Mutagenetix > Incidental Mutations

Incidental Mutation 'R5781:Pnn'

447748

Institutional Source

Beutler Lab

Gene Symbol

Pnn

Ensembl Gene

ENSMUSG00000020994

Gene Name

pinin

Synonyms

D12Ertd512e

MMRRC Submission

043378-MU

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R5781 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

59066884-59073998 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 59071819 bp

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 396 (V396A)

Ref Sequence

ENSEMBL: ENSMUSP00000021381 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000021381] [ENSMUST00000219176]

Predicted Effect

probably damaging
Transcript: ENSMUST00000021381
AA Change: V396A

PolyPhen 2 Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000021381
Gene: ENSMUSG00000020994
AA Change: V396A

Domain	Start	End	E-Value	Type
Pfam:Pinin_SDK_N	1	132	3.7e-61	PFAM
Pfam:Pinin_SDK_memA	136	261	7.8e-38	PFAM
coiled coil region	290	374	N/A	INTRINSIC
low complexity region	451	508	N/A	INTRINSIC
low complexity region	514	525	N/A	INTRINSIC
internal_repeat_1	559	572	9.16e-7	PROSPERO
internal_repeat_1	563	576	9.16e-7	PROSPERO
low complexity region	579	647	N/A	INTRINSIC
low complexity region	651	665	N/A	INTRINSIC
low complexity region	671	682	N/A	INTRINSIC
low complexity region	695	726	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000217676

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000217773

Predicted Effect

probably benign
Transcript: ENSMUST00000219176

Coding Region Coverage

1x: 99.4%
3x: 98.8%
10x: 97.6%
20x: 96.2%

Validation Efficiency

MGI Phenotype

PHENOTYPE: Mice homozygous for a knock-out allele die prior to implantation. Mice homozygous for a hypomorphic allele show complete perinatal lethality, edema, axial skeletal abnormalities, cardiac outflow tract defects, cleft palate, and impaired development of the dorsal dermis and brown fat tissue. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca9	A	G	11: 110,101,987	L1617P	probably damaging	Het
Abhd16b	T	C	2: 181,494,154	V283A	probably damaging	Het
Adamts19	G	T	18: 58,837,968	R208L	possibly damaging	Het
Adamts4	T	C	1: 171,251,015	I56T	possibly damaging	Het
Alpk1	A	C	3: 127,680,035	V773G	possibly damaging	Het
Arhgap10	G	T	8: 77,450,707	Q100K	possibly damaging	Het
Arhgef18	T	A	8: 3,439,439		probably null	Het
Asb15	A	T	6: 24,564,378	H277L	probably benign	Het
Ascc3	T	A	10: 50,637,978	V291E	probably damaging	Het
Cnot6l	A	C	5: 96,086,165	V329G	probably benign	Het
Col14a1	A	G	15: 55,423,512	T910A	unknown	Het
Dhdds	G	A	4: 133,996,830	L58F	probably damaging	Het
Dsc2	A	G	18: 20,032,510	I846T	probably benign	Het
Evc	A	T	5: 37,326,570	S129T	probably damaging	Het
Fetub	C	T	16: 22,932,331	R143C	probably damaging	Het
Fyco1	A	G	9: 123,794,833	V1377A	probably damaging	Het
Haus6	C	T	4: 86,601,263	A203T	possibly damaging	Het
Hkdc1	T	G	10: 62,417,933	D23A	probably damaging	Het
Hpdl	C	T	4: 116,820,578	V229M	probably damaging	Het
Hspa12a	T	C	19: 58,822,086	Y175C	probably damaging	Het
Hyal1	C	T	9: 107,577,667	P59S	probably damaging	Het
Itpr1	G	A	6: 108,510,738	C2374Y	probably benign	Het
Kmt2a	A	T	9: 44,847,842	Y114*	probably null	Het
Mc2r	A	T	18: 68,407,395	Y276N	possibly damaging	Het
Mc2r	A	T	18: 68,407,397	I275K	probably damaging	Het
Mlycd	A	G	8: 119,410,280	Y413C	probably damaging	Het
Mocs2	T	G	13: 114,820,919	S86R	probably damaging	Het
Msx2	C	A	13: 53,472,608	A35S	probably benign	Het
Olfr770	A	T	10: 129,133,147	L207H	probably damaging	Het
Pla2g4f	C	A	2: 120,305,023	S390I	probably damaging	Het
Plcl1	C	T	1: 55,695,989	A163V	possibly damaging	Het
Rbmxl1	G	A	8: 78,505,641		probably benign	Het
Recql	G	T	6: 142,365,618		probably null	Het
Rev3l	T	A	10: 39,823,093	N1195K	probably benign	Het
Rfwd3	G	A	8: 111,273,084	T754M	probably benign	Het
Sctr	A	G	1: 120,031,620	T98A	probably damaging	Het
Sdk1	T	A	5: 141,936,048	D6E	probably benign	Het
Smpdl3a	T	A	10: 57,807,938	I264K	possibly damaging	Het
Spag6	A	G	2: 18,731,993	I154V	probably benign	Het
Tbc1d12	A	C	19: 38,882,683	T297P	probably benign	Het
Tgfb1	A	G	7: 25,696,960	D226G	probably benign	Het
Ubr3	G	T	2: 70,016,244		probably null	Het
Ubr4	T	C	4: 139,468,096	Y1210H	probably damaging	Het
Ubr5	T	C	15: 38,006,541	T1157A	probably benign	Het
Vmn2r120	T	G	17: 57,524,938	T284P	probably benign	Het
Vps13b	G	T	15: 35,794,035	A2286S	probably damaging	Het
Zcchc14	A	T	8: 121,604,593		probably benign	Het
Zfr2	T	A	10: 81,243,713	V362E	probably benign	Het

