Incidental Mutation 'IGL01773:Calcrl'
| ID |
153717 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Calcrl
|
| Ensembl Gene |
ENSMUSG00000059588 |
| Gene Name |
calcitonin receptor-like |
| Synonyms |
CRLR |
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
IGL01773
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
2 |
| Chromosomal Location |
84160970-84255755 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 84200787 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Histidine
at position 86
(Y86H)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000097527
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000074262]
[ENSMUST00000099944]
|
| AlphaFold |
Q9R1W5 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000074262
AA Change: Y86H
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000073875
Gene: ENSMUSG00000059588
AA Change: Y86H
| Domain | Start | End | E-Value | Type |
|---|
|
HormR
|
60 |
135 |
1.4e-26 |
SMART |
|
Pfam:7tm_2
|
137 |
379 |
5.7e-80 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000099944
AA Change: Y86H
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000097527
Gene: ENSMUSG00000059588
AA Change: Y86H
| Domain | Start | End | E-Value | Type |
|---|
|
HormR
|
60 |
135 |
1.4e-26 |
SMART |
|
Pfam:7tm_2
|
137 |
379 |
3.2e-80 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000151295
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
PHENOTYPE: Homozygous mutation of this gene results in lethality between E13.5-E14.5, hydrops fetalis and cardiovascular defects such as thin vascular smooth muscle walls and small, disorganized hearts resulting from a decrease in cell proliferation and an increasein apoptosis. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 30 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Cacna1s |
C |
A |
1: 136,046,491 (GRCm39) |
H1775Q |
probably benign |
Het |
| Ccdc63 |
T |
C |
5: 122,251,208 (GRCm39) |
K401E |
possibly damaging |
Het |
| Col9a1 |
A |
G |
1: 24,244,147 (GRCm39) |
T127A |
probably benign |
Het |
| Cpq |
T |
A |
15: 33,212,996 (GRCm39) |
F5Y |
probably benign |
Het |
| Cuzd1 |
T |
A |
7: 130,916,614 (GRCm39) |
M282L |
probably damaging |
Het |
| Ddx10 |
C |
A |
9: 53,115,430 (GRCm39) |
D635Y |
possibly damaging |
Het |
| Ect2l |
T |
C |
10: 18,037,252 (GRCm39) |
D382G |
probably damaging |
Het |
| Ganc |
T |
C |
2: 120,290,365 (GRCm39) |
S901P |
possibly damaging |
Het |
| Gpr179 |
G |
A |
11: 97,232,192 (GRCm39) |
R671C |
probably benign |
Het |
| Isl2 |
T |
C |
9: 55,451,504 (GRCm39) |
L219P |
probably damaging |
Het |
| Mfsd13a |
T |
C |
19: 46,357,733 (GRCm39) |
S296P |
possibly damaging |
Het |
| Mtmr7 |
A |
T |
8: 41,034,461 (GRCm39) |
L287Q |
probably damaging |
Het |
| Or11g25 |
T |
C |
14: 50,723,230 (GRCm39) |
F105S |
probably damaging |
Het |
| Or52d13 |
T |
G |
7: 103,110,221 (GRCm39) |
M60L |
possibly damaging |
Het |
| Or7a39 |
A |
G |
10: 78,715,770 (GRCm39) |
T255A |
possibly damaging |
Het |
| Or8g28 |
A |
G |
9: 39,169,830 (GRCm39) |
I46T |
probably damaging |
Het |
| Pik3c3 |
T |
A |
18: 30,410,155 (GRCm39) |
F130I |
probably damaging |
Het |
| Rab3gap1 |
T |
A |
1: 127,845,958 (GRCm39) |
S277R |
possibly damaging |
Het |
| Rassf9 |
A |
G |
10: 102,381,494 (GRCm39) |
K290R |
probably benign |
Het |
| Rnaseh2a |
A |
T |
8: 85,691,767 (GRCm39) |
V136D |
probably damaging |
Het |
| Rnf39 |
C |
T |
17: 37,256,328 (GRCm39) |
S140L |
possibly damaging |
Het |
| Sbno2 |
A |
G |
10: 79,893,665 (GRCm39) |
V1212A |
probably damaging |
Het |
| Slc4a10 |
A |
T |
2: 62,021,101 (GRCm39) |
I50F |
probably damaging |
Het |
| Slfn5 |
A |
T |
11: 82,852,157 (GRCm39) |
E761V |
probably damaging |
Het |
| Sptlc1 |
A |
G |
13: 53,531,334 (GRCm39) |
Y18H |
probably damaging |
Het |
| Tfam |
A |
G |
10: 71,072,805 (GRCm39) |
M9T |
possibly damaging |
Het |
| Tmem186 |
A |
G |
16: 8,453,841 (GRCm39) |
L140P |
probably damaging |
Het |
| Try4 |
A |
T |
