Mutagenetix > Incidental Mutation

Incidental Mutation 'R8970:Adnp'

682992

Institutional Source

Beutler Lab

Gene Symbol

Adnp

Ensembl Gene

ENSMUSG00000051149

Gene Name

activity-dependent neuroprotective protein

Synonyms

MMRRC Submission

068804-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R8970 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

168022906-168049032 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 168031290 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 7 (N7S)

Ref Sequence

ENSEMBL: ENSMUSP00000085316 (fasta)

Gene Model

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

AlphaFold

Q9Z103

Predicted Effect

possibly damaging
Transcript: ENSMUST00000057793
AA Change: N7S

PolyPhen 2 Score 0.911 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000056809
Gene: ENSMUSG00000051149
AA Change: N7S

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

possibly damaging
Transcript: ENSMUST00000088001
AA Change: N7S

PolyPhen 2 Score 0.911 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000085316
Gene: ENSMUSG00000051149
AA Change: N7S

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: 99.9%
10x: 99.7%
20x: 99.2%

Validation Efficiency

99% (69/70)

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: 74 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A2ml1	A	G	6: 128,545,726 (GRCm39)	V467A	probably damaging	Het
Abca2	T	C	2: 25,335,728 (GRCm39)	V2113A	probably benign	Het
Adam10	A	G	9: 70,655,458 (GRCm39)	N309D	probably benign	Het
Adcy1	T	A	11: 7,099,983 (GRCm39)	W698R	probably benign	Het
Ankar	A	G	1: 72,691,496 (GRCm39)		probably null	Het
Ankrd34b	T	A	13: 92,575,590 (GRCm39)	I274K	probably benign	Het
Apela	A	T	8: 65,489,601 (GRCm39)	L6H	unknown	Het
Ash1l	T	C	3: 88,976,307 (GRCm39)	I2629T	probably benign	Het
Auts2	C	T	5: 132,287,791 (GRCm39)	R64K	possibly damaging	Het
Bms1	A	G	6: 118,369,292 (GRCm39)	V1003A	possibly damaging	Het
C2cd3	T	C	7: 100,068,971 (GRCm39)	V555A		Het
C2cd6	T	A	1: 59,108,895 (GRCm39)	H252L	possibly damaging	Het
Capn3	G	T	2: 120,294,566 (GRCm39)	K71N	possibly damaging	Het
Chct1	A	G	11: 85,069,246 (GRCm39)	E198G	probably benign	Het
Clec2l	C	A	6: 38,657,122 (GRCm39)	T195K	possibly damaging	Het
Col27a1	T	C	4: 63,134,105 (GRCm39)	S15P	unknown	Het
Coro2b	T	C	9: 62,333,809 (GRCm39)		probably benign	Het
Crocc2	A	T	1: 93,116,687 (GRCm39)	T233S	probably benign	Het
Ddb1	A	G	19: 10,585,808 (GRCm39)	Q174R	probably benign	Het
Denr	C	T	5: 124,055,279 (GRCm39)	P48L	probably damaging	Het
Dusp26	A	G	8: 31,584,232 (GRCm39)	Y113C	probably damaging	Het
Dusp9	TAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCTAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCTAAAGCGGAGGCCAAAGCGGAGGCCAAAG	TAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCTAAAGCGGAGGCCAAAGCGGAGGCCAAAG	X: 72,684,217 (GRCm39)		probably benign	Het
Evi5l	A	G	8: 4,236,154 (GRCm39)		probably benign	Het
Fgf2	G	T	3: 37,458,767 (GRCm39)	V96F	probably benign	Het
Gpr139	A	G	7: 118,744,034 (GRCm39)	Y184H	probably damaging	Het
Gtf3c1	A	C	7: 125,272,227 (GRCm39)		probably benign	Het
Gucy1b2	A	G	14: 62,656,664 (GRCm39)	V231A	possibly damaging	Het
