Mutagenetix > Incidental Mutation

Incidental Mutation 'R2051:Pax8'

226378

Institutional Source

Beutler Lab

Gene Symbol

Pax8

Ensembl Gene

ENSMUSG00000026976

Gene Name

paired box 8

Synonyms

Pax-8

MMRRC Submission

040058-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R2051 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

24420560-24475599 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 24436508 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 281 (S281P)

Ref Sequence

ENSEMBL: ENSMUSP00000115194 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000028355] [ENSMUST00000136228] [ENSMUST00000149294] [ENSMUST00000153535] [ENSMUST00000153601]

AlphaFold

Q00288

Predicted Effect

probably benign
Transcript: ENSMUST00000028355
AA Change: S281P

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000028355
Gene: ENSMUSG00000026976
AA Change: S281P

Domain	Start	End	E-Value	Type
PAX	9	133	3.1e-93	SMART
SCOP:d1ftt__	221	247	8e-5	SMART
low complexity region	311	328	N/A	INTRINSIC
Pfam:Pax2_C	344	456	2.3e-57	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000135829

Predicted Effect

probably benign
Transcript: ENSMUST00000136228
AA Change: S282P

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000133316
Gene: ENSMUSG00000026976
AA Change: S282P

Domain	Start	End	E-Value	Type
PAX	9	134	9.13e-91	SMART
SCOP:d1fjla_	221	248	8e-5	SMART
low complexity region	312	329	N/A	INTRINSIC
Pfam:Pax2_C	342	404	1.2e-25	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000149294
AA Change: S281P

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000115194
Gene: ENSMUSG00000026976
AA Change: S281P

Domain	Start	End	E-Value	Type
PAX	9	133	3.1e-93	SMART
SCOP:d1ftt__	221	247	3e-4	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000153535

SMART Domains

Protein: ENSMUSP00000120319
Gene: ENSMUSG00000026976

Domain	Start	End	E-Value	Type
PAX	9	134	9.13e-91	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000153601

