Mutagenetix > Incidental Mutation

Incidental Mutation 'R9077:Pard6g'

689875

Institutional Source

Beutler Lab

Gene Symbol

Pard6g

Ensembl Gene

ENSMUSG00000056214

Gene Name

par-6 family cell polarity regulator gamma

Synonyms

2410049N21Rik

MMRRC Submission

068898-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.462) question?

Stock #

R9077 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

80090105-80162854 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 80160772 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 295 (E295G)

Ref Sequence

ENSEMBL: ENSMUSP00000069182 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000070219]

AlphaFold

Q9JK84

Predicted Effect

probably damaging
Transcript: ENSMUST00000070219
AA Change: E295G

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

SMART Domains

Protein: ENSMUSP00000069182
Gene: ENSMUSG00000056214
AA Change: E295G

Domain	Start	End	E-Value	Type
PB1	18	98	1.16e-16	SMART
PDZ	168	251	8.6e-14	SMART

Meta Mutation Damage Score

0.2512

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.4%
20x: 97.5%

Validation Efficiency

100% (48/48)

Allele List at MGI

Other mutations in this stock

Total: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam8	A	G	7: 139,567,552 (GRCm39)	V397A	probably benign	Het
Alkbh3	A	G	2: 93,811,925 (GRCm39)	V235A	probably damaging	Het
Arfgef2	A	G	2: 166,706,721 (GRCm39)	I982V	probably damaging	Het
Arfgef3	T	C	10: 18,500,899 (GRCm39)	D1117G	possibly damaging	Het
Arhgap31	G	T	16: 38,422,730 (GRCm39)	A1112D	probably damaging	Het
Arhgef4	T	C	1: 34,760,824 (GRCm39)	C27R	unknown	Het
Bzw1	T	A	1: 58,438,190 (GRCm39)	M90K	probably benign	Het
Cdk17	T	C	10: 93,068,277 (GRCm39)	Y345H	probably damaging	Het
Cip2a	A	G	16: 48,827,511 (GRCm39)	I459V	probably benign	Het
Cog8	C	T	8: 107,779,208 (GRCm39)	M356I	probably damaging	Het
Ctsw	T	C	19: 5,516,431 (GRCm39)	D173G	probably benign	Het
Dnah6	A	T	6: 73,121,029 (GRCm39)	C1488*	probably null	Het
Dnah7a	T	C	1: 53,741,218 (GRCm39)	K13E	unknown	Het
Eif3f	A	G	7: 108,539,425 (GRCm39)	M232V	probably benign	Het
Gk5	C	A	9: 96,001,634 (GRCm39)	T44K	probably benign	Het
Glrb	A	G	3: 80,763,217 (GRCm39)	F260S	probably damaging	Het
Glyctk	C	A	9: 106,032,522 (GRCm39)	R497L	probably benign	Het
Gm10153	G	T	7: 141,743,383 (GRCm39)	C248*	probably null	Het
Hand2	A	G	8: 57,776,836 (GRCm39)	K199E	probably damaging	Het
Heatr1	T	A	13: 12,428,247 (GRCm39)	C795S	probably benign	Het
Il31ra	T	C	13: 112,670,361 (GRCm39)	I342M	probably benign	Het
Itm2b	G	T	14: 73,605,865 (GRCm39)	D40E	probably benign	Het
Ksr1	T	C	11: 78,927,552 (GRCm39)	T371A	probably damaging	Het
Lctl	C	A	9: 64,039,241 (GRCm39)		probably benign	Het
Lpin1	G	A	12: 16,591,747 (GRCm39)	P827S		Het
Lyst	T	C	13: 13,857,693 (GRCm39)	I2494T	probably benign	Het
Mia2	A	G	12: 59,226,760 (GRCm39)	N510S	possibly damaging	Het
Mycbp2	T	C	14: 103,469,974 (GRCm39)	D1308G	probably damaging	Het
Naip2	C	T	13: 100,291,459 (GRCm39)	D1160N	probably benign	Het
Naip2	T	C	13: 100,291,468 (GRCm39)	S1157G	probably benign	Het
Omt2b	T	C	9: 78,235,548 (GRCm39)		probably null	Het
Or2j6	G	A	7: 139,980,809 (GRCm39)	P50L	probably benign	Het
Or56b1	C	T	7: 104,285,291 (GRCm39)	R137C	probably benign	Het
Or56b1	A	G	7: 104,285,618 (GRCm39)	T246A	probably damaging	Het
Pan2	A	G	10: 128,148,856 (GRCm39)	Y490C	probably damaging	Het
Pcdhb8	T	C	18: 37,489,414 (GRCm39)	V23A	probably damaging	Het
Phactr3	A	T	2: 177,974,758 (GRCm39)		probably benign	Het
Pip	G	A	6: 41,828,388 (GRCm39)	S74N	probably damaging	Het
Plau	G	A	14: 20,889,949 (GRCm39)	E265K	probably benign	Het
Pmm1	C	T	15: 81,839,896 (GRCm39)	R143H	probably damaging	Het
Rcor3	C	T	1: 191,807,865 (GRCm39)	D230N	probably damaging	Het
Siglec15	A	G	18: 78,091,983 (GRCm39)	Y73H	possibly damaging	Het
Spag16	T	A	1: 70,532,930 (GRCm39)		probably benign	Het
Spta1	G	T	1: 174,045,170 (GRCm39)	D1506Y	probably damaging	Het
Tacr3	A	T	3: 134,635,711 (GRCm39)	Y305F	probably benign	Het
Tcstv7a	T	C	13: 120,289,885 (GRCm39)	M104V	probably benign	Het
Vmn1r83	G	A	7: 12,055,571 (GRCm39)	T162M	probably damaging	Het
Vmn2r116	G	T	17: 23,604,956 (GRCm39)	D90Y	probably benign	Het
Wdr76	A	G	2: 121,364,608 (GRCm39)	N304S	probably benign	Het
Wee1	G	A	7: 109,725,963 (GRCm39)	V358I	probably damaging	Het
Zan	G	A	5: 137,401,468 (GRCm39)	P4084S	unknown	Het

