Mutagenetix > Incidental Mutation

Incidental Mutation 'R9268:Adnp'

702663

Institutional Source

Beutler Lab

Gene Symbol

Adnp

Ensembl Gene

ENSMUSG00000051149

Gene Name

activity-dependent neuroprotective protein

Synonyms

MMRRC Submission

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R9268 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

168022906-168049032 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 168031233 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 26 (I26T)

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: I26T

PolyPhen 2 Score 0.861 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000056809
Gene: ENSMUSG00000051149
AA Change: I26T

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: I26T

PolyPhen 2 Score 0.861 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000085316
Gene: ENSMUSG00000051149
AA Change: I26T

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: 99.8%
20x: 99.2%

Validation Efficiency

100% (64/64)

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: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933434E20Rik	A	G	3: 89,969,030 (GRCm39)	T218A	possibly damaging	Het
Acadsb	C	T	7: 131,033,763 (GRCm39)	T260I	probably damaging	Het
Acap2	A	T	16: 30,955,392 (GRCm39)	V161E	probably damaging	Het
Alk	T	C	17: 72,181,190 (GRCm39)	T1367A	probably damaging	Het
Apoa5	A	T	9: 46,181,719 (GRCm39)	D265V	probably benign	Het
Asb15	G	A	6: 24,566,298 (GRCm39)	R417H	probably benign	Het
Atg2a	A	C	19: 6,291,905 (GRCm39)	H27P	probably damaging	Het
Bace1	G	T	9: 45,767,282 (GRCm39)		probably benign	Het
Camk1d	A	G	2: 5,303,901 (GRCm39)	S351P	probably benign	Het
Carf	C	A	1: 60,148,558 (GRCm39)	Q85K	possibly damaging	Het
Cdh19	A	G	1: 110,877,111 (GRCm39)	F76S	probably damaging	Het
Ces1b	A	C	8: 93,798,583 (GRCm39)	V201G	probably damaging	Het
Clk1	A	G	1: 58,458,882 (GRCm39)	L133S	unknown	Het
Clstn3	G	A	6: 124,433,880 (GRCm39)	L427F	probably damaging	Het
Col15a1	G	C	4: 47,288,200 (GRCm39)		probably benign	Het
Cyp2j11	A	T	4: 96,207,781 (GRCm39)		probably benign	Het
Dctn4	T	A	18: 60,659,304 (GRCm39)	M1K	probably null	Het
Dnah12	A	G	14: 26,571,255 (GRCm39)	K2788R	possibly damaging	Het
Dtna	T	A	18: 23,702,643 (GRCm39)	V58D	possibly damaging	Het
Egfr	T	A	11: 16,855,410 (GRCm39)	D898E	probably damaging	Het
Eif2ak4	G	C	2: 118,271,701 (GRCm39)		probably null	Het
Enam	A	G	5: 88,640,778 (GRCm39)	M147V	probably benign	Het
Etaa1	A	T	11: 17,896,419 (GRCm39)	V566E	probably damaging	Het
F13a1	C	T	13: 37,076,910 (GRCm39)	G593D	probably benign	Het
Far2	C	T	6: 148,060,418 (GRCm39)	T257I	probably benign	Het
Fat4	C	T	3: 38,942,396 (GRCm39)	R430C	probably damaging	Het
Fhod3	T	C	18: 24,842,832 (GRCm39)		probably null	Het
Fuca2	G	A	10: 13,390,563 (GRCm39)	W453*	probably null	Het
Hjv	T	C	3: 96,435,881 (GRCm39)	F380L	probably benign	Het
Hycc2	T	C	1: 58,591,361 (GRCm39)	D94G	probably damaging	Het
Ift70a1	A	T	2: 75,811,279 (GRCm39)	V268E	probably benign	Het
Igkv4-72	A	T	6: 69,203,980 (GRCm39)	Y70*	probably null	Het
Kdm1b	A	C	13: 47,217,705 (GRCm39)	N388T	probably benign	Het
Klri2	A	T	6: 129,710,037 (GRCm39)	W188R	probably damaging	Het
Lama4	A	G	10: 38,950,688 (GRCm39)	Y997C	probably damaging	Het
Lrrc73	T	C	17: 46,565,535 (GRCm39)	S89P	probably benign	Het
Macf1	T	C	4: 123,367,582 (GRCm39)	E2393G	probably damaging	Het
Mfsd14b	A	G	13: 65,222,855 (GRCm39)	L265P	probably damaging	Het
Msantd5f3	T	C	4: 73,575,373 (GRCm39)	S351P	probably damaging	Het
Myo3b	A	C	2: 70,257,305 (GRCm39)	*1334C	probably null	Het
Nfatc4	A	T	14: 56,064,685 (GRCm39)	I391F	probably damaging	Het
Nlgn1	A	T	3: 25,490,548 (GRCm39)	M393K	probably damaging	Het
Or5h17	T	G	16: 58,820,083 (GRCm39)	F12V	probably damaging	Het
Or9i14	A	T	19: 13,792,388 (GRCm39)	C189S	probably damaging	Het
Otogl	A	T	10: 107,616,917 (GRCm39)	C1787S	probably damaging	Het
Papola	A	G	12: 105,766,032 (GRCm39)	E44G	probably benign	Het
Parp1	A	G	1: 180,415,509 (GRCm39)	K443E	possibly damaging	Het
Pcdh15	A	T	10: 74,479,455 (GRCm39)	E522V	probably benign	Het
Peli2	A	G	14: 48,518,927 (GRCm39)	E225G	probably benign	Het
Pus7l	T	C	15: 94,431,445 (GRCm39)	I395V	probably benign	Het
Rmi1	T	C	13: 58,555,853 (GRCm39)	I34T	probably damaging	Het
Rnf220	A	G	4: 117,346,833 (GRCm39)	I193T	probably benign	Het
Rpgrip1l	T	C	8: 92,007,355 (GRCm39)	T412A	probably benign	Het
Shisa7	T	G	7: 4,837,333 (GRCm39)	D244A	probably damaging	Het
Slco3a1	T	C	7: 73,952,946 (GRCm39)	T538A	probably benign	Het
Sptlc1	A	T	13: 53,512,872 (GRCm39)	I162N	probably damaging	Het
Ssrp1	C	A	2: 84,870,606 (GRCm39)		probably benign	Het
Sytl2	A	G	7: 90,034,359 (GRCm39)	N523S	probably benign	Het
Tcf20	A	G	15: 82,740,705 (GRCm39)	S249P	probably benign	Het
Thumpd3	T	A	6: 113,043,819 (GRCm39)	F411L	probably damaging	Het
Ttn	A	G	2: 76,768,079 (GRCm39)	W3007R	unknown	Het
Ulbp1	A	T	10: 7,396,392 (GRCm39)	L295Q	unknown	Het
Vmn1r29	T	A	6: 58,284,577 (GRCm39)	V99E	probably damaging	Het
Wdr47	T	C	3: 108,525,812 (GRCm39)	F112L	probably benign	Het
Wnk2	A	G	13: 49,235,507 (GRCm39)	V636A	possibly damaging	Het
Zswim8	T	C	14: 20,761,908 (GRCm39)	L227P	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
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
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
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'- AGATGAACAGGCTTTCAGGG -3'
(R):5'- GAATTCTCAACTGAGGGAGCC -3'

Sequencing Primer
(F):5'- TGAAGTAAGCTATCCTACGTGAG -3'
(R):5'- CCAGGGTTTGGGATCCTATCATCAG -3'

Posted On

2022-03-25