Incidental Mutation 'R4120:Mas1'
| ID |
315300 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Mas1
|
| Ensembl Gene |
ENSMUSG00000068037 |
| Gene Name |
MAS1 oncogene |
| Synonyms |
Mas receptor, Mas-1, MasR |
| MMRRC Submission |
040993-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R4120 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
17 |
| Chromosomal Location |
13059966-13087030 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 13061233 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Lysine
at position 63
(N63K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000124879
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000089015]
[ENSMUST00000159223]
[ENSMUST00000159865]
[ENSMUST00000161747]
[ENSMUST00000162119]
[ENSMUST00000162333]
[ENSMUST00000162389]
[ENSMUST00000165020]
[ENSMUST00000167152]
|
| AlphaFold |
P30554 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000089015
AA Change: N63K
PolyPhen 2
Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000086409
Gene: ENSMUSG00000068037
AA Change: N63K
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7TM_GPCR_Srx
|
39 |
227 |
3.6e-7 |
PFAM |
|
Pfam:7tm_1
|
48 |
279 |
3.1e-23 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000159223
AA Change: N63K
PolyPhen 2
Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000124295
Gene: ENSMUSG00000068037
AA Change: N63K
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
36 |
58 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000159865
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000160932
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000161747
AA Change: N63K
PolyPhen 2
Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000123902
Gene: ENSMUSG00000068037
AA Change: N63K
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7TM_GPCR_Srx
|
39 |
227 |
3.6e-7 |
PFAM |
|
Pfam:7tm_1
|
48 |
279 |
3.1e-23 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000162119
AA Change: N63K
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000124952
Gene: ENSMUSG00000068037
AA Change: N63K
| Domain | Start | End | E-Value | Type |
|---|
|
SCOP:d1l9ha_
|
31 |
92 |
1e-5 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000162333
AA Change: N63K
PolyPhen 2
Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000125108
Gene: ENSMUSG00000068037
AA Change: N63K
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7TM_GPCR_Srx
|
39 |
226 |
2.6e-7 |
PFAM |
|
Pfam:7tm_1
|
48 |
279 |
5.7e-16 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000162389
AA Change: N63K
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000124879
Gene: ENSMUSG00000068037
AA Change: N63K
| Domain | Start | End | E-Value | Type |
|---|
|
SCOP:d1l9ha_
|
31 |
76 |
1e-4 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000165020
AA Change: N63K
PolyPhen 2
Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000132300
Gene: ENSMUSG00000068037
AA Change: N63K
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7TM_GPCR_Srx
|
39 |
227 |
3.6e-7 |
PFAM |
|
Pfam:7tm_1
|
48 |
279 |
3.1e-23 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000167152
AA Change: N63K
PolyPhen 2
Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000131341
Gene: ENSMUSG00000068037
AA Change: N63K
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7TM_GPCR_Srx
|
39 |
227 |
3.6e-7 |
