Mutagenetix > Incidental Mutation

Incidental Mutation 'R6110:Alkal2'

484801

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

044428-MU

Accession Numbers

Essential gene?

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

Stock #

R6110 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

30934323-30943855 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 30937057 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Glutamine at position 90 (R90Q)

Ref Sequence

ENSEMBL: ENSMUSP00000070037 (fasta)

Gene Model

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

AlphaFold

Q80UG6

Predicted Effect

probably damaging
Transcript: ENSMUST00000067087
AA Change: R90Q

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

SMART Domains

Protein: ENSMUSP00000070037
Gene: ENSMUSG00000054204
AA Change: R90Q

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

Meta Mutation Damage Score

0.1080

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 97.8%
20x: 93.7%

Validation Efficiency

100% (60/60)

Allele List at MGI

Other mutations in this stock

Total: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Actl7b	T	C	4: 56,740,224 (GRCm39)	E378G	probably damaging	Het
Adam17	A	T	12: 21,403,949 (GRCm39)	V99E	probably damaging	Het
Amy1	C	T	3: 113,355,549 (GRCm39)	V309M	probably damaging	Het
Apob	T	C	12: 8,061,883 (GRCm39)	L3455P	probably damaging	Het
Ash1l	T	A	3: 88,892,436 (GRCm39)	H1438Q	probably damaging	Het
BC024139	A	G	15: 76,003,996 (GRCm39)	S757P	probably benign	Het
Btd	G	A	14: 31,363,065 (GRCm39)		probably benign	Het
C2cd3	T	A	7: 100,090,283 (GRCm39)	F462Y	probably damaging	Het
C4bp	T	A	1: 130,566,809 (GRCm39)	K177*	probably null	Het
Cacna1h	G	T	17: 25,610,250 (GRCm39)	P752Q	probably benign	Het
Cd34	G	A	1: 194,631,877 (GRCm39)		probably null	Het
Cimap1a	G	T	7: 140,428,554 (GRCm39)	R73L	possibly damaging	Het
Clptm1	G	A	7: 19,367,731 (GRCm39)		probably benign	Het
Dip2c	T	C	13: 9,673,802 (GRCm39)	S1081P	probably damaging	Het
Dnm3	CAGCCTTCGTTGGGTG	C	1: 161,838,637 (GRCm39)		probably benign	Het
Efcab6	T	G	15: 83,763,835 (GRCm39)	M1166L	possibly damaging	Het
Fam151a	G	A	4: 106,605,395 (GRCm39)	V586M	probably damaging	Het
Fap	T	G	2: 62,385,114 (GRCm39)	Y54S	possibly damaging	Het
Grhl1	A	G	12: 24,630,746 (GRCm39)		probably null	Het
Hcrtr2	T	C	9: 76,167,064 (GRCm39)	Y91C	probably damaging	Het
Ift70b	T	C	2: 75,768,144 (GRCm39)	Y203C	probably damaging	Het
Kat6b	C	T	14: 21,720,555 (GRCm39)	R1745C	probably damaging	Het
Kdm5a	T	C	6: 120,389,267 (GRCm39)	L898P	probably damaging	Het
Lipo5	T	C	19: 33,445,317 (GRCm39)	Q84R	unknown	Het
Mfn1	G	A	3: 32,617,173 (GRCm39)	M18I	probably benign	Het
Mptx2	G	A	1: 173,102,414 (GRCm39)	L92F	probably benign	Het
Mtfmt	T	C	9: 65,354,586 (GRCm39)		probably null	Het
Nsun2	C	G	13: 69,775,767 (GRCm39)	Q404E	probably benign	Het
Or1j17	T	C	2: 36,578,559 (GRCm39)	S182P	probably benign	Het
Or2at4	C	T	7: 99,384,377 (GRCm39)	S9L	possibly damaging	Het
Or52d1	A	G	7: 103,755,779 (GRCm39)	M98V	probably damaging	Het
Or5b123	C	T	19: 13,597,249 (GRCm39)	A241V	probably benign	Het
Or5j3	T	A	2: 86,129,019 (GRCm39)	N286K	probably damaging	Het
Or5p70	G	T	7: 107,995,035 (GRCm39)	S236I	possibly damaging	Het
Or6c215	G	A	10: 129,637,689 (GRCm39)	A235V	probably damaging	Het
Or6c215	C	A	10: 129,637,690 (GRCm39)	A235S	probably damaging	Het
Parp9	A	G	16: 35,773,996 (GRCm39)	I90V	possibly damaging	Het
Pate7	A	T	9: 35,688,442 (GRCm39)	S48T	possibly damaging	Het
Pax2	T	A	19: 44,779,175 (GRCm39)	S183T	probably damaging	Het
Pcdha11	T	C	18: 37,144,509 (GRCm39)	L200P	probably damaging	Het
Pcdhb4	T	C	18: 37,441,482 (GRCm39)	V264A	possibly damaging	Het
Plch1	G	T	3: 63,606,279 (GRCm39)	N1199K	possibly damaging	Het
Ptpn22	A	G	3: 103,819,331 (GRCm39)	N795S	probably damaging	Het
Qars1	T	C	9: 108,385,297 (GRCm39)	S6P	probably benign	Het
Sema3a	T	C	5: 13,630,969 (GRCm39)	Y502H	probably damaging	Het
Sema4f	A	G	6: 82,914,085 (GRCm39)	I91T	probably damaging	Het
Setx	T	G	2: 29,030,302 (GRCm39)	I247S	probably damaging	Het
Slc9c1	T	C	16: 45,395,731 (GRCm39)	L594P	probably damaging	Het
Tnfrsf19	A	T	14: 61,208,588 (GRCm39)	M311K	probably benign	Het
Tubgcp4	T	C	2: 121,024,589 (GRCm39)	I588T	probably benign	Het
Tyro3	T	C	2: 119,643,304 (GRCm39)	V655A	probably damaging	Het
Uba7	T	A	9: 107,856,138 (GRCm39)	D504E	probably benign	Het
Vav3	C	T	3: 109,571,681 (GRCm39)	T201M	probably damaging	Het
Vldlr	A	G	19: 27,215,477 (GRCm39)	E117G	possibly damaging	Het
Vmn2r44	A	T	7: 8,381,005 (GRCm39)	I296K	probably damaging	Het
Vmn2r80	T	A	10: 79,017,837 (GRCm39)	C521S	probably damaging	Het
Wnk1	A	T	6: 119,949,958 (GRCm39)		probably benign	Het
Xpo1	T	C	11: 23,237,434 (GRCm39)	S766P	probably damaging	Het
Zcchc4	A	G	5: 52,953,486 (GRCm39)	N165S	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
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
R8378: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'- AAATCATGTCCCGACCTAAGTGTC -3'
(R):5'- ACTTACATGCGGGGATGGTG -3'

Sequencing Primer
(F):5'- GTGTCCACACTGTATTTTGTGTAAC -3'
(R):5'- CAGTCTCTCGTGTTGTGGTAAAGTC -3'

Posted On

2017-08-16