Mutagenetix > Incidental Mutation

Incidental Mutation 'R3980:Klhl2'

311255

Institutional Source

Beutler Lab

Gene Symbol

Klhl2

Ensembl Gene

ENSMUSG00000031605

Gene Name

kelch-like 2, Mayven

Synonyms

Mav, 8530402H02Rik, ABP-KELCH, 6030411N21Rik

MMRRC Submission

040843-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R3980 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

65192709-65302669 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 65196115 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glycine to Cysteine at position 543 (G543C)

Ref Sequence

ENSEMBL: ENSMUSP00000147262 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000034017] [ENSMUST00000210166]

AlphaFold

Q8JZP3

Predicted Effect

probably damaging
Transcript: ENSMUST00000034017
AA Change: G543C

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

SMART Domains

Protein: ENSMUSP00000034017
Gene: ENSMUSG00000031605
AA Change: G543C

Domain	Start	End	E-Value	Type
BTB	56	153	9.65e-32	SMART
BACK	158	260	1.28e-40	SMART
Kelch	308	353	1.09e-9	SMART
Kelch	354	400	1.28e-15	SMART
Kelch	401	447	1.58e-15	SMART
Kelch	448	496	3.15e-15	SMART
Kelch	497	543	3.25e-17	SMART
Kelch	544	591	1.43e-13	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000210166
AA Change: G543C

