Mutagenetix > Incidental Mutation

Incidental Mutation 'R1167:Adnp'

101080

Institutional Source

Beutler Lab

Gene Symbol

Adnp

Ensembl Gene

ENSMUSG00000051149

Gene Name

activity-dependent neuroprotective protein

Synonyms

MMRRC Submission

039240-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R1167 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

168022906-168049032 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 168026420 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 292 (S292P)

Ref Sequence

ENSEMBL: ENSMUSP00000085316 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000057793] [ENSMUST00000088001] [ENSMUST00000138667]

AlphaFold

Q9Z103

Predicted Effect

probably benign
Transcript: ENSMUST00000057793
AA Change: S292P

PolyPhen 2 Score 0.111 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000056809
Gene: ENSMUSG00000051149
AA Change: S292P

Domain	Start	End	E-Value	Type
ZnF_C2H2	74	97	6.57e0	SMART
ZnF_C2H2	107	129	1.77e1	SMART
low complexity region	130	141	N/A	INTRINSIC
ZnF_C2H2	165	188	1.29e1	SMART
ZnF_C2H2	221	244	1.4e1	SMART
low complexity region	423	437	N/A	INTRINSIC
ZnF_C2H2	446	468	8.62e1	SMART
ZnF_C2H2	488	509	2.54e1	SMART
ZnF_C2H2	511	534	1.03e-2	SMART
low complexity region	582	596	N/A	INTRINSIC
ZnF_C2H2	621	646	1.27e2	SMART
HOX	756	817	2.95e-6	SMART
low complexity region	957	970	N/A	INTRINSIC
low complexity region	1012	1023	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000088001
AA Change: S292P

PolyPhen 2 Score 0.111 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000085316
Gene: ENSMUSG00000051149
AA Change: S292P

Domain	Start	End	E-Value	Type
ZnF_C2H2	74	97	6.57e0	SMART
ZnF_C2H2	107	129	1.77e1	SMART
low complexity region	130	141	N/A	INTRINSIC
ZnF_C2H2	165	188	1.29e1	SMART
ZnF_C2H2	221	244	1.4e1	SMART
low complexity region	423	437	N/A	INTRINSIC
ZnF_C2H2	446	468	8.62e1	SMART
ZnF_C2H2	488	509	2.54e1	SMART
ZnF_C2H2	511	534	1.03e-2	SMART
low complexity region	582	596	N/A	INTRINSIC
ZnF_C2H2	621	646	1.27e2	SMART
HOX	756	817	2.95e-6	SMART
low complexity region	957	970	N/A	INTRINSIC
low complexity region	1012	1023	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000138667

SMART Domains

Protein: ENSMUSP00000139070
Gene: ENSMUSG00000093752

Domain	Start	End	E-Value	Type
Pfam:Glyco_tranf_2_3	24	240	1.1e-13	PFAM
Pfam:Glyco_tranf_2_2	28	153	8.4e-10	PFAM
Pfam:Glycos_transf_2	28	199	3.8e-40	PFAM
Pfam:Glyco_transf_21	87	200	1.5e-7	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000139984

Coding Region Coverage

1x: 99.2%
3x: 98.4%
10x: 96.6%
20x: 93.3%

Validation Efficiency

MGI Phenotype

FUNCTION: This gene encodes a member of a protein family characterized by nine zinc finger motifs followed by a homeobox domain. In vitro studies demonstrate that the encoded protein interacts with the brahma-related gene1-associated or hBRM factors (BAF) gene expression regulating complex, components of the protein translation machinery, and microtubule-associated proteins. This gene has been implicated in neuroprotection through various processes that include chromatin remodeling, splicing, cytoskeletal reorganization, and autophagy. Homozygous mutant knockout mice display embryonic lethality with defects in neural tube closure. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2016]
PHENOTYPE: Developmental defects including the failure of the cranial neural tube to close lead to embryonic death between E8.5 and E9. [provided by MGI curators]

Allele List at MGI

All alleles(1) : Targeted, knock-out(1)

