Mutagenetix > Incidental Mutation

Incidental Mutation 'R3774:Crispld2'

273510

Institutional Source

Beutler Lab

Gene Symbol

Crispld2

Ensembl Gene

ENSMUSG00000031825

Gene Name

cysteine-rich secretory protein LCCL domain containing 2

Synonyms

coffeecrisp, Lgl1, 1810049K24Rik

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R3774 (G1)

Quality Score

208

Status

Not validated

Chromosome

Chromosomal Location

120719177-120779532 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 120756005 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 325 (S325P)

Ref Sequence

ENSEMBL: ENSMUSP00000122962 (fasta)

Gene Model

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

AlphaFold

Q8BZQ2

Predicted Effect

probably damaging
Transcript: ENSMUST00000034282
AA Change: S326P

PolyPhen 2 Score 0.970 (Sensitivity: 0.77; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000034282
Gene: ENSMUSG00000031825
AA Change: S326P

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: S325P

PolyPhen 2 Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000104600
Gene: ENSMUSG00000031825
AA Change: S325P

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: S325P

PolyPhen 2 Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000122962
Gene: ENSMUSG00000031825
AA Change: S325P

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: 99.2%
3x: 98.7%
10x: 97.4%
20x: 95.3%

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: 45 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acadm	A	G	3: 153,638,734 (GRCm39)	V213A	probably benign	Het
Ccndbp1	A	G	2: 120,839,581 (GRCm39)	K26R	possibly damaging	Het
Chrna10	T	C	7: 101,763,535 (GRCm39)	T87A	probably benign	Het
Col27a1	T	A	4: 63,232,963 (GRCm39)	N360K	probably benign	Het
Dgkd	T	A	1: 87,864,022 (GRCm39)	I79N	probably damaging	Het
Dhdh	T	A	7: 45,131,362 (GRCm39)	D157V	probably benign	Het
Dnajc15	A	T	14: 78,094,377 (GRCm39)		probably null	Het
Fbxo44	G	T	4: 148,241,051 (GRCm39)	F179L	probably damaging	Het
Gm5565	T	A	5: 146,095,419 (GRCm39)	E192V	probably benign	Het
Gpat4	G	A	8: 23,670,171 (GRCm39)	P286L	probably damaging	Het
Itgav	A	G	2: 83,622,308 (GRCm39)	E630G	probably damaging	Het
Iws1	T	C	18: 32,213,048 (GRCm39)	S159P	probably damaging	Het
Kif23	G	A	9: 61,832,274 (GRCm39)	S623L	probably benign	Het
Krt32	A	G	11: 99,978,947 (GRCm39)	C36R	probably benign	Het
Med12l	A	C	3: 59,155,363 (GRCm39)	Q1181P	probably damaging	Het
Megf10	G	A	18: 57,410,177 (GRCm39)	G653S	probably damaging	Het
Mon1a	A	G	9: 107,778,502 (GRCm39)	Y242C	probably damaging	Het
Msh6	G	T	17: 88,293,609 (GRCm39)	R788L	probably damaging	Het
Mttp	T	C	3: 137,820,024 (GRCm39)		probably null	Het
Mxi1	C	A	19: 53,360,160 (GRCm39)	A294E	probably benign	Het
Olfm5	T	A	7: 103,811,056 (GRCm39)	R27S	possibly damaging	Het
Or52n2b	T	A	7: 104,566,113 (GRCm39)	Y130F	probably benign	Het
Palmd	T	C	3: 116,721,312 (GRCm39)	E81G	probably damaging	Het
Pecr	A	G	1: 72,298,530 (GRCm39)	F297L	probably benign	Het
Phf11b	A	G	14: 59,563,506 (GRCm39)	L137S	probably benign	Het
Phlpp1	GAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC	GAGCAGCAGCAGCAGCAGCAGCAGCAGC	1: 106,320,921 (GRCm39)		probably benign	Het
Plcb4	A	G	2: 135,800,065 (GRCm39)	K472E	probably benign	Het
Pomgnt1	G	A	4: 116,011,325 (GRCm39)	R230H	probably damaging	Het
Pomt1	A	G	2: 32,134,262 (GRCm39)	H261R	possibly damaging	Het
Ppm1d	T	C	11: 85,227,993 (GRCm39)	I303T	probably damaging	Het
Ptprc	T	G	1: 137,992,511 (GRCm39)	Q1205H	probably damaging	Het
Rad23b	C	T	4: 55,382,589 (GRCm39)	T264I	possibly damaging	Het
Rfc1	T	C	5: 65,421,749 (GRCm39)	Y1050C	probably damaging	Het
Septin8	T	C	11: 53,428,406 (GRCm39)	V352A	probably damaging	Het
Slc25a13	T	A	6: 6,109,288 (GRCm39)	Q358L	probably damaging	Het
Ssh1	T	C	5: 114,104,783 (GRCm39)	D12G	probably damaging	Het
Tmem59l	A	G	8: 70,939,951 (GRCm39)	L6S	unknown	Het
Tnik	T	C	3: 28,692,568 (GRCm39)	Y820H	probably damaging	Het
Trpm3	T	C	19: 22,955,966 (GRCm39)	F1143L	possibly damaging	Het
Trpm3	T	A	19: 22,965,339 (GRCm39)	S1611R	probably benign	Het
Ttyh3	A	G	5: 140,634,489 (GRCm39)	F32L	probably damaging	Het
Unkl	T	A	17: 25,407,381 (GRCm39)		probably null	Het
Vwf	T	A	6: 125,626,062 (GRCm39)		probably null	Het
Wdr11	T	A	7: 129,233,417 (GRCm39)		probably null	Het
Yeats2	A	G	16: 19,969,245 (GRCm39)	D12G	probably damaging	Het

