Mutagenetix > Incidental Mutation

Incidental Mutation 'R0003:Adnp2'

7937

Institutional Source

Beutler Lab

Gene Symbol

Adnp2

Ensembl Gene

ENSMUSG00000053950

Gene Name

ADNP homeobox 2

Synonyms

8430420L05Rik, Zfp508

MMRRC Submission

038299-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R0003 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

80169526-80194697 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 80174205 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 68 (Y68C)

Ref Sequence

ENSEMBL: ENSMUSP00000068560 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000066743]

AlphaFold

Q8CHC8

Predicted Effect

probably damaging
Transcript: ENSMUST00000066743
AA Change: Y68C

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

SMART Domains

Protein: ENSMUSP00000068560
Gene: ENSMUSG00000053950
AA Change: Y68C

Domain	Start	End	E-Value	Type
ZnF_C2H2	73	96	4.57e0	SMART
ZnF_C2H2	106	128	1.06e2	SMART
ZnF_C2H2	155	178	5.48e0	SMART
ZnF_C2H2	215	240	7.29e0	SMART
low complexity region	277	290	N/A	INTRINSIC
low complexity region	298	318	N/A	INTRINSIC
low complexity region	333	355	N/A	INTRINSIC
low complexity region	545	567	N/A	INTRINSIC
low complexity region	625	648	N/A	INTRINSIC
low complexity region	656	674	N/A	INTRINSIC
ZnF_C2H2	696	718	9.96e0	SMART
ZnF_C2H2	724	746	4.99e1	SMART
low complexity region	747	761	N/A	INTRINSIC
ZnF_C2H2	777	798	1.93e2	SMART
ZnF_C2H2	800	823	4.34e0	SMART
ZnF_C2H2	905	928	5.81e-2	SMART
HOX	1073	1135	3.25e-4	SMART

Meta Mutation Damage Score

0.6925

Coding Region Coverage

1x: 80.3%
3x: 68.0%
10x: 36.1%
20x: 15.3%

Validation Efficiency

36% (21/58)

Allele List at MGI

Other mutations in this stock

Total: 16 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Arsi	C	T	18: 61,050,058 (GRCm39)	R314C	probably benign	Het
Cnnm3	T	C	1: 36,563,124 (GRCm39)	V696A	probably benign	Het
Decr2	A	T	17: 26,302,027 (GRCm39)	N234K	probably benign	Het
Eprs1	T	C	1: 185,146,588 (GRCm39)	V1206A	probably damaging	Het
Fmnl3	T	C	15: 99,219,013 (GRCm39)	T807A	probably damaging	Het
Ints3	C	A	3: 90,315,818 (GRCm39)	M315I	probably benign	Het
Lamc1	A	C	1: 153,138,185 (GRCm39)	L223R	probably damaging	Het
Loxhd1	T	C	18: 77,427,196 (GRCm39)	L398P	probably damaging	Het
Mx1	A	G	16: 97,252,788 (GRCm39)		probably benign	Het
Myt1	G	A	2: 181,443,664 (GRCm39)	G497S	probably damaging	Het
Or5t17	T	A	2: 86,832,710 (GRCm39)	Y132*	probably null	Het
Or9q1	T	C	19: 13,805,050 (GRCm39)	T237A	probably damaging	Het
Ptgdr2	G	A	19: 10,917,792 (GRCm39)	C103Y	probably damaging	Het
Spta1	A	T	1: 174,032,839 (GRCm39)	Q965H	probably damaging	Het
Tfg	T	C	16: 56,511,351 (GRCm39)	Y326C	possibly damaging	Het
Ttn	T	C	2: 76,574,027 (GRCm39)	D25622G	probably damaging	Het

