Mutagenetix > Incidental Mutation

Incidental Mutation 'R7176:Adnp'

558605

Institutional Source

Beutler Lab

Gene Symbol

Adnp

Ensembl Gene

ENSMUSG00000051149

Gene Name

activity-dependent neuroprotective protein

Synonyms

MMRRC Submission

045267-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7176 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

168022906-168049032 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 168024578 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Aspartic acid at position 906 (N906D)

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: N906D

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000056809
Gene: ENSMUSG00000051149
AA Change: N906D

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: N906D

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000085316
Gene: ENSMUSG00000051149
AA Change: N906D

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 98.9%

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: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc10	G	T	17: 46,635,203 (GRCm39)	H267N	probably benign	Het
Abtb2	A	G	2: 103,539,720 (GRCm39)	D695G	probably benign	Het
Adam21	C	T	12: 81,607,022 (GRCm39)	D247N	possibly damaging	Het
Ankrd17	A	T	5: 90,416,594 (GRCm39)	H1079Q	probably damaging	Het
Aqp3	T	A	4: 41,095,202 (GRCm39)	N60Y	probably damaging	Het
Art4	T	G	6: 136,834,166 (GRCm39)	T26P	probably benign	Het
Arvcf	T	C	16: 18,218,477 (GRCm39)	L553P	probably damaging	Het
Asxl1	T	A	2: 153,243,908 (GRCm39)	I1487N	probably damaging	Het
Capn3	A	T	2: 120,334,973 (GRCm39)	Y820F	possibly damaging	Het
Catip	A	G	1: 74,401,941 (GRCm39)	T39A	probably damaging	Het
Ccdc168	A	T	1: 44,099,506 (GRCm39)	S531T	probably benign	Het
Ccdc18	T	A	5: 108,315,972 (GRCm39)	C481S	probably benign	Het
Ccnf	A	G	17: 24,468,376 (GRCm39)	I7T	possibly damaging	Het
Cd86	CA	CAA	16: 36,426,917 (GRCm39)		probably null	Het
Cdkl4	A	T	17: 80,851,221 (GRCm39)	Y160*	probably null	Het
Celsr3	C	T	9: 108,722,961 (GRCm39)	P2783S	probably benign	Het
Cisd3	A	T	11: 97,576,959 (GRCm39)	D11V	probably benign	Het
Daxx	A	T	17: 34,132,292 (GRCm39)	H512L	unknown	Het
Dip2b	A	G	15: 100,067,199 (GRCm39)	H567R	probably damaging	Het
Dnah7c	C	A	1: 46,469,969 (GRCm39)	A18E	probably benign	Het
Eif3d	A	T	15: 77,847,434 (GRCm39)	V268D	probably damaging	Het
Eif4g3	T	A	4: 137,898,497 (GRCm39)	H1089Q	probably damaging	Het
Fmnl2	A	G	2: 53,004,162 (GRCm39)	M625V	unknown	Het
Foxn1	T	C	11: 78,251,693 (GRCm39)	R513G	possibly damaging	Het
Gemin5	C	T	11: 58,056,828 (GRCm39)	V134I	probably benign	Het
Gtf2h3	A	G	5: 124,728,433 (GRCm39)	R161G	probably damaging	Het
Ice1	A	G	13: 70,772,525 (GRCm39)		probably null	Het
Il1rl1	T	C	1: 40,485,766 (GRCm39)	Y306H	probably damaging	Het
Kbtbd7	A	T	14: 79,665,194 (GRCm39)	E342V	possibly damaging	Het
