Mutagenetix > Incidental Mutation

Incidental Mutation 'R4725:Igkv2-112'

358401

Institutional Source

Beutler Lab

Gene Symbol

Igkv2-112

Ensembl Gene

ENSMUSG00000076518

Gene Name

immunoglobulin kappa variable 2-112

Synonyms

MMRRC Submission

041960-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.235) question?

Stock #

R4725 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

68196965-68197689 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 68197450 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Leucine at position 40 (I40L)

Ref Sequence

ENSEMBL: ENSMUSP00000100120 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000103318] [ENSMUST00000103319]

AlphaFold

P01627

Predicted Effect

probably benign
Transcript: ENSMUST00000103318
AA Change: I41L

PolyPhen 2 Score 0.073 (Sensitivity: 0.93; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000100119
Gene: ENSMUSG00000076518
AA Change: I41L

Domain	Start	End	E-Value	Type
signal peptide	1	20	N/A	INTRINSIC
IGv	38	115	2.22e-19	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000103319
AA Change: I40L

PolyPhen 2 Score 0.103 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000100120
Gene: ENSMUSG00000076518
AA Change: I40L

Domain	Start	End	E-Value	Type
signal peptide	1	19	N/A	INTRINSIC
IGv	37	114	2.22e-19	SMART

Meta Mutation Damage Score

0.0751

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.2%
20x: 95.1%

Validation Efficiency

96% (64/67)

