Mutagenetix > Incidental Mutation

Incidental Mutation 'R7372:Pnn'

572175

Institutional Source

Beutler Lab

Gene Symbol

Pnn

Ensembl Gene

ENSMUSG00000020994

Gene Name

pinin

Synonyms

D12Ertd512e

MMRRC Submission

045455-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7372 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

59113705-59120803 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 59115765 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 135 (D135E)

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: D135E

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000021381
Gene: ENSMUSG00000020994
AA Change: D135E

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

probably benign
Transcript: ENSMUST00000219176

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.2%

Validation Efficiency

99% (68/69)

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: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abl2	G	A	1: 156,450,189 (GRCm39)	V119M	probably damaging	Het
Acss2	T	C	2: 155,399,100 (GRCm39)	V454A	probably damaging	Het
Adam6b	T	A	12: 113,453,784 (GRCm39)	D200E	probably benign	Het
Adarb1	T	A	10: 77,131,712 (GRCm39)		probably null	Het
Aqp12	C	T	1: 92,934,088 (GRCm39)		probably benign	Het
Atrnl1	T	C	19: 57,924,078 (GRCm39)	V1281A	possibly damaging	Het
Brdt	A	G	5: 107,518,160 (GRCm39)	E761G	possibly damaging	Het
Bsn	A	T	9: 107,987,718 (GRCm39)	I2678N	unknown	Het
C2cd2	A	T	16: 97,676,580 (GRCm39)	C136S		Het
Camk4	A	G	18: 33,318,178 (GRCm39)	D445G	probably benign	Het
Cckar	T	C	5: 53,864,624 (GRCm39)	T26A	probably damaging	Het
Cd209a	T	A	8: 3,798,857 (GRCm39)		probably null	Het
Cept1	A	G	3: 106,411,056 (GRCm39)	F379S	probably benign	Het
Crhr1	A	G	11: 104,054,719 (GRCm39)		probably null	Het
Cryzl1	T	C	16: 91,509,085 (GRCm39)	E72G	probably benign	Het
Ctnnal1	T	A	4: 56,826,285 (GRCm39)	E526V	possibly damaging	Het
Cyp3a41a	T	C	5: 145,650,374 (GRCm39)	I90V	possibly damaging	Het
Dek	T	C	13: 47,259,053 (GRCm39)	E51G	unknown	Het
Dnaaf6rt	A	T	1: 31,262,432 (GRCm39)	D138V	probably damaging	Het
Evc2	T	A	5: 37,544,477 (GRCm39)	V742E	probably damaging	Het
Fat4	G	A	3: 38,944,358 (GRCm39)	V1084M	probably damaging	Het
Fscb	G	A	12: 64,518,598 (GRCm39)	T956I	unknown	Het
Glipr2	T	C	4: 43,968,184 (GRCm39)	L29P	probably damaging	Het
Gm19402	A	T	10: 77,526,261 (GRCm39)	S111T	unknown	Het
Gm4553	ACCCTTGCAGCCACCACAGGAGCCACAGCCCCCACAGGAGCTACAGCCTCCCTTGCAGCCACCACAGGAGCCACAGCCCCCACAGGAGCTACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCC	ACCCTTGCAGCCACCACAGGAGCCACAGCCCCCACAGGAGCTACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCC	7: 141,719,157 (GRCm39)		probably benign	Het
Gnl3	T	C	14: 30,738,843 (GRCm39)	K115E	probably benign	Het
Gpn1	T	A	5: 31,658,465 (GRCm39)	F147I	probably damaging	Het
Gsdmd	T	A	15: 75,737,618 (GRCm39)	L232H	probably benign	Het
