Mutagenetix > Incidental Mutation

Incidental Mutation 'R0545:Adnp2'

44797

Institutional Source

Beutler Lab

Gene Symbol

Adnp2

Ensembl Gene

ENSMUSG00000053950

Gene Name

ADNP homeobox 2

Synonyms

Zfp508, 8430420L05Rik

MMRRC Submission

038737-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R0545 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

80126311-80151482 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 80129401 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 598 (I598V)

Ref Sequence

ENSEMBL: ENSMUSP00000068560 (fasta)

Gene Model

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

AlphaFold

Q8CHC8

Predicted Effect

probably benign
Transcript: ENSMUST00000066743
AA Change: I598V

PolyPhen 2 Score 0.308 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000068560
Gene: ENSMUSG00000053950
AA Change: I598V

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

0.0747

Coding Region Coverage

1x: 99.6%
3x: 98.8%
10x: 96.9%
20x: 94.0%

Validation Efficiency

99% (66/67)

Allele List at MGI

Other mutations in this stock

Total: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4921504E06Rik	C	T	2: 19,542,376	R76H	probably damaging	Het
4932438A13Rik	G	A	3: 36,987,690		probably benign	Het
Ago3	T	C	4: 126,417,232	N63D	probably damaging	Het
Alkbh7	C	T	17: 56,999,012	R138*	probably null	Het
Atp6ap1l	T	C	13: 90,883,663	H300R	probably benign	Het
BC051076	C	T	5: 87,963,490		noncoding transcript	Het
Bpifb9a	T	A	2: 154,261,950	C104*	probably null	Het
Cacna2d2	T	C	9: 107,525,223	L826P	probably damaging	Het
Car5b	G	A	X: 163,979,301	R282C	probably damaging	Het
Ccdc88c	T	C	12: 100,947,188	D526G	probably damaging	Het
Cdh23	T	A	10: 60,331,291	T1861S	probably benign	Het
Ces2f	A	C	8: 104,950,036	M121L	possibly damaging	Het
Cfap58	G	A	19: 47,941,097		probably benign	Het
Chpf2	T	C	5: 24,590,324	S282P	possibly damaging	Het
Cluap1	C	T	16: 3,933,772	R332W	probably damaging	Het
Cma2	A	T	14: 55,973,113	M86L	probably benign	Het
Cog6	A	T	3: 52,996,075	M134K	probably damaging	Het
Col1a1	A	G	11: 94,951,594	D1446G	unknown	Het
Cpne8	T	A	15: 90,497,075	D512V	probably damaging	Het
Ctnna2	T	A	6: 77,605,182	N352I	probably damaging	Het
Cyp2c69	A	C	19: 39,886,661	L16R	probably damaging	Het
Dysf	T	C	6: 84,099,461	S603P	probably damaging	Het
Epha5	A	G	5: 84,067,358		probably null	Het
Ercc3	T	C	18: 32,245,902	S270P	probably damaging	Het
F10	T	A	8: 13,048,249	C151S	probably damaging	Het
Gpr180	T	G	14: 118,160,046	H317Q	possibly damaging	Het
Gstp2	T	C	19: 4,041,633	E32G	possibly damaging	Het
Ikzf5	T	C	7: 131,392,500	T133A	possibly damaging	Het
Itch	G	T	2: 155,182,298	G274*	probably null	Het
Jarid2	T	A	13: 44,902,831	N365K	probably benign	Het
Lama3	T	A	18: 12,561,701	S1295T	possibly damaging	Het
Lipc	A	G	9: 70,812,705	L255P	probably damaging	Het
Lrrc38	A	G	4: 143,350,758	D197G	probably benign	Het
Mfap2	A	G	4: 141,014,185		probably benign	Het
Mfhas1	A	G	8: 35,589,048	K226E	probably damaging	Het
Morc1	A	G	16: 48,565,657	R548G	probably benign	Het
Mrgprb5	T	C	7: 48,168,885	N34S	probably benign	Het
Mroh4	T	C	15: 74,625,427	T182A	probably benign	Het
Mylk	G	C	16: 34,879,475	E403Q	possibly damaging	Het
Myo5a	T	C	9: 75,167,037	F743L	possibly damaging	Het
Notch4	A	C	17: 34,583,433	D1276A	probably damaging	Het
Olfr139	A	G	11: 74,045,047	C76R	possibly damaging	Het
Olfr215	T	A	6: 116,582,656	I97L	probably benign	Het
Olfr394	A	T	11: 73,888,017	Y118*	probably null	Het
Olfr799	T	A	10: 129,647,349	C74S	probably damaging	Het
Plin4	T	A	17: 56,106,567	T353S	probably damaging	Het
Ppp1r9a	A	G	6: 5,115,357	T827A	probably benign	Het
Prlr	C	T	15: 10,317,566	T40I	probably damaging	Het
Psme3	T	C	11: 101,319,904		probably benign	Het
Pygb	A	T	2: 150,815,706	D363V	probably benign	Het
Rsph6a	C	T	7: 19,054,946	Q68*	probably null	Het
Serpini2	A	G	3: 75,258,138	V178A	probably benign	Het
Sh2d2a	T	C	3: 87,851,888		probably benign	Het
Skint7	A	C	4: 111,980,198	M58L	probably benign	Het
Slco3a1	G	T	7: 74,320,553	Y435*	probably null	Het
Stk17b	T	C	1: 53,762,583		probably benign	Het
Tinag	T	A	9: 77,031,710	H162L	possibly damaging	Het
Ttc21a	T	A	9: 119,958,799	L811Q	probably damaging	Het
Ttc41	A	T	10: 86,759,097	M912L	probably benign	Het
Vmn2r98	G	T	17: 19,053,613	V41F	probably benign	Het
Washc5	C	T	15: 59,342,093	C838Y	possibly damaging	Het
Wrnip1	A	G	13: 32,806,813	T352A	probably damaging	Het
Zan	A	C	5: 137,396,177	C4467G	unknown	Het
Zc3h7a	T	C	16: 11,152,333		probably benign	Het
Zfp729a	C	A	13: 67,620,226	C628F	probably benign	Het

