Mutagenetix > Incidental Mutation

Incidental Mutation 'R2260:Adnp2'

243765

Institutional Source

Beutler Lab

Gene Symbol

Adnp2

Ensembl Gene

ENSMUSG00000053950

Gene Name

ADNP homeobox 2

Synonyms

8430420L05Rik, Zfp508

MMRRC Submission

040260-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R2260 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

80169526-80194697 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 80171664 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Lysine at position 915 (M915K)

Ref Sequence

ENSEMBL: ENSMUSP00000068560 (fasta)

Gene Model

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

AlphaFold

Q8CHC8

Predicted Effect

probably benign
Transcript: ENSMUST00000066743
AA Change: M915K

PolyPhen 2 Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)

SMART Domains

Protein: ENSMUSP00000068560
Gene: ENSMUSG00000053950
AA Change: M915K

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

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.9%
20x: 93.7%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acacb	A	T	5: 114,354,978 (GRCm39)	N1252I	probably damaging	Het
Acot5	A	T	12: 84,122,643 (GRCm39)	H409L	possibly damaging	Het
Adgrv1	A	T	13: 81,716,493 (GRCm39)	V840E	probably damaging	Het
Cd101	G	C	3: 100,924,261 (GRCm39)	L393V	possibly damaging	Het
Cd177	A	G	7: 24,455,661 (GRCm39)	V287A	possibly damaging	Het
Cdc37l1	A	T	19: 28,984,448 (GRCm39)	K194N	probably benign	Het
Cep126	T	C	9: 8,101,749 (GRCm39)	T262A	possibly damaging	Het
Chit1	A	G	1: 134,078,865 (GRCm39)	S392G	probably benign	Het
Col11a2	A	G	17: 34,258,651 (GRCm39)	H8R	probably benign	Het
Dusp12	C	T	1: 170,708,580 (GRCm39)	R120H	probably damaging	Het
Eln	C	A	5: 134,758,508 (GRCm39)	A126S	unknown	Het
Entpd2	C	T	2: 25,288,099 (GRCm39)	P108S	probably damaging	Het
Fkbp6	C	T	5: 135,366,468 (GRCm39)		probably null	Het
Ftcd	T	A	10: 76,423,893 (GRCm39)		probably null	Het
Gdf10	T	C	14: 33,654,234 (GRCm39)	L247P	probably damaging	Het
Gigyf1	C	A	5: 137,518,594 (GRCm39)	A215E	possibly damaging	Het
Gja4	C	A	4: 127,206,623 (GRCm39)	D47Y	probably damaging	Het
Gsn	G	A	2: 35,180,349 (GRCm39)	G130E	probably damaging	Het
Hrc	C	A	7: 44,986,105 (GRCm39)	R419S	possibly damaging	Het
Itfg1	C	T	8: 86,449,306 (GRCm39)	C576Y	probably damaging	Het
Lama1	G	T	17: 68,044,502 (GRCm39)	A134S	probably damaging	Het
Larp4	T	G	15: 99,895,277 (GRCm39)	F283L	possibly damaging	Het
Marveld2	A	G	13: 100,748,978 (GRCm39)	S34P	probably benign	Het
Mettl18	T	A	1: 163,824,394 (GRCm39)	D238E	probably benign	Het
Mfn1	G	T	3: 32,617,575 (GRCm39)	E74*	probably null	Het
Mfn2	C	A	4: 147,979,063 (GRCm39)	E90*	probably null	Het
Mill2	T	A	7: 18,590,413 (GRCm39)	D164E	probably benign	Het
Ncapd3	A	G	9: 26,967,368 (GRCm39)	D568G	probably benign	Het
Nt5c1b	A	T	12: 10,424,965 (GRCm39)	R170S	probably damaging	Het
Or10ak11	T	C	4: 118,687,359 (GRCm39)	I93V	probably damaging	Het
Or4c100	G	A	2: 88,356,730 (GRCm39)	V268I	possibly damaging	Het
Or5bw2	A	T	7: 6,573,022 (GRCm39)	I11F	probably damaging	Het
Or8d1b	T	C	9: 38,887,296 (GRCm39)	V108A	probably benign	Het
Pald1	G	A	10: 61,188,750 (GRCm39)	R87W	probably damaging	Het
Paox	T	A	7: 139,713,967 (GRCm39)	Y242*	probably null	Het
Pde2a	A	T	7: 101,133,774 (GRCm39)	D85V	probably damaging	Het
Pitrm1	C	T	13: 6,610,161 (GRCm39)	T411I	probably damaging	Het
Pkd1l3	A	G	8: 110,350,268 (GRCm39)	Q371R	probably benign	Het
Plaat5	C	T	19: 7,590,111 (GRCm39)	R46C	probably damaging	Het
Ptprk	A	G	10: 28,082,145 (GRCm39)	D38G	possibly damaging	Het
Rag2	G	A	2: 101,460,583 (GRCm39)	E298K	probably benign	Het
Rbm12b2	G	A	4: 12,095,061 (GRCm39)	R640H	probably benign	Het
Rcsd1	C	T	1: 165,486,998 (GRCm39)	A72T	probably benign	Het
Rims2	G	T	15: 39,341,962 (GRCm39)	E604*	probably null	Het
Rin2	A	G	2: 145,720,824 (GRCm39)	D719G	probably damaging	Het
Sash1	G	A	10: 8,662,142 (GRCm39)	Q155*	probably null	Het
Tacr1	A	T	6: 82,380,756 (GRCm39)	I56F	probably damaging	Het
Tbc1d4	G	A	14: 101,731,847 (GRCm39)	T455M	probably damaging	Het
Tex24	C	T	8: 27,834,883 (GRCm39)	T137I	probably damaging	Het
Tmem200a	A	C	10: 25,869,313 (GRCm39)	S319A	probably benign	Het
Tmem242	G	T	17: 5,483,745 (GRCm39)	A99E	probably damaging	Het
Tmem30a	C	T	9: 79,681,446 (GRCm39)	R277H	probably benign	Het
Tmprss11f	G	A	5: 86,739,269 (GRCm39)	A4V	probably benign	Het
Triobp	T	G	15: 78,875,640 (GRCm39)		probably null	Het
Tshz2	A	T	2: 169,728,326 (GRCm39)	Q505L	probably benign	Het
Ttyh1	T	C	7: 4,131,183 (GRCm39)	V218A	probably damaging	Het
Vmn2r11	A	T	5: 109,201,657 (GRCm39)	Y282*	probably null	Het
Vps13c	A	G	9: 67,861,142 (GRCm39)	N2891S	probably benign	Het
Xpo5	C	T	17: 46,551,822 (GRCm39)	Q1050*	probably null	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
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
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

Predicted Primers

PCR Primer
(F):5'- GGAGCACTTCTACAACGGAG -3'
(R):5'- CAACTGGACCTGGATGCTAATG -3'

Sequencing Primer
(F):5'- CTTCTACAACGGAGCAAATGG -3'
(R):5'- ACCTGGATGCTAATGGGAAC -3'

Posted On

2014-10-16