Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL02567:Calcr'

298883

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Calcr

Ensembl Gene

ENSMUSG00000023964

Gene Name

calcitonin receptor

Synonyms

Clr

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL02567

Quality Score

Status

Chromosome

Chromosomal Location

3685680-3764714 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 3691564 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Methionine at position 404 (V404M)

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: V441M

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000075070
Gene: ENSMUSG00000023964
AA Change: V441M

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: V404M

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000111285
Gene: ENSMUSG00000023964
AA Change: V404M

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: V404M

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000130243
Gene: ENSMUSG00000023964
AA Change: V404M

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: V441M

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000132124
Gene: ENSMUSG00000023964
AA Change: V441M

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: V404M

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000130083
Gene: ENSMUSG00000023964
AA Change: V404M

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

Coding Region Coverage

Validation Efficiency

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: 47 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aff4	C	A	11: 53,372,751	S199R	possibly damaging	Het
Ano1	A	G	7: 144,611,625	L621P	probably damaging	Het
Carmil3	A	G	14: 55,498,882	S635G	possibly damaging	Het
Ccl12	C	A	11: 82,102,621	S28R	possibly damaging	Het
Cdc45	C	T	16: 18,798,729	M200I	probably benign	Het
Cdhr3	T	C	12: 33,038,901	N761D	probably benign	Het
Col14a1	T	C	15: 55,344,961		probably null	Het
Col28a1	T	C	6: 8,014,819	K862R	possibly damaging	Het
Cyp2c66	C	T	19: 39,186,640		probably benign	Het
D5Ertd615e	T	C	5: 45,163,416		noncoding transcript	Het
Deup1	T	C	9: 15,575,283	E367G	probably damaging	Het
Dpp8	T	G	9: 65,078,776	Y849*	probably null	Het
Efhc1	T	A	1: 20,972,964	V369E	probably damaging	Het
Epg5	A	G	18: 78,033,073	Y2562C	probably damaging	Het
Fam189a1	T	A	7: 64,786,731	M101L	possibly damaging	Het
Fbln5	A	G	12: 101,761,800		probably null	Het
Frem1	A	T	4: 83,000,055	M551K	probably damaging	Het
Gba2	T	C	4: 43,567,281	S889G	probably benign	Het
Golph3	C	T	15: 12,349,421	R176*	probably null	Het
Got2	A	T	8: 95,872,201	F191Y	probably benign	Het
Gtf2ird2	G	T	5: 134,213,048		probably benign	Het
Hist4h4	G	A	6: 136,804,274	R36W	probably damaging	Het
Hivep3	A	G	4: 120,133,956	T2218A	probably damaging	Het
Htr1f	C	T	16: 64,926,248	G227D	probably benign	Het
Ifi202b	C	T	1: 173,963,804	S436N	possibly damaging	Het
Nf1	T	A	11: 79,547,143	V2109D	probably damaging	Het
Opa1	C	A	16: 29,588,286	D29E	probably benign	Het
Papln	C	T	12: 83,778,837	P631S	probably benign	Het
Pde4c	T	A	8: 70,747,921	M352K	probably benign	Het
Pigu	T	C	2: 155,331,192	T129A	possibly damaging	Het
Pla2g4c	T	A	7: 13,346,040	H424Q	probably damaging	Het
Ptpn13	T	G	5: 103,562,291	L1564R	probably damaging	Het
Rbm5	T	C	9: 107,744,274	D642G	probably damaging	Het
Rnf111	T	C	9: 70,459,005	T384A	probably damaging	Het
Scn11a	T	C	9: 119,804,489	T393A	probably damaging	Het
Sned1	A	T	1: 93,274,347	K619M	probably damaging	Het
Srrm1	G	A	4: 135,325,104	P658L	unknown	Het
Syt9	A	G	7: 107,436,661	Y295C	probably damaging	Het
Taar7f	T	A	10: 24,050,425	Y306N	probably damaging	Het
Tmem107	T	G	11: 69,071,019	L25V	possibly damaging	Het
Wdr24	T	G	17: 25,824,348	I48S	probably damaging	Het
Zc3hc1	T	C	6: 30,374,849	D231G	probably benign	Het
Zfp142	T	A	1: 74,578,147	S342C	possibly damaging	Het
Zfp142	T	G	1: 74,578,149	K341T	possibly damaging	Het
Zfp142	T	C	1: 74,578,150	K341E	possibly damaging	Het
Zfp804b	T	A	5: 6,769,989	I989L	probably benign	Het
Zfyve9	A	C	4: 108,674,523	V1095G	probably damaging	Het