Other mutations in this stock

Total: 75 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930433I11Rik	A	T	7: 40,643,003 (GRCm39)	D315V	probably damaging	Het
Acr	T	C	15: 89,458,177 (GRCm39)	I286T	probably damaging	Het
Apol6	T	A	15: 76,931,308 (GRCm39)	Y17*	probably null	Het
Arhgap22	A	G	14: 33,065,264 (GRCm39)		probably null	Het
Bfar	A	G	16: 13,516,758 (GRCm39)	K202E	possibly damaging	Het
Bmpr2	A	T	1: 59,898,463 (GRCm39)	S470C	probably damaging	Het
Cep135	A	G	5: 76,772,484 (GRCm39)	E623G	probably damaging	Het
Clcn3	A	G	8: 61,375,822 (GRCm39)		probably null	Het
Clptm1	A	T	7: 19,368,136 (GRCm39)	M523K	probably damaging	Het
Cyp26b1	A	G	6: 84,561,312 (GRCm39)	W117R	probably damaging	Het
Dnmt3c	T	G	2: 153,553,701 (GRCm39)		probably null	Het
Dst	A	G	1: 34,262,939 (GRCm39)	E2212G	probably damaging	Het
Edrf1	A	G	7: 133,245,795 (GRCm39)	T238A	probably benign	Het
Elmo1	T	C	13: 20,369,625 (GRCm39)	V10A	probably damaging	Het
Ermp1	A	G	19: 29,606,079 (GRCm39)	S225P	possibly damaging	Het
Fem1al	C	T	11: 29,773,567 (GRCm39)	R630H	probably damaging	Het
Fes	A	T	7: 80,032,857 (GRCm39)	L296Q	probably damaging	Het
Foxn1	A	T	11: 78,249,892 (GRCm39)	N544K	probably damaging	Het
Gga1	C	G	15: 78,772,370 (GRCm39)	N223K	probably damaging	Het
Gm10608	CAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA	CAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA	9: 118,989,784 (GRCm39)		probably null	Het
Gm4884	A	T	7: 40,693,336 (GRCm39)	Q435L	possibly damaging	Het
Gm8444	T	C	15: 81,727,581 (GRCm39)		probably benign	Het
Ift140	T	G	17: 25,254,719 (GRCm39)	S131A	probably benign	Het
Ipo4	A	G	14: 55,872,477 (GRCm39)	L88P	probably damaging	Het
Itgal	G	A	7: 126,900,111 (GRCm39)	S123N	probably damaging	Het
Kcnn3	C	T	3: 89,472,259 (GRCm39)	Q344*	probably null	Het
Lrrc8e	A	T	8: 4,285,337 (GRCm39)	M521L	probably benign	Het
Myocd	G	T	11: 65,087,203 (GRCm39)	D113E	possibly damaging	Het
Nek4	G	A	14: 30,696,302 (GRCm39)	R499H	possibly damaging	Het
Notch3	T	C	17: 32,341,719 (GRCm39)	D2011G	possibly damaging	Het
Ola1	A	G	2: 72,927,538 (GRCm39)	V347A	probably damaging	Het
Or13p5	C	A	4: 118,591,829 (GRCm39)	F34L	possibly damaging	Het
Or6c75	G	A	10: 129,337,019 (GRCm39)	V89I	probably benign	Het
Or8u10	A	G	2: 85,915,635 (GRCm39)	V162A	probably benign	Het
Oxct2b	A	G	4: 123,011,378 (GRCm39)	T433A	probably damaging	Het
P2ry14	T	C	3: 59,022,552 (GRCm39)	R312G	probably damaging	Het