Kyat3	A	T	3: 142,443,600 (GRCm39)	K404N	possibly damaging	Het
Lins1	T	C	7: 66,363,553 (GRCm39)	W483R	probably benign	Het
Lipo2	A	G	19: 33,723,207 (GRCm39)	I194T	possibly damaging	Het
Mcm8	G	T	2: 132,661,992 (GRCm39)	A137S	probably benign	Het
Mdm1	C	A	10: 117,978,770 (GRCm39)	Q12K	probably damaging	Het
Mrgprb5	C	A	7: 47,818,059 (GRCm39)	L225F	possibly damaging	Het
Myh11	T	A	16: 14,033,690 (GRCm39)	H1068L		Het
Ngef	A	T	1: 87,408,417 (GRCm39)	V550E	possibly damaging	Het
Nrg1	G	A	8: 32,458,064 (GRCm39)	Q84*	probably null	Het
Obp2b	G	T	2: 25,627,760 (GRCm39)	V59L	possibly damaging	Het
Ocln	C	A	13: 100,651,590 (GRCm39)	G327C	probably damaging	Het
Ocln	A	C	13: 100,651,591 (GRCm39)	N326K	probably benign	Het
Or10ag55-ps1	C	T	2: 87,115,378 (GRCm39)	A248V	probably damaging	Het
Otogl	T	C	10: 107,614,772 (GRCm39)	D1960G	probably damaging	Het
Pik3c2a	T	C	7: 115,987,331 (GRCm39)	D530G	possibly damaging	Het
Plod1	A	T	4: 147,997,744 (GRCm39)	M655K	probably benign	Het
Ppp4r3b	A	G	11: 29,148,904 (GRCm39)	N449D	probably damaging	Het
Ppp6r3	G	T	19: 3,521,989 (GRCm39)	T563K	probably damaging	Het
Prepl	T	A	17: 85,376,454 (GRCm39)	L533F	probably benign	Het
Rbl1	G	A	2: 157,030,245 (GRCm39)	R421W	probably damaging	Het
Rrp15	G	A	1: 186,453,730 (GRCm39)	S239L	probably benign	Het
Runx2	G	A	17: 45,125,079 (GRCm39)	P80L	probably damaging	Het
Sbno1	A	G	5: 124,530,944 (GRCm39)	S815P	probably benign	Het
Scn7a	G	A	2: 66,506,632 (GRCm39)	T1419I	probably damaging	Het
Setdb1	A	G	3: 95,244,458 (GRCm39)		probably null	Het
Shpk	A	G	11: 73,113,814 (GRCm39)	H409R	probably benign	Het
Slamf6	A	C	1: 171,761,858 (GRCm39)	N93T	probably benign	Het
Slc27a4	A	G	2: 29,701,238 (GRCm39)	N343S	probably benign	Het
Slc35g1	T	A	19: 38,391,771 (GRCm39)	V351E	probably damaging	Het
Smcr8	A	T	11: 60,669,772 (GRCm39)	I307F	probably damaging	Het
Spats2l	T	C	1: 57,977,077 (GRCm39)	I305T	possibly damaging	Het
Speer4c1	T	C	5: 15,916,536 (GRCm39)	T144A	probably benign	Het
Tbl3	G	A	17: 24,919,732 (GRCm39)	T774I	probably benign	Het
Ush2a	A	G	1: 188,269,925 (GRCm39)	H1724R	probably benign	Het
Vcan	A	G	13: 89,837,055 (GRCm39)	S2830P	probably benign	Het
Vmn2r27	T	A	6: 124,168,995 (GRCm39)	I712F	probably benign	Het
Wdr59	T	G	8: 112,219,388 (GRCm39)	Q223P		Het
Zfp28	T	A	7: 6,386,456 (GRCm39)	C22S	possibly damaging	Het
Zfp536	T	G	7: 37,180,276 (GRCm39)		probably null	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
R1167:Adnp	UTSW	2	168,026,420 (GRCm39)	missense	probably benign	0.11
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
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

PCR Primer
(F):5'- GTGAAGCACCATCTTTCCAC -3'
(R):5'- GGCTGTTTGAAAATCACGATGAG -3'

Sequencing Primer
(F):5'- ATCTTGGTCTACCTCACTATCAGAG -3'
(R):5'- TTGAAAATCACGATGAGAAAGACTC -3'

Posted On

2019-06-26