Other mutations in Crispld2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00430:Crispld2	APN	8	120,760,299 (GRCm39)	missense	probably damaging	1.00
IGL00835:Crispld2	APN	8	120,737,387 (GRCm39)	missense	probably damaging	1.00
IGL03209:Crispld2	APN	8	120,757,837 (GRCm39)	missense	possibly damaging	0.88
IGL03324:Crispld2	APN	8	120,742,110 (GRCm39)	missense	probably damaging	1.00
R0172:Crispld2	UTSW	8	120,752,810 (GRCm39)	missense	possibly damaging	0.80
R0212:Crispld2	UTSW	8	120,737,370 (GRCm39)	missense	probably benign
R0492:Crispld2	UTSW	8	120,752,806 (GRCm39)	missense	probably benign	0.30
R1532:Crispld2	UTSW	8	120,750,311 (GRCm39)	missense	probably benign
R1715:Crispld2	UTSW	8	120,750,388 (GRCm39)	missense	possibly damaging	0.75
R1865:Crispld2	UTSW	8	120,737,306 (GRCm39)	missense	probably benign	0.00
R1953:Crispld2	UTSW	8	120,742,035 (GRCm39)	missense	probably damaging	1.00
R2161:Crispld2	UTSW	8	120,742,078 (GRCm39)	missense	probably damaging	1.00
R2306:Crispld2	UTSW	8	120,752,810 (GRCm39)	missense	probably damaging	0.99
R2851:Crispld2	UTSW	8	120,740,828 (GRCm39)	missense	probably damaging	1.00
R3776:Crispld2	UTSW	8	120,756,005 (GRCm39)	missense	probably damaging	0.99
R6044:Crispld2	UTSW	8	120,737,410 (GRCm39)	missense	possibly damaging	0.66
R6485:Crispld2	UTSW	8	120,756,048 (GRCm39)	missense	probably damaging	0.99
R6861:Crispld2	UTSW	8	120,752,852 (GRCm39)	missense	probably damaging	1.00
R7792:Crispld2	UTSW	8	120,757,809 (GRCm39)	missense	probably benign	0.01
R8814:Crispld2	UTSW	8	120,742,084 (GRCm39)	missense	possibly damaging	0.89
R9129:Crispld2	UTSW	8	120,737,488 (GRCm39)	missense	possibly damaging	0.78
R9665:Crispld2	UTSW	8	120,760,316 (GRCm39)	missense	probably benign	0.00

Predicted Primers

Posted On

2015-03-25