Mutagenetix > Incidental Mutation

Incidental Mutation 'R9360:Caml'

708649

Institutional Source

Beutler Lab

Gene Symbol

Caml

Ensembl Gene

ENSMUSG00000021501

Gene Name

calcium modulating ligand

Synonyms

Caml

MMRRC Submission

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R9360 (G1)

Quality Score

162.009

Status

Not validated

Chromosome

Chromosomal Location

55770818-55780224 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 55771030 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Histidine at position 43 (N43H)

Ref Sequence

ENSEMBL: ENSMUSP00000021963 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000021963]

AlphaFold

P49070

Predicted Effect

probably damaging
Transcript: ENSMUST00000021963
AA Change: N43H

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

SMART Domains

Protein: ENSMUSP00000021963
Gene: ENSMUSG00000021501
AA Change: N43H

Domain	Start	End	E-Value	Type
Pfam:CAML	21	290	8.8e-143	PFAM

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.1%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The immunosuppressant drug cyclosporin A blocks a calcium-dependent signal from the T-cell receptor (TCR) that normally leads to T-cell activation. When bound to cyclophilin B, cyclosporin A binds and inactivates the key signaling intermediate calcineurin. The protein encoded by this gene functions similarly to cyclosporin A, binding to cyclophilin B and acting downstream of the TCR and upstream of calcineurin by causing an influx of calcium. This integral membrane protein appears to be a new participant in the calcium signal transduction pathway, implicating cyclophilin B in calcium signaling, even in the absence of cyclosporin. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice lacking both functional copies of this gene die during early gestation. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam4	A	G	12: 81,468,261 (GRCm39)	L120P	probably damaging	Het
Asb6	A	G	2: 30,714,334 (GRCm39)	S259P	probably damaging	Het
Atp6v0a2	C	A	5: 124,767,259 (GRCm39)	S7R	possibly damaging	Het
Btbd16	C	T	7: 130,417,516 (GRCm39)	R344C	probably damaging	Het
Cacna1h	G	A	17: 25,594,336 (GRCm39)	A2274V	probably benign	Het
Ccar2	A	G	14: 70,379,445 (GRCm39)	S518P	probably damaging	Het
Cdkl3	A	G	11: 51,924,349 (GRCm39)	I546V	probably null	Het
Chac1	C	T	2: 119,182,854 (GRCm39)	T84I	probably damaging	Het
Col6a6	T	C	9: 105,644,686 (GRCm39)	T1201A	probably benign	Het
Csf1	T	C	3: 107,661,158 (GRCm39)	T120A	possibly damaging	Het
Ctsj	T	A	13: 61,151,634 (GRCm39)	I95F	probably benign	Het
Cyp4f17	C	T	17: 32,743,880 (GRCm39)	R353C	probably benign	Het
Depdc1a	A	G	3: 159,232,168 (GRCm39)	M640V	possibly damaging	Het
Dgkq	A	G	5: 108,798,469 (GRCm39)	V633A	probably damaging	Het
Fdft1	A	T	14: 63,415,189 (GRCm39)	Y14*	probably null	Het
Fktn	G	A	4: 53,734,854 (GRCm39)	G125D	probably benign	Het
Ftdc1	T	C	16: 58,434,234 (GRCm39)	D161G	probably benign	Het
Gfm2	T	A	13: 97,289,752 (GRCm39)	V179E	probably damaging	Het
Gpr12	A	G	5: 146,520,299 (GRCm39)	F208L	probably benign	Het
Greb1	A	G	12: 16,790,037 (GRCm39)	S4P	probably damaging	Het
Hlcs	A	T	16: 93,932,672 (GRCm39)	I717N	probably damaging	Het
Hormad1	G	A	3: 95,483,622 (GRCm39)	A145T	probably benign	Het
Kcmf1	A	T	6: 72,838,826 (GRCm39)	C33*	probably null	Het
Kif13a	A	T	13: 46,962,472 (GRCm39)	S561T	probably benign	Het
Klhl20	G	T	1: 160,921,269 (GRCm39)	P571Q	probably benign	Het
Kpna6	A	T	4: 129,547,635 (GRCm39)	M304K	probably benign	Het
Krt75	T	C	15: 101,476,729 (GRCm39)	K387E	probably damaging	Het
Lum	A	T	10: 97,404,752 (GRCm39)	K216*	probably null	Het
Meioc	A	G	11: 102,565,779 (GRCm39)	N409S	probably benign	Het
Mrpl20	T	C	4: 155,888,402 (GRCm39)		probably null	Het
Naa16	A	T	14: 79,593,943 (GRCm39)	I374N	probably benign	Het
Nbea	A	G	3: 55,943,319 (GRCm39)	I652T	possibly damaging	Het
Nhsl1	G	A	10: 18,194,898 (GRCm39)	G56R	probably damaging	Het
Obscn	T	C	11: 58,973,650 (GRCm39)	I1894V	probably benign	Het
Olig2	A	C	16: 91,023,774 (GRCm39)	T163P	probably damaging	Het
Or13c7c	A	G	4: 43,835,765 (GRCm39)	S242P	probably benign	Het
Or4g7	T	C	2: 111,309,684 (GRCm39)	I185T	probably benign	Het
Or5p81	T	A	7: 108,266,977 (GRCm39)	L118Q	probably damaging	Het
Or7e168	T	A	9: 19,720,529 (GRCm39)	V305D	possibly damaging	Het
Parp4	G	A	14: 56,878,775 (GRCm39)		probably null	Het
Pcdhb2	T	C	18: 37,429,551 (GRCm39)	I508T	probably damaging	Het
Pcdhga8	T	C	18: 37,859,787 (GRCm39)	F281S	probably damaging	Het
Pom121l12	T	A	11: 14,549,516 (GRCm39)	M74K	possibly damaging	Het
Pramel39-ps	G	T	5: 94,451,001 (GRCm39)	P375H	probably damaging	Het
Prpf8	T	C	11: 75,381,156 (GRCm39)	Y219H	possibly damaging	Het
Rhag	T	C	17: 41,142,548 (GRCm39)	V251A	possibly damaging	Het
Rrs1	A	G	1: 9,616,845 (GRCm39)	*366W	probably null	Het
Sgpp2	A	G	1: 78,367,143 (GRCm39)	D92G	probably damaging	Het
Slc44a3	C	A	3: 121,325,908 (GRCm39)		probably benign	Het
Smg8	T	C	11: 86,968,956 (GRCm39)	M257V	probably benign	Het
Taar7e	T	A	10: 23,913,949 (GRCm39)	Y146*	probably null	Het
Tet2	G	T	3: 133,192,903 (GRCm39)	N510K	possibly damaging	Het
Tgfbr3	T	C	5: 107,257,550 (GRCm39)	I836M	unknown	Het
Thada	A	G	17: 84,499,410 (GRCm39)	V1929A	probably benign	Het
Tram1l1	A	T	3: 124,115,899 (GRCm39)	D353V	probably damaging	Het
Trf	T	A	9: 103,094,734 (GRCm39)		probably null	Het
Trim15	A	T	17: 37,177,942 (GRCm39)	C18S	probably damaging	Het
Vmn1r62	T	C	7: 5,678,952 (GRCm39)	I211T	probably damaging	Het
Zdhhc17	A	G	10: 110,783,165 (GRCm39)	V501A	probably benign	Het
Zfp563	A	G	17: 33,324,428 (GRCm39)	E341G	probably benign	Het

