Incidental Mutation 'R8151:Kras'
| ID |
632953 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Kras
|
| Ensembl Gene |
ENSMUSG00000030265 |
| Gene Name |
Kirsten rat sarcoma viral oncogene homolog |
| Synonyms |
Kras2, Kras-2, K-ras, Ki-ras |
| MMRRC Submission |
067577-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R8151 (G1)
|
| Quality Score |
110.467 |
|
Status
|
Not validated
|
| Chromosome |
6 |
| Chromosomal Location |
145162425-145195965 bp(-) (GRCm39) |
| Type of Mutation |
small deletion (1 aa in frame mutation) |
| DNA Base Change (assembly) |
ACTTCTTCTTCTTCTTCTTC to ACTTCTTCTTCTTCTTC
at 145166360 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000145294
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000032399]
[ENSMUST00000039729]
[ENSMUST00000111710]
[ENSMUST00000111719]
[ENSMUST00000111721]
[ENSMUST00000111723]
[ENSMUST00000111724]
[ENSMUST00000111725]
[ENSMUST00000111726]
[ENSMUST00000156486]
[ENSMUST00000203147]
|
| AlphaFold |
P32883 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000032399
|
| SMART Domains |
Protein: ENSMUSP00000032399
Gene: ENSMUSG00000030265
| Domain | Start | End | E-Value | Type |
|---|
|
RAS
|
1 |
166 |
1.14e-123 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000039729
|
| SMART Domains |
Protein: ENSMUSP00000039433
Gene: ENSMUSG00000040370
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Complex1_LYR
|
7 |
63 |
2.6e-15 |
PFAM |
|
Pfam:Complex1_LYR_1
|
7 |
74 |
3.6e-14 |
PFAM |
|
Pfam:Complex1_LYR_2
|
9 |
85 |
8.2e-9 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000111710
|
| SMART Domains |
Protein: ENSMUSP00000107339
Gene: ENSMUSG00000030265
| Domain | Start | End | E-Value | Type |
|---|
|
RAS
|
1 |
166 |
3.7e-123 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000111719
|
| SMART Domains |
Protein: ENSMUSP00000107348
Gene: ENSMUSG00000040370
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Complex1_LYR
|
7 |
63 |
2.6e-15 |
PFAM |
|
Pfam:Complex1_LYR_1
|
7 |
74 |
3.6e-14 |
PFAM |
|
Pfam:Complex1_LYR_2
|
9 |
85 |
8.2e-9 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000111721
|
| SMART Domains |
Protein: ENSMUSP00000107350
Gene: ENSMUSG00000040370
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Complex1_LYR
|
7 |
63 |
5.5e-15 |
PFAM |
|
Pfam:Complex1_LYR_1
|
7 |
67 |
5.5e-15 |
PFAM |
|
Pfam:Complex1_LYR_2
|
9 |
85 |
9.2e-9 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000111723
|
| SMART Domains |
Protein: ENSMUSP00000107352
Gene: ENSMUSG00000040370
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Complex1_LYR
|
7 |
63 |
2.6e-15 |
PFAM |
|
Pfam:Complex1_LYR_1
|
7 |
74 |
3.6e-14 |
PFAM |
|
Pfam:Complex1_LYR_2
|
9 |
85 |
8.2e-9 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000111724
|
| SMART Domains |
Protein: ENSMUSP00000107353
Gene: ENSMUSG00000040370
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Complex1_LYR
|
7 |
63 |
2.6e-15 |
PFAM |
|
Pfam:Complex1_LYR_1
|
7 |
74 |
3.6e-14 |
PFAM |
|
Pfam:Complex1_LYR_2
|
9 |
85 |
8.2e-9 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000111725
|
| SMART Domains |
Protein: ENSMUSP00000107354
Gene: ENSMUSG00000040370
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Complex1_LYR
|
7 |
63 |
2.6e-15 |
PFAM |
|
Pfam:Complex1_LYR_1
|
7 |
74 |
3.6e-14 |
PFAM |
|
Pfam:Complex1_LYR_2
|
9 |
85 |
8.2e-9 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000111726
