Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00430:Crispld2'

4956

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Crispld2

Ensembl Gene

ENSMUSG00000031825

Gene Name

cysteine-rich secretory protein LCCL domain containing 2

Synonyms

1810049K24Rik, Lgl1, coffeecrisp

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL00430

Quality Score

Status

Chromosome

Chromosomal Location

119992438-120052793 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 120033560 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Serine at position 408 (R408S)

Ref Sequence

ENSEMBL: ENSMUSP00000034282 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000034282] [ENSMUST00000108972] [ENSMUST00000127664] [ENSMUST00000132583]

AlphaFold

Q8BZQ2

Predicted Effect

probably damaging
Transcript: ENSMUST00000034282
AA Change: R408S

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

SMART Domains

Protein: ENSMUSP00000034282
Gene: ENSMUSG00000031825
AA Change: R408S

Domain	Start	End	E-Value	Type
signal peptide	1	22	N/A	INTRINSIC
SCP	54	208	1.2e-48	SMART
LCCL	284	368	1.25e-45	SMART
LCCL	385	477	1.28e-51	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000108972
AA Change: R407S

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

SMART Domains

Protein: ENSMUSP00000104600
Gene: ENSMUSG00000031825
AA Change: R407S

Domain	Start	End	E-Value	Type
signal peptide	1	22	N/A	INTRINSIC
SCP	54	208	1.2e-48	SMART
LCCL	283	367	1.25e-45	SMART
LCCL	384	476	1.28e-51	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000127664

SMART Domains

Protein: ENSMUSP00000118564
Gene: ENSMUSG00000092329

Domain	Start	End	E-Value	Type
Pfam:Glycos_transf_2	104	287	7.4e-31	PFAM
Pfam:Glyco_transf_7C	261	331	4.9e-8	PFAM
RICIN	406	531	9.28e-27	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000132583
AA Change: R407S

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

SMART Domains

Protein: ENSMUSP00000122962
Gene: ENSMUSG00000031825
AA Change: R407S

Domain	Start	End	E-Value	Type
signal peptide	1	22	N/A	INTRINSIC
SCP	54	208	1.2e-48	SMART
LCCL	283	367	1.25e-45	SMART
LCCL	384	476	1.28e-51	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000144801

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000160605

Coding Region Coverage

Validation Efficiency

MGI Phenotype

PHENOTYPE: Homozygous mutant mice show various immunological abnormalities, enhanced glucose tolerance and decreased bone-related measurements. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 34 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc2	G	A	19: 43,784,202	S17N	probably benign	Het
Atp2a1	C	T	7: 126,447,216	W72*	probably null	Het
Baz2b	C	A	2: 59,912,795	A1611S	probably benign	Het
Cep290	A	T	10: 100,508,724	I475L	probably benign	Het
Cpsf4l	C	T	11: 113,709,218		probably benign	Het
Cyp3a25	A	T	5: 145,993,360	M145K	probably damaging	Het
Dexi	A	T	16: 10,542,445	D82E	probably benign	Het
Epyc	A	T	10: 97,681,147	K282N	probably benign	Het
Ercc6l2	G	T	13: 63,858,319	V588F	probably damaging	Het
Galnt14	C	T	17: 73,494,232	V532I	probably damaging	Het
Grk1	C	A	8: 13,413,128	Y383*	probably null	Het
Gtpbp1	G	T	15: 79,719,136	G609W	possibly damaging	Het
Hadha	C	T	5: 30,120,147	V682M	possibly damaging	Het
Igdcc3	A	C	9: 65,182,019	D499A	probably damaging	Het
Kcna10	T	G	3: 107,194,728	V225G	probably damaging	Het
Kcnh4	T	C	11: 100,757,654	T75A	possibly damaging	Het
Lama4	A	G	10: 39,045,704	E407G	possibly damaging	Het
Mrpl13	T	A	15: 55,540,201	K105N	probably damaging	Het
Pcdhb2	A	T	18: 37,296,463		probably null	Het
Pck2	C	T	14: 55,543,944	A209V	probably benign	Het
Plce1	A	G	19: 38,725,017	E1243G	probably damaging	Het
Plekhh2	A	T	17: 84,521,775	M25L	probably benign	Het
Rasef	G	A	4: 73,771,425	Q117*	probably null	Het
Rbm14	A	G	19: 4,811,426	V28A	probably damaging	Het
Rcan2	A	G	17: 43,836,384	T38A	probably benign	Het
Rin1	A	G	19: 5,051,376	N96S	probably benign	Het
Rrp12	A	G	19: 41,877,334		probably null	Het
Slco1a6	A	T	6: 142,101,651	C404*	probably null	Het
St6galnac3	T	C	3: 153,509,403	N38S	probably benign	Het
Top2b	T	A	14: 16,422,692	S1376R	probably benign	Het
Trip11	T	C	12: 101,886,147	I553V	probably benign	Het
Trip12	T	G	1: 84,763,861	H559P	probably damaging	Het
Uggt2	A	T	14: 119,026,429	L1063*	probably null	Het
Zmym6	T	A	4: 127,101,949	C269*	probably null	Het

Other mutations in Crispld2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00835:Crispld2	APN	8	120010648	missense	probably damaging	1.00
IGL03209:Crispld2	APN	8	120031098	missense	possibly damaging	0.88
IGL03324:Crispld2	APN	8	120015371	missense	probably damaging	1.00
R0172:Crispld2	UTSW	8	120026071	missense	possibly damaging	0.80
R0212:Crispld2	UTSW	8	120010631	missense	probably benign
R0492:Crispld2	UTSW	8	120026067	missense	probably benign	0.30
R1532:Crispld2	UTSW	8	120023572	missense	probably benign
R1715:Crispld2	UTSW	8	120023649	missense	possibly damaging	0.75
R1865:Crispld2	UTSW	8	120010567	missense	probably benign	0.00
R1953:Crispld2	UTSW	8	120015296	missense	probably damaging	1.00
R2161:Crispld2	UTSW	8	120015339	missense	probably damaging	1.00
R2306:Crispld2	UTSW	8	120026071	missense	probably damaging	0.99
R2851:Crispld2	UTSW	8	120014089	missense	probably damaging	1.00
R3774:Crispld2	UTSW	8	120029266	missense	probably damaging	0.99
R3776:Crispld2	UTSW	8	120029266	missense	probably damaging	0.99
R6044:Crispld2	UTSW	8	120010671	missense	possibly damaging	0.66
R6485:Crispld2	UTSW	8	120029309	missense	probably damaging	0.99
R6861:Crispld2	UTSW	8	120026113	missense	probably damaging	1.00
R7792:Crispld2	UTSW	8	120031070	missense	probably benign	0.01
R8814:Crispld2	UTSW	8	120015345	missense	possibly damaging	0.89
R9129:Crispld2	UTSW	8	120010749	missense	possibly damaging	0.78

Posted On

2012-04-20