Mutagenetix > Incidental Mutation

Incidental Mutation 'R4745:Calcr'

356637

Institutional Source

Beutler Lab

Gene Symbol

Calcr

Ensembl Gene

ENSMUSG00000023964

Gene Name

calcitonin receptor

Synonyms

Clr

MMRRC Submission

042028-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4745 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

3685680-3764714 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 3692576 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Phenylalanine at position 389 (Y389F)

Ref Sequence

ENSEMBL: ENSMUSP00000130083 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000075644] [ENSMUST00000115622] [ENSMUST00000168592] [ENSMUST00000170266] [ENSMUST00000171613]

AlphaFold

Q60755

Predicted Effect

probably damaging
Transcript: ENSMUST00000075644
AA Change: Y426F

PolyPhen 2 Score 0.973 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000075070
Gene: ENSMUSG00000023964
AA Change: Y426F

Domain	Start	End	E-Value	Type
signal peptide	1	41	N/A	INTRINSIC
HormR	85	160	4.33e-32	SMART
Pfam:7tm_2	162	441	5.2e-85	PFAM
Pfam:Dicty_CAR	259	410	5e-8	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000115622
AA Change: Y389F

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000111285
Gene: ENSMUSG00000023964
AA Change: Y389F

Domain	Start	End	E-Value	Type
signal peptide	1	41	N/A	INTRINSIC
HormR	85	160	4.33e-32	SMART
Pfam:7tm_2	162	404	1.1e-85	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000168592
AA Change: Y389F

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000130243
Gene: ENSMUSG00000023964
AA Change: Y389F

Domain	Start	End	E-Value	Type
signal peptide	1	41	N/A	INTRINSIC
HormR	85	160	4.33e-32	SMART
Pfam:7tm_2	162	404	1.1e-85	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000170266
AA Change: Y426F

PolyPhen 2 Score 0.973 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000132124
Gene: ENSMUSG00000023964
AA Change: Y426F

Domain	Start	End	E-Value	Type
signal peptide	1	41	N/A	INTRINSIC
HormR	85	160	4.33e-32	SMART
Pfam:7tm_2	162	441	2.2e-84	PFAM
Pfam:Dicty_CAR	257	399	2.5e-7	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000171613
AA Change: Y389F

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000130083
Gene: ENSMUSG00000023964
AA Change: Y389F

Domain	Start	End	E-Value	Type
signal peptide	1	41	N/A	INTRINSIC
HormR	85	160	4.33e-32	SMART
Pfam:7tm_2	162	404	1.1e-85	PFAM