Other mutations in Caml

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02469:Caml	APN	13	55,776,390 (GRCm39)	missense	probably damaging	1.00
IGL02961:Caml	APN	13	55,779,695 (GRCm39)	missense	probably benign	0.08
H8786:Caml	UTSW	13	55,776,409 (GRCm39)	missense	probably damaging	1.00
R0542:Caml	UTSW	13	55,770,974 (GRCm39)	missense	possibly damaging	0.94
R0673:Caml	UTSW	13	55,779,641 (GRCm39)	missense	probably damaging	1.00
R1106:Caml	UTSW	13	55,772,538 (GRCm39)	missense	probably benign	0.01
R1171:Caml	UTSW	13	55,772,820 (GRCm39)	missense	probably damaging	1.00
R1661:Caml	UTSW	13	55,779,784 (GRCm39)	missense	probably benign	0.12
R1665:Caml	UTSW	13	55,779,784 (GRCm39)	missense	probably benign	0.12
R4613:Caml	UTSW	13	55,772,955 (GRCm39)	missense	probably damaging	0.99
R4774:Caml	UTSW	13	55,779,740 (GRCm39)	missense	possibly damaging	0.96
R5945:Caml	UTSW	13	55,776,445 (GRCm39)	missense	probably damaging	1.00
R6247:Caml	UTSW	13	55,772,986 (GRCm39)	critical splice donor site	probably null
R6433:Caml	UTSW	13	55,771,062 (GRCm39)	missense	possibly damaging	0.94
R7973:Caml	UTSW	13	55,779,784 (GRCm39)	missense	probably benign	0.03
R9660:Caml	UTSW	13	55,779,670 (GRCm39)	missense	possibly damaging	0.94
R9728:Caml	UTSW	13	55,779,670 (GRCm39)	missense	possibly damaging	0.94

Predicted Primers

PCR Primer
(F):5'- CTTAGAGGGCGGGATTACAGTG -3'
(R):5'- ATATGGGTCGTCACCTAGGGAG -3'

Sequencing Primer
(F):5'- AGTGGGAGCGAACTCTGC -3'
(R):5'- AGCGGTGACAGAGTTCGGTC -3'

Posted On

2022-04-18