Mutagenetix > Incidental Mutation

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

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R5781 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

59113705-59120803 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 59118605 bp (GRCm39)

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]

AlphaFold

no structure available at present

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: 109,992,813 (GRCm39)	L1617P	probably damaging	Het
Abhd16b	T	C	2: 181,135,947 (GRCm39)	V283A	probably damaging	Het
Adamts19	G	T	18: 58,971,040 (GRCm39)	R208L	possibly damaging	Het
Adamts4	T	C	1: 171,078,584 (GRCm39)	I56T	possibly damaging	Het
Alpk1	A	C	3: 127,473,684 (GRCm39)	V773G	possibly damaging	Het
Arhgap10	G	T	8: 78,177,336 (GRCm39)	Q100K	possibly damaging	Het
Arhgef18	T	A	8: 3,489,439 (GRCm39)		probably null	Het
Asb15	A	T	6: 24,564,377 (GRCm39)	H277L	probably benign	Het
Ascc3	T	A	10: 50,514,074 (GRCm39)	V291E	probably damaging	Het
Cnot6l	A	C	5: 96,234,024 (GRCm39)	V329G	probably benign	Het
Col14a1	A	G	15: 55,286,908 (GRCm39)	T910A	unknown	Het
Dhdds	G	A	4: 133,724,141 (GRCm39)	L58F	probably damaging	Het
Dsc2	A	G	18: 20,165,567 (GRCm39)	I846T	probably benign	Het
Evc	A	T	5: 37,483,914 (GRCm39)	S129T	probably damaging	Het
Fetub	C	T	16: 22,751,081 (GRCm39)	R143C	probably damaging	Het
Fyco1	A	G	9: 123,623,898 (GRCm39)	V1377A	probably damaging	Het
Haus6	C	T	4: 86,519,500 (GRCm39)	A203T	possibly damaging	Het
Hkdc1	T	G	10: 62,253,712 (GRCm39)	D23A	probably damaging	Het
Hpdl	C	T	4: 116,677,775 (GRCm39)	V229M	probably damaging	Het
Hspa12a	T	C	19: 58,810,518 (GRCm39)	Y175C	probably damaging	Het
Hyal1	C	T	9: 107,454,866 (GRCm39)	P59S	probably damaging	Het
Itpr1	G	A	6: 108,487,699 (GRCm39)	C2374Y	probably benign	Het
Kmt2a	A	T	9: 44,759,139 (GRCm39)	Y114*	probably null	Het
Mc2r	A	T	18: 68,540,468 (GRCm39)	I275K	probably damaging	Het
Mc2r	A	T	18: 68,540,466 (GRCm39)	Y276N	possibly damaging	Het
Mlycd	A	G	8: 120,137,019 (GRCm39)	Y413C	probably damaging	Het
Mocs2	T	G	13: 114,957,455 (GRCm39)	S86R	probably damaging	Het
Msx2	C	A	13: 53,626,644 (GRCm39)	A35S	probably benign	Het
Or6c201	A	T	10: 128,969,016 (GRCm39)	L207H	probably damaging	Het
Pla2g4f	C	A	2: 120,135,504 (GRCm39)	S390I	probably damaging	Het
Plcl1	C	T	1: 55,735,148 (GRCm39)	A163V	possibly damaging	Het
Rbmxl1	G	A	8: 79,232,270 (GRCm39)		probably benign	Het
Recql	G	T	6: 142,311,344 (GRCm39)		probably null	Het
Rev3l	T	A	10: 39,699,089 (GRCm39)	N1195K	probably benign	Het
Rfwd3	G	A	8: 111,999,716 (GRCm39)	T754M	probably benign	Het
Sctr	A	G	1: 119,959,350 (GRCm39)	T98A	probably damaging	Het
Sdk1	T	A	5: 141,921,803 (GRCm39)	D6E	probably benign	Het
Smpdl3a	T	A	10: 57,684,034 (GRCm39)	I264K	possibly damaging	Het
Spag6	A	G	2: 18,736,804 (GRCm39)	I154V	probably benign	Het
Tbc1d12	A	C	19: 38,871,127 (GRCm39)	T297P	probably benign	Het
Tgfb1	A	G	7: 25,396,385 (GRCm39)	D226G	probably benign	Het
Ubr3	G	T	2: 69,846,588 (GRCm39)		probably null	Het
Ubr4	T	C	4: 139,195,407 (GRCm39)	Y1210H	probably damaging	Het
Ubr5	T	C	15: 38,006,785 (GRCm39)	T1157A	probably benign	Het
Vmn2r120	T	G	17: 57,831,938 (GRCm39)	T284P	probably benign	Het
Vps13b	G	T	15: 35,794,181 (GRCm39)	A2286S	probably damaging	Het
Zcchc14	A	T	8: 122,331,332 (GRCm39)		probably benign	Het
Zfr2	T	A	10: 81,079,547 (GRCm39)	V362E	probably benign	Het

Other mutations in Pnn

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02267:Pnn	APN	12	59,116,995 (GRCm39)	missense	probably damaging	1.00
R0350:Pnn	UTSW	12	59,113,903 (GRCm39)	critical splice donor site	probably null
R1853:Pnn	UTSW	12	59,118,399 (GRCm39)	missense	probably damaging	0.99
R1854:Pnn	UTSW	12	59,118,399 (GRCm39)	missense	probably damaging	0.99
R4287:Pnn	UTSW	12	59,118,956 (GRCm39)	missense	possibly damaging	0.86
R4792:Pnn	UTSW	12	59,118,991 (GRCm39)	missense	possibly damaging	0.86
R4812:Pnn	UTSW	12	59,118,404 (GRCm39)	missense	possibly damaging	0.94
R4933:Pnn	UTSW	12	59,117,013 (GRCm39)	missense	probably damaging	1.00
R5541:Pnn	UTSW	12	59,118,716 (GRCm39)	missense	possibly damaging	0.50
R5716:Pnn	UTSW	12	59,118,658 (GRCm39)	missense	probably benign	0.00
R5963:Pnn	UTSW	12	59,114,617 (GRCm39)	nonsense	probably null
R6877:Pnn	UTSW	12	59,115,553 (GRCm39)	missense	probably damaging	1.00
R6999:Pnn	UTSW	12	59,117,085 (GRCm39)	critical splice donor site	probably null
R7372:Pnn	UTSW	12	59,115,765 (GRCm39)	missense	probably damaging	1.00
R7458:Pnn	UTSW	12	59,119,200 (GRCm39)	missense	unknown
R7535:Pnn	UTSW	12	59,118,923 (GRCm39)	missense	probably benign	0.00
R8171:Pnn	UTSW	12	59,117,223 (GRCm39)	missense	probably damaging	1.00
R8264:Pnn	UTSW	12	59,119,363 (GRCm39)	missense	unknown
R9246:Pnn	UTSW	12	59,116,929 (GRCm39)	missense	probably damaging	1.00
R9404:Pnn	UTSW	12	59,118,758 (GRCm39)	missense	probably damaging	0.99
R9579:Pnn	UTSW	12	59,117,030 (GRCm39)	missense	possibly damaging	0.72
Z1177:Pnn	UTSW	12	59,119,585 (GRCm39)	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