Pbrm1	A	G	14: 30,772,099 (GRCm39)	N398D	probably damaging	Het
Pdc	T	C	1: 150,208,996 (GRCm39)	Y160H	probably damaging	Het
Pdlim2	C	T	14: 70,402,228 (GRCm39)	R296H	probably damaging	Het
Pop4	A	T	7: 37,962,693 (GRCm39)	D190E	probably benign	Het
Prb1c	G	A	6: 132,338,553 (GRCm39)	P222S	unknown	Het
R3hdm4	A	G	10: 79,747,907 (GRCm39)		probably null	Het
Rab1a	C	A	11: 20,173,172 (GRCm39)	T91K	possibly damaging	Het
Rad9a	A	G	19: 4,247,501 (GRCm39)	V215A	possibly damaging	Het
Rassf3	A	G	10: 121,252,159 (GRCm39)	V84A	probably damaging	Het
Rftn2	G	A	1: 55,243,458 (GRCm39)	T270M	probably damaging	Het
Rho	A	G	6: 115,912,384 (GRCm39)	T100A	probably damaging	Het
Rnft2	T	C	5: 118,366,947 (GRCm39)	I264V	possibly damaging	Het
Robo3	A	T	9: 37,335,203 (GRCm39)	Y567*	probably null	Het
Rpp14	T	A	14: 8,083,705 (GRCm38)		probably null	Het
Rtkn2	T	C	10: 67,833,450 (GRCm39)	S98P	probably damaging	Het
Ryr2	A	G	13: 11,674,999 (GRCm39)	V3376A	possibly damaging	Het
Sbf2	A	T	7: 109,963,756 (GRCm39)	W1030R	probably damaging	Het
Setbp1	G	A	18: 78,900,451 (GRCm39)	A1072V	possibly damaging	Het
Slc4a10	A	G	2: 62,058,918 (GRCm39)	K142E	probably damaging	Het
Slc52a2	A	G	15: 76,423,791 (GRCm39)	E40G	probably benign	Het
Slc8a2	A	G	7: 15,891,312 (GRCm39)	N784S	possibly damaging	Het
Spats2l	A	T	1: 57,982,270 (GRCm39)	Q384L	probably damaging	Het
Steap4	A	C	5: 8,026,520 (GRCm39)	K161T	probably benign	Het
Taf10	T	C	7: 105,392,438 (GRCm39)	S188G	probably benign	Het
Tbc1d4	C	T	14: 101,845,455 (GRCm39)	D148N	probably damaging	Het
Tenm2	T	G	11: 36,755,511 (GRCm39)	K162N	probably benign	Het
Tmem147	A	G	7: 30,427,221 (GRCm39)	V146A	probably benign	Het
Tnfsf8	A	G	4: 63,755,323 (GRCm39)	S100P	possibly damaging	Het
Trim56	T	C	5: 137,141,374 (GRCm39)	Y714C	probably damaging	Het
Ubxn8	A	G	8: 34,131,929 (GRCm39)	S13P	probably damaging	Het
Usp49	A	G	17: 47,983,151 (GRCm39)	D52G	possibly damaging	Het
Vegfc	A	C	8: 54,639,078 (GRCm39)	Y408S	probably benign	Het
Vmn2r77	A	G	7: 86,450,954 (GRCm39)	N280S	probably benign	Het
Vmn2r8	T	A	5: 108,951,042 (GRCm39)	L134F	probably benign	Het
Wdfy3	T	A	5: 102,023,797 (GRCm39)	I2437F	probably benign	Het
Wwc2	A	T	8: 48,311,814 (GRCm39)	L783*	probably null	Het
Zer1	C	T	2: 29,998,258 (GRCm39)	R351H	probably benign	Het
Zfp715	A	T	7: 42,947,861 (GRCm39)	F700I	possibly damaging	Het
Zfp995	G	A	17: 22,098,960 (GRCm39)	H425Y	probably damaging	Het