PFAM |
|
Pfam:7tm_1
|
48 |
279 |
3.1e-23 |
PFAM |
|
| Meta Mutation Damage Score |
0.4166 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 95.0%
|
| Validation Efficiency |
93% (55/59) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a class I seven-transmembrane G-protein-coupled receptor. The encoded protein is a receptor for angiotensin-(1-7) and preferentially couples to the Gq protein, activating the phospholipase C signaling pathway. The encoded protein may play a role in multiple processes including hypotension, smooth muscle relaxation and cardioprotection by mediating the effects of angiotensin-(1-7). [provided by RefSeq, May 2012]
PHENOTYPE: Mice homozygous for disruptions in this gene show enhanced long term potentiation and higher levels of anxiety. They are otherwise normal and fertile. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 53 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgrb3 |
C |
A |
1: 25,133,388 (GRCm39) |
E1233* |
probably null |
Het |
| Afap1l1 |
T |
C |
18: 61,872,243 (GRCm39) |
D526G |
probably damaging |
Het |
| Ago4 |
A |
G |
4: 126,390,600 (GRCm39) |
Y807H |
probably damaging |
Het |
| Ankfy1 |
G |
A |
11: 72,605,310 (GRCm39) |
|
probably null |
Het |
| Arhgap40 |
A |
G |
2: 158,374,250 (GRCm39) |
M222V |
probably benign |
Het |
| Asnsd1 |
A |
G |
1: 53,387,154 (GRCm39) |
S158P |
probably damaging |
Het |
| Cdh15 |
T |
C |
8: 123,590,162 (GRCm39) |
V365A |
probably damaging |
Het |
| Clca3a2 |
T |
C |
3: 144,516,613 (GRCm39) |
M328V |
probably benign |
Het |
| Col4a1 |
G |
A |
8: 11,256,263 (GRCm39) |
P1535S |
unknown |
Het |
| Dennd2a |
G |
A |
6: 39,442,030 (GRCm39) |
R947C |
probably damaging |
Het |
| Dlg2 |
G |
A |
7: 91,614,846 (GRCm39) |
V217I |
probably damaging |
Het |
| Dnaaf2 |
T |
C |
12: 69,244,812 (GRCm39) |
D83G |
possibly damaging |
Het |
| Dppa5a |
A |
T |
9: 78,275,137 (GRCm39) |
M55K |
possibly damaging |
Het |
| Ect2l |
A |
G |
10: 18,006,466 (GRCm39) |
V779A |
probably benign |
Het |
| Ehhadh |
A |
G |
16: 21,581,934 (GRCm39) |
S353P |
probably benign |
Het |
| Etv3 |
A |
G |
3: 87,443,589 (GRCm39) |
D391G |
probably benign |
Het |
| Fastkd1 |
T |
A |
2: 69,537,654 (GRCm39) |
K309N |
probably damaging |
Het |
| Fip1l1 |
T |
A |
5: 74,748,852 (GRCm39) |
Y375N |
probably damaging |
Het |
| Flvcr2 |
T |
C |
12: 85,832,903 (GRCm39) |
S308P |
probably benign |
Het |
| Fyco1 |
T |
C |
9: 123,654,691 (GRCm39) |
Y1065C |
probably benign |
Het |
| Gfra2 |
A |
G |
14: 71,203,715 (GRCm39) |
D31G |
probably damaging |
Het |
| Gm17175 |
A |
T |
14: 51,810,534 (GRCm39) |
I31N |
probably damaging |
Het |
| Gm6003 |
T |
A |
7: 32,864,976 (GRCm39) |
|
noncoding transcript |
Het |
| Gm9951 |
T |
C |
8: 34,522,993 (GRCm39) |
|
noncoding transcript |
Het |
| Hspa2 |
A |
G |
12: 76,452,008 (GRCm39) |
E234G |
probably damaging |
Het |
| Ip6k2 |
G |
A |
9: 108,682,847 (GRCm39) |
R319Q |
probably benign |
Het |
| Iqsec1 |
A |
T |
6: 90,639,584 (GRCm39) |
Y1065* |
probably null |
Het |
| Ltk |
T |
A |
2: 119,588,429 (GRCm39) |
|
probably benign |
Het |
| Map2 |
G |
A |
1: 66,455,063 (GRCm39) |
A1318T |
probably damaging |
Het |
| Myo15b |
T |
C |
11: 115,764,318 (GRCm39) |
S1311P |
probably benign |
Het |
| Nav3 |
A |
G |
10: 109,739,605 (GRCm39) |
|
probably null |
Het |
| Nlrp1c-ps |
T |
C |
11: 71,133,359 (GRCm39) |
|
noncoding transcript |