Meta Mutation Damage Score

0.1590

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.1%
20x: 94.8%

Validation Efficiency

97% (89/92)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a high affinity receptor for the peptide hormone calcitonin and belongs to a subfamily of seven transmembrane-spanning G protein-coupled receptors. The encoded protein is involved in maintaining calcium homeostasis and in regulating osteoclast-mediated bone resorption. Polymorphisms in this gene have been associated with variations in bone mineral density and onset of osteoporosis. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Sep 2009]
PHENOTYPE: Haploinsufficiency may result in increased bone density due to increased bone formation. Homozygous inactivation may result in embryonic lethality. Mice homozygous for another disruption allele at this locus show a normal phenotype. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 78 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca17	T	C	17: 24,526,427 (GRCm39)	Y619C	probably damaging	Het
Adck1	A	G	12: 88,368,949 (GRCm39)		probably null	Het
Agap3	A	C	5: 24,656,123 (GRCm39)		probably null	Het
Ankib1	A	T	5: 3,782,566 (GRCm39)	H354Q	probably damaging	Het
Ankrd29	T	G	18: 12,387,679 (GRCm39)	N301T	probably benign	Het
Arhgef4	A	G	1: 34,846,356 (GRCm39)	T379A	probably damaging	Het
Arid1a	A	G	4: 133,480,417 (GRCm39)	V169A	probably benign	Het
Bag2	T	C	1: 33,787,417 (GRCm39)		probably null	Het
Bmt2	A	C	6: 13,628,686 (GRCm39)	Y332*	probably null	Het
Bpifb1	A	T	2: 154,053,501 (GRCm39)	K248*	probably null	Het
Caap1	C	A	4: 94,444,751 (GRCm39)		probably null	Het
Capn1	C	T	19: 6,043,946 (GRCm39)	V562I	probably benign	Het
Ccr1	T	A	9: 123,763,985 (GRCm39)	T182S	probably benign	Het
Ceacam15	T	C	7: 16,407,259 (GRCm39)	D86G	probably benign	Het
Cldnd1	C	T	16: 58,550,006 (GRCm39)	T63I	probably benign	Het
Col12a1	A	T	9: 79,559,368 (GRCm39)		probably null	Het
Cystm1	A	G	18: 36,526,348 (GRCm39)		probably benign	Het
Ddx55	T	A	5: 124,705,028 (GRCm39)	Y428*	probably null	Het
Ensa	G	A	3: 95,538,745 (GRCm39)	G118D	probably benign	Het
Folh1	A	T	7: 86,372,482 (GRCm39)		probably null	Het
Foxj2	C	A	6: 122,814,948 (GRCm39)	P328Q	probably damaging	Het
Fscn3	A	G	6: 28,435,627 (GRCm39)	I417V	probably damaging	Het
Galnt7	T	C	8: 57,995,761 (GRCm39)		probably benign	Het
Gm11563	T	A	11: 99,549,246 (GRCm39)	*169C	probably null	Het
Hfm1	A	T	5: 107,049,709 (GRCm39)	D417E	possibly damaging	Het
Ighv15-2	A	G	12: 114,528,230 (GRCm39)	S107P	probably damaging	Het
Itsn2	A	G	12: 4,711,944 (GRCm39)	D904G	probably damaging	Het
Kif1b	A	T	4: 149,322,339 (GRCm39)	L860*	probably null	Het
Krt79	T	C	15: 101,839,119 (GRCm39)	E450G	probably damaging	Het
Lama1	T	C	17: 68,045,775 (GRCm39)	S227P	probably damaging	Het
Lamp5	C	A	2: 135,902,786 (GRCm39)	H168Q	probably benign	Het
