Mutagenetix > Incidental Mutation

Incidental Mutation 'R1643:Casr'

173712

Institutional Source

Beutler Lab

Gene Symbol

Casr

Ensembl Gene

ENSMUSG00000051980

Gene Name

calcium-sensing receptor

Synonyms

CaR, cation sensing receptor, Gprc2a

MMRRC Submission

039679-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R1643 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

36314058-36382503 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 36320567 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Arginine at position 527 (K527R)

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: K527R

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000069080
Gene: ENSMUSG00000051980
AA Change: K527R

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 benign
Transcript: ENSMUST00000114847

SMART Domains

Protein: ENSMUSP00000110496
Gene: ENSMUSG00000051980

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

probably damaging
Transcript: ENSMUST00000172826
AA Change: K527R

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000133500
Gene: ENSMUSG00000051980
AA Change: K527R

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

0.1435

Coding Region Coverage

1x: 99.1%
3x: 98.3%
10x: 96.2%
20x: 92.5%

Validation Efficiency

99% (74/75)

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: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700037C18Rik	T	A	16: 3,724,942 (GRCm39)	K45*	probably null	Het
Abcc1	T	A	16: 14,231,232 (GRCm39)	Y457N	probably damaging	Het
Actr3b	A	G	5: 26,017,009 (GRCm39)	D19G	probably damaging	Het
Adam39	T	C	8: 41,279,523 (GRCm39)	V638A	possibly damaging	Het
Adamts1	G	T	16: 85,593,705 (GRCm39)		probably benign	Het
AI661453	A	G	17: 47,778,791 (GRCm39)		probably benign	Het
Ank3	G	A	10: 69,720,632 (GRCm39)	S565N	probably benign	Het
Casd1	A	G	6: 4,621,243 (GRCm39)	E267G	probably benign	Het
Cep128	A	C	12: 91,292,306 (GRCm39)	S248A	probably damaging	Het
Clic4	A	G	4: 134,966,206 (GRCm39)	V50A	possibly damaging	Het
Cylc2	C	T	4: 51,225,173 (GRCm39)	A36V	probably benign	Het
Derl1	T	A	15: 57,741,955 (GRCm39)	M127L	probably benign	Het
Dnah6	A	G	6: 73,021,735 (GRCm39)	V3529A	possibly damaging	Het
Dock1	G	T	7: 134,700,508 (GRCm39)	L1089F	probably damaging	Het
Edil3	T	A	13: 89,437,695 (GRCm39)		probably null	Het
Efcab3	A	T	11: 104,589,804 (GRCm39)	T134S	probably benign	Het
Ephb1	A	G	9: 101,874,024 (GRCm39)	V550A	probably damaging	Het
Fcho2	G	A	13: 98,921,324 (GRCm39)	T187I	probably benign	Het
Gas6	T	C	8: 13,515,902 (GRCm39)		probably null	Het
Gdf7	T	C	12: 8,347,971 (GRCm39)	Y442C	probably damaging	Het
Gm11567	G	A	11: 99,770,623 (GRCm39)	G187E	unknown	Het
Gm8674	T	C	13: 50,055,394 (GRCm39)		noncoding transcript	Het
Ift80	T	A	3: 68,823,490 (GRCm39)	I591F	probably benign	Het
Kcnn3	C	T	3: 89,427,804 (GRCm39)	S10L	unknown	Het
Keg1	A	G	19: 12,696,406 (GRCm39)	I197V	probably benign	Het
Klhdc9	A	G	1: 171,187,034 (GRCm39)		probably null	Het
