Mutagenetix > Incidental Mutation

Incidental Mutation 'R7088:Pax6'

549988

Institutional Source

Beutler Lab

Gene Symbol

Pax6

Ensembl Gene

ENSMUSG00000027168

Gene Name

paired box 6

Synonyms

Pax-6, Dickie's small eye, Gsfaey11, 1500038E17Rik, Dey, AEY11

MMRRC Submission

045182-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7088 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

105499245-105527709 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 105526753 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Aspartic acid at position 220 (N220D)

Ref Sequence

ENSEMBL: ENSMUSP00000106717 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000090391] [ENSMUST00000090397] [ENSMUST00000111082] [ENSMUST00000111083] [ENSMUST00000111085] [ENSMUST00000111086] [ENSMUST00000111087] [ENSMUST00000111088] [ENSMUST00000122965] [ENSMUST00000167211]

AlphaFold

P63015

Predicted Effect

probably benign
Transcript: ENSMUST00000090391

SMART Domains

Protein: ENSMUSP00000087870
Gene: ENSMUSG00000027168

Domain	Start	End	E-Value	Type
PAX	4	142	7.36e-86	SMART
low complexity region	188	199	N/A	INTRINSIC
HOX	224	286	4.93e-26	SMART
low complexity region	295	308	N/A	INTRINSIC
low complexity region	401	409	N/A	INTRINSIC
low complexity region	412	426	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000090397

SMART Domains

Protein: ENSMUSP00000087878
Gene: ENSMUSG00000027168

Domain	Start	End	E-Value	Type
PAX	4	128	6.11e-92	SMART
low complexity region	174	185	N/A	INTRINSIC
HOX	210	272	4.93e-26	SMART
low complexity region	281	294	N/A	INTRINSIC
low complexity region	387	395	N/A	INTRINSIC
low complexity region	398	412	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000111082

SMART Domains

Protein: ENSMUSP00000106711
Gene: ENSMUSG00000027168

Domain	Start	End	E-Value	Type
PAX	4	128	6.11e-92	SMART
low complexity region	174	185	N/A	INTRINSIC
HOX	210	272	4.93e-26	SMART
low complexity region	281	294	N/A	INTRINSIC
low complexity region	387	395	N/A	INTRINSIC
low complexity region	398	412	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000111083

SMART Domains

Protein: ENSMUSP00000106712
Gene: ENSMUSG00000027168

Domain	Start	End	E-Value	Type
PAX	4	128	6.11e-92	SMART
low complexity region	174	185	N/A	INTRINSIC
HOX	210	272	4.93e-26	SMART
low complexity region	281	294	N/A	INTRINSIC
low complexity region	387	395	N/A	INTRINSIC
low complexity region	398	412	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000111085

SMART Domains

Protein: ENSMUSP00000106714
Gene: ENSMUSG00000027168

Domain	Start	End	E-Value	Type
PAX	4	142	7.36e-86	SMART
low complexity region	188	199	N/A	INTRINSIC
HOX	224	286	4.93e-26	SMART
low complexity region	295	308	N/A	INTRINSIC
low complexity region	401	409	N/A	INTRINSIC
low complexity region	412	426	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000111086

SMART Domains

Protein: ENSMUSP00000106715
Gene: ENSMUSG00000027168

Domain	Start	End	E-Value	Type
PAX	4	142	7.36e-86	SMART
low complexity region	188	199	N/A	INTRINSIC
HOX	224	286	4.93e-26	SMART
low complexity region	295	308	N/A	INTRINSIC
low complexity region	401	409	N/A	INTRINSIC
low complexity region	412	426	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000111087

SMART Domains

Protein: ENSMUSP00000106716
Gene: ENSMUSG00000027168

Domain	Start	End	E-Value	Type
PAX	4	128	6.11e-92	SMART
low complexity region	174	185	N/A	INTRINSIC
HOX	210	272	4.93e-26	SMART
low complexity region	281	294	N/A	INTRINSIC
low complexity region	387	395	N/A	INTRINSIC
low complexity region	398	412	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000111088
AA Change: N220D

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000106717
Gene: ENSMUSG00000027168
AA Change: N220D

Domain	Start	End	E-Value	Type
low complexity region	2	17	N/A	INTRINSIC
HOX	39	101	4.93e-26	SMART
low complexity region	110	123	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000122965

SMART Domains

Protein: ENSMUSP00000116575
Gene: ENSMUSG00000027167

Domain	Start	End	E-Value	Type
Pfam:PAXNEB	28	422	4e-123	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000167211