Other mutations in Adnp2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00546:Adnp2	APN	18	80128867	missense	probably benign	0.00
IGL00730:Adnp2	APN	18	80128032	missense	probably benign
IGL01615:Adnp2	APN	18	80128477	missense	probably damaging	1.00
IGL01681:Adnp2	APN	18	80127888	missense	probably damaging	1.00
IGL02549:Adnp2	APN	18	80129118	missense	probably damaging	1.00
R0003:Adnp2	UTSW	18	80130990	missense	probably damaging	1.00
R0003:Adnp2	UTSW	18	80130990	missense	probably damaging	1.00
R0013:Adnp2	UTSW	18	80129745	missense	probably damaging	0.99
R0013:Adnp2	UTSW	18	80129745	missense	probably damaging	0.99
R0325:Adnp2	UTSW	18	80130653	missense	probably benign	0.06
R0478:Adnp2	UTSW	18	80129334	missense	probably benign	0.31
R0788:Adnp2	UTSW	18	80130004	missense	probably benign
R1756:Adnp2	UTSW	18	80127697	makesense	probably null
R2043:Adnp2	UTSW	18	80128326	missense	probably damaging	1.00
R2121:Adnp2	UTSW	18	80129170	missense	probably benign	0.00
R2260:Adnp2	UTSW	18	80128449	missense	probably benign	0.01
R2374:Adnp2	UTSW	18	80130987	missense	probably damaging	1.00
R3416:Adnp2	UTSW	18	80128158	missense	possibly damaging	0.55
R3607:Adnp2	UTSW	18	80129069	missense	probably damaging	1.00
R4012:Adnp2	UTSW	18	80130821	missense	probably benign	0.01
R4260:Adnp2	UTSW	18	80137527	missense	possibly damaging	0.85
R4588:Adnp2	UTSW	18	80128648	missense	probably benign	0.22
R5158:Adnp2	UTSW	18	80137543	missense	probably damaging	0.99
R5652:Adnp2	UTSW	18	80130850	missense	probably damaging	1.00
R5717:Adnp2	UTSW	18	80128264	missense	probably benign	0.13
R6743:Adnp2	UTSW	18	80128059	missense	probably benign	0.00
R6786:Adnp2	UTSW	18	80129745	missense	probably benign	0.03
R6903:Adnp2	UTSW	18	80130090	missense	probably benign
R7105:Adnp2	UTSW	18	80128151	missense	possibly damaging	0.94
R7507:Adnp2	UTSW	18	80130853	missense	probably benign	0.22
R7620:Adnp2	UTSW	18	80130487	missense	probably damaging	1.00
R7914:Adnp2	UTSW	18	80130841	missense	probably damaging	0.96
R7991:Adnp2	UTSW	18	80129322	missense	probably damaging	0.97
R8290:Adnp2	UTSW	18	80142733	missense	probably damaging	1.00
R8366:Adnp2	UTSW	18	80130510	missense	probably damaging	1.00
R8712:Adnp2	UTSW	18	80130970	missense	probably damaging	1.00
R8742:Adnp2	UTSW	18	80128341	missense	probably damaging	1.00
R8932:Adnp2	UTSW	18	80142678	missense	probably damaging	1.00
R9108:Adnp2	UTSW	18	80142710	missense	probably damaging	1.00
R9163:Adnp2	UTSW	18	80128985	missense	possibly damaging	0.82
R9378:Adnp2	UTSW	18	80129422	missense	probably benign	0.00
R9567:Adnp2	UTSW	18	80130918	missense	probably damaging	1.00
R9664:Adnp2	UTSW	18	80142722	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TGAGTGCCTGATTTGCATCTGCC -3'
(R):5'- GCTGCTTTCCTCAAACCAGACTGTC -3'

Sequencing Primer
(F):5'- AAGGAGCTGCCCATCTGTG -3'
(R):5'- TCCCTGTGAATCAGGGTGTAAAC -3'

Posted On

2013-06-11