Incidental Mutation 'R5700:Casr'
| ID |
450868 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Casr
|
| Ensembl Gene |
ENSMUSG00000051980 |
| Gene Name |
calcium-sensing receptor |
| Synonyms |
CaR, cation sensing receptor, Gprc2a |
| MMRRC Submission |
043328-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R5700 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
16 |
| Chromosomal Location |
36314058-36382503 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 36329979 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Phenylalanine
at position 452
(I452F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000133500
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000063597]
[ENSMUST00000114847]
[ENSMUST00000172826]
|
| AlphaFold |
Q9QY96 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000063597
AA Change: I452F
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000069080
Gene: ENSMUSG00000051980
AA Change: I452F
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
19 |
N/A |
INTRINSIC |
|
Pfam:Peripla_BP_6
|
63 |
321 |
1e-13 |
PFAM |
|
Pfam:ANF_receptor
|
69 |
495 |
1.1e-114 |
PFAM |
|
Pfam:NCD3G
|
538 |
591 |
1.4e-20 |
PFAM |
|
Pfam:7tm_3
|
624 |
859 |
7.4e-61 |
PFAM |
|
low complexity region
|
894 |
920 |
N/A |
INTRINSIC |
|
low complexity region
|
930 |
961 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000114847
AA Change: I452F
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000110496
Gene: ENSMUSG00000051980
AA Change: I452F
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
19 |
N/A |
INTRINSIC |
|
Pfam:Peripla_BP_6
|
63 |
321 |
2.1e-14 |
PFAM |
|
Pfam:ANF_receptor
|
69 |
461 |
2.8e-99 |
PFAM |
|
Pfam:NCD3G
|
461 |
514 |
1.2e-20 |
PFAM |
|
Pfam:7tm_3
|
545 |
783 |
9.9e-87 |
PFAM |
|
low complexity region
|
817 |
843 |
N/A |
INTRINSIC |
|
low complexity region
|
853 |
884 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000158493
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000172826
AA Change: I452F
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000133500
Gene: ENSMUSG00000051980
AA Change: I452F
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
19 |
N/A |
INTRINSIC |
|
Pfam:Peripla_BP_6
|
63 |
321 |
2.4e-14 |
PFAM |
|
Pfam:ANF_receptor
|
69 |
495 |
3.9e-111 |
PFAM |
|
Pfam:NCD3G
|
538 |
591 |
1.4e-20 |
PFAM |
|
Pfam:7tm_3
|
622 |
860 |
1.1e-86 |
PFAM |
|
low complexity region
|
894 |
920 |
N/A |
INTRINSIC |
|
low complexity region
|
930 |
961 |
N/A |
INTRINSIC |
|
| Meta Mutation Damage Score |
0.3731 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.4%
|
| Validation Efficiency |
98% (50/51) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a G protein-coupled receptor that is expressed in the parathyroid hormone (PTH)-producing chief cells of the parathyroid gland, and the cells lining the kidney tubule. It senses small changes in circulating calcium concentration and couples this information to intracellular signaling pathways that modify PTH secretion or renal cation handling, thus this protein plays an essential role in maintaining mineral ion homeostasis. Mutations in this gene cause familial hypocalciuric hypercalcemia, familial, isolated hypoparathyroidism, and neonatal severe primary hyperparathyroidism. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygotes for a targeted null mutation exhibit high levels of serum calcium and parathyroid hormone, parathyroid hyperplasia, bone defects, reduced growth, and early death. Carriers have elevated serum calcium, magnesium, and parathyroid hormone levels. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 49 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc2 |
A |
T |
19: 43,786,633 (GRCm39) |
Q155L |
probably benign |
Het |
| Acadvl |
A |
C |
11: 69,904,029 (GRCm39) |
Y242D |
