Mutagenetix > Incidental Mutation

Incidental Mutation 'R5843:Creld2'

450559

Institutional Source

Beutler Lab

Gene Symbol

Creld2

Ensembl Gene

ENSMUSG00000023272

Gene Name

cysteine-rich with EGF-like domains 2

Synonyms

5730592L21Rik

MMRRC Submission

043224-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5843 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

88703849-88710884 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 88710632 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Valine at position 349 (D349V)

Ref Sequence

ENSEMBL: ENSMUSP00000024042 (fasta)

Gene Model

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

AlphaFold

Q9CYA0

Predicted Effect

probably damaging
Transcript: ENSMUST00000024042
AA Change: D349V

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

SMART Domains

Protein: ENSMUSP00000024042
Gene: ENSMUSG00000023272
AA Change: D349V

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

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.7%
20x: 96.5%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 40 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Agap1	A	G	1: 89,537,272 (GRCm39)	T93A	probably damaging	Het
Atp6v1h	T	A	1: 5,232,312 (GRCm39)		probably null	Het
Ccnk	T	C	12: 108,159,989 (GRCm39)	V157A	probably damaging	Het
Cdh10	T	C	15: 18,985,286 (GRCm39)	F317L	possibly damaging	Het
Chn1	A	G	2: 73,510,092 (GRCm39)	I139T	probably benign	Het
Dnah3	TTCCTC	TTC	7: 119,550,244 (GRCm39)		probably benign	Het
Eml2	G	A	7: 18,935,088 (GRCm39)	V432I	probably damaging	Het
Frem1	T	C	4: 82,854,289 (GRCm39)	D1660G	probably damaging	Het
Hipk3	A	C	2: 104,270,569 (GRCm39)	S470R	possibly damaging	Het
Hook2	T	A	8: 85,717,912 (GRCm39)	I37K	probably damaging	Het
Hpcal1	T	C	12: 17,841,200 (GRCm39)	F193L	probably benign	Het
Hps4	T	C	5: 112,497,296 (GRCm39)		probably null	Het
Iqgap1	T	C	7: 80,375,828 (GRCm39)	N1349S	probably benign	Het
Khk	A	G	5: 31,079,275 (GRCm39)	I6V	possibly damaging	Het
Kmt2d	G	A	15: 98,749,990 (GRCm39)		probably benign	Het
Lrch3	T	C	16: 32,818,896 (GRCm39)	V629A	probably damaging	Het
Mtpn	C	T	6: 35,489,225 (GRCm39)	D100N	probably benign	Het
Muc13	A	G	16: 33,626,421 (GRCm39)	Y320C	probably damaging	Het
Or2aj4	T	A	16: 19,385,333 (GRCm39)	Q100L	probably damaging	Het
Or2y1b	A	T	11: 49,209,076 (GRCm39)	R234S	probably benign	Het
Or5ac21	T	A	16: 59,123,724 (GRCm39)	D69E	probably damaging	Het
Parpbp	A	G	10: 87,969,053 (GRCm39)	L131P	probably damaging	Het
Prl3a1	T	C	13: 27,454,093 (GRCm39)	W24R	probably damaging	Het
Ptprk	T	A	10: 28,369,060 (GRCm39)	N677K	probably damaging	Het
Rbm39	A	T	2: 156,004,793 (GRCm39)	D181E	possibly damaging	Het
Ros1	T	C	10: 52,042,293 (GRCm39)	T220A	possibly damaging	Het
Slc46a3	T	C	5: 147,823,021 (GRCm39)	I274V	probably benign	Het
Tas2r104	T	A	6: 131,661,938 (GRCm39)	N257I	probably damaging	Het
Timeless	A	G	10: 128,080,113 (GRCm39)		probably null	Het
Tmem63a	T	C	1: 180,800,398 (GRCm39)		probably null	Het
Traf5	T	C	1: 191,729,446 (GRCm39)	D535G	possibly damaging	Het
Trank1	C	T	9: 111,194,928 (GRCm39)	S984L	possibly damaging	Het
Trpm6	A	G	19: 18,833,539 (GRCm39)	T1573A	probably benign	Het
Ube3b	T	A	5: 114,550,360 (GRCm39)	I835N	probably damaging	Het
Wnt16	T	A	6: 22,290,947 (GRCm39)	I125N	probably damaging	Het
Xirp2	G	T	2: 67,307,129 (GRCm39)		probably benign	Het
Zbtb47	T	C	9: 121,596,405 (GRCm39)	F624S	possibly damaging	Het
Zc3h12c	G	T	9: 52,027,982 (GRCm39)	T460K	probably benign	Het
Zfp865	C	A	7: 5,033,416 (GRCm39)	T467K	probably benign	Het
Zim1	A	G	7: 6,680,697 (GRCm39)	V322A	possibly 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
R1457:Creld2	UTSW	15	88,707,956 (GRCm39)	missense	probably damaging	1.00
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
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'- CCTAGTGAATGTTGGGGCTC -3'
(R):5'- ATGCAGCTTTTGAAAGGGCC -3'

Sequencing Primer
(F):5'- ACCCTGAGCTGTCCTTAGAAAGTTG -3'
(R):5'- TTTTGAAAGGGCCAAGTGAGCATC -3'

Posted On

2016-12-20