Mutagenetix > Incidental Mutation

Incidental Mutation 'R8378:Alkal2'

646823

Institutional Source

Beutler Lab

Gene Symbol

Alkal2

Ensembl Gene

ENSMUSG00000054204

Gene Name

ALK and LTK ligand 2

Synonyms

6230419C23Rik, Augalpha, Augmentor alpha, Fam150b

MMRRC Submission

067746-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.065) question?

Stock #

R8378 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

30934323-30943855 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 30934850 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glycine to Valine at position 23 (G23V)

Ref Sequence

ENSEMBL: ENSMUSP00000070037 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000067087]

AlphaFold

Q80UG6

Predicted Effect

probably damaging
Transcript: ENSMUST00000067087
AA Change: G23V

PolyPhen 2 Score 0.973 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000070037
Gene: ENSMUSG00000054204
AA Change: G23V

Domain	Start	End	E-Value	Type
signal peptide	1	25	N/A	INTRINSIC
Pfam:FAM150	32	150	5.3e-59	PFAM

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 45 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933412E24Rik	A	G	15: 59,886,967 (GRCm39)	I491T	probably damaging	Het
Aadacl4fm4	C	G	4: 144,397,169 (GRCm39)	V188L	probably benign	Het
Ankrd40	G	T	11: 94,225,662 (GRCm39)	G231V	probably damaging	Het
Ap1s3	T	C	1: 79,601,445 (GRCm39)	E82G	probably damaging	Het
Bmp3	A	G	5: 99,003,248 (GRCm39)	N93D	probably damaging	Het
Car9	C	T	4: 43,509,021 (GRCm39)	R224C	probably damaging	Het
Cass4	T	C	2: 172,269,714 (GRCm39)	C599R	probably benign	Het
Ccdc171	A	G	4: 83,782,490 (GRCm39)	N1261D	possibly damaging	Het
Cdc42bpa	A	G	1: 179,989,709 (GRCm39)	D1726G	probably damaging	Het
Ceacam2	G	A	7: 25,217,597 (GRCm39)	A306V	probably damaging	Het
Crebrf	G	T	17: 26,981,263 (GRCm39)	L546F	probably damaging	Het
Crhr2	A	G	6: 55,069,941 (GRCm39)	F370S	probably damaging	Het
Dhtkd1	T	C	2: 5,922,699 (GRCm39)	T487A	probably benign	Het
Diaph1	G	A	18: 38,025,006 (GRCm39)	A485V	unknown	Het
Dmbt1	T	C	7: 130,708,195 (GRCm39)	V1479A	probably damaging	Het
Efemp1	C	T	11: 28,871,765 (GRCm39)	R427W	probably damaging	Het
Gm11444	C	A	11: 85,741,075 (GRCm39)	W28L		Het
Golga4	A	G	9: 118,387,390 (GRCm39)	D1504G	probably benign	Het
Hirip3	A	G	7: 126,462,757 (GRCm39)	S238G	probably benign	Het
Igkv1-135	T	A	6: 67,587,378 (GRCm39)	V83D	possibly damaging	Het
Ippk	T	A	13: 49,589,055 (GRCm39)	C183*	probably null	Het
Itgb3	A	G	11: 104,533,142 (GRCm39)	T419A	possibly damaging	Het
Kcnt1	A	G	2: 25,797,283 (GRCm39)	H129R	probably benign	Het
Kif18b	A	T	11: 102,807,299 (GRCm39)	V12E	probably damaging	Het
Kif2b	C	A	11: 91,467,201 (GRCm39)	G361C	possibly damaging	Het
Klhl30	A	T	1: 91,285,494 (GRCm39)	K339*	probably null	Het
Lrfn1	A	G	7: 28,159,157 (GRCm39)	I359V	probably benign	Het
Naip2	A	C	13: 100,298,290 (GRCm39)	I582S	probably benign	Het
Ndufaf2	C	A	13: 108,189,387 (GRCm39)	L120F	probably damaging	Het
Nlrp1b	A	G	11: 71,052,545 (GRCm39)	V961A	possibly damaging	Het
Or12e10	T	A	2: 87,640,394 (GRCm39)	Y77N	probably damaging	Het
Or2h15	A	G	17: 38,441,678 (GRCm39)	V135A	probably benign	Het
Pcnx2	G	A	8: 126,487,649 (GRCm39)	P1785S	probably damaging	Het
Pcyt2	A	G	11: 120,504,234 (GRCm39)	Y170H	probably benign	Het
Phf8-ps	C	A	17: 33,286,038 (GRCm39)	A255S	probably benign	Het
Rfx8	T	A	1: 39,709,581 (GRCm39)	D482V	probably damaging	Het
Rilpl1	T	C	5: 124,668,964 (GRCm39)	Y28C	probably damaging	Het
Sgce	G	C	6: 4,689,760 (GRCm39)	L394V	probably damaging	Het
Sgce	T	A	6: 4,691,525 (GRCm39)	Y350F	probably benign	Het
Tbk1	A	G	10: 121,414,597 (GRCm39)	V39A	probably damaging	Het
Tns1	T	A	1: 73,976,405 (GRCm39)	I1148F	probably damaging	Het
Vmn1r192	T	A	13: 22,372,029 (GRCm39)	R64*	probably null	Het
Vmn2r68	A	T	7: 84,871,108 (GRCm39)	V725E	probably benign	Het
Yy1	A	T	12: 108,759,562 (GRCm39)	H75L	unknown	Het
Zwilch	A	T	9: 64,060,240 (GRCm39)	V366D	possibly damaging	Het

