Incidental Mutation 'R1539:Casr'
ID 171610
Institutional Source Beutler Lab
Gene Symbol Casr
Ensembl Gene ENSMUSG00000051980
Gene Name calcium-sensing receptor
Synonyms CaR, cation sensing receptor, Gprc2a
MMRRC Submission 039578-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R1539 (G1)
Quality Score 225
Status Not validated
Chromosome 16
Chromosomal Location 36314058-36382503 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 36315499 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 857 (V857A)
Ref Sequence ENSEMBL: ENSMUSP00000133500 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000063597] [ENSMUST00000114847] [ENSMUST00000172826]
AlphaFold Q9QY96
Predicted Effect probably benign
Transcript: ENSMUST00000063597
AA Change: V857A

PolyPhen 2 Score 0.102 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000069080
Gene: ENSMUSG00000051980
AA Change: V857A

DomainStartEndE-ValueType
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 benign
Transcript: ENSMUST00000114847
AA Change: V780A

PolyPhen 2 Score 0.026 (Sensitivity: 0.95; Specificity: 0.81)
SMART Domains Protein: ENSMUSP00000110496
Gene: ENSMUSG00000051980
AA Change: V780A

DomainStartEndE-ValueType
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 probably benign
Transcript: ENSMUST00000172826
AA Change: V857A

PolyPhen 2 Score 0.102 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000133500
Gene: ENSMUSG00000051980
AA Change: V857A

