Mutagenetix > Incidental Mutation

Incidental Mutation 'R1575:Calca'

171098

Institutional Source

Beutler Lab

Gene Symbol

Calca

Ensembl Gene

ENSMUSG00000030669

Gene Name

calcitonin/calcitonin-related polypeptide, alpha

Synonyms

Ct, Cgrp, CA, CT, Calc, Ctn, alpha CGRP

MMRRC Submission

039613-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.150) question?

Stock #

R1575 (G1)

Quality Score

116

Status

Validated

Chromosome

Chromosomal Location

114230713-114235592 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 114234396 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Histidine at position 18 (Y18H)

Ref Sequence

ENSEMBL: ENSMUSP00000032906 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000032906] [ENSMUST00000032907] [ENSMUST00000205714] [ENSMUST00000205933] [ENSMUST00000206156] [ENSMUST00000206853]

AlphaFold

P70160

Predicted Effect

probably damaging
Transcript: ENSMUST00000032906
AA Change: Y18H

PolyPhen 2 Score 0.965 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000032906
Gene: ENSMUSG00000030669
AA Change: Y18H

Domain	Start	End	E-Value	Type
low complexity region	63	73	N/A	INTRINSIC
CALCITONIN	81	123	3.93e-18	SMART

Predicted Effect

possibly damaging
Transcript: ENSMUST00000032907
AA Change: Y18H

PolyPhen 2 Score 0.638 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000032907
Gene: ENSMUSG00000030669
AA Change: Y18H

Domain	Start	End	E-Value	Type
low complexity region	63	73	N/A	INTRINSIC
CALCITONIN	83	120	4.54e-23	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000205560

Predicted Effect

probably benign
Transcript: ENSMUST00000205714
AA Change: Y18H

PolyPhen 2 Score 0.378 (Sensitivity: 0.90; Specificity: 0.89)

Predicted Effect

probably benign
Transcript: ENSMUST00000205933
AA Change: Y18H

PolyPhen 2 Score 0.378 (Sensitivity: 0.90; Specificity: 0.89)

Predicted Effect

probably benign
Transcript: ENSMUST00000206156
AA Change: Y18H

PolyPhen 2 Score 0.378 (Sensitivity: 0.90; Specificity: 0.89)

Predicted Effect

possibly damaging
Transcript: ENSMUST00000206853
AA Change: Y18H

PolyPhen 2 Score 0.638 (Sensitivity: 0.87; Specificity: 0.91)

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 99.1%
3x: 98.2%
10x: 96.0%
20x: 91.5%

Validation Efficiency

100% (72/72)