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

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 97.2%
20x: 94.8%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrb1	G	A	15: 74,454,792 (GRCm39)	G268R	probably damaging	Het
Amacr	T	A	15: 10,989,015 (GRCm39)	Y240*	probably null	Het
Ankhd1	A	T	18: 36,780,666 (GRCm39)	H1906L	probably damaging	Het
Arhgef25	C	A	10: 127,023,089 (GRCm39)	C106F	probably damaging	Het
Bean1	A	T	8: 104,937,730 (GRCm39)	Q103L	possibly damaging	Het
Ccr9	A	T	9: 123,608,441 (GRCm39)	N41I	probably benign	Het
Ceacam16	A	G	7: 19,592,558 (GRCm39)	F117L	probably benign	Het
Col4a1	T	C	8: 11,289,155 (GRCm39)		probably benign	Het
Csk	A	G	9: 57,538,063 (GRCm39)	Y48H	probably damaging	Het
Csmd1	T	A	8: 15,956,056 (GRCm39)	K3384*	probably null	Het
Ctnnd2	T	A	15: 30,669,589 (GRCm39)	H399Q	probably benign	Het
Cutal	T	C	2: 34,772,325 (GRCm39)	Y30H	possibly damaging	Het
Cybb	T	C	X: 9,310,827 (GRCm39)	Y425C	probably damaging	Het
Dab2	A	G	15: 6,464,644 (GRCm39)		probably null	Het
Defb30	C	A	14: 63,273,421 (GRCm39)	C64F	probably damaging	Het
Eif2a	T	C	3: 58,446,960 (GRCm39)	I45T	probably benign	Het
Esyt1	T	A	10: 128,347,393 (GRCm39)	D1044V	probably damaging	Het
Gabpb2	A	T	3: 95,096,081 (GRCm39)	V382E	probably damaging	Het
Glb1	T	A	9: 114,246,132 (GRCm39)	I61K	probably damaging	Het
Insyn2b	G	A	11: 34,352,678 (GRCm39)	C240Y	probably benign	Het
Kcnt1	T	C	2: 25,783,226 (GRCm39)	V263A	possibly damaging	Het
Kdm5b	A	G	1: 134,547,408 (GRCm39)	D1019G	probably benign	Het
Krt31	G	T	11: 99,939,030 (GRCm39)	Q264K	probably damaging	Het
Lmnb1	A	G	18: 56,864,091 (GRCm39)	D232G	probably damaging	Het
Loxhd1	T	C	18: 77,501,855 (GRCm39)	F859L	probably damaging	Het
Map7	C	A	10: 20,143,099 (GRCm39)	T416K	unknown	Het
Med18	T	A	4: 132,190,251 (GRCm39)	I45F	probably benign	Het
Mn1	A	T	5: 111,569,636 (GRCm39)	H1202L	possibly damaging	Het
Mpp7	T	C	18: 7,444,062 (GRCm39)	D120G	probably benign	Het
Nlrp1b	A	T	11: 71,072,437 (GRCm39)	F469I	possibly damaging	Het
Nos3	T	A	5: 24,582,929 (GRCm39)	D685E	probably damaging	Het
Nrap	G	A	19: 56,369,984 (GRCm39)	A206V	probably benign	Het
Nuggc	T	C	14: 65,856,542 (GRCm39)		probably null	Het
Oasl1	C	T	5: 115,070,957 (GRCm39)	T274I	probably damaging	Het
Or10ak12	T	A	4: 118,666,500 (GRCm39)	Y187F	probably benign	Het
Or51a25	T	C	7: 102,372,959 (GRCm39)	N246S	probably damaging	Het
Parp3	T	C	9: 106,351,267 (GRCm39)	D278G	probably damaging	Het
Phc3	T	A	3: 30,991,080 (GRCm39)	Q346L	probably damaging	Het
Pigo	A	G	4: 43,019,231 (GRCm39)	L1029P	probably damaging	Het
Plcb3	A	G	19: 6,943,803 (GRCm39)	I66T	probably damaging	Het
Plch2	T	C	4: 155,069,255 (GRCm39)	S1019G	probably benign	Het
Plekhg6	C	A	6: 125,350,146 (GRCm39)	C264F	probably damaging	Het
Plxna2	C	T	1: 194,431,625 (GRCm39)	S538F	probably damaging	Het
Pou4f2	G	T	8: 79,162,067 (GRCm39)	H179N	possibly damaging	Het
Prpf39	T	C	12: 65,108,231 (GRCm39)		probably benign	Het
Rapgef1	G	A	2: 29,609,662 (GRCm39)	V700I	probably benign	Het
Rdh14	A	G	12: 10,444,703 (GRCm39)	I185V	probably benign	Het
Rnf111	A	T	9: 70,349,607 (GRCm39)	H785Q	probably damaging	Het
Rttn	C	T	18: 89,035,399 (GRCm39)	R758W	probably benign	Het
Sik3	G	A	9: 46,113,361 (GRCm39)	V601M	probably damaging	Het
Slc22a14	T	C	9: 119,007,552 (GRCm39)	T286A	probably benign	Het
Slc36a3	G	A	11: 55,026,209 (GRCm39)	T203I	probably benign	Het
Spata31	A	T	13: 65,070,468 (GRCm39)	Q872L	probably benign	Het
Spata31d1c	A	G	13: 65,182,974 (GRCm39)	D172G	possibly damaging	Het
Sphkap	A	T	1: 83,245,215 (GRCm39)		probably null	Het
Stat6	T	C	10: 127,491,248 (GRCm39)	V463A	probably damaging	Het
Stx7	T	C	10: 24,060,947 (GRCm39)	S225P	probably damaging	Het
Sult2a7	A	T	7: 14,207,334 (GRCm39)		probably benign	Het
Tada2a	A	T	11: 83,993,946 (GRCm39)	F179L	probably benign	Het
Tas2r103	A	G	6: 133,013,280 (GRCm39)	L262P	probably benign	Het
Tfap2d	A	G	1: 19,236,187 (GRCm39)	I382V	possibly damaging	Het
Tshr	C	A	12: 91,504,517 (GRCm39)	A485D	probably damaging	Het
Vmn1r32	T	A	6: 66,530,698 (GRCm39)	Y26F	probably damaging	Het
Vmn1r5	A	G	6: 56,962,636 (GRCm39)	T104A	probably damaging	Het
Wbp1l	T	A	19: 46,642,396 (GRCm39)		probably null	Het

