Incidental Mutation 'R1319:Ang2'
| ID |
157643 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ang2
|
| Ensembl Gene |
ENSMUSG00000047894 |
| Gene Name |
angiogenin, ribonuclease A family, member 2 |
| Synonyms |
Rnase5b, Angrp |
| MMRRC Submission |
039385-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.061)
|
| Stock # |
R1319 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
14 |
| Chromosomal Location |
51432781-51436400 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 51433164 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 73
(T73A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000154100
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000051274]
[ENSMUST00000228835]
|
| AlphaFold |
Q64438 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000051274
AA Change: T73A
PolyPhen 2
Score 0.024 (Sensitivity: 0.95; Specificity: 0.81)
|
| SMART Domains |
Protein: ENSMUSP00000062902
Gene: ENSMUSG00000047894
AA Change: T73A
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
5 |
18 |
N/A |
INTRINSIC |
|
RNAse_Pc
|
26 |
142 |
3.11e-62 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000228835
AA Change: T73A
PolyPhen 2
Score 0.024 (Sensitivity: 0.95; Specificity: 0.81)
|
| Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.1%
- 10x: 95.5%
- 20x: 90.3%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 26 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam28 |
T |
C |
14: 68,846,578 (GRCm39) |
E745G |
probably benign |
Het |
| Adamts12 |
G |
T |
15: 11,286,877 (GRCm39) |
K827N |
probably benign |
Het |
| Bbs10 |
T |
C |
10: 111,134,735 (GRCm39) |
L51P |
probably damaging |
Het |
| Bean1 |
T |
C |
8: 104,943,856 (GRCm39) |
I137T |
probably benign |
Het |
| Cimip1 |
A |
T |
2: 173,369,716 (GRCm39) |
S77C |
probably damaging |
Het |
| Cttnbp2 |
T |
C |
6: 18,434,629 (GRCm39) |
T410A |
probably benign |
Het |
| Cyp4a10 |
A |
C |
4: 115,378,342 (GRCm39) |
I143L |
probably damaging |
Het |
| Dlg2 |
A |
T |
7: 92,087,231 (GRCm39) |
Q788L |
probably damaging |
Het |
| Epha10 |
G |
A |
4: 124,775,707 (GRCm39) |
V14I |
probably benign |
Het |
| Eprs1 |
G |
A |
1: 185,117,159 (GRCm39) |
D401N |
probably damaging |
Het |
| Fam169a |
T |
C |
13: 97,234,070 (GRCm39) |
V114A |
probably damaging |
Het |
| Fbn2 |
G |
A |
18: 58,333,682 (GRCm39) |
P178S |
possibly damaging |
Het |
| Fcrl2 |
A |
C |
3: 87,169,484 (GRCm39) |
|
probably null |
Het |
| Grm1 |
G |
T |
10: 10,565,142 (GRCm39) |
H1055Q |
probably benign |
Het |
| Mcm6 |
T |
C |
1: 128,276,789 (GRCm39) |
N267S |
probably benign |
Het |
| Or5an1c |
T |
C |
19: 12,218,866 (GRCm39) |
D53G |
probably damaging |
Het |
| Phc3 |
T |
C |
3: 30,984,018 (GRCm39) |
I699V |
probably damaging |
Het |
| Prl2c2 |
G |
C |
13: 13,176,786 (GRCm39) |
T47R |
probably damaging |
Het |
| Pyroxd1 |
T |
C |
6: 142,304,874 (GRCm39) |
V367A |
probably benign |
Het |
| R3hdm1 |
G |
A |
1: 128,159,142 (GRCm39) |
R939H |
probably benign |
Het |
| Rag1 |
A |
T |
2: 101,473,537 (GRCm39) |
I535N |
probably damaging |
Het |
| Rhot1 |
T |
C |
11: 80,136,847 (GRCm39) |
C310R |
probably damaging |
Het |
| Tnrc6a |
G |
A |
7: 122,783,474 (GRCm39) |
V1481M |
probably benign |
Het |
| Vmn1r234 |
A |
T |
17: 21,449,172 (GRCm39) |
M29L |
probably benign |
Het |
| Vmn2r68 |
A |
G |
7: 84,881,700 (GRCm39) |
I460T |
probably damaging |
Het |
| Zfhx3 |
T |
A |
8: 109,660,465 (GRCm39) |
Y1240N |
probably damaging |
Het |
|
| Other mutations in Ang2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
R0276:Ang2
|
UTSW |
14 |
51,432,975 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R1548:Ang2
|
UTSW |
14 |
51,432,990 (GRCm39) |
nonsense |
probably null |
|
|
R3736:Ang2
|
UTSW |
14 |
51,433,113 (GRCm39) |
nonsense |
probably null |
|
|
R4329:Ang2
|
UTSW |
14 |
51,433,325 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
R4754:Ang2
|
UTSW |
14 |
51,432,974 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5457:Ang2
|
UTSW |
14 |
51,433,292 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7718:Ang2
|
UTSW |
14 |
51,433,217 (GRCm39) |
missense |
probably benign |
|
|
R8317:Ang2
|
UTSW |
14 |
51,433,349 (GRCm39) |
missense |
probably benign |
0.34 |
|
R8325:Ang2
|
UTSW |
14 |
51,432,960 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8725:Ang2
|
UTSW |
14 |
51,432,996 (GRCm39) |
missense |
probably benign |
0.40 |
|
R8727:Ang2
|
UTSW |
14 |
51,432,996 (GRCm39) |
missense |
probably benign |
0.40 |
|
R9487:Ang2
|
UTSW |
14 |
51,433,071 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9697:Ang2
|
UTSW |
14 |
51,433,326 (GRCm39) |
missense |
probably benign |
0.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- AAAGTGGACAGGCCAGCCATTCTC -3'
(R):5'- CCTTGGCAGGAATCTCTGTTGGAAG -3'
Sequencing Primer
(F):5'- GCCAGCCATTCTCACAGC -3'
(R):5'- GATGAGCCCAGGTCCTTTG -3'
|
| Posted On |
2014-02-18 |
Incidental Mutation