|
| SMART Domains |
Protein: ENSMUSP00000107355
Gene: ENSMUSG00000040370
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Complex1_LYR
|
7 |
63 |
2.6e-15 |
PFAM |
|
Pfam:Complex1_LYR_1
|
7 |
74 |
3.6e-14 |
PFAM |
|
Pfam:Complex1_LYR_2
|
9 |
85 |
8.2e-9 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000156486
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000203147
|
| SMART Domains |
Protein: ENSMUSP00000145294
Gene: ENSMUSG00000030265
| Domain | Start | End | E-Value | Type |
|---|
|
small_GTPase
|
1 |
53 |
3.1e-8 |
SMART |
|
| Coding Region Coverage |
- 1x: 99.8%
- 3x: 99.6%
- 10x: 98.5%
- 20x: 93.6%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene, a Kirsten ras oncogene homolog from the mammalian ras gene family, encodes a protein that is a member of the small GTPase superfamily. A single amino acid substitution is responsible for an activating mutation. The transforming protein that results is implicated in various malignancies, including lung adenocarcinoma, mucinous adenoma, ductal carcinoma of the pancreas and colorectal carcinoma. Alternative splicing leads to variants encoding two isoforms that differ in the C-terminal region. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a null allele exhibit embryonic lethality, decreased fetal growth, pericardial edema, anemia, and liver hypoplasia. Mice heterozygous for various knock-in alleles exhibit increased tumorigenesis. [provided by MGI curators]
|
| Allele List at MGI |
All alleles(26) : Targeted, knock-out(3) Targeted, other(7) Gene trapped(14) Other(2) |
| Other mutations in this stock |
Total: 46 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ahnak |
T |
C |
19: 8,982,043 (GRCm39) |
I1109T |
possibly damaging |
Het |
| Aipl1 |
C |
A |
11: 71,927,584 (GRCm39) |
D44Y |
probably benign |
Het |
| Aldh8a1 |
C |
T |
10: 21,271,465 (GRCm39) |
T397M |
probably damaging |
Het |
| Btbd16 |
T |
C |
7: 130,398,825 (GRCm39) |
S278P |
probably damaging |
Het |
| Ccdc110 |
G |
A |
8: 46,395,830 (GRCm39) |
E574K |
probably damaging |
Het |
| Cd19 |
T |
A |
7: 126,013,478 (GRCm39) |
K104* |
probably null |
Het |
| Cenpe |
A |
G |
3: 134,952,783 (GRCm39) |
E1491G |
probably benign |
Het |
| Col12a1 |
A |
T |
9: 79,537,831 (GRCm39) |
S2546T |
possibly damaging |
Het |
| Col18a1 |
T |
C |
10: 76,948,418 (GRCm39) |
T365A |
unknown |
Het |
| Ctif |
G |
T |
18: 75,653,176 (GRCm39) |
D360E |
probably benign |
Het |
| Fat4 |
G |
A |
3: 38,946,203 (GRCm39) |
E1699K |
probably damaging |
Het |
| Fbxo39 |
G |
A |
11: 72,208,526 (GRCm39) |
V293M |
probably damaging |
Het |
| Fcgbpl1 |
T |
C |
7: 27,852,766 (GRCm39) |
I1351T |
possibly damaging |
Het |
| Fhip1a |
A |
T |
3: 85,595,847 (GRCm39) |
I346N |
probably damaging |
Het |
| Havcr2 |
A |
G |
11: 46,366,722 (GRCm39) |
K221E |
possibly damaging |
Het |
| Hdac5 |
T |
C |
11: 102,097,294 (GRCm39) |
T209A |
probably benign |
Het |
| Herc1 |
A |
G |
9: 66,341,073 (GRCm39) |
Q1730R |
probably damaging |
Het |
| Ifi202b |
T |
C |
1: 173,804,923 (GRCm39) |
T10A |
probably benign |
Het |
| Il18rap |
T |
C |
1: 40,564,428 (GRCm39) |
S153P |
probably benign |
Het |
| Klk1b21 |
C |
T |
7: 43,753,787 (GRCm39) |
R24* |
probably null |
Het |
| Ldlrad4 |
A |
G |
18: 68,383,643 (GRCm39) |
E113G |
possibly damaging |
Het |
| Lhcgr |
AT |
ATT |
17: 89,049,677 (GRCm39) |
615 |
probably null |
Het |
