Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL00835:Crispld2'

12550

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 #

IGL00835

Quality Score

Status

Chromosome

Chromosomal Location

119992438-120052793 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 120010648 bp

Zygosity

Heterozygous

Amino Acid Change

Arginine to Histidine at position 46 (R46H)

Ref Sequence

ENSEMBL: ENSMUSP00000122962 (fasta)

Gene Model

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000034282
AA Change: R46H

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

SMART Domains

Protein: ENSMUSP00000034282
Gene: ENSMUSG00000031825
AA Change: R46H

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: R46H

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

SMART Domains

Protein: ENSMUSP00000104600
Gene: ENSMUSG00000031825
AA Change: R46H

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: R46H

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

SMART Domains

Protein: ENSMUSP00000122962
Gene: ENSMUSG00000031825
AA Change: R46H

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: ENSMUST00000151629

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: 43 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca12	T	C	1: 71,302,733	D1023G	probably damaging	Het
Agbl3	A	G	6: 34,799,732	D391G	probably damaging	Het
Aggf1	C	A	13: 95,362,477	V450F	probably damaging	Het
Alms1	A	G	6: 85,622,134	Y1314C	probably damaging	Het
Arfgef3	A	G	10: 18,661,358	F192L	probably benign	Het
Arnt	A	G	3: 95,490,340	D541G	probably damaging	Het
AU040320	A	G	4: 126,757,071		probably null	Het
Cep290	A	T	10: 100,563,380	R2255*	probably null	Het
Creb3l4	T	A	3: 90,241,987	H138L	possibly damaging	Het
Crlf3	T	C	11: 80,047,675	T379A	probably benign	Het
Ctsb	T	A	14: 63,135,650	D85E	probably damaging	Het
Etv2	A	T	7: 30,633,667	D325E	probably benign	Het
Fggy	T	A	4: 95,837,628	I335N	possibly damaging	Het
Fkbp1b	C	T	12: 4,833,726	G90S	probably damaging	Het
Glra3	A	G	8: 55,940,977		probably benign	Het
Gpatch8	C	A	11: 102,478,549	A1388S	probably damaging	Het
Grin2b	T	A	6: 135,733,570	S993C	probably damaging	Het
Gsg1	A	T	6: 135,244,092	M103K	possibly damaging	Het
Il12rb2	A	T	6: 67,360,567	V110D	probably damaging	Het
Kat8	A	G	7: 127,920,504	D174G	probably damaging	Het
Krt82	A	T	15: 101,543,378	I334N	probably damaging	Het
Lrrfip1	C	T	1: 91,115,418	T515I	possibly damaging	Het
Lrrtm2	T	A	18: 35,214,239	L3F	probably benign	Het
Man1c1	T	A	4: 134,564,532	Q575L	probably damaging	Het
Panx1	A	G	9: 15,007,844	S240P	probably damaging	Het
Phldb2	G	A	16: 45,751,456	T1191I	probably damaging	Het
Plb1	G	A	5: 32,364,172	E1456K	unknown	Het
Prtn3	A	G	10: 79,881,052	T84A	probably benign	Het
R3hdm1	T	C	1: 128,235,632		probably benign	Het
Sirpa	G	A	2: 129,609,183	C121Y	probably damaging	Het
Slc9a3	C	A	13: 74,160,302	H475N	probably benign	Het
Smgc	A	T	15: 91,844,420	D121V	probably damaging	Het
Spata16	A	T	3: 26,924,262	E459V	probably damaging	Het
Sult2a4	T	A	7: 13,909,789	E284D	probably benign	Het
Tbc1d32	A	G	10: 56,089,846		probably benign	Het
Thsd7a	A	C	6: 12,554,934	V317G	probably damaging	Het
Trh	T	C	6: 92,242,789	E182G	probably benign	Het
Tsc1	A	G	2: 28,672,466	D368G	possibly damaging	Het
Ttc39d	T	G	17: 80,216,526	C205G	probably damaging	Het
Unc79	T	G	12: 103,141,890		probably benign	Het
Vps13d	A	T	4: 145,160,652	D724E	probably damaging	Het
Zc3h14	T	A	12: 98,747,524		probably null	Het
Zfp507	G	T	7: 35,776,038	H917N	probably damaging	Het

Other mutations in Crispld2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00430:Crispld2	APN	8	120033560	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

Posted On

2012-12-06