SMART Domains

Protein: ENSMUSP00000134343
Gene: ENSMUSG00000026976

Domain	Start	End	E-Value	Type
SCOP:d1ftt__	23	49	1e-4	SMART

Coding Region Coverage

1x: 99.1%
3x: 98.6%
10x: 97.3%
20x: 95.1%

Validation Efficiency

MGI Phenotype

FUNCTION: This gene encodes a member of a family of transcription factors that contain a characteristic N-terminal paired DNA-binding domain. The encoded protein is important for proper differentiation of the thyroid and the kidney. Alternatively spliced transcript variants of this gene have been described, but their full-length nature is not known. [provided by RefSeq, Mar 2013]
PHENOTYPE: Homozygotes for targeted mutations exhibit severe hypothyroidism due to thyroid follicular cell aplasia, male infertility, deafness, ataxia, growth retardation, tiny spleens, impaired ossification of long bones and maturation of the small intestine, fatty livers, and lethality around weaning age. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 99 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700123K08Rik	G	A	5: 138,564,185	T98M	probably damaging	Het
4932414N04Rik	G	T	2: 68,711,048	K10N	possibly damaging	Het
Aadat	T	A	8: 60,507,139	S40T	probably benign	Het
Abca13	A	G	11: 9,328,098	I3093V	probably benign	Het
Acacb	A	T	5: 114,245,890	Q2160L	probably damaging	Het
Acp6	G	T	3: 97,168,017	S189I	probably benign	Het
Actr5	A	T	2: 158,632,293	M339L	probably benign	Het
Adcy1	A	T	11: 7,161,885	K917*	probably null	Het
Adgrg5	C	T	8: 94,942,067	R504C	probably benign	Het
Ago1	T	C	4: 126,460,453	H188R	probably benign	Het
Akap9	T	A	5: 3,975,685	C23*	probably null	Het
Ank3	T	C	10: 69,898,090	I728T	probably damaging	Het
Ankrd50	A	G	3: 38,454,493	S1242P	probably benign	Het
Arhgap29	G	A	3: 121,981,860	R84H	probably benign	Het
Arhgef10	A	G	8: 14,945,320	D7G	probably null	Het
Arid4b	A	G	13: 14,187,645	E898G	probably damaging	Het
Atrnl1	A	G	19: 57,691,849	N727S	probably benign	Het
Baalc	G	T	15: 38,933,234		probably benign	Het
Cdc25c	G	C	18: 34,738,239	L275V	probably damaging	Het
Chpf2	G	T	5: 24,591,276	V407L	probably benign	Het
Chrnb3	C	A	8: 27,386,811	N84K	probably damaging	Het
Cnot1	A	G	8: 95,724,593	F2171L	possibly damaging	Het
Csmd3	C	T	15: 48,621,993		probably null	Het
Cux1	T	A	5: 136,332,658	Q138L	probably damaging	Het
Cyp2c65	A	G	19: 39,082,231	N286S	probably benign	Het
Dclre1b	T	C	3: 103,809,040	S17G	possibly damaging	Het
Dlgap5	A	G	14: 47,411,484	S221P	probably benign	Het
Dnah1	T	G	14: 31,279,123	T2422P	probably damaging	Het
Enpp1	A	G	10: 24,711,804		probably null	Het
Erbb2	T	C	11: 98,420,172	C53R	probably damaging	Het
Exoc8	A	G	8: 124,895,480	V716A	probably benign	Het
Fam193a	T	A	5: 34,462,150	D766E	probably benign	Het
Fbxo43	C	A	15: 36,162,132	G310W	probably damaging	Het
Fcgbp	C	T	7: 28,120,360	T2504I	probably damaging	Het
Fnbp4	C	T	2: 90,757,532	P418L	probably benign	Het
Gjd2	T	C	2: 114,011,058	T313A	probably damaging	Het
Gm12695	T	A	4: 96,769,771	R54W	probably damaging	Het
Gm128	T	C	3: 95,240,740	D81G	possibly damaging	Het
Gm21834	A	G	17: 57,741,768	V151A	possibly damaging	Het
Grhl1	T	A	12: 24,586,152		probably null	Het
Hcn1	C	T	13: 117,976,083	T861I	probably damaging	Het
Herc6	C	A	6: 57,625,976	Q547K	probably benign	Het
Iqgap3	T	C	3: 88,120,167	L699P	probably damaging	Het
Kank4	T	C	4: 98,780,102	D36G	probably damaging	Het
Kcnk5	A	T	14: 20,142,209	S295T	probably damaging	Het
Krt18	T	C	15: 102,029,500	V144A	probably benign	Het
Krtap9-5	A	G	11: 99,949,204	I244V	unknown	Het
Leng1	T	G	7: 3,665,401	N16T	probably damaging	Het
Lss	A	G	10: 76,531,878	K15E	possibly damaging	Het
Mastl	G	T	2: 23,132,824	A629E	possibly damaging	Het
Mavs	G	C	2: 131,240,450	A85P	possibly damaging	Het
Nav3	T	C	10: 109,824,675	D678G	probably damaging	Het
Nsd3	T	G	8: 25,691,089	S906A	probably damaging	Het
Nsfl1c	A	G	2: 151,503,082	N118S	probably damaging	Het
Nup205	T	A	6: 35,230,516	M1501K	probably benign	Het
Olfr1178	C	T	2: 88,391,538	T97M	possibly damaging	Het
Olfr429	T	A	1: 174,089,219	Y60N	possibly damaging	Het
Pds5b	T	G	5: 150,748,190	I433R	probably damaging	Het
Peg3	T	C	7: 6,712,721	N117D	probably damaging	Het
Pfkm	A	T	15: 98,131,692	D728V	probably benign	Het
Phkb	T	C	8: 86,049,821		probably null	Het
Pkp4	T	C	2: 59,334,904	V704A	probably benign	Het
Ppfia2	T	A	10: 106,837,299	S501T	probably damaging	Het
Ptpru	T	C	4: 131,819,087	E284G	possibly damaging	Het
Ror1	C	T	4: 100,407,868	R180*	probably null	Het
Ryr3	T	A	2: 112,756,641	Y2666F	probably damaging	Het
Sec23a	C	A	12: 58,990,968		probably null	Het
Sertad3	C	T	7: 27,476,269	Q43*	probably null	Het
Setd2	C	T	9: 110,550,890	H1258Y	probably benign	Het
Sharpin	A	G	15: 76,348,207	S177P	probably benign	Het
Skap1	T	C	11: 96,541,463	F86S	possibly damaging	Het
Slc8a2	T	C	7: 16,141,015	I396T	probably damaging	Het
Slc9a2	T	C	1: 40,726,437	F329S	probably damaging	Het
Slx4ip	C	T	2: 137,066,205	L161F	possibly damaging	Het
Sox4	A	G	13: 28,952,781	S81P	probably damaging	Het
Ssc4d	G	T	5: 135,970,264	S28R	probably benign	Het
St8sia2	C	T	7: 73,943,202	G369S	possibly damaging	Het
Swt1	T	C	1: 151,372,330	Y836C	probably damaging	Het
Taar7d	A	G	10: 24,028,006	D262G	probably benign	Het
Taar8b	T	A	10: 24,091,314	L327F	probably benign	Het
Tars	A	T	15: 11,393,194	L138*	probably null	Het
Tbcd	A	T	11: 121,453,670	D75V	probably damaging	Het
Tesc	A	G	5: 118,046,329	I25V	probably damaging	Het
Tmem132e	G	T	11: 82,440,438	S407I	probably damaging	Het
Tmem50b	C	A	16: 91,580,292	A95S	possibly damaging	Het
Tnr	T	C	1: 159,892,033	I960T	probably benign	Het
Tns2	C	T	15: 102,108,934	R281C	probably damaging	Het
Tpcn1	G	C	5: 120,543,388	P532A	probably damaging	Het
Tpsb2	T	C	17: 25,366,565		probably benign	Het
Triobp	C	A	15: 79,004,540	H1948Q	probably damaging	Het
Tshb	T	C	3: 102,777,541	I116V	probably benign	Het
Ttc13	A	T	8: 124,672,211		probably null	Het
Usp34	A	T	11: 23,464,468	T2804S	probably damaging	Het
Vmn2r18	A	T	5: 151,562,551	C493S	possibly damaging	Het
Vmn2r2	T	C	3: 64,117,345	K605R	possibly damaging	Het
Vmn2r37	T	C	7: 9,217,793	Y357C	probably damaging	Het
Zc3h6	T	G	2: 129,015,618	S686A	possibly damaging	Het
Zfp608	G	A	18: 54,988,314	P67L	probably benign	Het
Zyg11a	T	C	4: 108,192,047		probably benign	Het