Gucy2g	T	C	19: 55,191,478 (GRCm39)	E991G	possibly damaging	Het
Gvin1	A	T	7: 105,762,647 (GRCm39)	H607Q	probably damaging	Het
Hal	T	C	10: 93,325,036 (GRCm39)	V15A	probably damaging	Het
Hes3	A	G	4: 152,376,036 (GRCm39)		probably null	Het
Il11	A	G	7: 4,779,181 (GRCm39)	L72P	probably damaging	Het
Iqsec3	T	A	6: 121,366,528 (GRCm39)	I785F	probably damaging	Het
Jup	C	T	11: 100,270,391 (GRCm39)	C372Y	probably damaging	Het
Lrpprc	T	A	17: 85,074,483 (GRCm39)	T475S	probably damaging	Het
Lrrc63	T	A	14: 75,362,631 (GRCm39)	T300S	unknown	Het
Lsamp	A	T	16: 41,994,528 (GRCm39)	I331F	possibly damaging	Het
Ltn1	A	T	16: 87,212,926 (GRCm39)	I545K	probably benign	Het
Mab21l4	G	C	1: 93,087,533 (GRCm39)	P107A	probably benign	Het
Med13l	G	A	5: 118,883,164 (GRCm39)	R1341H	probably damaging	Het
Msh4	T	A	3: 153,575,369 (GRCm39)	K669*	probably null	Het
Myo10	T	A	15: 25,803,467 (GRCm39)	L1558H	possibly damaging	Het
Ncbp1	G	A	4: 46,170,023 (GRCm39)	V699M	probably damaging	Het
Or12k8	T	A	2: 36,975,478 (GRCm39)	Y94F	probably benign	Het
Or56b1b	A	G	7: 108,164,997 (GRCm39)	S2P	probably benign	Het
Or5b114-ps1	T	G	19: 13,353,117 (GRCm39)	S264A	unknown	Het
Or5b99	T	A	19: 12,976,353 (GRCm39)	M1K	probably null	Het
Parpbp	G	A	10: 87,962,186 (GRCm39)	R165W	probably damaging	Het
Pcdhgb7	T	A	18: 37,885,631 (GRCm39)	M267K	probably benign	Het
Pitx3	T	A	19: 46,125,540 (GRCm39)	H68L	possibly damaging	Het
Ppfia4	A	G	1: 134,252,289 (GRCm39)	L395P	probably damaging	Het
Pramel42	T	C	5: 94,685,645 (GRCm39)	V435A	probably benign	Het
Ptprh	T	C	7: 4,583,944 (GRCm39)	D216G	possibly damaging	Het
Ptprs	A	G	17: 56,730,353 (GRCm39)	S1174P	possibly damaging	Het
Shf	A	G	2: 122,187,654 (GRCm39)	S51P	probably benign	Het
Sinhcaf	A	T	6: 148,834,624 (GRCm39)	F2I	probably damaging	Het
Slc19a3	A	T	1: 83,000,822 (GRCm39)	L65Q	probably damaging	Het
Srgap2	G	A	1: 131,226,104 (GRCm39)	L390F		Het
Srpk1	T	C	17: 28,818,493 (GRCm39)	T448A	probably benign	Het
Stat5a	A	G	11: 100,771,353 (GRCm39)	D612G	probably benign	Het
Supt4a	A	T	11: 87,633,645 (GRCm39)	E67V	probably benign	Het
Tango6	T	A	8: 107,415,871 (GRCm39)	C231S	probably damaging	Het
Th	A	G	7: 142,446,796 (GRCm39)	L490P	probably damaging	Het
Tpcn1	C	T	5: 120,682,518 (GRCm39)	G497S	probably damaging	Het
Trim10	A	T	17: 37,184,168 (GRCm39)	I254F	probably benign	Het
Tyw1	G	A	5: 130,298,065 (GRCm39)	R202Q	probably damaging	Het
Vmn2r124	G	T	17: 18,294,439 (GRCm39)	R842L	probably benign	Het
Vmn2r56	T	C	7: 12,428,632 (GRCm39)	R545G	probably damaging	Het
Vmn2r84	T	C	10: 130,222,244 (GRCm39)	T659A	probably damaging	Het
Vps13c	T	C	9: 67,852,803 (GRCm39)	M2361T	probably benign	Het
Zfp217	T	C	2: 169,956,997 (GRCm39)	D667G	possibly damaging	Het
Zfp952	T	G	17: 33,221,810 (GRCm39)	C96W	probably benign	Het
Zfp959	A	G	17: 56,204,836 (GRCm39)	Q291R	possibly damaging	Het
Zscan4-ps3	T	C	7: 11,344,414 (GRCm39)	V124A	probably benign	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
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
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'- AGTGAACCATCTTTGCCCATGG -3'
(R):5'- GACTTGTGTGCCTCGACTTG -3'

Sequencing Primer
(F):5'- CTTTGCCCATGGACACAGTAATGG -3'
(R):5'- GCCTCGACTTGTGGTCTAAAATATC -3'

Posted On

2021-10-11