Mutagenetix > Incidental Mutation

Incidental Mutation 'R2125:Casr'

229808

Institutional Source

Beutler Lab

Gene Symbol

Casr

Ensembl Gene

ENSMUSG00000051980

Gene Name

calcium-sensing receptor

Synonyms

CaR, cation sensing receptor, Gprc2a

MMRRC Submission

040128-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R2125 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

36314058-36382503 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 36315614 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 819 (I819V)

Ref Sequence

ENSEMBL: ENSMUSP00000133500 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000063597] [ENSMUST00000114847] [ENSMUST00000172826]

AlphaFold

Q9QY96

Predicted Effect

possibly damaging
Transcript: ENSMUST00000063597
AA Change: I819V

PolyPhen 2 Score 0.897 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000069080
Gene: ENSMUSG00000051980
AA Change: I819V

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
AA Change: I742V

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)

SMART Domains

Protein: ENSMUSP00000110496
Gene: ENSMUSG00000051980
AA Change: I742V

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

possibly damaging
Transcript: ENSMUST00000172826
AA Change: I819V

PolyPhen 2 Score 0.897 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000133500
Gene: ENSMUSG00000051980
AA Change: I819V

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

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.2%

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: 89 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aadac	A	G	3: 59,947,066 (GRCm39)	T255A	possibly damaging	Het
Abcb10	A	C	8: 124,691,831 (GRCm39)	V378G	probably benign	Het
Ackr2	C	T	9: 121,737,852 (GRCm39)	R76*	probably null	Het
Acly	T	C	11: 100,414,322 (GRCm39)	T35A	probably benign	Het
Acp7	A	C	7: 28,328,974 (GRCm39)	F69V	probably damaging	Het
Acsl3	T	A	1: 78,659,678 (GRCm39)	I110N	probably damaging	Het
Adam5	C	T	8: 25,305,134 (GRCm39)	V107M	probably damaging	Het
Adck2	T	C	6: 39,552,076 (GRCm39)	V281A	probably benign	Het
Adgrv1	A	G	13: 81,567,654 (GRCm39)	V5173A	probably benign	Het
Adgrv1	A	T	13: 81,568,069 (GRCm39)	S5035T	probably benign	Het
Arl10	T	A	13: 54,726,937 (GRCm39)		probably null	Het
B3gnt3	A	G	8: 72,146,002 (GRCm39)	W176R	probably damaging	Het
B4galt4	T	C	16: 38,586,300 (GRCm39)	I3T	probably damaging	Het
Cdh1	T	C	8: 107,383,472 (GRCm39)	V237A	probably damaging	Het
Col22a1	G	A	15: 71,720,426 (GRCm39)	R605C	unknown	Het
Crlf3	A	G	11: 79,950,081 (GRCm39)	V183A	probably benign	Het
Crtac1	C	A	19: 42,312,171 (GRCm39)	V181L	probably damaging	Het
Dclk2	C	T	3: 86,712,946 (GRCm39)	R503Q	possibly damaging	Het
Dnah12	A	T	14: 26,445,613 (GRCm39)	R725*	probably null	Het
Dnhd1	A	T	7: 105,327,178 (GRCm39)	H709L	probably benign	Het
Dop1a	A	G	9: 86,403,099 (GRCm39)	Y1431C	probably damaging	Het
Ecpas	T	C	4: 58,833,978 (GRCm39)	H834R	probably benign	Het
Eif2ak4	A	T	2: 118,252,604 (GRCm39)	H392L	probably benign	Het
Entpd3	T	C	9: 120,384,720 (GRCm39)	I99T	probably damaging	Het
Epha6	T	C	16: 59,503,051 (GRCm39)	D952G	probably damaging	Het
Exoc6	T	C	19: 37,579,389 (GRCm39)	L429P	probably damaging	Het
F13a1	A	G	13: 37,076,815 (GRCm39)	S625P	probably benign	Het
Fcgbpl1	A	T	7: 27,857,447 (GRCm39)	Y2265F	probably benign	Het
Fcho2	T	C	13: 98,912,406 (GRCm39)	N240S	possibly damaging	Het
Fcrl6	C	T	1: 172,426,815 (GRCm39)	V44M	probably benign	Het
Fmo6	A	T	1: 162,757,527 (GRCm39)	M82K	possibly damaging	Het
Gabrr2	T	G	4: 33,095,548 (GRCm39)	I479R	probably damaging	Het
Gnl2	T	A	4: 124,947,278 (GRCm39)	F633L	probably benign	Het
