Incidental Mutation 'R6972:Calcrl'
| ID |
542281 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Calcrl
|
| Ensembl Gene |
ENSMUSG00000059588 |
| Gene Name |
calcitonin receptor-like |
| Synonyms |
CRLR |
| MMRRC Submission |
045082-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R6972 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
84160970-84255755 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to G
at 84198922 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Leucine
at position 156
(I156L)
|
| 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: I156L
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000073875
Gene: ENSMUSG00000059588
AA Change: I156L
| 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: I156L
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000097527
Gene: ENSMUSG00000059588
AA Change: I156L
| Domain | Start | End | E-Value | Type |
|---|
|
HormR
|
60 |
135 |
1.4e-26 |
SMART |
|
Pfam:7tm_2
|
137 |
379 |
3.2e-80 |
PFAM |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.0%
- 20x: 95.8%
|
| Validation Efficiency |
100% (41/41) |
| 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: 42 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abhd2 |
A |
G |
7: 79,003,775 (GRCm39) |
S285G |
probably benign |
Het |
| Afg1l |
T |
C |
10: 42,354,370 (GRCm39) |
T10A |
probably benign |
Het |
| Akap9 |
A |
G |
5: 4,096,699 (GRCm39) |
N2525D |
possibly damaging |
Het |
| B3gnt7 |
G |
A |
1: 86,233,109 (GRCm39) |
M1I |
probably null |
Het |
| Bdp1 |
T |
C |
13: 100,174,269 (GRCm39) |
E2089G |
probably null |
Het |
| Cd69 |
T |
C |
6: 129,246,543 (GRCm39) |
S122G |
probably benign |
Het |
| Chek2 |
T |
C |
5: 111,003,705 (GRCm39) |
|
probably null |
Het |
| Ckap5 |
T |
A |
2: 91,436,658 (GRCm39) |
I1586K |
probably damaging |
Het |
| Cyp4f14 |
C |
T |
17: 33,124,483 (GRCm39) |
A523T |
probably benign |
Het |
| Dcaf1 |
T |
A |
9: 106,723,971 (GRCm39) |
C466* |
probably null |
Het |
| Dcdc2a |
A |
T |
13: 25,304,372 (GRCm39) |
|
probably benign |
Het |
| Eml5 |
T |
C |
12: 98,842,439 (GRCm39) |
I220V |
probably benign |
Het |
| Etv2 |
T |
C |
7: 30,334,167 (GRCm39) |
N189D |
probably benign |
Het |
| Fuz |
T |
C |
7: 44,546,755 (GRCm39) |
|
probably benign |
Het |
| Git1 |
T |
G |
11: 77,390,347 (GRCm39) |
V64G |
probably damaging |
Het |
| Gpr162 |
C |
T |
6: 124,838,272 (GRCm39) |
R126H |
probably damaging |
Het |
| Grm5 |
T |
C |
7: 87,252,131 (GRCm39) |
V127A |
probably benign |
Het |
| Iqsec1 |
T |
C |
6: 90,653,750 (GRCm39) |
D665G |
probably damaging |
Het |
| Kcnh1 |
A |
G |
1: 191,959,144 (GRCm39) |
I233V |
probably damaging |
Het |
| Lmcd1 |
C |
T |
6: 112,287,659 (GRCm39) |
T115I |
probably damaging |
Het |
| Mybpc1 |
T |
C |
10: 88,396,223 (GRCm39) |
E208G |
possibly damaging |
Het |
| Nfic |
C |
A |
10: 81,256,191 (GRCm39) |
A158S |
probably benign |
Het |
| Nos3 |
A |
T |
5: 24,585,241 (GRCm39) |
I798L |
probably benign |
Het |
| Ntrk1 |
A |
T |
3: 87,691,288 (GRCm39) |
L292Q |
probably damaging |
Het |
| Or2ag16 |
A |
G |
7: 106,351,906 (GRCm39) |
S230P |
possibly damaging |
Het |
| Orc4 |
T |
C |
2: 48,817,196 (GRCm39) |
Q164R |
probably benign |
Het |
| Pcdhb14 |
T |
A |
18: 37,582,745 (GRCm39) |
V617E |
probably damaging |
Het |
| Pira1 |
C |
G |
7: 3,740,319 (GRCm39) |
A301P |
probably damaging |
Het |
| Plscr3 |
G |
A |
11: 69,738,784 (GRCm39) |
E149K |
probably damaging |
Het |
| Pltp |
A |
G |
2: 164,688,512 (GRCm39) |
|
probably null |
Het |
| Pramel11 |
A |
G |
4: 143,623,472 (GRCm39) |
L234P |
probably damaging |
Het |
| Prg2 |
G |
A |
2: 84,812,617 (GRCm39) |
R109H |
probably benign |
Het |
| Ptprj |
G |
A |
2: 90,410,747 (GRCm39) |
S62F |
possibly damaging |
Het |
| Resf1 |
T |
A |
6: 149,227,607 (GRCm39) |
Y218N |
probably damaging |
Het |
| Skint3 |
T |
A |
4: 112,116,089 (GRCm39) |
S240T |
probably damaging |
Het |
| Smarca5 |
A |
G |
8: 81,431,380 (GRCm39) |
Y946H |
probably damaging |
Het |
| Taf4b |
T |
C |
18: 14,946,404 (GRCm39) |
V409A |
possibly damaging |
Het |
| Tafa2 |
A |
G |
10: 123,540,278 (GRCm39) |
T45A |
probably benign |
Het |
| Trim29 |
T |
A |
9: 43,238,409 (GRCm39) |
N504K |
probably benign |
Het |
| Vmn2r77 |
T |
C |
7: 86,452,202 (GRCm39) |
Y461H |
probably damaging |
Het |
| Zeb2 |
T |
C |
2: 44,887,330 (GRCm39) |
K531E |
probably damaging |
Het |
| Zfp687 |
A |
G |
3: 94,916,688 (GRCm39) |
S813P |
possibly 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 |
|
|
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 |
|
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'- GCACCCTGCCTATTTCATGAAAC -3'
(R):5'- TGTCTCTGAGCCTCAAATTTGTG -3'
Sequencing Primer
(F):5'- TCCTCACATGAGCTCAC -3'
(R):5'- AGCAAGTGTTTGTAAATCTCTCTCC -3'
|
| Posted On |
2018-11-28 |
Incidental Mutation