Other mutations in Calcr

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00743:Calcr	APN	6	3717196	missense	probably damaging	1.00
IGL01146:Calcr	APN	6	3700144	missense	possibly damaging	0.88
IGL02253:Calcr	APN	6	3707523	missense	probably benign	0.12
IGL02729:Calcr	APN	6	3707595	missense	probably benign
IGL03062:Calcr	APN	6	3693718	missense	probably benign	0.08
R0111:Calcr	UTSW	6	3717157	missense	probably damaging	1.00
R0561:Calcr	UTSW	6	3692630	missense	probably damaging	0.99
R1013:Calcr	UTSW	6	3692621	missense	probably damaging	1.00
R1628:Calcr	UTSW	6	3700251	missense	possibly damaging	0.53
R2152:Calcr	UTSW	6	3687615	missense	probably benign	0.03
R2206:Calcr	UTSW	6	3717133	missense	probably damaging	0.98
R2207:Calcr	UTSW	6	3717133	missense	probably damaging	0.98
R3403:Calcr	UTSW	6	3687604	missense	probably benign	0.04
R3781:Calcr	UTSW	6	3700193	missense	possibly damaging	0.93
R3782:Calcr	UTSW	6	3700193	missense	possibly damaging	0.93
R3851:Calcr	UTSW	6	3693735	missense	probably damaging	1.00
R3852:Calcr	UTSW	6	3693735	missense	probably damaging	1.00
R4190:Calcr	UTSW	6	3717106	missense	possibly damaging	0.82
R4387:Calcr	UTSW	6	3707581	missense	probably damaging	0.98
R4402:Calcr	UTSW	6	3708484	critical splice donor site	probably null
R4403:Calcr	UTSW	6	3708484	critical splice donor site	probably null
R4494:Calcr	UTSW	6	3708484	critical splice donor site	probably null
R4495:Calcr	UTSW	6	3708484	critical splice donor site	probably null
R4745:Calcr	UTSW	6	3692576	missense	probably damaging	0.99
R4857:Calcr	UTSW	6	3708511	missense	probably benign	0.29
R4883:Calcr	UTSW	6	3714705	missense	probably damaging	1.00
R5168:Calcr	UTSW	6	3708610	missense	probably benign	0.00
R5375:Calcr	UTSW	6	3714651	missense	probably benign	0.00
R5643:Calcr	UTSW	6	3708538	missense	probably damaging	1.00
R5644:Calcr	UTSW	6	3708538	missense	probably damaging	1.00
R5688:Calcr	UTSW	6	3714730	splice site	probably null
R5799:Calcr	UTSW	6	3707592	missense	probably benign	0.13
R5920:Calcr	UTSW	6	3722994	missense	probably damaging	0.97
R6249:Calcr	UTSW	6	3692711	missense	possibly damaging	0.49
R6329:Calcr	UTSW	6	3687621	missense	probably damaging	1.00
R6357:Calcr	UTSW	6	3714710	missense	probably benign	0.00
R6365:Calcr	UTSW	6	3711455	missense	probably benign	0.00
R6393:Calcr	UTSW	6	3708586	missense	probably damaging	1.00
R6547:Calcr	UTSW	6	3717177	missense	probably damaging	1.00
R7034:Calcr	UTSW	6	3692543	missense	probably damaging	1.00
R7208:Calcr	UTSW	6	3687612	missense	probably benign	0.00
R7342:Calcr	UTSW	6	3691536	missense	probably benign	0.03
R7430:Calcr	UTSW	6	3708586	missense	probably damaging	1.00
R7601:Calcr	UTSW	6	3687603	missense	probably benign	0.05
R7853:Calcr	UTSW	6	3707499	missense	probably benign
R8084:Calcr	UTSW	6	3687615	missense	probably benign	0.00
R8181:Calcr	UTSW	6	3693899	missense	probably benign	0.16
R8559:Calcr	UTSW	6	3692603	missense	probably damaging	1.00
R8726:Calcr	UTSW	6	3707489	intron	probably benign
R9183:Calcr	UTSW	6	3711463	missense	probably damaging	1.00
R9356:Calcr	UTSW	6	3687408	missense	probably benign	0.41

Posted On

2015-04-16