Allele List at MGI

Other mutations in this stock

Total: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
5830454E08Rik	T	C	9: 120,406,769 (GRCm39)		probably benign	Het
Adamts20	T	C	15: 94,249,643 (GRCm39)	E458G	probably damaging	Het
Adgrl3	T	C	5: 81,914,052 (GRCm39)	I1220T	possibly damaging	Het
Aldh1a1	T	A	19: 20,617,445 (GRCm39)	M459K	probably benign	Het
Bmal1	C	A	7: 112,903,566 (GRCm39)	P454Q	possibly damaging	Het
Camta1	A	G	4: 151,232,953 (GRCm39)	V240A	probably benign	Het
Ccdc88b	C	T	19: 6,834,481 (GRCm39)	G149R	probably damaging	Het
Ceacam5	T	C	7: 17,494,602 (GRCm39)	V870A	probably benign	Het
Cep192	A	C	18: 67,949,837 (GRCm39)	Q307P	probably benign	Het
Cep63	T	C	9: 102,467,755 (GRCm39)		probably benign	Het
Cldn12	A	G	5: 5,558,385 (GRCm39)	F14S	probably damaging	Het
Ctdsp1	G	A	1: 74,433,823 (GRCm39)	V135I	possibly damaging	Het
Dcaf10	G	A	4: 45,372,769 (GRCm39)	R394Q	possibly damaging	Het
Dchs1	T	C	7: 105,404,460 (GRCm39)	D2694G	probably damaging	Het
Dchs1	C	G	7: 105,414,759 (GRCm39)	G761A	probably damaging	Het
Dennd5b	A	G	6: 148,946,277 (GRCm39)	Y445H	probably damaging	Het
Dock1	T	A	7: 134,346,743 (GRCm39)	L225*	probably null	Het
Drd3	G	T	16: 43,643,164 (GRCm39)	E467*	probably null	Het
Dysf	A	T	6: 84,074,738 (GRCm39)	N527I	probably damaging	Het
Erbb2	A	G	11: 98,315,970 (GRCm39)	T358A	possibly damaging	Het
Fhad1	A	T	4: 141,655,689 (GRCm39)		probably null	Het
Ganc	T	C	2: 120,265,754 (GRCm39)	I434T	probably damaging	Het
Gm5830	T	A	1: 78,945,549 (GRCm39)		noncoding transcript	Het
Gm6096	G	T	7: 33,950,484 (GRCm39)	E8*	probably null	Het
Gne	A	G	4: 44,066,806 (GRCm39)	F63S	probably benign	Het
Gpat2	T	C	2: 127,273,902 (GRCm39)	V315A	possibly damaging	Het
Gpr33	A	G	12: 52,070,892 (GRCm39)	L49P	probably damaging	Het
Heatr1	C	T	13: 12,439,543 (GRCm39)	Q1374*	probably null	Het
Hivep1	A	G	13: 42,316,887 (GRCm39)	I2032V	probably benign	Het
Kcnab3	A	G	11: 69,221,294 (GRCm39)	N204D	probably benign	Het
Kcnj10	T	A	1: 172,196,726 (GRCm39)	F80Y	probably damaging	Het
Lcmt2	C	G	2: 120,969,911 (GRCm39)	V171L	probably benign	Het
Loxhd1	T	A	18: 77,483,153 (GRCm39)	Y1245N	probably damaging	Het
Lrrc7	GAAGTTGTTTGGAGATTCTTATCTTA	GA	3: 158,024,045 (GRCm39)		probably benign	Het
Mast1	A	G	8: 85,655,635 (GRCm39)	S170P	possibly damaging	Het
Mroh4	A	G	15: 74,487,956 (GRCm39)	L322P	probably damaging	Het
Npdc1	G	A	2: 25,298,957 (GRCm39)	D284N	probably damaging	Het
Nudcd3	A	T	11: 6,143,475 (GRCm39)	V1D	probably damaging	Het
Pah	T	A	10: 87,390,238 (GRCm39)	L25Q	probably damaging	Het
Pik3cg	A	T	12: 32,243,596 (GRCm39)		probably null	Het
Pira13	A	C	7: 3,824,547 (GRCm39)	S611A	probably benign	Het
Plekha6	C	A	1: 133,211,058 (GRCm39)	S625Y	probably damaging	Het
Rtn4	T	A	11: 29,658,362 (GRCm39)	S839T	probably damaging	Het
Rusc1	A	G	3: 88,998,736 (GRCm39)	S349P	possibly damaging	Het
Samsn1	A	T	16: 75,742,217 (GRCm39)		noncoding transcript	Het
Scimp	A	G	11: 70,691,539 (GRCm39)	V30A	probably damaging	Het
Serpinb13	C	T	1: 106,910,574 (GRCm39)	S66L	probably damaging	Het
Sgip1	A	G	4: 102,823,419 (GRCm39)	D680G	probably damaging	Het
Slc44a2	G	A	9: 21,259,691 (GRCm39)	V613M	probably damaging	Het
Smpdl3b	T	C	4: 132,472,489 (GRCm39)	T95A	probably damaging	Het
Spag6l	A	T	16: 16,610,395 (GRCm39)	L85H	probably damaging	Het
Sucla2	T	A	14: 73,806,429 (GRCm39)	Y167N	possibly damaging	Het
Svop	G	T	5: 114,203,546 (GRCm39)		probably benign	Het
Tnxb	A	T	17: 34,918,041 (GRCm39)	D2318V	probably damaging	Het
Trbv14	A	G	6: 41,112,332 (GRCm39)	D43G	probably benign	Het
Ubn2	A	G	6: 38,499,240 (GRCm39)		probably benign	Het
Ufsp1	T	C	5: 137,293,569 (GRCm39)	I173T	probably damaging	Het
Zbtb40	A	G	4: 136,746,072 (GRCm39)		probably benign	Het

Other mutations in Igkv2-112

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01831:Igkv2-112	APN	6	68,197,481 (GRCm39)	missense	possibly damaging	0.69
IGL03199:Igkv2-112	APN	6	68,197,000 (GRCm39)	missense	probably benign	0.03
PIT4791001:Igkv2-112	UTSW	6	68,197,599 (GRCm39)	missense	probably damaging	0.99
R7120:Igkv2-112	UTSW	6	68,197,510 (GRCm39)	missense	probably benign	0.17
R8223:Igkv2-112	UTSW	6	68,197,579 (GRCm39)	missense	probably benign	0.01
R9349:Igkv2-112	UTSW	6	68,197,678 (GRCm39)	missense	probably benign
Z1088:Igkv2-112	UTSW	6	68,197,631 (GRCm39)	missense	possibly damaging	0.76

Predicted Primers

PCR Primer
(F):5'- AGTTTTGCTTGACAGGCATGTATC -3'
(R):5'- GGGTGAAATCTGTTCCTGACC -3'

Sequencing Primer
(F):5'- CTGATGGCCCAGATGATTCCTAGAG -3'
(R):5'- GTGAAATCTGTTCCTGACCCACTG -3'

Posted On

2015-11-11