| Macf1 |
T |
C |
4: 123,291,206 (GRCm39) |
E3895G |
possibly damaging |
Het |
| Mug1 |
T |
C |
6: 121,818,117 (GRCm39) |
S143P |
probably benign |
Het |
| Nudcd2 |
A |
T |
11: 40,624,529 (GRCm39) |
|
probably benign |
Het |
| Nup85 |
A |
G |
11: 115,468,759 (GRCm39) |
T201A |
probably benign |
Het |
| Odad2 |
A |
G |
18: 7,127,358 (GRCm39) |
F952L |
probably damaging |
Het |
| Plppr2 |
A |
G |
9: 21,852,105 (GRCm39) |
E64G |
probably damaging |
Het |
| Plvap |
A |
G |
8: 71,960,625 (GRCm39) |
S264P |
probably benign |
Het |
| Polm |
T |
C |
11: 5,787,906 (GRCm39) |
|
probably benign |
Het |
| Polr2d |
T |
A |
18: 31,928,365 (GRCm39) |
H93Q |
probably damaging |
Het |
| Ptprt |
T |
C |
2: 162,120,005 (GRCm39) |
E154G |
probably damaging |
Het |
| Rasal2 |
C |
A |
1: 157,071,154 (GRCm39) |
G67C |
probably damaging |
Het |
| Sdk2 |
A |
G |
11: 113,763,683 (GRCm39) |
V329A |
possibly damaging |
Het |
| Sorl1 |
A |
G |
9: 41,979,229 (GRCm39) |
V423A |
probably damaging |
Het |
| Spef2 |
A |
G |
15: 9,601,598 (GRCm39) |
S1555P |
unknown |
Het |
| Srgap3 |
A |
C |
6: 112,793,628 (GRCm39) |
L116R |
probably damaging |
Het |
| St6galnac3 |
C |
T |
3: 153,117,217 (GRCm39) |
V169M |
probably damaging |
Het |
| Stx16 |
T |
A |
2: 173,935,284 (GRCm39) |
M206K |
possibly damaging |
Het |
| Txnip |
A |
G |
3: 96,466,929 (GRCm39) |
D201G |
possibly damaging |
Het |
| Ubr4 |
T |
C |
4: 139,130,112 (GRCm39) |
V718A |
probably damaging |
Het |
| Vav3 |
A |
C |
3: 109,416,164 (GRCm39) |
D261A |
probably benign |
Het |
| Vcam1 |
A |
C |
3: 115,918,128 (GRCm39) |
L278V |
possibly damaging |
Het |
| Vta1 |
C |
A |
10: 14,543,697 (GRCm39) |
A226S |
probably damaging |
Het |
| Zfp217 |
G |
A |
2: 169,961,571 (GRCm39) |
S252F |
possibly damaging |
Het |
| Zfp777 |
G |
A |
6: 48,006,075 (GRCm39) |
Q440* |
probably null |
Het |
|
| Other mutations in Kras |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00808:Kras
|
APN |
6 |
145,192,474 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02929:Kras
|
APN |
6 |
145,177,815 (GRCm39) |
intron |
probably benign |
|
|
N/A - 293:Kras
|
UTSW |
6 |
145,177,940 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1463:Kras
|
UTSW |
6 |
145,170,787 (GRCm39) |
intron |
probably benign |
|
|
R1518:Kras
|
UTSW |
6 |
145,177,977 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1603:Kras
|
UTSW |
6 |
145,170,871 (GRCm39) |
nonsense |
probably null |
|
|
R1885:Kras
|
UTSW |
6 |
145,177,843 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5089:Kras
|
UTSW |
6 |
145,170,869 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5133:Kras
|
UTSW |
6 |
145,177,879 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7710:Kras
|
UTSW |
6 |
145,166,354 (GRCm39) |
missense |
probably benign |
|
|
R7876:Kras
|
UTSW |
6 |
145,170,848 (GRCm39) |
missense |
probably benign |
|
|
R8944:Kras
|
UTSW |
6 |
145,170,853 (GRCm39) |
missense |
probably benign |
|
|
R8951:Kras
|
UTSW |
6 |
145,166,338 (GRCm39) |
missense |
probably benign |
|
|
R9345:Kras
|
UTSW |
6 |
145,192,442 (GRCm39) |
missense |
probably benign |
0.00 |
|
Z1177:Kras
|
UTSW |
6 |
145,192,498 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- GTCCAAAACCCAGGGAATACTG -3'
(R):5'- AAGCGTCCATTAACAGTGAAAGTC -3'
Sequencing Primer
(F):5'- CTGACAGTTTGCACGAA -3'
(R):5'- CAGTGAAAGTCTGTCATCTGAGC -3'
|
| Posted On |
2020-06-30 |
Incidental Mutation