Mutagenetix > Incidental Mutation

Incidental Mutation 'R1457:Creld2'

158609

Institutional Source

Beutler Lab

Gene Symbol

Creld2

Ensembl Gene

ENSMUSG00000023272

Gene Name

cysteine-rich with EGF-like domains 2

Synonyms

5730592L21Rik

MMRRC Submission

039512-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1457 (G1)

Quality Score

117

Status

Not validated

Chromosome

Chromosomal Location

88703849-88710884 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 88707956 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Arginine at position 232 (C232R)

Ref Sequence

ENSEMBL: ENSMUSP00000024042 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000024042] [ENSMUST00000043087] [ENSMUST00000159328] [ENSMUST00000162183]

AlphaFold

Q9CYA0

Predicted Effect

probably damaging
Transcript: ENSMUST00000024042
AA Change: C232R

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000024042
Gene: ENSMUSG00000023272
AA Change: C232R

Domain	Start	End	E-Value	Type
signal peptide	1	22	N/A	INTRINSIC
Pfam:DUF3456	28	86	1.3e-7	PFAM
low complexity region	90	100	N/A	INTRINSIC
EGF	137	176	3.76e-1	SMART
FU	191	238	1.2e-7	SMART
EGF_like	228	273	1.76e-3	SMART
FU	251	298	5.08e-6	SMART
EGF_CA	288	329	3.17e-8	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000043087

SMART Domains

Protein: ENSMUSP00000043480
Gene: ENSMUSG00000035845

Domain	Start	End	E-Value	Type
Pfam:Glyco_transf_22	15	267	4e-15	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000159328

SMART Domains

Protein: ENSMUSP00000125534
Gene: ENSMUSG00000035845

Domain	Start	End	E-Value	Type
Pfam:Glyco_transf_22	15	169	6e-16	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000162183