SMART Domains

Protein: ENSMUSP00000129344
Gene: ENSMUSG00000027168

Domain	Start	End	E-Value	Type
PAX	4	142	7.36e-86	SMART
low complexity region	188	199	N/A	INTRINSIC
HOX	224	286	4.93e-26	SMART
low complexity region	295	308	N/A	INTRINSIC
low complexity region	401	409	N/A	INTRINSIC
low complexity region	412	426	N/A	INTRINSIC

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.3%

Validation Efficiency

99% (77/78)

MGI Phenotype

FUNCTION: This gene encodes a homeobox-containing protein that functions as a regulator of transcription. It plays a key role in the development of neural tissues, particularly the eye. Activity of this protein is also required for expression of glucagon in the pancreas. This gene is regulated by multiple enhancers located up to tens or hundreds of kilobases upstream and downstream of the transcription start sites. Mutations in this gene or deletion of these regulatory elements results in severe defects in eye development. Alternative splicing and the use of alternative promoters results in multiple transcript variants, some of which encode proteins that lack the N-terminal paired domain. [provided by RefSeq, Jul 2015]
PHENOTYPE: Null and hypomorphic mutants show a range of phenotypes from viable with small eyes and lens/cornea fusion to microphthalmia and cataract to embryonic or perinatal lethality with anophthalmia and severe craniofacial and forebrain defects. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 78 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700020L24Rik	G	T	11: 83,331,232 (GRCm39)	E48*	probably null	Het
Acaca	T	C	11: 84,169,783 (GRCm39)		probably null	Het
Albfm1	T	A	5: 90,720,609 (GRCm39)	L260*	probably null	Het
Alkbh3	A	G	2: 93,835,097 (GRCm39)	S83P	possibly damaging	Het
Ammecr1l	T	C	18: 31,904,872 (GRCm39)	S38P	probably benign	Het
Armc10	T	C	5: 21,858,390 (GRCm39)	V145A	probably damaging	Het
BC048671	A	G	6: 90,280,222 (GRCm39)	K46R	probably null	Het
C2cd3	A	G	7: 100,065,388 (GRCm39)	T347A		Het
C8b	G	T	4: 104,650,540 (GRCm39)	E449D	probably benign	Het
Camk4	T	C	18: 33,072,584 (GRCm39)	S46P	probably benign	Het
Ccdc113	G	A	8: 96,264,733 (GRCm39)	R81H	probably benign	Het
Cd177	A	T	7: 24,444,558 (GRCm39)	C674*	probably null	Het
Cdc6	T	A	11: 98,810,065 (GRCm39)	V458D	probably damaging	Het
Cenpo	C	T	12: 4,265,307 (GRCm39)	E238K	probably benign	Het
Ckap2	G	T	8: 22,659,882 (GRCm39)	P533Q	possibly damaging	Het
Cma1	T	A	14: 56,181,273 (GRCm39)	H44L	probably damaging	Het
Cmya5	A	T	13: 93,228,372 (GRCm39)	S2239T	possibly damaging	Het
Cntnap5b	T	A	1: 100,087,802 (GRCm39)	I141N	probably damaging	Het
Col6a4	T	A	9: 105,877,885 (GRCm39)	T2031S	possibly damaging	Het
Cplane1	C	T	15: 8,248,431 (GRCm39)	T1660M	probably benign	Het
Cxcr5	T	A	9: 44,424,683 (GRCm39)	T325S	possibly damaging	Het
Dhx32	A	T	7: 133,344,417 (GRCm39)	L204Q	probably damaging	Het
Dse	A	G	10: 34,029,885 (GRCm39)	Y402H	probably damaging	Het
Ecpas	A	T	4: 58,849,766 (GRCm39)	L458I	possibly damaging	Het
Exoc6	G	T	19: 37,565,458 (GRCm39)	C178F	probably damaging	Het
Fam149a	A	G	8: 45,803,582 (GRCm39)	V384A	probably benign	Het
Fcrl5	T	C	3: 87,365,141 (GRCm39)	*597Q	probably null	Het
