probably benign |
Het |
| Stard13 |
C |
T |
5: 150,986,961 (GRCm39) |
S183N |
possibly damaging |
Het |
| Tent5a |
A |
G |
9: 85,207,267 (GRCm39) |
M177T |
possibly damaging |
Het |
| Tpbg |
A |
G |
9: 85,726,574 (GRCm39) |
N181S |
probably benign |
Het |
| Tsc22d1 |
T |
A |
14: 76,654,664 (GRCm39) |
V381D |
possibly damaging |
Het |
| Uhrf1 |
A |
G |
17: 56,629,357 (GRCm39) |
D735G |
probably benign |
Het |
| Vmn2r13 |
T |
A |
5: 109,322,007 (GRCm39) |
D230V |
probably benign |
Het |
| Vwf |
T |
A |
6: 125,634,053 (GRCm39) |
V2116E |
|
Het |
| Zfp616 |
G |
A |
11: 73,976,283 (GRCm39) |
G851S |
probably damaging |
Het |
| Zranb1 |
G |
T |
7: 132,584,600 (GRCm39) |
E623* |
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 |
|
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 |
|
R9764:Kng2
|
UTSW |
16 |
22,822,737 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- GCTGACAATGAGCTAAGTGACTG -3'
(R):5'- ATCAAGCACCTTGGAGTGAGTAG -3'
Sequencing Primer
(F):5'- TGAGCTAAGTGACTGAATGGTTACC -3'
(R):5'- AGTAGCACTGTCCCTGTGTGAC -3'
|
| Posted On |
2022-10-06 |
Incidental Mutation