Mutagenetix > Incidental Mutation

Incidental Mutation 'R7949:Anp32a'

649470

Institutional Source

Beutler Lab

Gene Symbol

Anp32a

Ensembl Gene

ENSMUSG00000032249

Gene Name

acidic nuclear phosphoprotein 32 family member A

Synonyms

pp32, Anp32

MMRRC Submission

045994-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7949 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

62248637-62286084 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 62280948 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 170 (E170G)

Ref Sequence

ENSEMBL: ENSMUSP00000082652 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000085519] [ENSMUST00000128636] [ENSMUST00000135395]

AlphaFold

O35381

PDB Structure

Structure of the Leucine-Rich Repeat domain of LANP [SOLUTION NMR]

Predicted Effect

unknown
Transcript: ENSMUST00000085519
AA Change: E170G

SMART Domains

Protein: ENSMUSP00000082652
Gene: ENSMUSG00000032249
AA Change: E170G

Domain	Start	End	E-Value	Type
Pfam:LRR_4	64	107	5.2e-9	PFAM
Pfam:LRR_8	64	125	1.9e-9	PFAM
LRRcap	128	146	3.19e-2	SMART
coiled coil region	167	199	N/A	INTRINSIC

Predicted Effect

unknown
Transcript: ENSMUST00000128636
AA Change: E173G

SMART Domains

Protein: ENSMUSP00000123574
Gene: ENSMUSG00000032249
AA Change: E173G

Domain	Start	End	E-Value	Type
Pfam:LRR_8	67	128	3.1e-10	PFAM
Pfam:LRR_4	77	111	3e-8	PFAM
Pfam:LRR_6	90	110	7.2e-6	PFAM
Pfam:LRR_7	91	107	9.5e-4	PFAM
Pfam:LRR_1	92	115	1.7e-4	PFAM
LRRcap	131	149	3.19e-2	SMART
coiled coil region	170	198	N/A	INTRINSIC

Predicted Effect

unknown
Transcript: ENSMUST00000135395
AA Change: E156G

SMART Domains

Protein: ENSMUSP00000122165
Gene: ENSMUSG00000032249
AA Change: E156G

Domain	Start	End	E-Value	Type
Pfam:LRR_8	50	111	4.9e-10	PFAM
Pfam:LRR_6	73	93	9e-6	PFAM
Pfam:LRR_7	74	90	1.2e-3	PFAM
Pfam:LRR_1	75	98	2.2e-4	PFAM
LRRcap	114	132	3.19e-2	SMART
coiled coil region	153	185	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000156461

SMART Domains

Protein: ENSMUSP00000115293
Gene: ENSMUSG00000032249

Domain	Start	End	E-Value	Type
Pfam:LRR_9	5	138	8e-13	PFAM
Pfam:LRR_4	60	104	9.7e-10	PFAM
Pfam:LRR_8	60	121	8.6e-10	PFAM
Pfam:LRR_4	84	129	2.8e-9	PFAM
Pfam:LRR_1	85	106	1.4e-3	PFAM

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.9%

Validation Efficiency

100% (47/47)