Other mutations in Adnp

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00427:Adnp	APN	2	168,024,482 (GRCm39)	missense	probably benign
IGL00500:Adnp	APN	2	168,025,243 (GRCm39)	missense	possibly damaging	0.85
IGL01604:Adnp	APN	2	168,026,258 (GRCm39)	missense	probably damaging	0.99
IGL01967:Adnp	APN	2	168,025,339 (GRCm39)	missense	possibly damaging	0.85
IGL02470:Adnp	APN	2	168,025,114 (GRCm39)	missense	probably damaging	0.99
C9142:Adnp	UTSW	2	168,026,327 (GRCm39)	missense	probably damaging	0.99
R0893:Adnp	UTSW	2	168,025,647 (GRCm39)	missense	possibly damaging	0.85
R1182:Adnp	UTSW	2	168,026,716 (GRCm39)	missense	possibly damaging	0.77
R1480:Adnp	UTSW	2	168,025,454 (GRCm39)	missense	probably damaging	0.99
R1505:Adnp	UTSW	2	168,025,661 (GRCm39)	missense	possibly damaging	0.93
R1906:Adnp	UTSW	2	168,024,287 (GRCm39)	missense	probably benign
R3711:Adnp	UTSW	2	168,026,743 (GRCm39)	missense	probably damaging	0.98
R3943:Adnp	UTSW	2	168,026,980 (GRCm39)	missense	possibly damaging	0.92
R4440:Adnp	UTSW	2	168,026,721 (GRCm39)	missense	possibly damaging	0.92
R4686:Adnp	UTSW	2	168,024,309 (GRCm39)	missense	possibly damaging	0.78
R4916:Adnp	UTSW	2	168,029,537 (GRCm39)	missense	possibly damaging	0.91
R5072:Adnp	UTSW	2	168,024,921 (GRCm39)	missense	probably damaging	0.96
R5312:Adnp	UTSW	2	168,026,108 (GRCm39)	missense	probably benign
R5393:Adnp	UTSW	2	168,024,869 (GRCm39)	missense	possibly damaging	0.95
R5598:Adnp	UTSW	2	168,025,645 (GRCm39)	missense	probably damaging	0.99
R6230:Adnp	UTSW	2	168,024,452 (GRCm39)	missense	probably benign
R7165:Adnp	UTSW	2	168,024,287 (GRCm39)	missense	probably benign	0.07
R7176:Adnp	UTSW	2	168,024,578 (GRCm39)	missense	probably benign
R7238:Adnp	UTSW	2	168,025,887 (GRCm39)	missense	probably damaging	1.00
R7254:Adnp	UTSW	2	168,025,918 (GRCm39)	missense	probably damaging	0.99
R7581:Adnp	UTSW	2	168,025,386 (GRCm39)	missense	probably damaging	0.96
R7676:Adnp	UTSW	2	168,025,367 (GRCm39)	nonsense	probably null
R7863:Adnp	UTSW	2	168,031,270 (GRCm39)	missense	possibly damaging	0.91
R8098:Adnp	UTSW	2	168,024,452 (GRCm39)	missense	probably benign
R8196:Adnp	UTSW	2	168,025,092 (GRCm39)	missense	probably benign
R8970:Adnp	UTSW	2	168,031,290 (GRCm39)	missense	possibly damaging	0.91
R9153:Adnp	UTSW	2	168,026,580 (GRCm39)	missense	possibly damaging	0.96
R9154:Adnp	UTSW	2	168,026,580 (GRCm39)	missense	possibly damaging	0.96
R9228:Adnp	UTSW	2	168,026,798 (GRCm39)	missense	probably damaging	0.98
R9256:Adnp	UTSW	2	168,025,945 (GRCm39)	missense	probably damaging	1.00
R9268:Adnp	UTSW	2	168,031,233 (GRCm39)	missense	possibly damaging	0.86
R9434:Adnp	UTSW	2	168,026,377 (GRCm39)	missense	probably damaging	0.99
R9517:Adnp	UTSW	2	168,024,866 (GRCm39)	missense	possibly damaging	0.93
R9621:Adnp	UTSW	2	168,024,663 (GRCm39)	missense	probably benign	0.22
R9669:Adnp	UTSW	2	168,026,918 (GRCm39)	missense	possibly damaging	0.91
R9737:Adnp	UTSW	2	168,026,918 (GRCm39)	missense	possibly damaging	0.91

Predicted Primers

Posted On

2014-01-15