Incidental Mutation 'IGL00983:Calcrl'
| ID |
27033 |
| 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 # |
IGL00983
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
2 |
| Chromosomal Location |
84160970-84255755 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 84200798 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 82
(E82G)
|
| 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: E82G
PolyPhen 2
Score 0.046 (Sensitivity: 0.94; Specificity: 0.83)
|
| SMART Domains |
Protein: ENSMUSP00000073875
Gene: ENSMUSG00000059588
AA Change: E82G
| 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: E82G
PolyPhen 2
Score 0.046 (Sensitivity: 0.94; Specificity: 0.83)
|
| SMART Domains |
Protein: ENSMUSP00000097527
Gene: ENSMUSG00000059588
AA Change: E82G
| 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: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2810021J22Rik |
C |
T |
11: 58,771,438 (GRCm39) |
Q307* |
probably null |
Het |
| Acss3 |
A |
T |
10: 106,802,825 (GRCm39) |
C473* |
probably null |
Het |
| Adgrg1 |
T |
A |
8: 95,731,871 (GRCm39) |
S178T |
probably damaging |
Het |
| Anxa7 |
C |
A |
14: 20,508,749 (GRCm39) |
L386F |
possibly damaging |
Het |
| Ccr9 |
C |
T |
9: 123,608,351 (GRCm39) |
P11L |
probably benign |
Het |
| Cep164 |
C |
A |
9: 45,686,554 (GRCm39) |
V887L |
possibly damaging |
Het |
| Dctn6 |
A |
G |
8: 34,559,747 (GRCm39) |
L136P |
probably damaging |
Het |
| Dnase1 |
T |
C |
16: 3,857,417 (GRCm39) |
V238A |
possibly damaging |
Het |
| Fat1 |
A |
G |
8: 45,486,427 (GRCm39) |
Y3304C |
probably damaging |
Het |
| Fbxo31 |
A |
T |
8: 122,281,069 (GRCm39) |
V359D |
possibly damaging |
Het |
| Gpr182 |
A |
G |
10: 127,586,657 (GRCm39) |
I98T |
possibly damaging |
Het |
| Gspt1 |
C |
T |
16: 11,048,861 (GRCm39) |
|
probably benign |
Het |
| Itgam |
C |
A |
7: 127,667,839 (GRCm39) |
T70K |
probably damaging |
Het |
| Itpr2 |
A |
G |
6: 146,212,479 (GRCm39) |
|
probably benign |
Het |
| Kank3 |
T |
A |
17: 34,040,791 (GRCm39) |
M458K |
probably damaging |
Het |
| Kcnd2 |
A |
G |
6: 21,714,153 (GRCm39) |
K379E |
possibly damaging |
Het |
| Macf1 |
C |
T |
4: 123,275,915 (GRCm39) |
V4206I |
probably damaging |
Het |
| Mdn1 |
T |
C |
4: 32,735,525 (GRCm39) |
L3397S |
probably damaging |
Het |
| Msh3 |
A |
T |
13: 92,436,785 (GRCm39) |
N508K |
probably damaging |
Het |
| Mttp |
C |
A |
3: 137,820,890 (GRCm39) |
|
probably benign |
Het |
| Nme5 |
G |
T |
18: 34,700,181 (GRCm39) |
Q155K |
probably benign |
Het |
| Or13p3 |
A |
T |
4: 118,567,119 (GRCm39) |
N172Y |
probably damaging |
Het |
| Or2r11 |
A |
T |
6: 42,437,029 (GRCm39) |
I308N |
probably benign |
Het |
| Or52b4i |
T |
A |
7: 102,191,593 (GRCm39) |
I150N |
possibly damaging |
Het |
| Pfkp |
A |
T |
13: 6,631,603 (GRCm39) |
W151R |
probably damaging |
Het |
| Pkd1l1 |
T |
A |
11: 8,794,585 (GRCm39) |
T1859S |
probably benign |
Het |
| Pmvk |
T |
C |
3: 89,374,890 (GRCm39) |
W96R |
probably damaging |
Het |
| Prdx6b |
T |
A |
2: 80,123,539 (GRCm39) |
M116K |
probably damaging |
Het |
| Ptpro |
A |
C |
6: 137,395,246 (GRCm39) |
L876F |
probably benign |
Het |
| Sdcbp |
G |
T |
4: 6,392,953 (GRCm39) |
E197* |
probably null |
Het |
| Serpinb1c |
A |
T |
13: 33,068,207 (GRCm39) |
S188R |
possibly damaging |
Het |
| Sorcs1 |
A |
T |
19: 50,164,566 (GRCm39) |
D988E |
probably damaging |
Het |
| Tmbim1 |
C |
A |
1: 74,334,422 (GRCm39) |
G46V |
probably damaging |
Het |
| Ubl4b |
C |
T |
3: 107,461,756 (GRCm39) |
G168E |
unknown |
Het |
| Vmn2r91 |
T |
C |
17: 18,325,820 (GRCm39) |
F146S |
probably benign |
Het |
| Zdhhc20 |
T |
C |
14: 58,076,613 (GRCm39) |
N335D |
possibly damaging |
Het |
| Zzz3 |
T |
G |
3: 152,161,447 (GRCm39) |
|
probably benign |
Het |
|
| Other mutations in Calcrl |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
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 |
|
|
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 |
2013-04-17 |
Incidental Mutation