Mutagenetix > Incidental Mutations

Incidental Mutation 'R1715:Crispld2'

190939

Institutional Source

Beutler Lab

Gene Symbol

Crispld2

Ensembl Gene

ENSMUSG00000031825

Gene Name

cysteine-rich secretory protein LCCL domain containing 2

Synonyms

1810049K24Rik, Lgl1, coffeecrisp

MMRRC Submission

039748-MU

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R1715 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

119992438-120052793 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 120023649 bp

Zygosity

Heterozygous

Amino Acid Change

Tryptophan to Leucine at position 264 (W264L)

Ref Sequence

ENSEMBL: ENSMUSP00000122962 (fasta)

Gene Model

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

Predicted Effect

probably benign
Transcript: ENSMUST00000034282
AA Change: W265L

PolyPhen 2 Score 0.262 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000034282
Gene: ENSMUSG00000031825
AA Change: W265L

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

possibly damaging
Transcript: ENSMUST00000108972
AA Change: W264L

PolyPhen 2 Score 0.748 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000104600
Gene: ENSMUSG00000031825
AA Change: W264L

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

possibly damaging
Transcript: ENSMUST00000132583
AA Change: W264L

PolyPhen 2 Score 0.748 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000122962
Gene: ENSMUSG00000031825
AA Change: W264L

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

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.8%
20x: 94.1%

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: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700023F06Rik	T	C	11: 103,199,824		probably null	Het
2210010C04Rik	A	G	6: 41,032,936		probably null	Het
2410089E03Rik	T	A	15: 8,226,900		probably null	Het
Abca8a	G	A	11: 110,091,580	T12M	probably damaging	Het
Alms1	T	A	6: 85,629,052	Y2561*	probably null	Het
Atp10a	G	A	7: 58,786,505	V348I	probably damaging	Het
Best2	T	C	8: 85,011,223	Y181C	probably benign	Het
Btaf1	T	A	19: 36,969,121	D442E	probably damaging	Het
C330027C09Rik	C	T	16: 49,005,719	T383I	probably benign	Het
Carmil3	T	G	14: 55,504,532	V1153G	probably benign	Het
Cc2d2a	A	G	5: 43,718,661	I993M	probably damaging	Het
Ccng1	G	A	11: 40,752,114	P169S	probably benign	Het
Cmtr2	T	C	8: 110,222,798	L580P	probably damaging	Het
Col22a1	T	C	15: 72,006,981	E109G	possibly damaging	Het
Cyp2c38	T	C	19: 39,404,795	H276R	probably benign	Het
Dag1	A	T	9: 108,208,715	V409E	possibly damaging	Het
Emc8	T	C	8: 120,658,555	N146S	probably benign	Het
Glt8d1	T	C	14: 31,011,521	V321A	possibly damaging	Het
Gm5174	C	T	10: 86,656,912		noncoding transcript	Het
Hdac10	G	T	15: 89,126,709		probably null	Het
Hectd4	A	G	5: 121,344,818	D3144G	possibly damaging	Het
Ifna11	C	T	4: 88,820,236	S93L	probably damaging	Het
Il16	T	C	7: 83,648,728	N431S	probably benign	Het
Irf8	A	T	8: 120,754,388	E237V	probably damaging	Het
Lrp1b	A	G	2: 41,185,981	Y1769H	probably damaging	Het
Lrrc9	A	G	12: 72,477,299	N761D	probably damaging	Het
Mbtps1	T	C	8: 119,542,730	Y207C	probably benign	Het
Myo9a	A	G	9: 59,832,300	E765G	probably damaging	Het
Nlrp3	A	G	11: 59,543,351	D80G	probably damaging	Het
Olfr361	G	A	2: 37,085,176	P191S	probably damaging	Het
Olfr697	G	C	7: 106,741,548	P129A	probably damaging	Het
Olfr830	A	T	9: 18,875,794	I156F	probably benign	Het
Pcyt2	T	A	11: 120,615,851		probably null	Het
Plxnd1	T	C	6: 115,968,681	T944A	probably benign	Het
Psd4	A	T	2: 24,405,332	I833F	probably damaging	Het
Psmd7	A	G	8: 107,581,185	I222T	probably benign	Het
Rap2b	A	G	3: 61,365,190	E45G	probably damaging	Het
Rbm22	T	C	18: 60,560,844	S7P	possibly damaging	Het
Rbpms2	ACTGCTGCTGCTGCTGC	ACTGCTGCTGCTGCTGCTGC	9: 65,651,666		probably benign	Het
Rfx4	A	G	10: 84,844,280	N107S	probably damaging	Het
Ripk2	T	A	4: 16,155,192		probably null	Het
Rpgrip1	T	A	14: 52,140,691	C499S	possibly damaging	Het
Scarf1	T	C	11: 75,524,044	S515P	probably damaging	Het
Sgip1	T	C	4: 102,915,059	V215A	probably benign	Het
Sis	T	C	3: 72,889,010	I1813V	possibly damaging	Het
Slc17a3	A	T	13: 23,856,741	T317S	probably benign	Het
Slc35e1	T	C	8: 72,483,977	N340S	probably benign	Het
Smg6	A	G	11: 74,929,430	I176V	probably benign	Het
Smim17	T	C	7: 6,429,326	L89S	probably damaging	Het
Synm	T	C	7: 67,736,303	N95S	probably damaging	Het
Tdrd9	A	G	12: 112,036,439	K841E	possibly damaging	Het
Tep1	G	T	14: 50,854,567	F570L	possibly damaging	Het
Tgm3	G	A	2: 130,026,814		probably null	Het
Tra2b	T	C	16: 22,252,746	Y128C	possibly damaging	Het
Vmn2r17	T	C	5: 109,428,244	V327A	probably benign	Het
Wdr20rt	A	T	12: 65,227,314	D344V	probably damaging	Het
Zfp940	A	G	7: 29,844,938	C515R	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
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
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

Predicted Primers

PCR Primer
(F):5'- TTGTGAAGCCAAATCGCAAACGAG -3'
(R):5'- TGTCTCTATCGCCAGGATACCCAG -3'

Sequencing Primer
(F):5'- ggaatgtgggaggcagag -3'
(R):5'- AGGATACCCAGCTCTGGTTC -3'

Posted On

2014-05-14