Other mutations in Klhl2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00500:Klhl2	APN	8	65,202,120 (GRCm39)	missense	probably benign
IGL01111:Klhl2	APN	8	65,202,081 (GRCm39)	missense	probably damaging	1.00
IGL01620:Klhl2	APN	8	65,232,772 (GRCm39)	missense	probably damaging	1.00
IGL01878:Klhl2	APN	8	65,212,858 (GRCm39)	missense	probably damaging	0.97
IGL02333:Klhl2	APN	8	65,212,784 (GRCm39)	missense	probably damaging	1.00
IGL02664:Klhl2	APN	8	65,205,801 (GRCm39)	nonsense	probably null
IGL02828:Klhl2	APN	8	65,232,791 (GRCm39)	missense	probably damaging	1.00
IGL03162:Klhl2	APN	8	65,207,426 (GRCm39)	missense	probably damaging	0.99
R0315:Klhl2	UTSW	8	65,196,053 (GRCm39)	nonsense	probably null
R0482:Klhl2	UTSW	8	65,211,164 (GRCm39)	missense	probably benign	0.30
R1803:Klhl2	UTSW	8	65,212,831 (GRCm39)	missense	probably damaging	0.99
R1853:Klhl2	UTSW	8	65,275,658 (GRCm39)	missense	probably benign	0.03
R2155:Klhl2	UTSW	8	65,202,804 (GRCm39)	missense	probably benign	0.38
R2965:Klhl2	UTSW	8	65,205,794 (GRCm39)	missense	probably benign	0.01
R2979:Klhl2	UTSW	8	65,275,730 (GRCm39)	missense	probably damaging	1.00
R3980:Klhl2	UTSW	8	65,196,109 (GRCm39)	missense	probably damaging	1.00
R4597:Klhl2	UTSW	8	65,207,421 (GRCm39)	missense	probably damaging	1.00
R4627:Klhl2	UTSW	8	65,211,225 (GRCm39)	nonsense	probably null
R4825:Klhl2	UTSW	8	65,205,847 (GRCm39)	missense	probably damaging	1.00
R4854:Klhl2	UTSW	8	65,287,111 (GRCm39)	missense	possibly damaging	0.91
R5448:Klhl2	UTSW	8	65,275,642 (GRCm39)	critical splice donor site	probably null
R5945:Klhl2	UTSW	8	65,202,762 (GRCm39)	missense	probably benign
R5961:Klhl2	UTSW	8	65,202,818 (GRCm39)	missense	probably damaging	1.00
R6218:Klhl2	UTSW	8	65,205,801 (GRCm39)	nonsense	probably null
R6290:Klhl2	UTSW	8	65,264,351 (GRCm39)	missense	possibly damaging	0.75
R6334:Klhl2	UTSW	8	65,212,842 (GRCm39)	missense	probably benign	0.00
R6595:Klhl2	UTSW	8	65,196,077 (GRCm39)	nonsense	probably null
R6847:Klhl2	UTSW	8	65,212,816 (GRCm39)	missense	probably damaging	1.00
R6863:Klhl2	UTSW	8	65,275,743 (GRCm39)	missense	probably benign
R7086:Klhl2	UTSW	8	65,275,664 (GRCm39)	missense	probably damaging	1.00
R7493:Klhl2	UTSW	8	65,202,809 (GRCm39)	missense	probably damaging	1.00
R8061:Klhl2	UTSW	8	65,211,257 (GRCm39)	missense	probably damaging	1.00
R8243:Klhl2	UTSW	8	65,202,084 (GRCm39)	missense	probably benign
R9391:Klhl2	UTSW	8	65,275,684 (GRCm39)	missense	probably damaging	1.00
R9420:Klhl2	UTSW	8	65,205,870 (GRCm39)	nonsense	probably null
R9469:Klhl2	UTSW	8	65,196,069 (GRCm39)	missense	probably benign	0.05
R9510:Klhl2	UTSW	8	65,202,113 (GRCm39)	missense	probably benign
R9602:Klhl2	UTSW	8	65,205,696 (GRCm39)	missense	probably damaging	1.00
Z1176:Klhl2	UTSW	8	65,211,160 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GATATCAGTTTCGCTATATGCCAG -3'
(R):5'- ACTGTACAGAAGAGGTCTTACATAGC -3'

Sequencing Primer
(F):5'- CAGTTTCGCTATATGCCAGAAGACAG -3'
(R):5'- GAAGAGGTCTTACATAGCATCTCTGC -3'

Posted On

2015-04-29