SMART Domains

Protein: ENSMUSP00000123935
Gene: ENSMUSG00000035845

Domain	Start	End	E-Value	Type
Pfam:Glyco_transf_22	15	406	3.3e-44	PFAM

Meta Mutation Damage Score

0.9736

Coding Region Coverage

1x: 98.9%
3x: 97.8%
10x: 94.7%
20x: 87.3%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 77 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca14	A	T	7: 119,888,683 (GRCm39)	I1210F	probably benign	Het
Ankrd17	T	C	5: 90,433,705 (GRCm39)	H688R	possibly damaging	Het
Arhgap24	T	A	5: 102,811,972 (GRCm39)	N66K	probably damaging	Het
Atp1a1	C	T	3: 101,497,782 (GRCm39)	G335D	probably damaging	Het
Cacna1g	C	T	11: 94,350,381 (GRCm39)	R488H	possibly damaging	Het
Cacna1h	A	T	17: 25,616,594 (GRCm39)	V149E	probably damaging	Het
Cd22	G	T	7: 30,572,595 (GRCm39)	P338Q	probably benign	Het
Cntln	G	T	4: 85,015,076 (GRCm39)	M1122I	probably benign	Het
Cntrl	A	G	2: 35,012,768 (GRCm39)	N302S	probably benign	Het
Cog8	T	C	8: 107,779,528 (GRCm39)	R250G	probably damaging	Het
Cracdl	A	T	1: 37,665,093 (GRCm39)	Y268*	probably null	Het
Cyp2b23	G	A	7: 26,372,574 (GRCm39)	P347L	probably damaging	Het
Dnah5	T	C	15: 28,403,688 (GRCm39)		probably null	Het
Eml6	C	T	11: 29,974,459 (GRCm39)	V40I	probably damaging	Het
Epb42	C	T	2: 120,860,448 (GRCm39)		probably null	Het
Fcrla	A	G	1: 170,748,573 (GRCm39)	L190P	probably damaging	Het
Galnt18	A	T	7: 111,378,635 (GRCm39)	Y40*	probably null	Het
Gdf7	A	T	12: 8,348,073 (GRCm39)	M416K	probably damaging	Het
Gm11232	T	A	4: 71,675,156 (GRCm39)		probably null	Het
Gpam	T	A	19: 55,076,608 (GRCm39)	N198Y	probably damaging	Het
Grip1	C	T	10: 119,822,255 (GRCm39)	S327F	possibly damaging	Het
Hey2	C	T	10: 30,710,352 (GRCm39)	A134T	probably benign	Het
Kat6a	T	C	8: 23,428,668 (GRCm39)	I1341T	probably benign	Het
Kcnd3	T	C	3: 105,575,502 (GRCm39)	L542P	probably benign	Het
Lars1	G	A	18: 42,343,115 (GRCm39)	R1101C	probably damaging	Het
Lman2	T	C	13: 55,499,064 (GRCm39)	D234G	probably benign	Het
Map3k19	A	C	1: 127,745,635 (GRCm39)	I1273R	probably damaging	Het
Matn1	T	A	4: 130,677,330 (GRCm39)	F180I	possibly damaging	Het
Meikin	T	A	11: 54,261,767 (GRCm39)	L61*	probably null	Het
Mroh2b	G	T	15: 4,955,166 (GRCm39)	D720Y	probably damaging	Het
Myh13	T	C	11: 67,221,872 (GRCm39)	I199T	probably damaging	Het
Myh4	T	A	11: 67,139,287 (GRCm39)	S535T	probably damaging	Het
Myo5a	T	C	9: 75,120,347 (GRCm39)	M1715T	probably damaging	Het
Nat8	A	T	6: 85,807,971 (GRCm39)	V54D	probably damaging	Het
Nbea	A	G	3: 55,992,748 (GRCm39)	V286A	probably damaging	Het
Ndnf	A	G	6: 65,680,998 (GRCm39)	K426E	possibly damaging	Het
Nup210l	T	A	3: 90,098,279 (GRCm39)	N1410K	possibly damaging	Het
Oca2	A	T	7: 55,971,269 (GRCm39)	T399S	probably damaging	Het
Or10al2	A	T	17: 37,983,816 (GRCm39)	K301*	probably null	Het
Or1af1	A	C	2: 37,109,671 (GRCm39)	T57P	possibly damaging	Het
Or51a43	A	T	7: 103,717,666 (GRCm39)	C191S	probably damaging	Het
Or52h7	T	A	7: 104,214,278 (GRCm39)	N283K	probably damaging	Het
Or8c10	G	A	9: 38,279,492 (GRCm39)	V217I	probably benign	Het
Or8j3	A	G	2: 86,028,596 (GRCm39)	S167P	probably damaging	Het
Otogl	A	C	10: 107,714,013 (GRCm39)		probably null	Het
Pde4b	C	T	4: 102,462,373 (GRCm39)	T511I	probably damaging	Het
Proser3	A	G	7: 30,239,172 (GRCm39)		probably null	Het
Psmd12	G	A	11: 107,370,472 (GRCm39)	V24M	probably damaging	Het
Rbm17	A	T	2: 11,598,272 (GRCm39)	M170K	probably benign	Het
Rims2	C	T	15: 39,374,710 (GRCm39)	T1064I	possibly damaging	Het
Ripor3	C	T	2: 167,834,573 (GRCm39)	V281M	probably damaging	Het
Rreb1	C	A	13: 38,130,904 (GRCm39)	Q1353K	possibly damaging	Het
Sgo2a	A	G	1: 58,054,965 (GRCm39)	D383G	probably benign	Het
Sik3	C	T	9: 46,132,446 (GRCm39)	T1346M	probably damaging	Het
Slx1b	A	T	7: 126,291,968 (GRCm39)	V63E	probably damaging	Het
Son	A	G	16: 91,453,974 (GRCm39)	D907G	probably damaging	Het
Src	G	A	2: 157,311,132 (GRCm39)	V401M	probably damaging	Het
St3gal4	T	C	9: 34,966,053 (GRCm39)	K24E	possibly damaging	Het
Stat6	A	G	10: 127,494,114 (GRCm39)	K647R	probably damaging	Het
Tbl1xr1	G	A	3: 22,247,333 (GRCm39)		probably null	Het
Tlk2	G	A	11: 105,147,778 (GRCm39)		probably null	Het
Tmbim6	T	A	15: 99,299,496 (GRCm39)	I3K	probably benign	Het
Tmeff2	A	T	1: 51,221,026 (GRCm39)	I334F	probably damaging	Het
Ttn	T	C	2: 76,670,659 (GRCm39)		probably null	Het
Ubl7	T	A	9: 57,821,894 (GRCm39)	I81N	probably damaging	Het
Ugt1a10	A	G	1: 87,983,433 (GRCm39)	Y77C	probably damaging	Het
Uqcrfs1	A	G	13: 30,724,890 (GRCm39)	C217R	probably damaging	Het
Usp50	T	C	2: 126,603,554 (GRCm39)	T331A	probably benign	Het
Vmn1r65	A	G	7: 6,012,156 (GRCm39)	V26A	probably benign	Het
Wdfy3	A	C	5: 102,065,445 (GRCm39)	V1241G	possibly damaging	Het
Wtap	A	C	17: 13,200,631 (GRCm39)		probably null	Het
Zbtb40	C	A	4: 136,712,148 (GRCm39)	A1187S	possibly damaging	Het
Zfp57	T	C	17: 37,316,990 (GRCm39)	S20P	probably damaging	Het
Zfp592	A	G	7: 80,674,227 (GRCm39)	D397G	probably damaging	Het
Zfp747	A	T	7: 126,973,676 (GRCm39)	S165T	probably benign	Het
Zfp949	C	T	9: 88,451,891 (GRCm39)	T487I	probably damaging	Het
Zscan4d	A	G	7: 10,898,921 (GRCm39)	C119R	probably damaging	Het