probably damaging |
Het |
| Armc8 |
A |
G |
9: 99,378,202 (GRCm39) |
|
probably null |
Het |
| Barx2 |
A |
T |
9: 31,770,061 (GRCm39) |
F156I |
probably damaging |
Het |
| Best1 |
T |
C |
19: 9,974,563 (GRCm39) |
|
probably benign |
Het |
| Btbd8 |
T |
C |
5: 107,651,514 (GRCm39) |
S136P |
possibly damaging |
Het |
| Btla |
T |
A |
16: 45,070,936 (GRCm39) |
Y298* |
probably null |
Het |
| Ccser1 |
C |
A |
6: 61,288,260 (GRCm39) |
P141H |
probably benign |
Het |
| Cr2 |
A |
G |
1: 194,842,065 (GRCm39) |
V296A |
probably damaging |
Het |
| Csl |
T |
A |
10: 99,594,877 (GRCm39) |
I63F |
probably damaging |
Het |
| Dbt |
G |
A |
3: 116,313,952 (GRCm39) |
V40M |
probably damaging |
Het |
| Fam53b |
A |
T |
7: 132,361,749 (GRCm39) |
L93Q |
probably damaging |
Het |
| Fdps |
T |
C |
3: 89,002,956 (GRCm39) |
I105V |
probably damaging |
Het |
| Gm4884 |
A |
G |
7: 40,692,643 (GRCm39) |
D204G |
probably benign |
Het |
| Gm5592 |
A |
G |
7: 40,808,003 (GRCm39) |
|
probably benign |
Het |
| Gm7367 |
A |
T |
7: 59,805,510 (GRCm39) |
|
noncoding transcript |
Het |
| Grid2 |
T |
A |
6: 64,071,416 (GRCm39) |
V413D |
possibly damaging |
Het |
| Hgf |
C |
T |
5: 16,815,122 (GRCm39) |
P471L |
probably damaging |
Het |
| Hoxc9 |
T |
C |
15: 102,890,313 (GRCm39) |
Y77H |
possibly damaging |
Het |
| Hs6st3 |
C |
T |
14: 119,376,199 (GRCm39) |
R125* |
probably null |
Het |
| Kdm4b |
T |
C |
17: 56,658,700 (GRCm39) |
I15T |
possibly damaging |
Het |
| Klhl1 |
T |
C |
14: 96,755,476 (GRCm39) |
N93S |
probably benign |
Het |
| Klhl6 |
G |
A |
16: 19,775,968 (GRCm39) |
Q197* |
probably null |
Het |
| Medag |
T |
C |
5: 149,345,682 (GRCm39) |
V7A |
probably benign |
Het |
| Mptx2 |
G |
A |
1: 173,102,414 (GRCm39) |
L92F |
probably benign |
Het |
| Nckap5 |
C |
T |
1: 125,904,662 (GRCm39) |
|
probably null |
Het |
| Obscn |
T |
C |
11: 59,024,020 (GRCm39) |
K550R |
probably benign |
Het |
| Or2d36 |
A |
G |
7: 106,746,748 (GRCm39) |
N75S |
probably benign |
Het |
| Or2w1b |
T |
A |
13: 21,300,171 (GRCm39) |
V103E |
probably damaging |
Het |
| Or5h25 |
T |
A |
16: 58,930,356 (GRCm39) |
I206F |
probably damaging |
Het |
| Or7a42 |
T |
C |
10: 78,791,318 (GRCm39) |
I93T |
probably damaging |
Het |
| Parp6 |
T |
C |
9: 59,532,010 (GRCm39) |
S101P |
probably damaging |
Het |
| Plcd3 |
T |
C |
11: 102,964,589 (GRCm39) |
N594S |
probably benign |
Het |
| Plscr5 |
A |
T |
9: 92,087,564 (GRCm39) |
K178* |
probably null |
Het |
| Ppp2r1b |
T |
C |
9: 50,789,457 (GRCm39) |
Y443H |
probably damaging |
Het |
| Prnd |
G |
A |
2: 131,795,263 (GRCm39) |
V128I |
probably benign |
Het |
| Rftn1 |
G |
T |
17: 50,309,697 (GRCm39) |
P156Q |
probably damaging |
Het |
| Scmh1 |
T |
C |
4: 120,374,143 (GRCm39) |
V445A |
probably benign |
Het |
| Serpinb6c |
A |
T |
13: 34,083,291 (GRCm39) |
M41K |
probably damaging |
Het |
| Slc66a1 |
C |
T |
4: 139,027,565 (GRCm39) |
S259N |
probably damaging |
Het |
| Spns1 |
A |
G |
7: 125,971,641 (GRCm39) |
V303A |
possibly damaging |
Het |
| Ston1 |
T |
A |
17: 88,951,767 (GRCm39) |
S639R |
probably damaging |
Het |
| Thbs4 |
T |
C |
13: 92,913,461 (GRCm39) |
D153G |
probably benign |
Het |
| Timm44 |
T |
C |
8: 4,324,171 (GRCm39) |
Y36C |
probably damaging |
Het |
| Trim34b |
G |
T |
7: 103,985,618 (GRCm39) |
V418F |
probably damaging |
Het |
| Vmn1r72 |
C |
T |
7: 11,404,350 (GRCm39) |
V33M |
probably damaging |
Het |
| Zcchc7 |
T |
C |
4: 44,931,084 (GRCm39) |
V412A |
probably benign |
Het |
| Zfand1 |
T |
A |
3: 10,406,079 (GRCm39) |
N210I |
probably damaging |
Het |
| Zfhx3 |
A |
G |
8: 109,660,499 (GRCm39) |
H1251R |
probably damaging |
Het |
|
| Other mutations in Casr |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00157:Casr
|
APN |
16 |
36,316,172 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01587:Casr
|
APN |
16 |