DomainStartEndE-ValueType
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
Coding Region Coverage
  • 1x: 99.0%
  • 3x: 97.9%
  • 10x: 94.9%
  • 20x: 88.0%
Validation Efficiency
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: 99 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrv1 T A 13: 81,652,097 (GRCm39) probably null Het
Adh7 A C 3: 137,929,716 (GRCm39) T131P possibly damaging Het
Agxt G A 1: 93,065,701 (GRCm39) G190D probably damaging Het
AI182371 A G 2: 34,978,815 (GRCm39) I193T probably damaging Het
Akna T A 4: 63,297,547 (GRCm39) T836S probably benign Het
Alox12 T C 11: 70,144,069 (GRCm39) probably null Het
Anapc2 C A 2: 25,163,075 (GRCm39) T104K probably benign Het
Ank1 T C 8: 23,583,935 (GRCm39) L346P probably damaging Het
Ankfn1 A T 11: 89,332,217 (GRCm39) I443N probably damaging Het
Arhgef17 G A 7: 100,539,680 (GRCm39) T1066I probably damaging Het
Atg2a C A 19: 6,296,801 (GRCm39) probably null Het
Bpifb5 T A 2: 154,065,776 (GRCm39) H24Q probably benign Het
Brd9 A G 13: 74,092,862 (GRCm39) E283G probably damaging Het
Cadm2 C A 16: 66,581,727 (GRCm39) V184F probably damaging Het
Ccdc18 A T 5: 108,339,843 (GRCm39) Q796L probably damaging Het
Cep290 T C 10: 100,332,690 (GRCm39) V263A probably benign Het
Clec10a A T 11: 70,060,645 (GRCm39) N167Y probably damaging Het
Cog1 A G 11: 113,543,058 (GRCm39) I189V possibly damaging Het
Commd2 A G 3: 57,554,269 (GRCm39) I144T probably benign Het
Cse1l A G 2: 166,768,292 (GRCm39) T197A probably benign Het
Csmd3 A T 15: 47,683,794 (GRCm39) S1783R probably benign Het
Cxxc1 T C 18: 74,352,278 (GRCm39) V334A possibly damaging Het
Dennd2d A G 3: 106,394,236 (GRCm39) I39V probably benign Het
Dgkz G A 2: 91,768,405 (GRCm39) P734S probably damaging Het
Diaph3 T C 14: 86,893,916 (GRCm39) D31G probably damaging Het
Dlec1 T C 9: 118,956,518 (GRCm39) S731P probably benign Het
Dmac2l G A 12: 69,787,845 (GRCm39) D94N probably benign Het
Dnah11 T C 12: 117,894,991 (GRCm39) R3619G probably benign Het
Doc2b A G 11: 75,662,783 (GRCm39) L405P probably damaging Het
Dock3 A T 9: 106,829,563 (GRCm39) I1117N probably damaging Het
Dock3 G A 9: 106,874,112 (GRCm39) A453V probably benign Het
Ece2 T A 16: 20,461,263 (GRCm39) I474N probably damaging Het
Etv4 A T 11: 101,662,513 (GRCm39) probably null Het
Fam171b A T 2: 83,710,442 (GRCm39) M705L probably benign Het
Frem2 T C 3: 53,561,631 (GRCm39) K959E probably benign Het
Fyn T C 10: 39,408,066 (GRCm39) M251T possibly damaging Het
Galnt13 G A 2: 54,747,869 (GRCm39) G250E probably damaging Het
Ggh T C 4: 20,054,204 (GRCm39) probably null Het
Glcci1 A G 6: 8,591,620 (GRCm39) E222G probably damaging Het
Gm1968 G A 16: 29,777,659 (GRCm39) noncoding transcript Het
Gm3604 T A 13: 62,519,414 (GRCm39) I52F possibly damaging Het
Gm43302 T C 5: 105,422,635 (GRCm39) I466V probably benign Het
Gm9789 T C 16: 88,955,034 (GRCm39) S48P unknown Het
Gpat3 A T 5: 101,031,254 (GRCm39) Y136F probably benign Het
Gpr171 T C 3: 59,005,142 (GRCm39) D211G possibly damaging Het
Grep1 T A 17: 23,936,118 (GRCm39) probably benign Het
Hs3st1 T C 5: 39,771,791 (GRCm39) K284R probably benign Het
Htr2a C T 14: 74,882,608 (GRCm39) A198V possibly damaging Het
Ice1 C A 13: 70,754,023 (GRCm39) D688Y probably damaging Het
Jade1 T C 3: 41,559,431 (GRCm39) M504T probably benign Het
Lrp1 T C 10: 127,420,250 (GRCm39) probably null Het
Lsr A T 7: 30,671,517 (GRCm39) I72N possibly damaging Het
Magel2 G A 7: 62,028,557 (GRCm39) R487H possibly damaging Het
Mertk A G 2: 128,624,446 (GRCm39) D619G probably benign Het
Myo1b A T 1: 51,838,722 (GRCm39) V245E probably damaging Het
Myrip T A 9: 120,253,689 (GRCm39) L254Q probably benign Het
Nav3 A G 10: 109,603,031 (GRCm39) S1173P probably damaging Het
Ncoa7 T C 10: 30,647,725 (GRCm39) Y17C probably damaging Het
Ncor2 T C 5: 125,187,003 (GRCm39) E7G probably benign Het
Ninl A G 2: 150,817,867 (GRCm39) V99A probably damaging Het
Noct G T 3: 51,155,333 (GRCm39) E34* probably null Het
Notch1 A T 2: 26,362,125 (GRCm39) Y1043* probably null Het
Or10v1 T C 19: 11,873,855 (GRCm39) S157P possibly damaging Het
Or13a21 T A 7: 139,999,326 (GRCm39) Y120F probably benign Het
Or2d3 A G 7: 106,490,483 (GRCm39) Y278H probably damaging Het
Or6c88 G A 10: 129,406,640 (GRCm39) G39R probably damaging Het
Pde7b C A 10: 20,355,432 (GRCm39) R104L possibly damaging Het
Pkn1 C A 8: 84,396,966 (GRCm39) R890L possibly damaging Het
Podn A T 4: 107,878,764 (GRCm39) Y368N probably damaging Het
Polr1b G A 2: 128,960,019 (GRCm39) probably null Het
Ppp1r3c A T 19: 36,711,361 (GRCm39) F136L probably benign Het
Ppp2ca T A 11: 52,011,800 (GRCm39) F260Y probably damaging Het
Prss39 A G 1: 34,537,616 (GRCm39) S27G possibly damaging Het
Ptch1 A G 13: 63,689,101 (GRCm39) V340A probably benign Het
Ranbp17 T C 11: 33,247,394 (GRCm39) I246V probably damaging Het
Rilpl1 T A 5: 124,653,618 (GRCm39) D181V probably damaging Het
Sdk1 T A 5: 142,080,354 (GRCm39) V1282D probably damaging Het
Sh3rf2 T C 18: 42,282,887 (GRCm39) S514P probably damaging Het
Slc35f2 A T 9: 53,716,992 (GRCm39) I252F possibly damaging Het
Slc7a1 A G 5: 148,272,403 (GRCm39) Y425H possibly damaging Het
Spaca4 G T 7: 45,374,984 (GRCm39) probably benign Het
Spata31d1b T C 13: 59,863,733 (GRCm39) S294P possibly damaging Het
Ssh1 T G 5: 114,090,064 (GRCm39) T342P probably damaging Het
Stk10 T A 11: 32,483,440 (GRCm39) S13T possibly damaging Het
Tbx1 G T 16: 18,402,843 (GRCm39) D214E probably benign Het
Tdp1 A G 12: 99,878,571 (GRCm39) E453G probably damaging Het
Tlr1 T C 5: 65,084,319 (GRCm39) Y86C probably damaging Het
Tmem241 A T 18: 12,176,297 (GRCm39) C124S possibly damaging Het
Trp63 A G 16: 25,703,599 (GRCm39) M516V probably benign Het
Ttc28 T C 5: 111,248,677 (GRCm39) V210A possibly damaging Het
Tut1 C T 19: 8,942,850 (GRCm39) R646W probably benign Het
Ubald1 C T 16: 4,694,261 (GRCm39) E49K possibly damaging Het
Usp28 T C 9: 48,949,096 (GRCm39) Y897H probably benign Het
Vmn2r27 A C 6: 124,168,730 (GRCm39) F800C probably damaging Het
Vmn2r83 T A 10: 79,327,759 (GRCm39) M789K probably damaging Het
Vwa8 A G 14: 79,300,002 (GRCm39) D945G probably benign Het
Wdhd1 T A 14: 47,482,507 (GRCm39) K947N possibly damaging Het
Wdr12 A T 1: 60,123,007 (GRCm39) probably null Het
Xrra1 A T 7: 99,520,564 (GRCm39) E57V probably damaging Het
Other mutations in Casr
AlleleSourceChrCoordTypePredicted EffectPPH 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
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
R5700:Casr UTSW 16 36,329,979 (GRCm39) missense probably damaging 0.99
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'- TGCCGAAGATGACCTTCTGTTTGC -3'
(R):5'- CGGAAGCTGCCAGAGAACTTCAAC -3'

Sequencing Primer
(F):5'- ctgctgctgctgttcttg -3'
(R):5'- CGAAGCCAAGTTCATTACCTTCAG -3'
Posted On 2014-04-13