Incidental Mutation 'R3903:Calcrl'
ID |
309255 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Calcrl
|
Ensembl Gene |
ENSMUSG00000059588 |
Gene Name |
calcitonin receptor-like |
Synonyms |
CRLR |
MMRRC Submission |
040907-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R3903 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
2 |
Chromosomal Location |
84160970-84255755 bp(-) (GRCm39) |
Type of Mutation |
splice site |
DNA Base Change (assembly) |
T to A
at 84198986 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000097527
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000074262]
[ENSMUST00000099944]
|
AlphaFold |
Q9R1W5 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000074262
|
SMART Domains |
Protein: ENSMUSP00000073875 Gene: ENSMUSG00000059588
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
|
SMART Domains |
Protein: ENSMUSP00000097527 Gene: ENSMUSG00000059588
Domain | Start | End | E-Value | Type |
HormR
|
60 |
135 |
1.4e-26 |
SMART |
Pfam:7tm_2
|
137 |
379 |
3.2e-80 |
PFAM |
|
Meta Mutation Damage Score |
0.0898 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.4%
- 20x: 95.5%
|
Validation Efficiency |
100% (32/32) |
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 |
Amd1 |
C |
T |
10: 40,166,453 (GRCm39) |
R210H |
probably benign |
Het |
Amt |
C |
T |
9: 108,174,420 (GRCm39) |
R62C |
possibly damaging |
Het |
Ap3m1 |
T |
C |
14: 21,086,732 (GRCm39) |
Y185C |
probably null |
Het |
Ccdc178 |
C |
T |
18: 22,156,152 (GRCm39) |
V573I |
possibly damaging |
Het |
Cdh6 |
T |
C |
15: 13,042,661 (GRCm39) |
K499R |
probably benign |
Het |
Col1a2 |
G |
A |
6: 4,518,822 (GRCm39) |
|
probably benign |
Het |
Col6a1 |
C |
T |
10: 76,547,175 (GRCm39) |
R730H |
unknown |
Het |
Cyp4f40 |
C |
A |
17: 32,878,598 (GRCm39) |
R47S |
possibly damaging |
Het |
Eif4a2 |
AG |
A |
16: 22,929,390 (GRCm39) |
|
probably null |
Het |
Fsip2l |
T |
C |
X: 47,930,421 (GRCm39) |
N649S |
possibly damaging |
Het |
Gm8180 |
T |
A |
14: 44,021,092 (GRCm39) |
R39W |
probably null |
Het |
Golm1 |
T |
C |
13: 59,786,154 (GRCm39) |
Q346R |
probably damaging |
Het |
Grap |
T |
G |
11: 61,551,151 (GRCm39) |
|
probably null |
Het |
Hormad2 |
A |
G |
11: 4,377,237 (GRCm39) |
|
probably benign |
Het |
Hyal1 |
T |
C |
9: 107,456,171 (GRCm39) |
|
probably null |
Het |
Kif12 |
A |
G |
4: 63,086,213 (GRCm39) |
V378A |
possibly damaging |
Het |
Lrrk2 |
G |
A |
15: 91,631,904 (GRCm39) |
S1276N |
probably damaging |
Het |
Lrrk2 |
A |
T |
15: 91,631,903 (GRCm39) |
S1276C |
probably damaging |
Het |
Obscn |
T |
C |
11: 59,022,472 (GRCm39) |
R758G |
possibly damaging |
Het |
Or4f53 |
A |
T |
2: 111,088,114 (GRCm39) |
Y218F |
probably damaging |
Het |
Or7c70 |
T |
G |
10: 78,683,132 (GRCm39) |
I206L |
probably benign |
Het |
Or8c20 |
C |
T |
9: 38,260,954 (GRCm39) |
Q186* |
probably null |
Het |
Pabpc6 |
T |
C |
17: 9,888,083 (GRCm39) |
E156G |
probably benign |
Het |
Rorb |
A |
G |
19: 18,939,463 (GRCm39) |
Y155H |
probably damaging |
Het |
Samd9l |
T |
A |
6: 3,376,830 (GRCm39) |
K144* |
probably null |
Het |
Scn1a |
A |
G |
2: 66,148,476 (GRCm39) |
I3T |
probably benign |
Het |
Serpinb9 |
T |
C |
13: 33,194,793 (GRCm39) |
M183T |
possibly damaging |
Het |
Wnk1 |
A |
G |
6: 119,926,012 (GRCm39) |
S1151P |
probably damaging |
Het |
Xirp2 |
C |
T |
2: 67,338,380 (GRCm39) |
T207I |
probably benign |
Het |
Zfp39 |
T |
C |
11: 58,781,001 (GRCm39) |
Y587C |
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 |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- GTCCTCACATGAGCTCACTATAAAC -3'
(R):5'- TGTCTCTGAGCCTCAAATTTGTG -3'
Sequencing Primer
(F):5'- CATAATCTGAATTCACCACAGTTGTC -3'
(R):5'- CTCTGAGCCTCAAATTTGTGAAAAG -3'
|
Posted On |
2015-04-17 |