MGI Phenotype

FUNCTION: This gene encodes the peptide hormones calcitonin, calcitonin gene-related peptide (CGRP) and katacalcin. Alternative splicing of the mRNA results in multiple variants that encode either calcitonin or CGRP preproproteins. Post-translational processing of the calcitonin and CGRP propeptides results in either calcitonin and katacalcin, or CGRP, respectively. Calcitonin and katacalcin modulate calcium levels in the blood stream. CGRP can function as a vasodilator and play a role in the transmission of pain. The human homolog of CGRP was found to have antimicrobial activity. [provided by RefSeq, Mar 2015]
PHENOTYPE: Two separate peptides, calcitonin and calcitonin gene related peptide-alpha (CGRP-alpha), are derived from this locus by alternative splicing. Mice homozygous null for CGRP-alpha have changes in the vascular and nervous system. Mice lacking calcitonin have increased bone mineralization. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 67 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrl2	T	A	3: 148,558,398 (GRCm39)	T437S	probably benign	Het
Akna	A	G	4: 63,297,570 (GRCm39)	F828S	probably benign	Het
Alg9	G	T	9: 50,686,802 (GRCm39)	A40S	possibly damaging	Het
Alox8	T	A	11: 69,076,067 (GRCm39)	H628L	possibly damaging	Het
Aox3	T	C	1: 58,191,713 (GRCm39)	W422R	probably benign	Het
Atp13a4	T	C	16: 29,228,528 (GRCm39)	D984G	probably benign	Het
Bcam	T	C	7: 19,494,307 (GRCm39)	E363G	possibly damaging	Het
Cadps2	C	A	6: 23,429,217 (GRCm39)	V519F	probably damaging	Het
Cd70	A	G	17: 57,453,364 (GRCm39)	I100T	probably damaging	Het
Cdk4	T	A	10: 126,900,520 (GRCm39)	H95Q	probably damaging	Het
Chchd1	T	A	14: 20,753,410 (GRCm39)	N11K	probably damaging	Het
Cma2	T	A	14: 56,210,272 (GRCm39)	N52K	probably damaging	Het
Cyp3a16	A	G	5: 145,373,267 (GRCm39)	V500A	probably benign	Het
Dicer1	A	G	12: 104,688,228 (GRCm39)		probably null	Het
Dnajc13	A	G	9: 104,034,037 (GRCm39)	S2206P	probably benign	Het
Dtl	T	C	1: 191,293,658 (GRCm39)		probably null	Het
Fam186b	T	C	15: 99,184,852 (GRCm39)	T24A	probably benign	Het
Fbxw21	A	G	9: 108,990,984 (GRCm39)	V25A	probably benign	Het
Gins1	T	C	2: 150,754,758 (GRCm39)	S45P	probably benign	Het
Gtpbp2	T	A	17: 46,476,869 (GRCm39)	V349D	probably damaging	Het
Hyal5	G	T	6: 24,876,792 (GRCm39)	D222Y	probably damaging	Het
Itgal	A	G	7: 126,900,060 (GRCm39)		probably null	Het
Klk14	A	G	7: 43,343,377 (GRCm39)		probably null	Het
Lama1	T	A	17: 68,117,404 (GRCm39)	L2518Q	possibly damaging	Het
Lrrc2	G	A	9: 110,808,555 (GRCm39)	G264D	probably benign	Het
Ltbp4	A	G	7: 27,022,245 (GRCm39)	S893P	probably damaging	Het
Mast4	G	A	13: 102,875,771 (GRCm39)	P1107L	probably damaging	Het
Mbd1	T	A	18: 74,408,490 (GRCm39)		probably null	Het
Naip2	A	T	13: 100,291,529 (GRCm39)	D1136E	probably benign	Het
Naip2	G	A	13: 100,291,537 (GRCm39)		probably benign	Het
Ncan	G	A	8: 70,562,848 (GRCm39)	T470I	probably benign	Het
Npy1r	A	T	8: 67,156,813 (GRCm39)	I78F	probably damaging	Het
Or10q1b	A	T	19: 13,682,889 (GRCm39)	M233L	probably benign	Het
Or8b52	G	A	9: 38,576,573 (GRCm39)	T189M	probably damaging	Het
Palb2	A	T	7: 121,710,061 (GRCm39)		probably null	Het
Pax3	T	C	1: 78,080,121 (GRCm39)	T422A	probably benign	Het
Pebp1	A	T	5: 117,424,229 (GRCm39)	D72E	possibly damaging	Het
Pnliprp1	A	T	19: 58,728,901 (GRCm39)	T363S	probably benign	Het
Rbm44	G	A	1: 91,084,565 (GRCm39)		probably null	Het
Rbm47	T	A	5: 66,182,358 (GRCm39)	Y425F	probably benign	Het
Robo3	G	T	9: 37,340,957 (GRCm39)	A83E	probably damaging	Het
Rrm1	A	G	7: 102,105,721 (GRCm39)	Y279C	probably damaging	Het
Rslcan18	A	T	13: 67,256,121 (GRCm39)		probably benign	Het
Scara5	C	A	14: 65,968,314 (GRCm39)	Q196K	probably benign	Het
Setd1b	C	T	5: 123,301,210 (GRCm39)		probably benign	Het
Siah1a	A	G	8: 87,451,869 (GRCm39)	F205S	probably damaging	Het
Smr2	AT	ATT	5: 88,256,683 (GRCm39)		probably null	Het
Ssu72	A	G	4: 155,815,814 (GRCm39)	D86G	probably benign	Het
St7	G	T	6: 17,886,110 (GRCm39)	K357N	probably damaging	Het
Sv2b	G	A	7: 74,797,425 (GRCm39)	T323I	probably damaging	Het
Syt1	T	C	10: 108,340,361 (GRCm39)	N319S	probably benign	Het
Tanc1	T	A	2: 59,621,995 (GRCm39)	F371L	probably damaging	Het
Tcf20	C	A	15: 82,739,693 (GRCm39)	G586V	probably benign	Het
Tg	T	C	15: 66,601,534 (GRCm39)		probably null	Het
Tyk2	A	T	9: 21,026,758 (GRCm39)	N620K	probably benign	Het
Ube2j1	T	A	4: 33,045,116 (GRCm39)	S130T	probably benign	Het
Ubr2	G	T	17: 47,243,418 (GRCm39)	P1696H	probably damaging	Het
Ubr5	A	T	15: 38,041,085 (GRCm39)	D266E	probably damaging	Het
Vipr2	A	G	12: 116,107,892 (GRCm39)	T426A	probably benign	Het
Vmn2r104	A	T	17: 20,262,477 (GRCm39)	W218R	probably damaging	Het
Vmn2r83	T	A	10: 79,314,956 (GRCm39)	N401K	probably damaging	Het
Vwf	A	G	6: 125,632,214 (GRCm39)	E82G	unknown	Het
Vwf	T	A	6: 125,640,534 (GRCm39)	Y2323*	probably null	Het
Wdr76	T	G	2: 121,359,402 (GRCm39)	V329G	probably damaging	Het
Zan	A	G	5: 137,460,214 (GRCm39)	C1226R	unknown	Het
Zbtb16	G	T	9: 48,743,572 (GRCm39)	Q247K	probably damaging	Het
Zfp541	T	C	7: 15,812,640 (GRCm39)	V431A	possibly damaging	Het

Other mutations in Calca

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL03064:Calca	APN	7	114,232,919 (GRCm39)	missense	probably benign	0.03
R1244:Calca	UTSW	7	114,232,962 (GRCm39)	missense	probably damaging	1.00
R1599:Calca	UTSW	7	114,233,707 (GRCm39)	missense	probably damaging	1.00
R1892:Calca	UTSW	7	114,232,962 (GRCm39)	missense	probably damaging	1.00
R3692:Calca	UTSW	7	114,233,796 (GRCm39)	missense	probably damaging	1.00
R7985:Calca	UTSW	7	114,234,413 (GRCm39)	missense	possibly damaging	0.61
R8087:Calca	UTSW	7	114,231,809 (GRCm39)	missense	probably benign	0.01
R8181:Calca	UTSW	7	114,234,387 (GRCm39)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- AGAGGAAGCAAGTCTAGCACCGTC -3'
(R):5'- AGCCAAAATGTCGGGGAGTCAC -3'

Sequencing Primer
(F):5'- ttattggcaagttagcagattagag -3'
(R):5'- GGAGTCACAGGCATAAGCAC -3'

Posted On

2014-04-13