Klhl11	A	G	11: 100,353,841 (GRCm39)	V660A	probably benign	Het
Lamc1	T	C	1: 153,133,818 (GRCm39)		probably benign	Het
Lrrc73	G	T	17: 46,566,266 (GRCm39)		probably null	Het
Lrriq1	G	A	10: 103,050,685 (GRCm39)	S689L	probably benign	Het
Magi2	A	G	5: 20,910,504 (GRCm39)		probably benign	Het
Meis1	A	G	11: 18,966,278 (GRCm39)	S32P	probably benign	Het
Mia2	A	G	12: 59,226,631 (GRCm39)		probably null	Het
Mlph	T	C	1: 90,869,456 (GRCm39)	L486P	probably damaging	Het
Myh10	A	G	11: 68,682,836 (GRCm39)	E1090G	probably damaging	Het
Mylk	T	C	16: 34,696,005 (GRCm39)	S247P	probably benign	Het
Naip2	C	T	13: 100,298,489 (GRCm39)	A516T	possibly damaging	Het
Ndufc1	T	C	3: 51,315,664 (GRCm39)	T25A	probably benign	Het
Nedd4l	A	G	18: 65,331,712 (GRCm39)	Y636C	probably damaging	Het
Nfib	A	T	4: 82,416,916 (GRCm39)	Y40N	probably damaging	Het
Niban3	A	G	8: 72,052,808 (GRCm39)	D94G	probably benign	Het
Nisch	T	C	14: 30,895,125 (GRCm39)	D1057G	probably damaging	Het
P3h2	T	C	16: 25,791,041 (GRCm39)	H475R	probably benign	Het
Pde6c	C	A	19: 38,150,406 (GRCm39)	T517K	possibly damaging	Het
Piezo2	T	C	18: 63,215,986 (GRCm39)	I994V	probably benign	Het
Pik3r4	A	G	9: 105,564,351 (GRCm39)	D1315G	possibly damaging	Het
Pip5k1c	T	G	10: 81,150,828 (GRCm39)	V46G	probably damaging	Het
Pole	A	G	5: 110,465,711 (GRCm39)	E1213G	probably damaging	Het
Prl7d1	T	C	13: 27,896,114 (GRCm39)	S88G	possibly damaging	Het
Prodh	T	A	16: 17,898,933 (GRCm39)	N72I	probably benign	Het
Prrc2a	G	A	17: 35,375,930 (GRCm39)	R907C	probably damaging	Het
Ptger2	T	A	14: 45,226,423 (GRCm39)	M1K	probably null	Het
Samd4b	G	C	7: 28,123,041 (GRCm39)	Q6E	probably damaging	Het
Sec24a	C	T	11: 51,595,212 (GRCm39)	R916H	probably benign	Het
Slc12a5	C	A	2: 164,835,947 (GRCm39)	D865E	probably benign	Het
Slc17a3	T	C	13: 24,041,181 (GRCm39)		probably benign	Het
Ssrp1	T	C	2: 84,871,529 (GRCm39)	V317A	possibly damaging	Het
Stim1	A	G	7: 102,035,307 (GRCm39)	D95G	possibly damaging	Het
Taok2	A	T	7: 126,475,110 (GRCm39)		probably benign	Het
Tcof1	T	G	18: 60,949,300 (GRCm39)	K1205T	possibly damaging	Het
Trim43c	C	T	9: 88,729,530 (GRCm39)	R325C	probably damaging	Het
Trub2	T	G	2: 29,667,948 (GRCm39)	T231P	probably damaging	Het
Ttn	A	T	2: 76,641,587 (GRCm39)	L5176Q	possibly damaging	Het
Uty	T	A	Y: 1,152,054 (GRCm39)	D724V	probably damaging	Het
Vmn2r98	A	G	17: 19,301,170 (GRCm39)	D724G	probably damaging	Het
Wdfy3	A	G	5: 102,023,781 (GRCm39)	I2442T	possibly damaging	Het
Wdfy4	T	C	14: 32,795,542 (GRCm39)		probably null	Het
Zfp280b	A	G	10: 75,875,444 (GRCm39)	H441R	probably damaging	Het
Zfp60	A	T	7: 27,436,400 (GRCm39)	Q7L	probably damaging	Het
Zzef1	T	C	11: 72,717,028 (GRCm39)	L406S	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
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'- TGGTCAGTCATGAAGCTCAGGCTC -3'
(R):5'- TAGGTCCTGAAACACCTACGGCAC -3'

Sequencing Primer
(F):5'- gttaagagcactgactattcttcc -3'
(R):5'- CTGAATTTCACCAACAACATGGGG -3'

Posted On

2014-04-24