Mutagenetix > Incidental Mutation

Incidental Mutation 'R9579:Pnn'

722472

Institutional Source

Beutler Lab

Gene Symbol

Pnn

Ensembl Gene

ENSMUSG00000020994

Gene Name

pinin

Synonyms

D12Ertd512e

MMRRC Submission

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R9579 (G1)

Quality Score

221.009

Status

Not validated

Chromosome

Chromosomal Location

59113705-59120803 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 59117030 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Threonine at position 201 (A201T)

Ref Sequence

ENSEMBL: ENSMUSP00000021381 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

possibly damaging
Transcript: ENSMUST00000021381
AA Change: A201T

PolyPhen 2 Score 0.719 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000021381
Gene: ENSMUSG00000020994
AA Change: A201T

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: 99.9%
10x: 99.6%
20x: 98.7%

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: 41 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam19	C	A	11: 46,009,262 (GRCm39)	H229N	probably benign	Het
Ak9	C	A	10: 41,213,576 (GRCm39)	H260Q		Het
Akap3	G	A	6: 126,850,974 (GRCm39)	V831I	probably damaging	Het
Arhgap45	T	C	10: 79,853,843 (GRCm39)	F119S	probably benign	Het
Best3	A	G	10: 116,829,100 (GRCm39)	T127A	probably damaging	Het
Ccdc7a	G	A	8: 129,774,134 (GRCm39)	Q134*	probably null	Het
Ceacam5	C	A	7: 17,479,561 (GRCm39)	S226Y	probably damaging	Het
Creb3l1	C	T	2: 91,822,231 (GRCm39)		probably null	Het
Cul4a	G	A	8: 13,186,147 (GRCm39)	E450K	probably damaging	Het
Cyb5a	A	T	18: 84,891,273 (GRCm39)	R89S	probably benign	Het
Dnah2	A	G	11: 69,368,041 (GRCm39)	L1766P	probably damaging	Het
Gbp4	T	C	5: 105,270,947 (GRCm39)	E228G	probably damaging	Het
Ghr	A	G	15: 3,349,612 (GRCm39)	I522T	probably benign	Het
Gm5225	A	C	17: 24,242,897 (GRCm39)	H22P	possibly damaging	Het
Herc2	T	A	7: 55,758,500 (GRCm39)	C796S	probably damaging	Het
Hmgxb4	G	T	8: 75,756,638 (GRCm39)	A588S	probably damaging	Het
Lats2	G	A	14: 57,937,191 (GRCm39)	P433S	probably damaging	Het
Lrfn1	C	T	7: 28,166,769 (GRCm39)	T721I	probably damaging	Het
Matcap1	A	T	8: 106,012,379 (GRCm39)	S23T	probably benign	Het
Mpzl3	G	A	9: 44,973,350 (GRCm39)	V30I	probably benign	Het
Or2r3	A	T	6: 42,448,574 (GRCm39)	C179*	probably null	Het
Pcdh15	A	G	10: 74,457,117 (GRCm39)	Y1298C	possibly damaging	Het
Plcd4	C	A	1: 74,596,948 (GRCm39)	H397N	probably benign	Het
Ptprd	C	G	4: 75,872,315 (GRCm39)	A1134P	possibly damaging	Het
Rabl3	T	C	16: 37,362,230 (GRCm39)	V23A	probably damaging	Het
Rnf157	T	C	11: 116,240,822 (GRCm39)	N423S	probably benign	Het
Rtn1	T	C	12: 72,270,289 (GRCm39)	D601G	probably damaging	Het
Rxfp1	A	G	3: 79,557,946 (GRCm39)	Y511H	probably damaging	Het
Sema5b	T	C	16: 35,467,582 (GRCm39)	M282T	probably benign	Het
Slco5a1	G	T	1: 12,949,383 (GRCm39)	S669*	probably null	Het
Sphkap	C	G	1: 83,255,295 (GRCm39)	G818A	probably damaging	Het
Stk26	C	T	X: 49,930,618 (GRCm39)		probably benign	Het
Syne3	T	C	12: 104,942,107 (GRCm39)	S12G	probably damaging	Het
Tmem150a	C	A	6: 72,334,070 (GRCm39)	Q51K	probably benign	Het
Ttn	C	T	2: 76,550,196 (GRCm39)	D31662N	probably damaging	Het
Ttn	C	T	2: 76,578,602 (GRCm39)	G24097D	probably damaging	Het
Tubb4b	T	C	2: 25,114,139 (GRCm39)	T55A	probably benign	Het
Vcan	A	T	13: 89,837,713 (GRCm39)	D2610E	possibly damaging	Het
Xkr5	T	C	8: 18,983,785 (GRCm39)	T586A	probably benign	Het
Zfp260	T	C	7: 29,805,108 (GRCm39)	F336S		Het
Zic1	A	G	9: 91,246,790 (GRCm39)	F94S	probably 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
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
Z1177:Pnn	UTSW	12	59,119,585 (GRCm39)	missense	probably benign	0.02

Predicted Primers

PCR Primer
(F):5'- ACGTGATGAAAGCCTACGAG -3'
(R):5'- AACAAATGGGGCTTTGTCTTG -3'

Sequencing Primer
(F):5'- TTCAAATAAGCAAGATGTGTGTGGCC -3'
(R):5'- GGCTTTGTCTTGGTCCTTATATAC -3'

Posted On

2022-08-09