Fer1l6	A	G	15: 58,435,899 (GRCm39)	K431E	possibly damaging	Het
Fmo3	T	A	1: 162,796,434 (GRCm39)	H46L	probably benign	Het
Gcm2	T	C	13: 41,256,840 (GRCm39)	D303G	probably damaging	Het
Gk2	T	C	5: 97,603,534 (GRCm39)	M435V	probably damaging	Het
Gli1	C	A	10: 127,171,868 (GRCm39)	M295I	probably damaging	Het
Gm11444	G	T	11: 85,737,862 (GRCm39)	H109Q		Het
Gtpbp1	T	A	15: 79,603,483 (GRCm39)	D182E		Het
Hnf4g	A	T	3: 3,713,185 (GRCm39)		probably null	Het
Hsf2	G	A	10: 57,388,188 (GRCm39)	R483H	probably damaging	Het
Kcnq4	C	T	4: 120,561,596 (GRCm39)	R491H	probably damaging	Het
Lama3	T	C	18: 12,715,602 (GRCm39)	V1686A	possibly damaging	Het
Larp6	A	G	9: 60,631,638 (GRCm39)	K137E	probably damaging	Het
Mboat1	T	G	13: 30,379,772 (GRCm39)		probably null	Het
Mdh1	T	C	11: 21,508,484 (GRCm39)	Y286C	probably damaging	Het
Mga	G	T	2: 119,792,417 (GRCm39)	K2607N	probably damaging	Het
Morf4l1	C	A	9: 89,979,433 (GRCm39)	V183F	possibly damaging	Het
Mroh4	G	A	15: 74,497,993 (GRCm39)	R196W	probably benign	Het
Muc16	C	A	9: 18,503,976 (GRCm39)	M6438I	probably damaging	Het
Myom3	A	G	4: 135,530,589 (GRCm39)	Y1167C	probably damaging	Het
Neurl3	T	C	1: 36,308,302 (GRCm39)	E170G	possibly damaging	Het
Nsd3	T	C	8: 26,156,050 (GRCm39)	I539T	probably benign	Het
Nup155	T	C	15: 8,186,177 (GRCm39)	F1313S	probably benign	Het
Nxn	A	T	11: 76,153,974 (GRCm39)	V287E	possibly damaging	Het
Or4a80	G	A	2: 89,582,443 (GRCm39)	T243I	probably benign	Het
Or7a38	A	C	10: 78,753,593 (GRCm39)	L306F	probably benign	Het
Or8c13	C	A	9: 38,091,748 (GRCm39)	V124F	probably damaging	Het
Pcdha11	G	A	18: 37,138,470 (GRCm39)	R33H	probably benign	Het
Pdzd8	A	G	19: 59,333,389 (GRCm39)	F211L	probably damaging	Het
Pear1	C	A	3: 87,661,945 (GRCm39)	V477F	possibly damaging	Het
Pex19	GTCTCTTGTCTCCGAAGGTGCTCTTGATGATTTCTCTTGTCTCCGAAGGTGCTCTTGATGATTTC	GTCTCTTGTCTCCGAAGGTGCTCTTGATGATTTC	1: 171,956,150 (GRCm39)		probably null	Het
Pidd1	A	T	7: 141,020,400 (GRCm39)	V539E	probably damaging	Het
Ptprg	A	T	14: 12,207,365 (GRCm38)	I878F	probably damaging	Het
Rabepk	T	C	2: 34,675,711 (GRCm39)	T140A	probably benign	Het
Ranbp2	G	T	10: 58,299,728 (GRCm39)	R454L	probably damaging	Het
Rnf123	C	T	9: 107,935,735 (GRCm39)	R943Q	probably null	Het
Sash1	G	A	10: 8,605,481 (GRCm39)	R970*	probably null	Het
Serpinb2	C	A	1: 107,452,422 (GRCm39)	F333L	probably damaging	Het
Shank3	T	A	15: 89,387,728 (GRCm39)		probably null	Het
Slc9a2	A	C	1: 40,765,539 (GRCm39)	I310L	probably damaging	Het
Strip2	T	A	6: 29,920,532 (GRCm39)		probably null	Het
Thoc3	T	C	13: 54,611,565 (GRCm39)	T241A	probably damaging	Het
Tmem139	T	A	6: 42,240,199 (GRCm39)	V2E	probably damaging	Het
Usp24	G	T	4: 106,244,743 (GRCm39)	V1233F	probably damaging	Het
Vnn1	A	G	10: 23,776,645 (GRCm39)	Q332R	probably benign	Het
Wac	T	A	18: 7,921,455 (GRCm39)	H530Q	probably damaging	Het
Wdr35	T	A	12: 9,028,659 (GRCm39)	N92K	probably benign	Het
Zbtb18	T	G	1: 177,274,820 (GRCm39)	L60R	probably damaging	Het
Zfp184	T	A	13: 22,144,162 (GRCm39)	C623S	probably damaging	Het
Zfp292	A	G	4: 34,806,796 (GRCm39)	Y2088H	probably damaging	Het
Zfp975	G	T	7: 42,312,096 (GRCm39)	S172R	probably benign	Het
Zswim2	G	A	2: 83,746,071 (GRCm39)	Q456*	probably null	Het

