Mutagenetix > Incidental Mutation

Incidental Mutation 'R9446:Adck2'

713944

Institutional Source

Beutler Lab

Gene Symbol

Adck2

Ensembl Gene

ENSMUSG00000046947

Gene Name

aarF domain containing kinase 2

Synonyms

MMRRC Submission

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R9446 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

39550807-39565703 bp(+) (GRCm39)

Type of Mutation

unclassified

DNA Base Change (assembly)

G to T at 39551221 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Gene Model

predicted gene model for transcript(s): [ENSMUST00000051249] [ENSMUST00000140364] [ENSMUST00000145788]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000051249

SMART Domains

Protein: ENSMUSP00000050256
Gene: ENSMUSG00000046947

Domain	Start	End	E-Value	Type
low complexity region	90	124	N/A	INTRINSIC
low complexity region	502	518	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000140364

SMART Domains

Protein: ENSMUSP00000123563
Gene: ENSMUSG00000046947

Domain	Start	End	E-Value	Type
low complexity region	90	124	N/A	INTRINSIC
Pfam:ABC1	289	380	5.4e-18	PFAM
low complexity region	551	567	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000145788

SMART Domains

Protein: ENSMUSP00000144149
Gene: ENSMUSG00000046947

Domain	Start	End	E-Value	Type
Pfam:ABC1	1	67	4e-8	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000149304

SMART Domains

Protein: ENSMUSP00000121590
Gene: ENSMUSG00000046947

Domain	Start	End	E-Value	Type
Pfam:ABC1	1	69	1.4e-11	PFAM

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.8%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 43 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adal	T	G	2: 120,976,530 (GRCm39)	I90S	probably null	Het
Adgrf3	G	T	5: 30,401,957 (GRCm39)	D690E	probably benign	Het
Aff3	C	T	1: 38,574,337 (GRCm39)	G175S	probably benign	Het
Atf7	T	C	15: 102,459,923 (GRCm39)	H159R	probably damaging	Het
BB014433	GGGTTGGGGCCTCTGCACACAGCTTTGGAGGTGTACACACCCAGGTTGGGGGCTCTGCACACAGCTTTGGAGGTGTACACACCGGGGTTGGGGCCTCTGCACACAGCTTTGGAGGTGTACACACCCGGGTTGGGGCCTCTGCACACAGCTTTGGAGGTGTACACACCCGGGTTGGGGCCTCTGCACACAGCTTTGGAGGTGTACACACCCGGGTTGGGGCCTCTGCACACAGCTTTGGGGGTGTACACACCCGGGTTGGGGCCTCTGCACACAGCTTTGGAGGTGTACACACCCAGGTTGGGGGCTCTGCACACAGCTTTGGAGGTGTACACACCGGGGTTGGGGCCTCTGCACACAGCTTTGGAGGTGTACACACCCGGGTTGGGGCCTCTACACACAGCTTTGGAGGTGTACACACCCGGGTTGGGGCCTCTGCACACAGCTTTGG	GGGTTGGGGGCTCTGCACACAGCTTTGGAGGTGTACACACCGGGGTTGGGGCCTCTGCACACAGCTTTGGAGGTGTACACACCCGGGTTGGGGCCTCTGCACACAGCTTTGGAGGTGTACACACCCGGGTTGGGGCCTCTGCACACAGCTTTGGAGGTGTACACACCCGGGTTGGGGCCTCTGCACACAGCTTTGGGGGTGTACACACCCGGGTTGGGGCCTCTGCACACAGCTTTGGAGGTGTACACACCCAGGTTGGGGGCTCTGCACACAGCTTTGGAGGTGTACACACCGGGGTTGGGGCCTCTGCACACAGCTTTGGAGGTGTACACACCCGGGTTGGGGCCTCTACACACAGCTTTGGAGGTGTACACACCCGGGTTGGGGCCTCTGCACACAGCTTTGG	8: 15,091,810 (GRCm39)		probably benign	Het
Birc6	A	G	17: 74,925,491 (GRCm39)	K2241R	probably damaging	Het
Cacna1s	A	G	1: 136,045,362 (GRCm39)	E1670G	probably benign	Het
Clca4b	C	T	3: 144,638,134 (GRCm39)	A43T	probably benign	Het
Clock	T	A	5: 76,396,288 (GRCm39)	I154L	probably benign	Het
Dnah10	A	T	5: 124,823,677 (GRCm39)	D566V	probably damaging	Het
Eml1	T	C	12: 108,481,465 (GRCm39)	W443R	probably damaging	Het
Ghitm	A	G	14: 36,853,606 (GRCm39)	I78T	possibly damaging	Het
Gm4181	A	T	14: 51,873,062 (GRCm39)	M1K	probably null	Het
Gm9195	T	C	14: 72,717,957 (GRCm39)	Y187C	probably damaging	Het
Htt	A	G	5: 34,919,272 (GRCm39)	M8V	probably benign	Het
Ighv1-9	T	C	12: 114,547,388 (GRCm39)	Y51C	probably benign	Het
Kif13b	G	A	14: 64,984,470 (GRCm39)	E636K	probably damaging	Het
Mamdc4	T	A	2: 25,453,645 (GRCm39)	M1179L	probably benign	Het
Map3k4	G	A	17: 12,451,375 (GRCm39)	A1506V	probably damaging	Het
Mbtd1	T	C	11: 93,834,508 (GRCm39)	S622P	unknown	Het
Med13l	T	A	5: 118,876,567 (GRCm39)	D914E	probably benign	Het
Mettl9	T	A	7: 120,675,531 (GRCm39)	D310E	possibly damaging	Het
Myh13	T	G	11: 67,255,325 (GRCm39)	V1565G	probably benign	Het
Nrf1	A	G	6: 30,090,019 (GRCm39)	T33A	probably damaging	Het
Oas1d	A	G	5: 121,054,947 (GRCm39)	K173R	probably benign	Het
Or12e10	A	T	2: 87,640,199 (GRCm39)	M12L	probably benign	Het
Or1e34	T	A	11: 73,778,530 (GRCm39)	T223S	probably benign	Het
Or4k6	A	G	14: 50,475,974 (GRCm39)	Y123H	probably damaging	Het
Or8g54	A	T	9: 39,707,342 (GRCm39)	S224C	probably damaging	Het
Pde6a	T	A	18: 61,419,067 (GRCm39)	D814E	probably benign	Het
Pilrb2	T	C	5: 137,869,429 (GRCm39)	D57G	possibly damaging	Het
Psg21	T	A	7: 18,388,865 (GRCm39)	T76S	probably benign	Het
Ralgapa1	A	G	12: 55,754,808 (GRCm39)	V1161A	probably damaging	Het
Rtl1	C	G	12: 109,556,604 (GRCm39)	*1745S	probably null	Het
Samd8	T	C	14: 21,833,769 (GRCm39)	C296R		Het
Selplg	GTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCT	GTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCT	5: 113,957,756 (GRCm39)		probably benign	Het
Sfmbt1	T	C	14: 30,506,697 (GRCm39)	I247T	possibly damaging	Het
Smarca4	G	A	9: 21,547,155 (GRCm39)	A227T	unknown	Het
Trmt6	G	A	2: 132,650,774 (GRCm39)	S278L	probably benign	Het
Trpm6	T	C	19: 18,815,462 (GRCm39)	S1183P	possibly damaging	Het
Trpm7	T	A	2: 126,672,185 (GRCm39)		probably null	Het
Wnt10a	C	A	1: 74,842,728 (GRCm39)	F401L	possibly damaging	Het
Zfp970	A	T	2: 177,167,064 (GRCm39)	K213*	probably null	Het

