Mutagenetix > Incidental Mutation

Incidental Mutation 'R9469:Klhl2'

715361

Institutional Source

Beutler Lab

Gene Symbol

Klhl2

Ensembl Gene

ENSMUSG00000031605

Gene Name

kelch-like 2, Mayven

Synonyms

Mav, 8530402H02Rik, ABP-KELCH, 6030411N21Rik

MMRRC Submission

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R9469 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

65192709-65302669 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 65196069 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Valine at position 558 (A558V)

Ref Sequence

ENSEMBL: ENSMUSP00000147262 (fasta)

Gene Model

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

AlphaFold

Q8JZP3

Predicted Effect

probably benign
Transcript: ENSMUST00000034017
AA Change: A558V

PolyPhen 2 Score 0.020 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000034017
Gene: ENSMUSG00000031605
AA Change: A558V

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 benign
Transcript: ENSMUST00000210166
AA Change: A558V

PolyPhen 2 Score 0.046 (Sensitivity: 0.94; Specificity: 0.83)

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.2%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 78 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acsbg3	A	T	17: 57,183,283 (GRCm39)	D8V	probably benign	Het
Ada	T	A	2: 163,574,192 (GRCm39)	M155L	probably benign	Het
Adam23	A	G	1: 63,584,671 (GRCm39)	I360V	probably benign	Het
Ahnak	G	A	19: 8,988,225 (GRCm39)	G3170R	probably damaging	Het
Alb	G	A	5: 90,610,659 (GRCm39)	D80N	probably benign	Het
Amph	G	T	13: 19,270,769 (GRCm39)	G126V	probably damaging	Het
Anks1b	A	T	10: 90,733,205 (GRCm39)	M994L	possibly damaging	Het
Atp8a2	A	G	14: 60,028,668 (GRCm39)	L933P	probably benign	Het
Bcas1	T	C	2: 170,191,292 (GRCm39)	D546G	possibly damaging	Het
Bmpr2	A	C	1: 59,881,928 (GRCm39)	M186L	probably benign	Het
Clca3a2	T	C	3: 144,507,938 (GRCm39)	I711V	probably damaging	Het
Cobll1	G	A	2: 64,966,774 (GRCm39)	T128I	probably damaging	Het
Cog4	T	C	8: 111,608,804 (GRCm39)	W165R	unknown	Het
Cyp2j5	G	A	4: 96,517,731 (GRCm39)	R494*	probably null	Het
Dnah2	G	A	11: 69,321,896 (GRCm39)	A3808V	probably damaging	Het
Dnah5	A	T	15: 28,421,146 (GRCm39)	T3828S	probably benign	Het
Dsg1c	T	C	18: 20,400,947 (GRCm39)	I150T	probably damaging	Het
Ehd2	A	T	7: 15,684,332 (GRCm39)	I489N	probably damaging	Het
Fam24a	C	A	7: 130,938,392 (GRCm39)	T94K	probably damaging	Het
Gata2	A	G	6: 88,182,301 (GRCm39)	E423G	possibly damaging	Het
Gm8947	A	G	1: 151,069,063 (GRCm39)	I299V	unknown	Het
Gpr161	A	G	1: 165,133,896 (GRCm39)	I53V	possibly damaging	Het
Guca2b	G	A	4: 119,515,817 (GRCm39)	Q15*	probably null	Het
Hus1	A	G	11: 8,948,744 (GRCm39)	V219A	probably benign	Het
Il5	T	C	11: 53,614,824 (GRCm39)	W129R	probably damaging	Het
Ipmk	A	G	10: 71,201,843 (GRCm39)	Y77C	probably damaging	Het
Kcnip3	A	G	2: 127,307,322 (GRCm39)	L136P	probably benign	Het
Klra5	C	A	6: 129,883,686 (GRCm39)	W147L	possibly damaging	Het
Lig3	G	A	11: 82,686,199 (GRCm39)	C613Y	probably benign	Het
Lrriq1	A	G	10: 103,050,761 (GRCm39)	S664P	probably benign	Het
Megf6	A	G	4: 154,335,369 (GRCm39)	Y276C	probably damaging	Het
Mlph	A	G	1: 90,856,068 (GRCm39)	E119G	probably damaging	Het