36,330,127 (GRCm39) |
missense |
probably benign |
|
|
IGL02323:Casr
|
APN |
16 |
36,330,072 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02369:Casr
|
APN |
16 |
36,315,051 (GRCm39) |
missense |
probably benign |
0.03 |
|
IGL02514:Casr
|
APN |
16 |
36,320,687 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02547:Casr
|
APN |
16 |
36,336,036 (GRCm39) |
missense |
probably benign |
0.06 |
|
IGL02633:Casr
|
APN |
16 |
36,336,017 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03061:Casr
|
APN |
16 |
36,316,250 (GRCm39) |
missense |
probably benign |
0.07 |
|
R1163:Casr
|
UTSW |
16 |
36,315,169 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1539:Casr
|
UTSW |
16 |
36,315,499 (GRCm39) |
missense |
probably benign |
0.10 |
|
R1643:Casr
|
UTSW |
16 |
36,320,567 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1664:Casr
|
UTSW |
16 |
36,330,327 (GRCm39) |
nonsense |
probably null |
|
|
R1694:Casr
|
UTSW |
16 |
36,315,953 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2040:Casr
|
UTSW |
16 |
36,330,728 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R2092:Casr
|
UTSW |
16 |
36,330,405 (GRCm39) |
missense |
possibly damaging |
0.96 |
|
R2125:Casr
|
UTSW |
16 |
36,315,614 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R2190:Casr
|
UTSW |
16 |
36,315,778 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2214:Casr
|
UTSW |
16 |
36,336,120 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4409:Casr
|
UTSW |
16 |
36,320,703 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4410:Casr
|
UTSW |
16 |
36,320,703 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4591:Casr
|
UTSW |
16 |
36,320,732 (GRCm39) |
missense |
probably benign |
0.05 |
|
R5451:Casr
|
UTSW |
16 |
36,330,270 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5469:Casr
|
UTSW |
16 |
36,330,392 (GRCm39) |
missense |
probably benign |
0.29 |
|
R5581:Casr
|
UTSW |
16 |
36,315,106 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6258:Casr
|
UTSW |
16 |
36,337,971 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6447:Casr
|
UTSW |
16 |
36,315,907 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6751:Casr
|
UTSW |
16 |
36,335,950 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6938:Casr
|
UTSW |
16 |
36,316,283 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7063:Casr
|
UTSW |
16 |
36,314,936 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7313:Casr
|
UTSW |
16 |
36,330,033 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7789:Casr
|
UTSW |
16 |
36,315,653 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8013:Casr
|
UTSW |
16 |
36,330,006 (GRCm39) |
missense |
probably benign |
0.22 |
|
R8026:Casr
|
UTSW |
16 |
36,315,979 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8141:Casr
|
UTSW |
16 |
36,315,173 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8184:Casr
|
UTSW |
16 |
36,330,108 (GRCm39) |
missense |
probably benign |
|
|
R8278:Casr
|
UTSW |
16 |
36,336,011 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8386:Casr
|
UTSW |
16 |
36,335,950 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R8393:Casr
|
UTSW |
16 |
36,330,566 (GRCm39) |
missense |
probably benign |
0.02 |
|
R8682:Casr
|
UTSW |
16 |
36,315,784 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
R9020:Casr
|
UTSW |
16 |
36,315,611 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9051:Casr
|
UTSW |
16 |
36,330,414 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9260:Casr
|
UTSW |
16 |
36,330,326 (GRCm39) |
missense |
probably benign |
0.01 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGGTTTCATGAATCCAATGTCCT -3'
(R):5'- GAAGGCGGCAACAGGTTACT -3'
Sequencing Primer
(F):5'- GCTAGACCTTTGGAAACCATGAGTC -3'
(R):5'- AGGTTACTCAATAGCTCCACTG -3'
|
| Posted On |
2017-01-03 |
Incidental Mutation