Other mutations in Pard6g

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01024:Pard6g	APN	18	80,123,037 (GRCm39)	splice site	probably benign
IGL01514:Pard6g	APN	18	80,160,661 (GRCm39)	missense	probably damaging	1.00
IGL01519:Pard6g	APN	18	80,123,071 (GRCm39)	missense	probably benign	0.34
IGL02305:Pard6g	APN	18	80,160,985 (GRCm39)	missense	probably damaging	1.00
IGL03115:Pard6g	APN	18	80,123,068 (GRCm39)	missense	probably damaging	1.00
R0411:Pard6g	UTSW	18	80,160,337 (GRCm39)	missense	probably damaging	1.00
R0604:Pard6g	UTSW	18	80,160,423 (GRCm39)	missense	probably damaging	1.00
R0938:Pard6g	UTSW	18	80,123,259 (GRCm39)	nonsense	probably null
R1730:Pard6g	UTSW	18	80,123,040 (GRCm39)	missense	probably damaging	0.97
R1783:Pard6g	UTSW	18	80,123,040 (GRCm39)	missense	probably damaging	0.97
R1785:Pard6g	UTSW	18	80,160,523 (GRCm39)	missense	probably damaging	0.96
R1786:Pard6g	UTSW	18	80,160,523 (GRCm39)	missense	probably damaging	0.96
R1851:Pard6g	UTSW	18	80,160,357 (GRCm39)	missense	probably damaging	1.00
R2070:Pard6g	UTSW	18	80,160,940 (GRCm39)	missense	probably benign	0.00
R2132:Pard6g	UTSW	18	80,160,523 (GRCm39)	missense	probably damaging	0.96
R2133:Pard6g	UTSW	18	80,160,523 (GRCm39)	missense	probably damaging	0.96
R3778:Pard6g	UTSW	18	80,123,038 (GRCm39)	critical splice acceptor site	probably null
R5282:Pard6g	UTSW	18	80,123,116 (GRCm39)	missense	probably benign	0.01
R6084:Pard6g	UTSW	18	80,160,420 (GRCm39)	missense	possibly damaging	0.73
R6913:Pard6g	UTSW	18	80,160,534 (GRCm39)	missense	possibly damaging	0.94
R7124:Pard6g	UTSW	18	80,160,340 (GRCm39)	missense	possibly damaging	0.70
R8109:Pard6g	UTSW	18	80,160,658 (GRCm39)	missense	possibly damaging	0.65
R8469:Pard6g	UTSW	18	80,090,347 (GRCm39)	missense	possibly damaging	0.81
R8903:Pard6g	UTSW	18	80,160,411 (GRCm39)	nonsense	probably null
R8915:Pard6g	UTSW	18	80,160,957 (GRCm39)	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- TTGAGGTAGCTGGAAAGACCTTG -3'
(R):5'- AGAAATCTGTGGATGCTGCCG -3'

Sequencing Primer
(F):5'- CCTTGGATCAAGTCACAGACATGATG -3'
(R):5'- GGATGCTGCCGTTGCTCTC -3'

Posted On

2021-11-19