Other mutations in Creld2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R0510:Creld2	UTSW	15	88,704,159 (GRCm39)	missense	probably damaging	1.00
R1137:Creld2	UTSW	15	88,704,834 (GRCm39)	nonsense	probably null
R1163:Creld2	UTSW	15	88,704,834 (GRCm39)	nonsense	probably null
R1164:Creld2	UTSW	15	88,704,834 (GRCm39)	nonsense	probably null
R1206:Creld2	UTSW	15	88,704,834 (GRCm39)	nonsense	probably null
R1207:Creld2	UTSW	15	88,704,834 (GRCm39)	nonsense	probably null
R1207:Creld2	UTSW	15	88,704,834 (GRCm39)	nonsense	probably null
R1475:Creld2	UTSW	15	88,704,834 (GRCm39)	nonsense	probably null
R1915:Creld2	UTSW	15	88,704,834 (GRCm39)	nonsense	probably null
R2105:Creld2	UTSW	15	88,704,834 (GRCm39)	nonsense	probably null
R4297:Creld2	UTSW	15	88,707,956 (GRCm39)	missense	probably damaging	1.00
R5843:Creld2	UTSW	15	88,710,632 (GRCm39)	missense	probably damaging	1.00
R6066:Creld2	UTSW	15	88,707,969 (GRCm39)	missense	possibly damaging	0.95
R6402:Creld2	UTSW	15	88,707,344 (GRCm39)	missense	probably damaging	0.99
R6454:Creld2	UTSW	15	88,707,274 (GRCm39)	nonsense	probably null
R6543:Creld2	UTSW	15	88,709,481 (GRCm39)	missense	probably benign	0.00
R6808:Creld2	UTSW	15	88,709,413 (GRCm39)	missense	probably damaging	1.00
R6912:Creld2	UTSW	15	88,704,200 (GRCm39)	missense	probably damaging	1.00
R7342:Creld2	UTSW	15	88,710,610 (GRCm39)	missense	probably benign	0.03
R8058:Creld2	UTSW	15	88,710,632 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GCTTGGCCTTAGGCAAATTCAGAAC -3'
(R):5'- GCATCATATCCACCACTGATGTCGC -3'

Sequencing Primer
(F):5'- CTCAGCCAAGCTGGTCTAAAG -3'
(R):5'- ACTGATGTCGCCACTTTCAGG -3'

Posted On

2014-03-14