Mutagenetix > Incidental Mutation

Incidental Mutation 'R1608:Anp32a'

176633

Institutional Source

Beutler Lab

Gene Symbol

Anp32a

Ensembl Gene

ENSMUSG00000032249

Gene Name

acidic nuclear phosphoprotein 32 family member A

Synonyms

pp32, Anp32

MMRRC Submission

039645-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1608 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

62248637-62286084 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 62279375 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 74 (D74G)

Gene Model

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

AlphaFold

O35381

Predicted Effect

probably benign
Transcript: ENSMUST00000085519
AA Change: D79G

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000082652
Gene: ENSMUSG00000032249
AA Change: D79G

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

noncoding transcript
Transcript: ENSMUST00000126451

Predicted Effect

probably benign
Transcript: ENSMUST00000128636
AA Change: D82G

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

SMART Domains

Protein: ENSMUSP00000123574
Gene: ENSMUSG00000032249
AA Change: D82G

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

noncoding transcript
Transcript: ENSMUST00000129026

Predicted Effect

probably benign
Transcript: ENSMUST00000135395
AA Change: D65G

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000122165
Gene: ENSMUSG00000032249
AA Change: D65G

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

noncoding transcript
Transcript: ENSMUST00000136603

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000138226

Predicted Effect

probably damaging
Transcript: ENSMUST00000156461
AA Change: D74G

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000115293
Gene: ENSMUSG00000032249
AA Change: D74G

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000145679

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000141277

Coding Region Coverage

1x: 99.0%
3x: 98.1%
10x: 95.5%
20x: 89.7%

Validation Efficiency

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: 46 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts15	A	G	9: 30,813,775 (GRCm39)	S797P	probably damaging	Het
Akap9	T	C	5: 4,011,783 (GRCm39)	Y829H	probably damaging	Het
B3gat1	T	C	9: 26,663,112 (GRCm39)	I13T	probably damaging	Het
Cbfa2t3	A	T	8: 123,374,448 (GRCm39)	V99D	probably damaging	Het
Celsr2	C	T	3: 108,309,799 (GRCm39)	C1600Y	probably damaging	Het
Ddx31	T	A	2: 28,749,078 (GRCm39)	N291K	probably damaging	Het
Dennd1a	T	G	2: 37,742,446 (GRCm39)	M3L	probably benign	Het
Dnah12	C	T	14: 26,488,147 (GRCm39)	P1017L	probably damaging	Het
Dnajc6	A	T	4: 101,456,364 (GRCm39)	D86V	probably damaging	Het
Evx2	T	G	2: 74,488,195 (GRCm39)	K208N	probably damaging	Het
F13a1	A	G	13: 37,052,785 (GRCm39)	V718A	probably damaging	Het
Fcho2	T	C	13: 98,862,706 (GRCm39)	D757G	probably benign	Het
Fmnl2	A	G	2: 52,995,549 (GRCm39)	E424G	probably damaging	Het
Fryl	C	T	5: 73,232,094 (GRCm39)	W424*	probably null	Het
Gata3	G	T	2: 9,879,579 (GRCm39)	Y97*	probably null	Het
Gm15446	T	A	5: 110,090,323 (GRCm39)	C192S	probably damaging	Het
Hdac10	A	T	15: 89,009,521 (GRCm39)	D470E	probably benign	Het
Ier2	A	G	8: 85,389,055 (GRCm39)	L109P	probably benign	Het
Iftap	T	C	2: 101,440,916 (GRCm39)	E29G	probably damaging	Het
Kcnh2	T	C	5: 24,527,217 (GRCm39)	T559A	probably benign	Het
Khk	C	T	5: 31,087,938 (GRCm39)	A204V	probably damaging	Het
Kndc1	T	A	7: 139,507,321 (GRCm39)	M1169K	possibly damaging	Het
Krtap31-1	A	G	11: 99,798,919 (GRCm39)	S41G	probably benign	Het
Nabp1	T	C	1: 51,512,162 (GRCm39)		probably null	Het
Nphp3	A	G	9: 103,913,039 (GRCm39)	D939G	probably benign	Het
Or5e1	A	T	7: 108,354,309 (GRCm39)	N82I	probably damaging	Het
Plcg2	T	C	8: 118,340,974 (GRCm39)	I1089T	possibly damaging	Het
Ptk2	A	T	15: 73,134,424 (GRCm39)	D558E	probably damaging	Het
Serpinb6d	A	G	13: 33,853,112 (GRCm39)	D168G	probably benign	Het
Shisa8	G	A	15: 82,092,756 (GRCm39)	P189L	probably damaging	Het
Shkbp1	A	G	7: 27,054,204 (GRCm39)	V89A	probably benign	Het
Slc40a1	C	T	1: 45,950,457 (GRCm39)	A332T	probably damaging	Het
Slc44a3	A	T	3: 121,291,496 (GRCm39)	Y373*	probably null	Het
Slf2	T	C	19: 44,937,440 (GRCm39)	V722A	probably benign	Het
Spanxn4	A	G	12: 62,734,624 (GRCm39)		noncoding transcript	Het
Stag3	T	A	5: 138,296,901 (GRCm39)		probably null	Het
Tanc1	T	C	2: 59,628,038 (GRCm39)	I612T	possibly damaging	Het
Thbs2	T	A	17: 14,906,043 (GRCm39)	M286L	probably benign	Het
Top1	T	A	2: 160,545,515 (GRCm39)	N294K	probably benign	Het
Tpr	T	G	1: 150,302,644 (GRCm39)	L1381V	probably damaging	Het
Trpm8	T	G	1: 88,254,154 (GRCm39)	S126A	probably benign	Het
Ttc41	A	G	10: 86,611,857 (GRCm39)	Y1075C	probably damaging	Het
Ubox5	C	T	2: 130,439,376 (GRCm39)	G418D	probably benign	Het
Vmn1r67	T	C	7: 10,180,907 (GRCm39)	V57A	possibly damaging	Het
Zbtb5	T	C	4: 44,993,500 (GRCm39)	H628R	probably damaging	Het
Zfp810	T	C	9: 22,190,216 (GRCm39)	I231V	probably benign	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
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
R7949:Anp32a	UTSW	9	62,280,948 (GRCm39)	missense	unknown
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'- GGTGAAAGAGCTGGTCCTGGATAAC -3'
(R):5'- TGGTCCAACTGAATTCTCCGTGAAC -3'

Sequencing Primer
(F):5'- AGCTGGTCCTGGATAACTGTAAG -3'
(R):5'- TGTTAGCTCACAGCACAGG -3'

Posted On

2014-04-24