Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02305:Pard6g'

287562

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Pard6g

Ensembl Gene

ENSMUSG00000056214

Gene Name

par-6 family cell polarity regulator gamma

Synonyms

2410049N21Rik

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.377) question?

Stock #

IGL02305

Quality Score

Status

Chromosome

Chromosomal Location

80090105-80162854 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 80160985 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 366 (L366P)

Ref Sequence

ENSEMBL: ENSMUSP00000069182 (fasta)

Gene Model

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

AlphaFold

Q9JK84

Predicted Effect

probably damaging
Transcript: ENSMUST00000070219
AA Change: L366P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000069182
Gene: ENSMUSG00000056214
AA Change: L366P

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

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 37 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts16	G	A	13: 70,921,048 (GRCm39)	T599I	probably damaging	Het
Ahi1	A	G	10: 20,846,796 (GRCm39)	T409A	probably benign	Het
Apol10b	T	A	15: 77,469,630 (GRCm39)	R182S	possibly damaging	Het
Arhgap35	A	G	7: 16,297,590 (GRCm39)	F492L	probably benign	Het
Ccdc136	A	G	6: 29,406,173 (GRCm39)	D173G	probably damaging	Het
Ccndbp1	T	C	2: 120,841,933 (GRCm39)	L67P	probably damaging	Het
Dync2h1	C	T	9: 7,122,678 (GRCm39)	V2093I	probably benign	Het
Eps15l1	T	C	8: 73,140,853 (GRCm39)	K213R	probably null	Het
Fat4	A	T	3: 39,064,137 (GRCm39)	N4698Y	probably damaging	Het
Frmpd1	G	T	4: 45,249,209 (GRCm39)	R133L	probably damaging	Het
Gdi2	T	A	13: 3,606,428 (GRCm39)	M158K	probably damaging	Het
Hoxc8	A	G	15: 102,901,025 (GRCm39)	Y156C	probably damaging	Het
Iho1	A	T	9: 108,283,031 (GRCm39)	M219K	possibly damaging	Het
Kcnh2	T	C	5: 24,527,658 (GRCm39)	D898G	possibly damaging	Het
Kng2	T	C	16: 22,819,374 (GRCm39)		probably benign	Het
Men1	T	C	19: 6,390,168 (GRCm39)	L566P	probably damaging	Het
Mtmr2	T	C	9: 13,706,551 (GRCm39)	W153R	probably damaging	Het
Mug2	T	G	6: 122,013,015 (GRCm39)	L309R	probably benign	Het
Myo7a	A	G	7: 97,700,836 (GRCm39)	*2165R	probably null	Het
Ogfod2	T	C	5: 124,250,910 (GRCm39)		probably null	Het
Or8b48	C	T	9: 38,492,809 (GRCm39)	P79S	probably damaging	Het
Or8g20	A	T	9: 39,396,333 (GRCm39)	I72N	probably damaging	Het
Pdlim4	A	T	11: 53,946,759 (GRCm39)	L117H	probably damaging	Het
Pkd1l1	G	A	11: 8,852,467 (GRCm39)	A672V	probably benign	Het
Pomt2	A	G	12: 87,164,703 (GRCm39)		probably benign	Het
Prpf4	T	A	4: 62,333,633 (GRCm39)		probably benign	Het
Rad17	C	T	13: 100,770,370 (GRCm39)		probably null	Het
Ryr3	T	A	2: 112,475,622 (GRCm39)	I4499F	probably damaging	Het
Sav1	A	G	12: 70,033,550 (GRCm39)		probably benign	Het
Scube1	A	T	15: 83,491,591 (GRCm39)	F887I	probably damaging	Het
Slc5a6	T	C	5: 31,195,179 (GRCm39)	S473G	probably benign	Het
Taf1b	T	C	12: 24,594,270 (GRCm39)	S268P	possibly damaging	Het
Tmem135	A	T	7: 88,814,331 (GRCm39)		probably null	Het
Vmn2r104	A	T	17: 20,263,118 (GRCm39)	N114K	probably benign	Het
Ypel5	A	T	17: 73,155,591 (GRCm39)	Y53F	probably benign	Het
Zfp438	A	G	18: 5,213,674 (GRCm39)	V428A	possibly damaging	Het
Zzef1	T	C	11: 72,757,423 (GRCm39)		probably benign	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
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
R9077:Pard6g	UTSW	18	80,160,772 (GRCm39)	missense	probably damaging	0.99

Posted On

2015-04-16