Mutagenetix > Incidental Mutations

Incidental Mutation 'R6485:Crispld2'

517302

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

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R6485 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

119992438-120052793 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 120029309 bp

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 339 (D339G)

Ref Sequence

ENSEMBL: ENSMUSP00000122962 (fasta)

Gene Model

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000034282
AA Change: D340G

PolyPhen 2 Score 0.946 (Sensitivity: 0.80; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000034282
Gene: ENSMUSG00000031825
AA Change: D340G

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: D339G

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000104600
Gene: ENSMUSG00000031825
AA Change: D339G

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: D339G

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000122962
Gene: ENSMUSG00000031825
AA Change: D339G

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

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 97.7%
20x: 93.1%

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: 39 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca16	C	A	7: 120,427,167	Y117*	probably null	Het
Acot5	A	T	12: 84,075,484	R281W	probably damaging	Het
Adamts20	T	C	15: 94,343,971	T719A	probably benign	Het
Arhgap33	T	C	7: 30,524,004	T867A	probably benign	Het
Bcl2a1c	T	C	9: 114,330,210	Y19H	probably benign	Het
Bod1l	A	G	5: 41,817,116	I2285T	possibly damaging	Het
Cacna2d1	A	G	5: 16,354,657	Y755C	probably damaging	Het
Cdc27	T	C	11: 104,505,648	T816A	probably benign	Het
Clasrp	C	A	7: 19,586,369		probably benign	Het
Col6a4	A	G	9: 106,076,870		probably null	Het
Cpd	T	C	11: 76,808,707		probably null	Het
Dst	A	G	1: 34,294,529	D7046G	probably damaging	Het
Erbin	G	T	13: 103,868,113	Q136K	probably damaging	Het
Exph5	G	A	9: 53,376,691	E1691K	possibly damaging	Het
Fads6	A	G	11: 115,285,438	F187S	probably benign	Het
Foxg1	A	T	12: 49,385,080	I199F	probably damaging	Het
Garem1	T	C	18: 21,129,837	D640G	probably benign	Het
Gba2	A	C	4: 43,574,118	Y112D	probably damaging	Het
Gcfc2	T	C	6: 81,939,547	I323T	probably damaging	Het
Gm11595	G	A	11: 99,772,555	R100C	unknown	Het
Gria4	T	A	9: 4,464,249	Y571F	probably damaging	Het
Large2	T	C	2: 92,366,028	T485A	probably benign	Het
Lonrf1	A	G	8: 36,229,134		probably null	Het
Mrgprb5	T	C	7: 48,168,777	N70S	probably damaging	Het
Muc2	T	A	7: 141,746,736		probably benign	Het
Nol4	T	C	18: 22,770,793	D375G	probably damaging	Het
Olfr1359	A	G	13: 21,703,430	Q143R	probably benign	Het
Pcnt	G	T	10: 76,389,330	S1780*	probably null	Het
Pdgfra	A	T	5: 75,175,074		probably null	Het
Pgd	A	T	4: 149,156,419		probably null	Het
Pla2g6	T	C	15: 79,307,372	I279V	probably benign	Het
Ptpn21	A	T	12: 98,698,872	C297*	probably null	Het
Ripply1	TTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCT	TTCCTCCTCCTCCTCCTCCTCCTCCTCCT	X: 139,779,850		probably benign	Het
Rtcb	T	C	10: 85,957,644	I22V	probably benign	Het
Slc25a30	G	T	14: 75,775,007	A67E	probably damaging	Het
Stk11ip	T	C	1: 75,529,968	V605A	possibly damaging	Het
Ush1c	A	T	7: 46,209,110	S585T	probably benign	Het
Vps13a	T	C	19: 16,680,050	D1785G	probably damaging	Het
Zic5	T	A	14: 122,459,640	Y521F	unknown	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
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
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'- ATAGCGGGGAATGGTCGGT -3'
(R):5'- CCACTTCTACAATAAGAAAACAGTGAT -3'

Sequencing Primer
(F):5'- GAATGGTCGGTGGGCTG -3'
(R):5'- TCCCAGCAATCATATGGGTG -3'

Posted On

2018-05-21