6: 41,281,960 (GRCm39) |
N182I |
probably damaging |
Het |
| Vmn1r209 |
C |
T |
13: 22,990,450 (GRCm39) |
C80Y |
probably damaging |
Het |
| Vmn2r104 |
A |
T |
17: 20,260,930 (GRCm39) |
S498T |
probably benign |
Het |
|
| Other mutations in Calcrl |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00983:Calcrl
|
APN |
2 |
84,200,798 (GRCm39) |
missense |
probably benign |
0.05 |
|
IGL01395:Calcrl
|
APN |
2 |
84,198,919 (GRCm39) |
missense |
probably benign |
0.25 |
|
IGL01672:Calcrl
|
APN |
2 |
84,175,414 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01738:Calcrl
|
APN |
2 |
84,200,793 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02007:Calcrl
|
APN |
2 |
84,205,668 (GRCm39) |
missense |
probably benign |
|
|
IGL02254:Calcrl
|
APN |
2 |
84,178,552 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02887:Calcrl
|
APN |
2 |
84,169,586 (GRCm39) |
missense |
probably benign |
0.04 |
|
R0008:Calcrl
|
UTSW |
2 |
84,203,618 (GRCm39) |
missense |
probably benign |
0.04 |
|
R0008:Calcrl
|
UTSW |
2 |
84,203,618 (GRCm39) |
missense |
probably benign |
0.04 |
|
R0485:Calcrl
|
UTSW |
2 |
84,200,435 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1579:Calcrl
|
UTSW |
2 |
84,163,881 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1640:Calcrl
|
UTSW |
2 |
84,164,021 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R1694:Calcrl
|
UTSW |
2 |
84,169,631 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1731:Calcrl
|
UTSW |
2 |
84,175,512 (GRCm39) |
critical splice donor site |
probably null |
|
|
R1779:Calcrl
|
UTSW |
2 |
84,181,629 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1992:Calcrl
|
UTSW |
2 |
84,200,855 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R2262:Calcrl
|
UTSW |
2 |
84,175,517 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2763:Calcrl
|
UTSW |
2 |
84,200,847 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R3903:Calcrl
|
UTSW |
2 |
84,198,986 (GRCm39) |
splice site |
probably benign |
|
|
R4838:Calcrl
|
UTSW |
2 |
84,181,549 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4901:Calcrl
|
UTSW |
2 |
84,163,857 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4997:Calcrl
|
UTSW |
2 |
84,181,592 (GRCm39) |
nonsense |
probably null |
|
|
R4998:Calcrl
|
UTSW |
2 |
84,169,658 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5791:Calcrl
|
UTSW |
2 |
84,181,609 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5887:Calcrl
|
UTSW |
2 |
84,200,841 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6046:Calcrl
|
UTSW |
2 |
84,205,658 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6207:Calcrl
|
UTSW |
2 |
84,163,874 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6959:Calcrl
|
UTSW |
2 |
84,200,428 (GRCm39) |
missense |
possibly damaging |
0.76 |
|
R6972:Calcrl
|
UTSW |
2 |
84,198,922 (GRCm39) |
missense |
probably benign |
|
|
R7522:Calcrl
|
UTSW |
2 |
84,203,708 (GRCm39) |
missense |
probably benign |
|
|
R7653:Calcrl
|
UTSW |
2 |
84,175,529 (GRCm39) |
nonsense |
probably null |
|
|
R7911:Calcrl
|
UTSW |
2 |
84,181,575 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8082:Calcrl
|
UTSW |
2 |
84,200,786 (GRCm39) |
missense |
possibly damaging |
0.56 |
|
R8110:Calcrl
|
UTSW |
2 |
84,169,683 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8152:Calcrl
|
UTSW |
2 |
84,169,593 (GRCm39) |
missense |
possibly damaging |
0.63 |
|
R8753:Calcrl
|
UTSW |
2 |
84,178,661 (GRCm39) |
missense |
probably benign |
0.02 |
|
R8753:Calcrl
|
UTSW |
2 |
84,178,659 (GRCm39) |
missense |
probably benign |
0.11 |
|
R8903:Calcrl
|
UTSW |
2 |
84,203,729 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R9265:Calcrl
|
UTSW |
2 |
84,200,400 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R9276:Calcrl
|
UTSW |
2 |
84,205,643 (GRCm39) |
missense |
probably benign |
|
|
R9773:Calcrl
|
UTSW |
2 |
84,200,462 (GRCm39) |
missense |
probably benign |
0.00 |
|
| Posted On |
2014-02-04 |
Incidental Mutation