Greb1l	C	T	18: 10,511,422 (GRCm39)	S648F	probably damaging	Het
Gsap	T	A	5: 21,447,811 (GRCm39)	C290S	probably damaging	Het
Gusb	A	G	5: 130,028,288 (GRCm39)	V268A	probably benign	Het
H2-D1	G	A	17: 35,483,091 (GRCm39)		probably null	Het
Hebp2	T	A	10: 18,417,008 (GRCm39)	E164D	probably benign	Het
Higd1a	A	T	9: 121,679,313 (GRCm39)	I58N	probably damaging	Het
Hoxc13	G	T	15: 102,835,658 (GRCm39)	R262L	probably damaging	Het
Ifih1	A	G	2: 62,453,811 (GRCm39)	V218A	probably benign	Het
Impg2	T	A	16: 56,085,427 (GRCm39)	Y1045N	probably damaging	Het
Kcnk1	A	G	8: 126,722,395 (GRCm39)	E66G	probably damaging	Het
Klkb1	A	G	8: 45,728,541 (GRCm39)	V406A	possibly damaging	Het
Klra10	G	A	6: 130,256,241 (GRCm39)	R138W	probably damaging	Het
Lama2	A	C	10: 26,920,449 (GRCm39)	Y193*	probably null	Het
Larp7	T	C	3: 127,336,779 (GRCm39)	T428A	probably benign	Het
Lipg	T	C	18: 75,078,956 (GRCm39)	N432S	probably benign	Het
Loxl1	T	C	9: 58,200,995 (GRCm39)	D489G	probably damaging	Het
Lrguk	A	G	6: 34,069,837 (GRCm39)	K571E	probably benign	Het
Map3k13	C	T	16: 21,710,894 (GRCm39)	T59I	probably benign	Het
Mertk	T	A	2: 128,604,058 (GRCm39)	D397E	probably benign	Het
Mgat3	G	A	15: 80,096,087 (GRCm39)	V305I	probably benign	Het
Mrtfb	T	C	16: 13,218,668 (GRCm39)	V449A	possibly damaging	Het
Mybpc1	G	A	10: 88,409,299 (GRCm39)	Q66*	probably null	Het
Myo3a	A	G	2: 22,468,186 (GRCm39)	D480G	probably benign	Het
Ndufaf3	C	T	9: 108,443,936 (GRCm39)	R31Q	probably benign	Het
Neb	T	C	2: 52,200,650 (GRCm39)	Y343C	probably damaging	Het
Nrxn3	A	G	12: 89,227,290 (GRCm39)		probably null	Het
Or4c10b	A	G	2: 89,711,982 (GRCm39)	M271V	probably benign	Het
Or8k40	A	T	2: 86,584,796 (GRCm39)	N95K	probably benign	Het
Pcsk4	T	C	10: 80,159,713 (GRCm39)	M379V	probably benign	Het
Pdzd2	A	T	15: 12,373,676 (GRCm39)	V2153E	probably benign	Het
Pkd2l1	T	C	19: 44,142,939 (GRCm39)	D427G	possibly damaging	Het
Plcd4	A	G	1: 74,604,311 (GRCm39)	Y763C	probably damaging	Het
Plekhh1	T	C	12: 79,125,774 (GRCm39)	F1270S	probably damaging	Het
Pmfbp1	T	C	8: 110,246,905 (GRCm39)	V259A	probably damaging	Het
Ptprg	T	C	14: 12,179,283 (GRCm38)	S767P	possibly damaging	Het
Rabl3	T	G	16: 37,377,175 (GRCm39)		probably null	Het
Rffl	T	A	11: 82,709,264 (GRCm39)	H53L	probably damaging	Het
Rif1	GCCACCA	GCCA	2: 52,000,336 (GRCm39)		probably benign	Het
Rtl1	C	T	12: 109,560,355 (GRCm39)	V495I	possibly damaging	Het
Scaf11	A	T	15: 96,317,196 (GRCm39)	D789E	possibly damaging	Het
Scn2a	T	A	2: 65,582,423 (GRCm39)	Y1590*	probably null	Het
Siglech	T	A	7: 55,421,434 (GRCm39)	F190I	probably benign	Het
Slc22a22	C	A	15: 57,117,636 (GRCm39)	A302S	probably damaging	Het
Slc46a3	T	A	5: 147,815,954 (GRCm39)	T458S	probably benign	Het
Spta1	G	T	1: 174,035,910 (GRCm39)	R1072L	possibly damaging	Het
Tbx5	A	G	5: 119,974,988 (GRCm39)	T4A	probably benign	Het
Tdrd5	T	C	1: 156,104,143 (GRCm39)	R528G	probably damaging	Het
Tfip11	T	C	5: 112,483,529 (GRCm39)	V648A	possibly damaging	Het
Thumpd3	T	C	6: 113,043,749 (GRCm39)	V388A	probably benign	Het
Tmem131l	C	T	3: 83,850,058 (GRCm39)		probably null	Het
Ttf2	C	A	3: 100,855,509 (GRCm39)	Q895H	possibly damaging	Het
Ttn	A	T	2: 76,720,436 (GRCm39)		probably null	Het
Vmn2r13	A	G	5: 109,306,058 (GRCm39)	S507P	probably benign	Het
Vtn	A	G	11: 78,391,049 (GRCm39)	T210A	probably damaging	Het
Zfp1010	C	A	2: 176,957,195 (GRCm39)	C101F	probably damaging	Het
Znhit2	A	G	19: 6,112,091 (GRCm39)	T279A	probably benign	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
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'- TTGAAAGCATGAGCCGCAG -3'
(R):5'- CATCATCTGGCTCTACACGG -3'

Sequencing Primer
(F):5'- ATGAGCCGCAGTGCTGGAG -3'
(R):5'- GCTGGAAGACGAAATCATCTTC -3'

Posted On

2014-09-17