Other mutations in Alkal2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00938:Alkal2	APN	12	30,937,089 (GRCm39)	missense	probably damaging	1.00
R4704:Alkal2	UTSW	12	30,937,195 (GRCm39)	missense	probably damaging	1.00
R4899:Alkal2	UTSW	12	30,934,972 (GRCm39)	missense	probably benign	0.02
R5641:Alkal2	UTSW	12	30,937,264 (GRCm39)	splice site	probably null
R5643:Alkal2	UTSW	12	30,934,889 (GRCm39)	missense	probably damaging	1.00
R5644:Alkal2	UTSW	12	30,934,889 (GRCm39)	missense	probably damaging	1.00
R6110:Alkal2	UTSW	12	30,937,057 (GRCm39)	missense	probably damaging	1.00
R8313:Alkal2	UTSW	12	30,934,850 (GRCm39)	missense	probably damaging	0.97
R8314:Alkal2	UTSW	12	30,934,850 (GRCm39)	missense	probably damaging	0.97
R8315:Alkal2	UTSW	12	30,934,850 (GRCm39)	missense	probably damaging	0.97
R8316:Alkal2	UTSW	12	30,934,850 (GRCm39)	missense	probably damaging	0.97
R8375:Alkal2	UTSW	12	30,934,850 (GRCm39)	missense	probably damaging	0.97
R8376:Alkal2	UTSW	12	30,934,850 (GRCm39)	missense	probably damaging	0.97
R8377:Alkal2	UTSW	12	30,934,850 (GRCm39)	missense	probably damaging	0.97
R8404:Alkal2	UTSW	12	30,934,850 (GRCm39)	missense	probably damaging	0.97
R8406:Alkal2	UTSW	12	30,934,850 (GRCm39)	missense	probably damaging	0.97
R8812:Alkal2	UTSW	12	30,940,055 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CCCGCTGTGAAAGAAAGTTGTG -3'
(R):5'- GTTCTACACCGAGGAACACTC -3'

Sequencing Primer
(F):5'- AAAGTTGTGCGGCGGGC -3'
(R):5'- GAGGAACACTCACCCACTCTCTG -3'

Posted On

2020-09-02