Mutagenetix > Incidental Mutation

Incidental Mutation 'R8264:Pnn'

639741

Institutional Source

Beutler Lab

Gene Symbol

Pnn

Ensembl Gene

ENSMUSG00000020994

Gene Name

pinin

Synonyms

D12Ertd512e

MMRRC Submission

067689-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R8264 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

59113705-59120803 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 59119363 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Tyrosine at position 649 (H649Y)

Ref Sequence

ENSEMBL: ENSMUSP00000021381 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

unknown
Transcript: ENSMUST00000021381
AA Change: H649Y

SMART Domains

Protein: ENSMUSP00000021381
Gene: ENSMUSG00000020994
AA Change: H649Y

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

Meta Mutation Damage Score

0.1951

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.8%

Validation Efficiency

98% (51/52)

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: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110002E22Rik	T	A	3: 137,773,543 (GRCm39)	C911S	probably damaging	Het
Abcc4	T	A	14: 118,832,254 (GRCm39)	N792I	possibly damaging	Het
Acacb	A	T	5: 114,345,427 (GRCm39)	H960L	probably benign	Het
Aox1	A	G	1: 58,092,873 (GRCm39)	T162A	possibly damaging	Het
Cacna1g	T	C	11: 94,364,392 (GRCm39)	S18G	probably benign	Het
Chfr	T	A	5: 110,300,300 (GRCm39)	I348N	possibly damaging	Het
Cntln	G	A	4: 85,016,648 (GRCm39)	R12Q	probably damaging	Het
Cyp2c40	A	G	19: 39,795,971 (GRCm39)	S136P	possibly damaging	Het
Dnah14	T	A	1: 181,572,357 (GRCm39)	M2896K	probably damaging	Het
Elp6	A	G	9: 110,148,755 (GRCm39)	T215A	probably damaging	Het
Esyt2	A	C	12: 116,329,540 (GRCm39)	Q699H	probably benign	Het
Fbxo25	A	G	8: 13,979,393 (GRCm39)	T204A	possibly damaging	Het
Fhdc1	A	G	3: 84,362,339 (GRCm39)	S294P	probably damaging	Het
G530012D18Rik	C	G	1: 85,504,935 (GRCm39)	D113E	unknown	Het
Galnt10	A	G	11: 57,673,032 (GRCm39)	I463V	probably benign	Het
Glce	A	G	9: 61,967,712 (GRCm39)	F480L	probably benign	Het
H2-Aa	A	G	17: 34,506,709 (GRCm39)	V11A	probably benign	Het
Hsd17b4	A	G	18: 50,279,593 (GRCm39)	T191A	possibly damaging	Het
Itpr3	G	T	17: 27,323,086 (GRCm39)		silent	Het
Izumo4	G	T	10: 80,538,572 (GRCm39)	G8V		Het
Klk1b5	T	A	7: 43,869,454 (GRCm39)	L178H	probably damaging	Het
Lama2	T	C	10: 27,343,218 (GRCm39)	N85D	probably benign	Het
Liph	A	C	16: 21,802,721 (GRCm39)	I116R	possibly damaging	Het
Lpar5	T	A	6: 125,058,465 (GRCm39)	V62D	probably damaging	Het
Map3k19	T	A	1: 127,751,528 (GRCm39)	I303F		Het
Mymk	A	G	2: 26,957,868 (GRCm39)		probably benign	Het
Myo10	G	A	15: 25,800,195 (GRCm39)	V1424M	probably damaging	Het
Myof	T	G	19: 37,909,881 (GRCm39)	Q1528P	probably damaging	Het
Ncapd3	T	C	9: 27,006,038 (GRCm39)		probably benign	Het
Nup214	T	A	2: 31,884,738 (GRCm39)	Y500N	possibly damaging	Het
Or5al6	T	C	2: 85,976,538 (GRCm39)	D180G	probably damaging	Het
Pappa2	T	C	1: 158,682,543 (GRCm39)	Y835C	probably damaging	Het
Pcdh18	T	C	3: 49,711,030 (GRCm39)	E95G	probably damaging	Het
Phf3	A	T	1: 30,870,138 (GRCm39)	N303K	possibly damaging	Het
Rab11fip1	G	A	8: 27,642,508 (GRCm39)	Q764*	probably null	Het
Ralgapa2	A	T	2: 146,175,370 (GRCm39)	M1762K	possibly damaging	Het
Rif1	G	A	2: 51,980,290 (GRCm39)	A496T	noncoding transcript	Het
Rnase13	A	T	14: 52,159,914 (GRCm39)	V75D	probably damaging	Het
Sema3c	G	A	5: 17,881,537 (GRCm39)		probably benign	Het
Sema4c	C	G	1: 36,591,966 (GRCm39)	G266R	probably damaging	Het
Slfn5	A	T	11: 82,847,376 (GRCm39)	D87V	probably damaging	Het
Smpd3	T	C	8: 106,991,290 (GRCm39)	Y421C	probably damaging	Het
Snrnp40	T	C	4: 130,271,867 (GRCm39)	V188A	probably benign	Het
Srms	A	G	2: 180,854,343 (GRCm39)	Y75H	probably benign	Het
Tent2	C	T	13: 93,312,077 (GRCm39)	G208S	probably damaging	Het
Tex15	T	C	8: 34,072,390 (GRCm39)	S2646P	probably benign	Het
Togaram1	A	G	12: 65,042,330 (GRCm39)	I1130V	probably benign	Het
Ttf1	A	G	2: 28,954,689 (GRCm39)	K18E	possibly damaging	Het
Unc5b	G	T	10: 60,604,113 (GRCm39)	T827K	probably benign	Het
Zfhx2	T	A	14: 55,302,969 (GRCm39)	T1672S	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
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
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'- AGGTGTCTGTAGAGCCAGTC -3'
(R):5'- GAAGATCTTTTGCCTGATCGAC -3'

Sequencing Primer
(F):5'- CTGTAGAGCCAGTCTTGACAGTAC -3'
(R):5'- GATCGACTACTCTCTGATATAGACC -3'

Posted On

2020-07-28