Incidental Mutation 'IGL02007:Calcrl'
| ID |
182250 |
| 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 # |
IGL02007
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
2 |
| Chromosomal Location |
84160970-84255755 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 84205668 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Cysteine to Arginine
at position 8
(C8R)
|
| 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: C8R
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000073875
Gene: ENSMUSG00000059588
AA Change: C8R
| 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: C8R
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000097527
Gene: ENSMUSG00000059588
AA Change: C8R
| 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: 28 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam28 |
C |
A |
14: 68,870,668 (GRCm39) |
R335L |
possibly damaging |
Het |
| Adgrv1 |
T |
C |
13: 81,716,862 (GRCm39) |
|
probably benign |
Het |
| Cntn4 |
T |
A |
6: 106,632,490 (GRCm39) |
S505T |
probably benign |
Het |
| Cyp3a16 |
T |
C |
5: 145,378,758 (GRCm39) |
|
probably benign |
Het |
| Dync2i2 |
A |
G |
2: 29,928,402 (GRCm39) |
S75P |
probably benign |
Het |
| Fhip1a |
G |
T |
3: 85,629,752 (GRCm39) |
P280T |
probably damaging |
Het |
| Gpatch11 |
A |
G |
17: 79,149,593 (GRCm39) |
T198A |
probably benign |
Het |
| H2-T15 |
G |
T |
17: 36,367,222 (GRCm39) |
N333K |
possibly damaging |
Het |
| Heatr5a |
C |
A |
12: 51,962,941 (GRCm39) |
L986F |
probably damaging |
Het |
| Ift172 |
A |
G |
5: 31,443,948 (GRCm39) |
I90T |
probably benign |
Het |
| Igkv3-9 |
A |
G |
6: 70,565,445 (GRCm39) |
|
probably benign |
Het |
| Iqsec1 |
G |
A |
6: 90,667,331 (GRCm39) |
P369S |
probably benign |
Het |
| Myh1 |
C |
A |
11: 67,111,382 (GRCm39) |
T1607K |
probably benign |
Het |
| Myo18b |
T |
C |
5: 113,022,838 (GRCm39) |
|
probably benign |
Het |
| Nobox |
A |
G |
6: 43,284,472 (GRCm39) |
L58P |
probably damaging |
Het |
| Nwd2 |
T |
A |
5: 63,962,042 (GRCm39) |
I542N |
possibly damaging |
Het |
| Or4k51 |
A |
G |
2: 111,584,824 (GRCm39) |
T77A |
probably damaging |
Het |
| Or5p54 |
A |
G |
7: 107,553,953 (GRCm39) |
Y35C |
probably damaging |
Het |
| Osm |
C |
T |
11: 4,189,470 (GRCm39) |
R85W |
probably damaging |
Het |
| Pcdh20 |
T |
C |
14: 88,707,031 (GRCm39) |
R90G |
probably benign |
Het |
| Pkhd1l1 |
T |
C |
15: 44,397,129 (GRCm39) |
|
probably benign |
Het |
| Sec14l2 |
A |
G |
11: 4,061,114 (GRCm39) |
S116P |
probably benign |
Het |
| Selenbp2 |
A |
C |
3: 94,605,461 (GRCm39) |
N96H |
possibly damaging |
Het |
| Smarcal1 |
T |
C |
1: 72,635,099 (GRCm39) |
S393P |
probably damaging |
Het |
| Tbc1d1 |
A |
G |
5: 64,414,335 (GRCm39) |
Q103R |
probably damaging |
Het |
| Tmem63c |
T |
C |
12: 87,119,647 (GRCm39) |
Y314H |
probably damaging |
Het |
| Zfp663 |
A |
C |
2: 165,200,993 (GRCm39) |
S14A |
probably benign |
Het |
| Zmynd10 |
A |
G |
9: 107,427,731 (GRCm39) |
N345S |
probably damaging |
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 |
|
IGL01773:Calcrl
|
APN |
2 |
84,200,787 (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 |
2014-05-07 |
Incidental Mutation