Lilra5	A	T	7: 4,245,076 (GRCm39)	Q240L	possibly damaging	Het
Lrp1	A	T	10: 127,385,813 (GRCm39)	C3521S	probably benign	Het
Mroh1	T	A	15: 76,292,730 (GRCm39)		probably null	Het
Nlrp4g	A	T	9: 124,349,515 (GRCm38)		noncoding transcript	Het
Nr2f6	A	T	8: 71,831,179 (GRCm39)	I70N	probably benign	Het
Nr4a2	T	A	2: 57,000,163 (GRCm39)	D311V	probably damaging	Het
Odad2	G	A	18: 7,286,763 (GRCm39)	T156M	probably benign	Het
Or10w1	T	A	19: 13,632,750 (GRCm39)	M319K	probably benign	Het
Or10x4	T	C	1: 174,219,442 (GRCm39)	L269P	probably damaging	Het
Or52n20	T	A	7: 104,320,711 (GRCm39)	F267L	probably damaging	Het
Pcdhb6	C	A	18: 37,468,426 (GRCm39)	A449D	possibly damaging	Het
Pcgf6	A	G	19: 47,036,545 (GRCm39)		probably null	Het
Prc1	C	A	7: 79,962,911 (GRCm39)	H131Q	probably benign	Het
Ptprq	C	A	10: 107,360,114 (GRCm39)	R2187L	probably damaging	Het
Rasl2-9	C	A	7: 5,128,702 (GRCm39)	R76L	possibly damaging	Het
Rdh16f1	A	T	10: 127,626,685 (GRCm39)	Y246F	probably benign	Het
Rit1	T	C	3: 88,624,982 (GRCm39)		probably benign	Het
Sash1	A	G	10: 8,605,672 (GRCm39)	V906A	probably benign	Het
Scnn1b	T	C	7: 121,501,509 (GRCm39)	V108A	probably benign	Het
Sema4f	A	T	6: 82,895,265 (GRCm39)	I356N	probably damaging	Het
Shc4	A	T	2: 125,491,197 (GRCm39)	L447Q	probably damaging	Het
Slc24a1	T	C	9: 64,856,758 (GRCm39)	M50V	unknown	Het
Slc28a3	T	A	13: 58,722,077 (GRCm39)	D269V	possibly damaging	Het
Slc35e1	A	G	8: 73,246,166 (GRCm39)	S89P	possibly damaging	Het
Smpd5	T	A	15: 76,179,008 (GRCm39)	H125Q	probably benign	Het
Snapc2	A	G	8: 4,304,578 (GRCm39)	T31A	probably damaging	Het
Sox5	G	C	6: 143,779,214 (GRCm39)	H606D	possibly damaging	Het
Spag6	A	G	2: 18,742,107 (GRCm39)	T367A	possibly damaging	Het
Spag8	T	C	4: 43,651,636 (GRCm39)	T413A	probably damaging	Het
Sptlc3	G	A	2: 139,389,087 (GRCm39)	G156R	probably damaging	Het
Stx19	A	G	16: 62,642,783 (GRCm39)	T200A	probably benign	Het
Tas2r116	A	G	6: 132,832,668 (GRCm39)	T90A	probably benign	Het
Tasor2	G	A	13: 3,640,069 (GRCm39)	T356I	probably benign	Het
Tbl3	A	G	17: 24,924,304 (GRCm39)		probably benign	Het
Tekt5	G	T	16: 10,213,058 (GRCm39)	P76T	probably damaging	Het
Tjp2	C	T	19: 24,074,030 (GRCm39)	E1086K	possibly damaging	Het
Topbp1	T	C	9: 103,200,770 (GRCm39)	L601P	probably damaging	Het
Trav16	T	A	14: 53,980,934 (GRCm39)	M41K	possibly damaging	Het
Trav6-5	C	A	14: 53,728,960 (GRCm39)	N72K	probably benign	Het
Trpm3	C	G	19: 22,692,659 (GRCm39)	T250S	possibly damaging	Het
Vps35	A	T	8: 85,987,891 (GRCm39)	D753E	probably benign	Het
Vstm2a	A	T	11: 16,213,061 (GRCm39)	N149Y	probably damaging	Het
Vwa2	G	T	19: 56,895,318 (GRCm39)	M497I	probably benign	Het
Zfat	C	A	15: 68,052,223 (GRCm39)	V517L	probably benign	Het
Zfp169	C	A	13: 48,643,708 (GRCm39)	R473L	possibly damaging	Het
Zfp672	T	C	11: 58,220,324 (GRCm39)		probably benign	Het
Zranb1	T	C	7: 132,574,443 (GRCm39)	V420A	probably damaging	Het