Het |
| Oca2 |
A |
T |
7: 55,904,630 (GRCm39) |
D32V |
probably damaging |
Het |
| Or51v8 |
T |
C |
7: 103,320,221 (GRCm39) |
T6A |
probably benign |
Het |
| Or8b9 |
T |
C |
9: 37,766,705 (GRCm39) |
L197S |
possibly damaging |
Het |
| Otub2 |
T |
C |
12: 103,370,489 (GRCm39) |
V257A |
probably damaging |
Het |
| Pink1 |
G |
A |
4: 138,042,822 (GRCm39) |
R461* |
probably null |
Het |
| Plxna2 |
T |
C |
1: 194,462,935 (GRCm39) |
C901R |
probably damaging |
Het |
| Ptchd3 |
T |
A |
11: 121,721,572 (GRCm39) |
N148K |
probably damaging |
Het |
| Ralgapa1 |
C |
T |
12: 55,687,429 (GRCm39) |
R2019Q |
probably damaging |
Het |
| Ripor1 |
T |
A |
8: 106,345,489 (GRCm39) |
|
probably benign |
Het |
| Sec13 |
T |
C |
6: 113,711,637 (GRCm39) |
N107S |
probably damaging |
Het |
| Slc12a2 |
A |
G |
18: 58,032,427 (GRCm39) |
M376V |
possibly damaging |
Het |
| Sp140l2 |
C |
T |
1: 85,237,542 (GRCm39) |
V81M |
possibly damaging |
Het |
| Sptbn5 |
T |
A |
2: 119,895,010 (GRCm39) |
D798V |
possibly damaging |
Het |
| Stradb |
T |
A |
1: 59,019,168 (GRCm39) |
Y30N |
possibly damaging |
Het |
| Syne1 |
T |
A |
10: 5,359,798 (GRCm39) |
Q328L |
probably damaging |
Het |
| Ttc23l |
A |
C |
15: 10,540,006 (GRCm39) |
V159G |
probably damaging |
Het |
| Vmn2r100 |
T |
C |
17: 19,752,215 (GRCm39) |
S753P |
probably damaging |
Het |
| Vmn2r129 |
G |
T |
4: 156,686,778 (GRCm39) |
|
noncoding transcript |
Het |
| Vmn2r39 |
G |
A |
7: 9,026,673 (GRCm39) |
H443Y |
probably benign |
Het |
| Zfp936 |
A |
G |
7: 42,839,630 (GRCm39) |
T366A |
probably benign |
Het |
| Zkscan3 |
T |
C |
13: 21,578,119 (GRCm39) |
E256G |
possibly damaging |
Het |
|
| Other mutations in Mas1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00230:Mas1
|
APN |
17 |
13,060,877 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL00583:Mas1
|
APN |
17 |
13,060,852 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
IGL01805:Mas1
|
APN |
17 |
13,061,117 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03263:Mas1
|
APN |
17 |
13,060,451 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R0732:Mas1
|
UTSW |
17 |
13,060,634 (GRCm39) |
missense |
probably benign |
0.17 |
|
R1768:Mas1
|
UTSW |
17 |
13,060,586 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1872:Mas1
|
UTSW |
17 |
13,061,078 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1967:Mas1
|
UTSW |
17 |
13,060,923 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2032:Mas1
|
UTSW |
17 |
13,061,457 (GRCm39) |
splice site |
probably benign |
|
|
R3851:Mas1
|
UTSW |
17 |
13,060,880 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7113:Mas1
|
UTSW |
17 |
13,061,324 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7297:Mas1
|
UTSW |
17 |
13,060,745 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7332:Mas1
|
UTSW |
17 |
13,061,106 (GRCm39) |
missense |
probably benign |
0.17 |
|
R7787:Mas1
|
UTSW |
17 |
13,061,374 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R9072:Mas1
|
UTSW |
17 |
13,060,839 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
R9622:Mas1
|
UTSW |
17 |
13,060,898 (GRCm39) |
missense |
probably benign |
|
|
| Predicted Primers |
PCR Primer
(F):5'- CTGTACCATATGGGGTAGAGGAC -3'
(R):5'- TGACATCCCTTGCTGAAGAG -3'
Sequencing Primer
(F):5'- CTGTCAGCAGATAGAGGCC -3'
(R):5'- TCCCTTGCTGAAGAGAAAGC -3'
|
| Posted On |
2015-05-14 |
Incidental Mutation