MGI Phenotype

PHENOTYPE: Homozygous mutant mice are viable, fertile, behaviorally normal, and show no defects of the central nervous system. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrv1	G	A	13: 81,303,353 (GRCm39)	T6111M	probably damaging	Het
Adprhl1	T	G	8: 13,274,225 (GRCm39)	R844S	possibly damaging	Het
Aldh1b1	A	G	4: 45,802,807 (GRCm39)	E115G	possibly damaging	Het
Arhgap27	A	G	11: 103,228,595 (GRCm39)	S349P	probably damaging	Het
Asns	T	A	6: 7,685,328 (GRCm39)	I110F	probably damaging	Het
Atad3a	T	C	4: 155,833,152 (GRCm39)	H437R	possibly damaging	Het
Atl2	C	A	17: 80,167,289 (GRCm39)	R244L	probably damaging	Het
Bcl2l14	A	T	6: 134,407,083 (GRCm39)	D222V	probably damaging	Het
Ccdc102a	G	T	8: 95,631,913 (GRCm39)	Q498K	probably damaging	Het
Cdc14b	T	C	13: 64,338,212 (GRCm39)		probably null	Het
Cdcp3	G	A	7: 130,895,324 (GRCm39)		probably null	Het
Cep162	T	A	9: 87,088,901 (GRCm39)	M994L	probably benign	Het
Ddx18	A	G	1: 121,483,047 (GRCm39)	Y580H	probably damaging	Het
Entpd6	C	A	2: 150,612,197 (GRCm39)		probably null	Het
Fer	T	A	17: 64,440,503 (GRCm39)	S707T	probably damaging	Het
Gabra6	A	G	11: 42,207,826 (GRCm39)	V215A	probably benign	Het
Gm20671	A	G	5: 32,977,288 (GRCm39)	V142A	probably benign	Het
Gtf3c1	G	T	7: 125,250,253 (GRCm39)	N1439K	probably benign	Het
Igbp1b	T	C	6: 138,635,414 (GRCm39)	K10R	probably benign	Het
Ighv5-8	TATATATATATATATATATATATA	TATATATATATATATATATATATATA	12: 113,618,563 (GRCm39)		probably null	Het
Igkv12-44	A	T	6: 69,791,874 (GRCm39)	S30T	probably benign	Het
Immt	A	T	6: 71,851,327 (GRCm39)	R563*	probably null	Het
Jakmip1	A	T	5: 37,339,492 (GRCm39)	Q1231L	probably damaging	Het
Jsrp1	T	C	10: 80,647,906 (GRCm39)	T51A	probably benign	Het
Krtap31-1	A	G	11: 99,799,144 (GRCm39)	T116A	possibly damaging	Het
Lrp8	T	A	4: 107,660,524 (GRCm39)	D61E	probably damaging	Het
Mark2	T	C	19: 7,262,081 (GRCm39)	D311G	probably benign	Het
Men1	C	T	19: 6,388,323 (GRCm39)	S314L	possibly damaging	Het
Nxpe2	T	C	9: 48,234,397 (GRCm39)	N290S	possibly damaging	Het
Or2f2	T	C	6: 42,767,588 (GRCm39)	V205A	possibly damaging	Het
Or5b105	T	A	19: 13,080,610 (GRCm39)		probably null	Het
Pcolce2	A	T	9: 95,576,688 (GRCm39)	T320S	probably benign	Het
Phc2	C	T	4: 128,603,401 (GRCm39)	T177M	probably damaging	Het
Phf21b	G	T	15: 84,676,036 (GRCm39)	P337H	probably damaging	Het
Pinlyp	G	T	7: 24,245,375 (GRCm39)	T15K	probably damaging	Het
Ppox	A	T	1: 171,105,521 (GRCm39)	S307R	probably benign	Het
Ptk7	T	A	17: 46,897,387 (GRCm39)	E315V	possibly damaging	Het
Pxk	T	C	14: 8,144,233 (GRCm38)	I327T	probably damaging	Het
Rabgap1	A	T	2: 37,453,491 (GRCm39)	K973I	probably benign	Het
Rbbp8	A	T	18: 11,851,892 (GRCm39)	I238L	probably benign	Het
Runx2	T	A	17: 45,046,442 (GRCm39)	D109V	possibly damaging	Het
Serpinb6a	G	A	13: 34,107,003 (GRCm39)	S183L	probably benign	Het
Slco1a8	C	A	6: 141,939,991 (GRCm39)	G171C	probably damaging	Het
Sptlc3	T	C	2: 139,467,795 (GRCm39)	I451T	possibly damaging	Het
Sugp1	A	T	8: 70,509,153 (GRCm39)	Y142F	possibly damaging	Het
Sumf2	T	C	5: 129,881,759 (GRCm39)	F98S	probably damaging	Het
Tmem120a	C	T	5: 135,771,220 (GRCm39)	E39K	possibly damaging	Het
Tnxb	C	T	17: 34,936,103 (GRCm39)	P2680L	probably damaging	Het
Zfp78	C	G	7: 6,382,365 (GRCm39)	R472G	possibly damaging	Het

Other mutations in Anp32a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00655:Anp32a	APN	9	62,278,994 (GRCm39)	splice site	probably benign
IGL01799:Anp32a	APN	9	62,279,092 (GRCm39)	missense	probably benign	0.06
IGL02066:Anp32a	APN	9	62,284,615 (GRCm39)	unclassified	probably benign
IGL02536:Anp32a	APN	9	62,279,110 (GRCm39)	missense	probably damaging	0.98
R1608:Anp32a	UTSW	9	62,279,375 (GRCm39)	missense	probably damaging	0.99
R2149:Anp32a	UTSW	9	62,279,084 (GRCm39)	missense	probably benign	0.19
R5287:Anp32a	UTSW	9	62,249,275 (GRCm39)	missense	possibly damaging	0.50
R5381:Anp32a	UTSW	9	62,279,459 (GRCm39)	missense	probably damaging	0.97
R5403:Anp32a	UTSW	9	62,249,275 (GRCm39)	missense	possibly damaging	0.50
R5427:Anp32a	UTSW	9	62,284,598 (GRCm39)	unclassified	probably benign
R6856:Anp32a	UTSW	9	62,279,397 (GRCm39)	missense	possibly damaging	0.95
R6906:Anp32a	UTSW	9	62,284,851 (GRCm39)	unclassified	probably benign
R8134:Anp32a	UTSW	9	62,284,863 (GRCm39)	missense	unknown
R9501:Anp32a	UTSW	9	62,282,019 (GRCm39)	missense	unknown

Predicted Primers

PCR Primer
(F):5'- GCCTTTCTCCACTTGCAGAAG -3'
(R):5'- TCCCAAGGGATCTGACATTGAC -3'

Sequencing Primer
(F):5'- TCTCCACTTGCAGAAGAAGTTAGAG -3'
(R):5'- GGGATCTGACATTGACTATAGCCC -3'

Posted On

2020-09-15