Mrpl39	T	G	16: 84,517,170 (GRCm39)	R316S	probably damaging	Het
Myo18b	T	C	5: 112,994,247 (GRCm39)	D902G	probably benign	Het
Myocd	A	G	11: 65,087,220 (GRCm39)	S236P	probably benign	Het
Myom1	G	T	17: 71,368,122 (GRCm39)	A482S	possibly damaging	Het
Nol4	A	G	18: 23,085,318 (GRCm39)	V32A	probably damaging	Het
Nrp2	T	C	1: 62,804,030 (GRCm39)	Y555H	probably damaging	Het
Or12d12	T	C	17: 37,610,956 (GRCm39)	D119G	probably damaging	Het
Or4d10c	G	A	19: 12,065,434 (GRCm39)	H241Y	probably benign	Het
Or52l1	A	T	7: 104,829,967 (GRCm39)	H199Q	probably damaging	Het
Or8k27	C	A	2: 86,275,787 (GRCm39)	D180Y	probably damaging	Het
Papss1	A	G	3: 131,288,959 (GRCm39)	K175E	possibly damaging	Het
Pdcd5	T	C	7: 35,343,827 (GRCm39)	M39V	probably benign	Het
Plcl2	G	A	17: 50,913,953 (GRCm39)	D321N	probably benign	Het
Plxna4	G	A	6: 32,494,526 (GRCm39)	P30L	probably benign	Het
Pou2f1	G	A	1: 165,740,830 (GRCm39)	T113I	probably benign	Het
Ptpn2	T	A	18: 67,808,907 (GRCm39)	H303L	probably benign	Het
R3hdm1	T	A	1: 128,106,921 (GRCm39)		probably null	Het
Rdx	T	C	9: 51,977,069 (GRCm39)	V106A	probably damaging	Het
Ripk2	T	C	4: 16,138,181 (GRCm39)	D249G	possibly damaging	Het
Rnf169	A	T	7: 99,575,567 (GRCm39)	S343T	possibly damaging	Het
Rnf40	T	A	7: 127,195,769 (GRCm39)	L671Q	probably damaging	Het
Scube3	C	A	17: 28,386,138 (GRCm39)	S793*	probably null	Het
Sipa1l3	A	T	7: 29,028,481 (GRCm39)	M1633K	possibly damaging	Het
Slc16a14	A	T	1: 84,900,612 (GRCm39)	N124K	probably benign	Het
Smarcd2	G	A	11: 106,163,332 (GRCm39)	A68V	probably benign	Het
Smg1	T	C	7: 117,739,774 (GRCm39)	E3391G	possibly damaging	Het
Spata32	T	C	11: 103,099,741 (GRCm39)	M255V	possibly damaging	Het
Sstr5	T	A	17: 25,710,941 (GRCm39)	Q96L	probably damaging	Het
Tcaf3	A	G	6: 42,573,828 (GRCm39)	I128T	probably benign	Het
Tfdp1	C	T	8: 13,422,965 (GRCm39)	T290M	probably benign	Het
Ticrr	C	T	7: 79,344,511 (GRCm39)	H1459Y	probably benign	Het
Tmed4	T	A	11: 6,223,763 (GRCm39)	Q171L	probably benign	Het
Tmem40	G	A	6: 115,719,321 (GRCm39)	S48F	possibly damaging	Het
Tnfaip1	A	G	11: 78,419,075 (GRCm39)		probably null	Het
Top1mt	A	G	15: 75,539,742 (GRCm39)	Y290H	probably damaging	Het
Topaz1	A	T	9: 122,577,585 (GRCm39)	D165V	probably damaging	Het
Trim44	T	C	2: 102,230,651 (GRCm39)	S127G	unknown	Het
Ubac1	G	A	2: 25,897,763 (GRCm39)	R286C	probably damaging	Het
Ube2u	A	G	4: 100,406,958 (GRCm39)	E273G	possibly damaging	Het
Vmn1r213	G	A	13: 23,196,101 (GRCm39)	S228N	probably benign	Het
Vmn2r28	A	T	7: 5,487,118 (GRCm39)	V515E	probably damaging	Het
Vps13d	A	G	4: 144,780,691 (GRCm39)	L4011P		Het
Ythdc2	T	C	18: 45,019,383 (GRCm39)	F1384S	probably damaging	Het
Zfp423	T	A	8: 88,509,519 (GRCm39)	Y275F	probably damaging	Het
Zfp493	A	G	13: 67,934,325 (GRCm39)	K93E	probably benign	Het
Zfp980	G	T	4: 145,427,687 (GRCm39)	G139W	probably benign	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	65,196,115 (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
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'- GCCCACTGTTTAAGCATACAG -3'
(R):5'- GAAGAGGTCTTACATAGCATCTCTG -3'

Sequencing Primer
(F):5'- GCCCACTGTTTAAGCATACAGAACAG -3'
(R):5'- AGCACAGCTGTAGCCATTTTG -3'

Posted On

2022-06-15