Other mutations in Pnn

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02267:Pnn	APN	12	59070209	missense	probably damaging	1.00
R0350:Pnn	UTSW	12	59067117	critical splice donor site	probably null
R1853:Pnn	UTSW	12	59071613	missense	probably damaging	0.99
R1854:Pnn	UTSW	12	59071613	missense	probably damaging	0.99
R4287:Pnn	UTSW	12	59072170	missense	possibly damaging	0.86
R4792:Pnn	UTSW	12	59072205	missense	possibly damaging	0.86
R4812:Pnn	UTSW	12	59071618	missense	possibly damaging	0.94
R4933:Pnn	UTSW	12	59070227	missense	probably damaging	1.00
R5541:Pnn	UTSW	12	59071930	missense	possibly damaging	0.50
R5716:Pnn	UTSW	12	59071872	missense	probably benign	0.00
R5963:Pnn	UTSW	12	59067831	nonsense	probably null
R6877:Pnn	UTSW	12	59068767	missense	probably damaging	1.00
R6999:Pnn	UTSW	12	59070299	critical splice donor site	probably null
R7372:Pnn	UTSW	12	59068979	missense	probably damaging	1.00
R7458:Pnn	UTSW	12	59072414	missense	unknown
R7535:Pnn	UTSW	12	59072137	missense	probably benign	0.00
R8171:Pnn	UTSW	12	59070437	missense	probably damaging	1.00
R8264:Pnn	UTSW	12	59072577	missense	unknown
Z1177:Pnn	UTSW	12	59072799	missense	probably benign	0.02

Predicted Primers

PCR Primer
(F):5'- GCATCAGGTGGTGCGTAATG -3'
(R):5'- TGGCAAAGTCTCAGGCTGAC -3'

Sequencing Primer
(F):5'- CAGGTAATCAGCACAATGATGTAG -3'
(R):5'- TCTCAGGCTGACAGAGAGGC -3'

Posted On

2016-12-15