Other mutations in Adck2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01356:Adck2	APN	6	39,560,854 (GRCm39)	missense	probably benign	0.02
IGL02369:Adck2	APN	6	39,551,678 (GRCm39)	missense	probably damaging	0.97
IGL02956:Adck2	APN	6	39,553,436 (GRCm39)	missense	probably benign	0.11
R0240:Adck2	UTSW	6	39,560,752 (GRCm39)	missense	probably benign	0.10
R0240:Adck2	UTSW	6	39,560,752 (GRCm39)	missense	probably benign	0.10
R0241:Adck2	UTSW	6	39,560,752 (GRCm39)	missense	probably benign	0.10
R0241:Adck2	UTSW	6	39,560,752 (GRCm39)	missense	probably benign	0.10
R1107:Adck2	UTSW	6	39,562,719 (GRCm39)	missense	possibly damaging	0.91
R1691:Adck2	UTSW	6	39,551,902 (GRCm39)	nonsense	probably null
R2125:Adck2	UTSW	6	39,552,076 (GRCm39)	missense	probably benign	0.00
R2206:Adck2	UTSW	6	39,560,773 (GRCm39)	missense	probably damaging	1.00
R2422:Adck2	UTSW	6	39,560,932 (GRCm39)	missense	possibly damaging	0.61
R4795:Adck2	UTSW	6	39,553,327 (GRCm39)	missense	probably benign	0.02
R5556:Adck2	UTSW	6	39,560,869 (GRCm39)	missense	probably benign	0.02
R6402:Adck2	UTSW	6	39,563,803 (GRCm39)	missense	possibly damaging	0.84
R6824:Adck2	UTSW	6	39,552,058 (GRCm39)	missense	probably benign	0.00
R6927:Adck2	UTSW	6	39,560,998 (GRCm39)	critical splice donor site	probably null
R7163:Adck2	UTSW	6	39,560,797 (GRCm39)	missense	probably damaging	0.99
R8249:Adck2	UTSW	6	39,562,667 (GRCm39)	nonsense	probably null
R8775:Adck2	UTSW	6	39,552,142 (GRCm39)	critical splice donor site	probably null
R8775-TAIL:Adck2	UTSW	6	39,552,142 (GRCm39)	critical splice donor site	probably null
R8958:Adck2	UTSW	6	39,560,848 (GRCm39)	missense	probably benign	0.01
R8964:Adck2	UTSW	6	39,551,083 (GRCm39)	unclassified	probably benign
Z1177:Adck2	UTSW	6	39,551,022 (GRCm39)	unclassified	probably benign

Predicted Primers

PCR Primer
(F):5'- GAGGCTTCGTCGTTCTCTCTAG -3'
(R):5'- CCATGGGCTGAGATTAATTTGG -3'

Sequencing Primer
(F):5'- GACTCCCTGCACTCTGAGC -3'
(R):5'- TTTGGGCAAAGTACCTAGCAG -3'

Posted On

2022-06-15