Other mutations in Adnp2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00546:Adnp2	APN	18	80,172,082 (GRCm39)	missense	probably benign	0.00
IGL00730:Adnp2	APN	18	80,171,247 (GRCm39)	missense	probably benign
IGL01615:Adnp2	APN	18	80,171,692 (GRCm39)	missense	probably damaging	1.00
IGL01681:Adnp2	APN	18	80,171,103 (GRCm39)	missense	probably damaging	1.00
IGL02549:Adnp2	APN	18	80,172,333 (GRCm39)	missense	probably damaging	1.00
R0003:Adnp2	UTSW	18	80,174,205 (GRCm39)	missense	probably damaging	1.00
R0013:Adnp2	UTSW	18	80,172,960 (GRCm39)	missense	probably damaging	0.99
R0013:Adnp2	UTSW	18	80,172,960 (GRCm39)	missense	probably damaging	0.99
R0325:Adnp2	UTSW	18	80,173,868 (GRCm39)	missense	probably benign	0.06
R0478:Adnp2	UTSW	18	80,172,549 (GRCm39)	missense	probably benign	0.31
R0545:Adnp2	UTSW	18	80,172,616 (GRCm39)	missense	probably benign	0.31
R0788:Adnp2	UTSW	18	80,173,219 (GRCm39)	missense	probably benign
R1756:Adnp2	UTSW	18	80,170,912 (GRCm39)	makesense	probably null
R2043:Adnp2	UTSW	18	80,171,541 (GRCm39)	missense	probably damaging	1.00
R2121:Adnp2	UTSW	18	80,172,385 (GRCm39)	missense	probably benign	0.00
R2260:Adnp2	UTSW	18	80,171,664 (GRCm39)	missense	probably benign	0.01
R2374:Adnp2	UTSW	18	80,174,202 (GRCm39)	missense	probably damaging	1.00
R3416:Adnp2	UTSW	18	80,171,373 (GRCm39)	missense	possibly damaging	0.55
R3607:Adnp2	UTSW	18	80,172,284 (GRCm39)	missense	probably damaging	1.00
R4012:Adnp2	UTSW	18	80,174,036 (GRCm39)	missense	probably benign	0.01
R4260:Adnp2	UTSW	18	80,180,742 (GRCm39)	missense	possibly damaging	0.85
R4588:Adnp2	UTSW	18	80,171,863 (GRCm39)	missense	probably benign	0.22
R5158:Adnp2	UTSW	18	80,180,758 (GRCm39)	missense	probably damaging	0.99
R5652:Adnp2	UTSW	18	80,174,065 (GRCm39)	missense	probably damaging	1.00
R5717:Adnp2	UTSW	18	80,171,479 (GRCm39)	missense	probably benign	0.13
R6743:Adnp2	UTSW	18	80,171,274 (GRCm39)	missense	probably benign	0.00
R6786:Adnp2	UTSW	18	80,172,960 (GRCm39)	missense	probably benign	0.03
R6903:Adnp2	UTSW	18	80,173,305 (GRCm39)	missense	probably benign
R7105:Adnp2	UTSW	18	80,171,366 (GRCm39)	missense	possibly damaging	0.94
R7507:Adnp2	UTSW	18	80,174,068 (GRCm39)	missense	probably benign	0.22
R7620:Adnp2	UTSW	18	80,173,702 (GRCm39)	missense	probably damaging	1.00
R7914:Adnp2	UTSW	18	80,174,056 (GRCm39)	missense	probably damaging	0.96
R7991:Adnp2	UTSW	18	80,172,537 (GRCm39)	missense	probably damaging	0.97
R8290:Adnp2	UTSW	18	80,185,948 (GRCm39)	missense	probably damaging	1.00
R8366:Adnp2	UTSW	18	80,173,725 (GRCm39)	missense	probably damaging	1.00
R8712:Adnp2	UTSW	18	80,174,185 (GRCm39)	missense	probably damaging	1.00
R8742:Adnp2	UTSW	18	80,171,556 (GRCm39)	missense	probably damaging	1.00
R8932:Adnp2	UTSW	18	80,185,893 (GRCm39)	missense	probably damaging	1.00
R9108:Adnp2	UTSW	18	80,185,925 (GRCm39)	missense	probably damaging	1.00
R9163:Adnp2	UTSW	18	80,172,200 (GRCm39)	missense	possibly damaging	0.82
R9378:Adnp2	UTSW	18	80,172,637 (GRCm39)	missense	probably benign	0.00
R9567:Adnp2	UTSW	18	80,174,133 (GRCm39)	missense	probably damaging	1.00
R9664:Adnp2	UTSW	18	80,185,937 (GRCm39)	missense	probably damaging	1.00

Posted On

2012-11-20