Other mutations in Calcr

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00743:Calcr	APN	6	3,717,196 (GRCm39)	missense	probably damaging	1.00
IGL01146:Calcr	APN	6	3,700,144 (GRCm39)	missense	possibly damaging	0.88
IGL02253:Calcr	APN	6	3,707,523 (GRCm39)	missense	probably benign	0.12
IGL02567:Calcr	APN	6	3,691,564 (GRCm39)	missense	probably damaging	1.00
IGL02729:Calcr	APN	6	3,707,595 (GRCm39)	missense	probably benign
IGL03062:Calcr	APN	6	3,693,718 (GRCm39)	missense	probably benign	0.08
R0111:Calcr	UTSW	6	3,717,157 (GRCm39)	missense	probably damaging	1.00
R0561:Calcr	UTSW	6	3,692,630 (GRCm39)	missense	probably damaging	0.99
R1013:Calcr	UTSW	6	3,692,621 (GRCm39)	missense	probably damaging	1.00
R1628:Calcr	UTSW	6	3,700,251 (GRCm39)	missense	possibly damaging	0.53
R2152:Calcr	UTSW	6	3,687,615 (GRCm39)	missense	probably benign	0.03
R2206:Calcr	UTSW	6	3,717,133 (GRCm39)	missense	probably damaging	0.98
R2207:Calcr	UTSW	6	3,717,133 (GRCm39)	missense	probably damaging	0.98
R3403:Calcr	UTSW	6	3,687,604 (GRCm39)	missense	probably benign	0.04
R3781:Calcr	UTSW	6	3,700,193 (GRCm39)	missense	possibly damaging	0.93
R3782:Calcr	UTSW	6	3,700,193 (GRCm39)	missense	possibly damaging	0.93
R3851:Calcr	UTSW	6	3,693,735 (GRCm39)	missense	probably damaging	1.00
R3852:Calcr	UTSW	6	3,693,735 (GRCm39)	missense	probably damaging	1.00
R4190:Calcr	UTSW	6	3,717,106 (GRCm39)	missense	possibly damaging	0.82
R4387:Calcr	UTSW	6	3,707,581 (GRCm39)	missense	probably damaging	0.98
R4402:Calcr	UTSW	6	3,708,484 (GRCm39)	critical splice donor site	probably null
R4403:Calcr	UTSW	6	3,708,484 (GRCm39)	critical splice donor site	probably null
R4494:Calcr	UTSW	6	3,708,484 (GRCm39)	critical splice donor site	probably null
R4495:Calcr	UTSW	6	3,708,484 (GRCm39)	critical splice donor site	probably null
R4857:Calcr	UTSW	6	3,708,511 (GRCm39)	missense	probably benign	0.29
R4883:Calcr	UTSW	6	3,714,705 (GRCm39)	missense	probably damaging	1.00
R5168:Calcr	UTSW	6	3,708,610 (GRCm39)	missense	probably benign	0.00
R5375:Calcr	UTSW	6	3,714,651 (GRCm39)	missense	probably benign	0.00
R5643:Calcr	UTSW	6	3,708,538 (GRCm39)	missense	probably damaging	1.00
R5644:Calcr	UTSW	6	3,708,538 (GRCm39)	missense	probably damaging	1.00
R5688:Calcr	UTSW	6	3,714,730 (GRCm39)	splice site	probably null
R5799:Calcr	UTSW	6	3,707,592 (GRCm39)	missense	probably benign	0.13
R5920:Calcr	UTSW	6	3,722,994 (GRCm39)	missense	probably damaging	0.97
R6249:Calcr	UTSW	6	3,692,711 (GRCm39)	missense	possibly damaging	0.49
R6329:Calcr	UTSW	6	3,687,621 (GRCm39)	missense	probably damaging	1.00
R6357:Calcr	UTSW	6	3,714,710 (GRCm39)	missense	probably benign	0.00
R6365:Calcr	UTSW	6	3,711,455 (GRCm39)	missense	probably benign	0.00
R6393:Calcr	UTSW	6	3,708,586 (GRCm39)	missense	probably damaging	1.00
R6547:Calcr	UTSW	6	3,717,177 (GRCm39)	missense	probably damaging	1.00
R7034:Calcr	UTSW	6	3,692,543 (GRCm39)	missense	probably damaging	1.00
R7208:Calcr	UTSW	6	3,687,612 (GRCm39)	missense	probably benign	0.00
R7342:Calcr	UTSW	6	3,691,536 (GRCm39)	missense	probably benign	0.03
R7430:Calcr	UTSW	6	3,708,586 (GRCm39)	missense	probably damaging	1.00
R7601:Calcr	UTSW	6	3,687,603 (GRCm39)	missense	probably benign	0.05
R7853:Calcr	UTSW	6	3,707,499 (GRCm39)	missense	probably benign
R8084:Calcr	UTSW	6	3,687,615 (GRCm39)	missense	probably benign	0.00
R8181:Calcr	UTSW	6	3,693,899 (GRCm39)	missense	probably benign	0.16
R8559:Calcr	UTSW	6	3,692,603 (GRCm39)	missense	probably damaging	1.00
R8726:Calcr	UTSW	6	3,707,489 (GRCm39)	intron	probably benign
R9183:Calcr	UTSW	6	3,711,463 (GRCm39)	missense	probably damaging	1.00
R9356:Calcr	UTSW	6	3,687,408 (GRCm39)	missense	probably benign	0.41
R9716:Calcr	UTSW	6	3,687,468 (GRCm39)	missense	probably benign	0.21

Predicted Primers

PCR Primer
(F):5'- AGGGGCCTGTGTATCAATAAAG -3'
(R):5'- TCTCAACATTGTCCGCGTGC -3'

Sequencing Primer
(F):5'- CCTTCAAAATTTTTGGTTGGGTCTAC -3'
(R):5'- AACATTGTCCGCGTGCTTGTG -3'

Posted On

2015-11-11