Other mutations in Pax6

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02008:Pax6	APN	2	105,522,623 (GRCm39)	critical splice donor site	probably null
IGL02256:Pax6	APN	2	105,515,115 (GRCm39)	missense	probably benign	0.16
IGL02500:Pax6	APN	2	105,523,115 (GRCm39)	missense	probably benign	0.13
beady	UTSW	2	105,522,036 (GRCm39)	missense	probably damaging	1.00
red_hots	UTSW	2	105,525,705 (GRCm39)	missense	probably benign	0.00
G1citation:Pax6	UTSW	2	105,516,268 (GRCm39)	missense	probably benign	0.04
R1067:Pax6	UTSW	2	105,510,646 (GRCm39)	missense	probably benign	0.01
R1213:Pax6	UTSW	2	105,516,258 (GRCm39)	missense	probably benign	0.13
R1494:Pax6	UTSW	2	105,521,955 (GRCm39)	missense	probably benign	0.16
R1633:Pax6	UTSW	2	105,522,063 (GRCm39)	missense	probably damaging	1.00
R2291:Pax6	UTSW	2	105,516,228 (GRCm39)	missense	probably benign	0.09
R3834:Pax6	UTSW	2	105,526,795 (GRCm39)	missense	probably benign	0.00
R3835:Pax6	UTSW	2	105,526,795 (GRCm39)	missense	probably benign	0.00
R4665:Pax6	UTSW	2	105,514,343 (GRCm39)	intron	probably benign
R4714:Pax6	UTSW	2	105,525,745 (GRCm39)	missense	possibly damaging	0.74
R4747:Pax6	UTSW	2	105,526,847 (GRCm39)	missense	probably benign
R4764:Pax6	UTSW	2	105,526,847 (GRCm39)	missense	probably benign
R4767:Pax6	UTSW	2	105,525,705 (GRCm39)	missense	probably benign	0.00
R4771:Pax6	UTSW	2	105,526,847 (GRCm39)	missense	probably benign
R4772:Pax6	UTSW	2	105,526,847 (GRCm39)	missense	probably benign
R4816:Pax6	UTSW	2	105,514,129 (GRCm39)	intron	probably benign
R4819:Pax6	UTSW	2	105,522,622 (GRCm39)	critical splice donor site	probably null
R5418:Pax6	UTSW	2	105,521,910 (GRCm39)	missense	probably benign	0.00
R5683:Pax6	UTSW	2	105,516,252 (GRCm39)	missense	probably benign	0.06
R6041:Pax6	UTSW	2	105,514,247 (GRCm39)	missense	probably damaging	1.00
R6263:Pax6	UTSW	2	105,523,199 (GRCm39)	critical splice donor site	probably null
R6651:Pax6	UTSW	2	105,516,175 (GRCm39)	missense	probably benign	0.00
R6822:Pax6	UTSW	2	105,516,268 (GRCm39)	missense	probably benign	0.04
R7042:Pax6	UTSW	2	105,526,718 (GRCm39)	missense	probably benign
R7102:Pax6	UTSW	2	105,522,604 (GRCm39)	missense	probably damaging	0.98
R7294:Pax6	UTSW	2	105,515,246 (GRCm39)	nonsense	probably null
R7761:Pax6	UTSW	2	105,522,036 (GRCm39)	missense	probably damaging	1.00
R7948:Pax6	UTSW	2	105,516,222 (GRCm39)	missense	probably benign
R8882:Pax6	UTSW	2	105,521,963 (GRCm39)	missense	possibly damaging	0.96
R9151:Pax6	UTSW	2	105,523,097 (GRCm39)	missense	probably benign	0.10
R9796:Pax6	UTSW	2	105,522,541 (GRCm39)	missense	probably damaging	1.00
Z1177:Pax6	UTSW	2	105,516,161 (GRCm39)	missense	possibly damaging	0.64

Predicted Primers

PCR Primer
(F):5'- TTGTAGAATGTACCTATGCAGCTG -3'
(R):5'- ATGAGCAACACAGATCCGCG -3'

Sequencing Primer
(F):5'- GAATGTACCTATGCAGCTGTTATTG -3'
(R):5'- GCGATCCAACAGCCTGTG -3'

Posted On

2019-05-15