Mutagenetix > Incidental Mutation

Incidental Mutation 'R0830:Kdelc2'

77495

Institutional Source

Beutler Lab

Gene Symbol

Kdelc2

Ensembl Gene

ENSMUSG00000034487

Gene Name

KDEL (Lys-Asp-Glu-Leu) containing 2

Synonyms

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.093) question?

Stock #

R0830 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

53384025-53401867 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 53390711 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Arginine at position 32 (L32R)

Ref Sequence

ENSEMBL: ENSMUSP00000149383 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000037853] [ENSMUST00000214164]

AlphaFold

G5E897

Predicted Effect

probably damaging
Transcript: ENSMUST00000037853
AA Change: L221R

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

SMART Domains

Protein: ENSMUSP00000039313
Gene: ENSMUSG00000034487
AA Change: L221R

Domain	Start	End	E-Value	Type
signal peptide	1	19	N/A	INTRINSIC
IG_FLMN	23	132	2.17e-2	SMART
Blast:CAP10	135	224	5e-48	BLAST
CAP10	226	471	7.45e-68	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000214164
AA Change: L32R

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

Coding Region Coverage

1x: 99.2%
3x: 98.4%
10x: 96.0%
20x: 90.6%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 41 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700056E22Rik	C	T	1: 184,033,427	R145H	probably damaging	Het
2410089E03Rik	T	A	15: 8,247,185	V2771E	unknown	Het
Adam26a	C	T	8: 43,568,402	V684I	probably benign	Het
Alk	T	C	17: 72,603,200	I170M	probably benign	Het
Apc2	T	C	10: 80,315,405	Y2069H	probably damaging	Het
Aspm	A	G	1: 139,474,254	T1219A	probably damaging	Het
Bnip1	T	C	17: 26,789,705	S94P	probably benign	Het
Cftr	A	G	6: 18,270,225	I805V	probably benign	Het
Col25a1	T	A	3: 130,584,726	D609E	probably damaging	Het
Cyp2g1	A	G	7: 26,814,791	K274R	probably benign	Het
D5Ertd579e	G	A	5: 36,613,757	T1098I	probably damaging	Het
Ddx39	T	A	8: 83,719,823	C74S	possibly damaging	Het
E2f3	C	T	13: 29,985,560	A37T	probably benign	Het
Emilin2	A	G	17: 71,273,820	M637T	probably benign	Het
Exosc7	T	C	9: 123,119,293	L93P	probably benign	Het
F2	T	C	2: 91,630,200	E316G	probably benign	Het
Fat4	A	C	3: 38,999,109	Q4084P	probably benign	Het
Flywch1	T	C	17: 23,762,370	K160E	probably benign	Het
Foxi2	A	G	7: 135,411,730	T230A	probably benign	Het
Fthl17a	A	G	X: 85,270,073	N154S	possibly damaging	Het
Hykk	G	A	9: 54,937,317	R222Q	probably damaging	Het
Il18rap	T	A	1: 40,542,990	V357E	probably damaging	Het
Ing4	A	G	6: 125,043,960	E15G	probably damaging	Het
Irak1	T	C	X: 74,016,583	D679G	probably damaging	Het
Itga1	T	C	13: 115,007,032	E321G	probably benign	Het
Nudt1	T	A	5: 140,335,321		probably null	Het
Nupl1	A	G	14: 60,243,482	F138S	probably damaging	Het
Olfr122	A	T	17: 37,771,913	M87L	probably damaging	Het
Olfr448	G	T	6: 42,896,598	W49L	probably benign	Het
Pllp	T	C	8: 94,679,475	Y60C	probably damaging	Het
Pnpla7	T	C	2: 24,997,255	V37A	probably damaging	Het
Psme4	A	G	11: 30,807,797	H310R	possibly damaging	Het
Rasl10b	G	A	11: 83,417,839		probably null	Het
Sash1	C	T	10: 8,729,909	V906M	probably benign	Het
Scn1a	A	T	2: 66,299,784	I1212K	probably damaging	Het
Stbd1	A	T	5: 92,605,130	S160C	probably benign	Het
Tex29	T	C	8: 11,854,157	V99A	probably benign	Het
Tg	A	T	15: 66,725,144	N79I	probably damaging	Het
Tie1	T	C	4: 118,482,663	D389G	probably damaging	Het
Vmn1r178	A	G	7: 23,894,027	T167A	possibly damaging	Het
Xkr4	C	T	1: 3,670,745	G202S	possibly damaging	Het

Other mutations in Kdelc2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00334:Kdelc2	APN	9	53,398,030 (GRCm38)	intron	probably benign
IGL00334:Kdelc2	APN	9	53,398,028 (GRCm38)	intron	probably benign
IGL01061:Kdelc2	APN	9	53,388,587 (GRCm38)	unclassified	probably benign
IGL01114:Kdelc2	APN	9	53,388,579 (GRCm38)	critical splice donor site	probably null
IGL02227:Kdelc2	APN	9	53,388,479 (GRCm38)	missense	probably damaging	0.97
IGL02646:Kdelc2	APN	9	53,384,251 (GRCm38)	missense	probably benign	0.06
IGL02795:Kdelc2	APN	9	53,392,105 (GRCm38)	missense	probably damaging	1.00
IGL03029:Kdelc2	APN	9	53,384,288 (GRCm38)	critical splice donor site	probably null
R1256:Kdelc2	UTSW	9	53,388,462 (GRCm38)	missense	possibly damaging	0.62
R1806:Kdelc2	UTSW	9	53,395,850 (GRCm38)	missense	probably damaging	1.00
R5995:Kdelc2	UTSW	9	53,395,895 (GRCm38)	missense	probably damaging	0.98
R6170:Kdelc2	UTSW	9	53,399,742 (GRCm38)	missense	possibly damaging	0.91
R6348:Kdelc2	UTSW	9	53,390,440 (GRCm38)	missense	probably damaging	0.97
R6833:Kdelc2	UTSW	9	53,392,008 (GRCm38)	missense	possibly damaging	0.52
R7250:Kdelc2	UTSW	9	53,390,521 (GRCm38)	nonsense	probably null
R7403:Kdelc2	UTSW	9	53,390,441 (GRCm38)	missense	probably damaging	1.00
R8089:Kdelc2	UTSW	9	53,395,962 (GRCm38)	missense	probably benign	0.04
R9112:Kdelc2	UTSW	9	53,384,230 (GRCm38)	missense	probably damaging	1.00
R9478:Kdelc2	UTSW	9	53,391,936 (GRCm38)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TACTGTGACTGCCCGGAAGATGAC -3'
(R):5'- AAGGTAGGAGACTCACGCTCGTTC -3'

Sequencing Primer
(F):5'- AGGAAACCCTGTCTTGTCCAG -3'
(R):5'- CTGGAACACATTTCTGAGCCC -3'

Posted On

2013-10-16