Helz2	A	G	2: 180,880,216 (GRCm39)	V500A	possibly damaging	Het
Hemk1	T	C	9: 107,214,267 (GRCm39)	E55G	probably benign	Het
Hs2st1	A	T	3: 144,141,221 (GRCm39)		probably null	Het
Ighv1-63	A	G	12: 115,459,486 (GRCm39)	V37A	probably damaging	Het
Iqsec3	C	A	6: 121,360,991 (GRCm39)	E956*	probably null	Het
Kcnh8	T	A	17: 53,201,129 (GRCm39)	I521K	probably damaging	Het
Kif3c	T	A	12: 3,437,592 (GRCm39)	M531K	probably benign	Het
Kif5c	T	A	2: 49,648,671 (GRCm39)		probably null	Het
Krt15	A	T	11: 100,026,386 (GRCm39)	V100E	possibly damaging	Het
Lcor	T	C	19: 41,573,945 (GRCm39)	L900P	probably damaging	Het
Lrrc32	A	G	7: 98,149,014 (GRCm39)	D598G	probably benign	Het
Mug2	T	C	6: 122,060,425 (GRCm39)	V1387A	possibly damaging	Het
Nin	T	A	12: 70,102,803 (GRCm39)	E275V		Het
Or5p68	A	G	7: 107,945,703 (GRCm39)	F162L	probably benign	Het
Papolg	A	G	11: 23,816,439 (GRCm39)	I698T	probably benign	Het
Pcdhb20	A	G	18: 37,639,840 (GRCm39)	N789D	probably benign	Het
Pik3cg	C	T	12: 32,247,196 (GRCm39)	M842I	probably damaging	Het
Pold1	C	A	7: 44,192,847 (GRCm39)	R5L	possibly damaging	Het
Prl8a1	A	T	13: 27,758,089 (GRCm39)	F207I	probably damaging	Het
Prr11	A	G	11: 86,989,600 (GRCm39)	V257A	probably benign	Het
Prtg	C	T	9: 72,758,848 (GRCm39)	R401*	probably null	Het
Rasgrp1	A	G	2: 117,115,635 (GRCm39)	M651T	probably benign	Het
Ryr2	T	A	13: 11,695,885 (GRCm39)	H2994L	probably damaging	Het
Snx13	A	T	12: 35,128,950 (GRCm39)	I23L	probably benign	Het
Snx7	A	G	3: 117,576,000 (GRCm39)	L429P	probably damaging	Het
Spta1	C	T	1: 174,025,201 (GRCm39)	Q689*	probably null	Het
Spty2d1	T	C	7: 46,648,692 (GRCm39)	D79G	probably damaging	Het
Tbc1d9b	A	G	11: 50,059,515 (GRCm39)		probably null	Het
Tnxb	T	C	17: 34,936,228 (GRCm39)	F2722L	possibly damaging	Het
Tppp2	C	T	14: 52,156,865 (GRCm39)	R81C	probably benign	Het
Trim6	G	T	7: 103,881,843 (GRCm39)	A391S	probably benign	Het
Trim69	A	C	2: 122,009,064 (GRCm39)	T375P	possibly damaging	Het
Trim72	A	G	7: 127,603,858 (GRCm39)	N68S	possibly damaging	Het
Trrap	G	A	5: 144,726,208 (GRCm39)	V386I	probably benign	Het
Ttn	T	C	2: 76,778,275 (GRCm39)	I1371V	unknown	Het
Usp17lb	A	T	7: 104,490,913 (GRCm39)		probably null	Het
Vmn2r20	A	T	6: 123,362,468 (GRCm39)	L772Q	probably damaging	Het
Ypel3	A	G	7: 126,379,200 (GRCm39)	E91G	probably benign	Het
Zbtb21	C	T	16: 97,751,569 (GRCm39)	E905K	possibly damaging	Het
Zfp189	T	A	4: 49,530,417 (GRCm39)	C507S	possibly damaging	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
R5781:Pnn	UTSW	12	59,118,605 (GRCm39)	missense	probably damaging	0.99
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
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'- CGACCCAGAAGACGATGATG -3'
(R):5'- ACCCGTTCAGTAGCAACAG -3'

Sequencing Primer
(F):5'- CCCAGAAGACGATGATGTTAAAAAG -3'
(R):5'- CCGTTCAGTAGCAACAGTAGATTC -3'

Posted On

2019-09-13