Other mutations in Pax8

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00392:Pax8	APN	2	24443132	missense	probably damaging	1.00
IGL01118:Pax8	APN	2	24442932	splice site	probably benign
IGL01141:Pax8	APN	2	24441150	missense	probably damaging	1.00
IGL01338:Pax8	APN	2	24435919	missense	possibly damaging	0.93
IGL01801:Pax8	APN	2	24444564	critical splice donor site	probably null
IGL02159:Pax8	APN	2	24440788	missense	possibly damaging	0.56
IGL02727:Pax8	APN	2	24441630	missense	probably damaging	0.98
IGL02887:Pax8	APN	2	24444615	missense	probably damaging	1.00
IGL03134:Pax8	UTSW	2	24421391	unclassified	probably benign
R1499:Pax8	UTSW	2	24429596	missense	possibly damaging	0.92
R1756:Pax8	UTSW	2	24435821	missense	probably damaging	0.98
R2234:Pax8	UTSW	2	24443102	missense	probably damaging	1.00
R2289:Pax8	UTSW	2	24440740	missense	probably benign	0.00
R2306:Pax8	UTSW	2	24443045	missense	probably damaging	1.00
R4328:Pax8	UTSW	2	24441651	missense	possibly damaging	0.92
R4434:Pax8	UTSW	2	24429609	missense	possibly damaging	0.93
R4592:Pax8	UTSW	2	24443189	intron	probably benign
R4610:Pax8	UTSW	2	24421583	missense	probably damaging	0.99
R4873:Pax8	UTSW	2	24441640	missense	probably benign	0.04
R4875:Pax8	UTSW	2	24441640	missense	probably benign	0.04
R5394:Pax8	UTSW	2	24442910	intron	probably benign
R5924:Pax8	UTSW	2	24421622	missense	probably damaging	0.97
R6796:Pax8	UTSW	2	24441086	missense	probably benign	0.04
R7658:Pax8	UTSW	2	24436511	missense	probably benign	0.00
R7660:Pax8	UTSW	2	24436561	missense	probably benign
R7690:Pax8	UTSW	2	24441670	missense	probably benign	0.37
R7775:Pax8	UTSW	2	24435901	missense	possibly damaging	0.93
R7793:Pax8	UTSW	2	24429597	missense	possibly damaging	0.85
R7824:Pax8	UTSW	2	24435901	missense	possibly damaging	0.93
R7859:Pax8	UTSW	2	24421555	missense	possibly damaging	0.93
R8225:Pax8	UTSW	2	24422971	missense	probably damaging	0.99
R8520:Pax8	UTSW	2	24443022	missense	probably damaging	1.00
R9651:Pax8	UTSW	2	24441161	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GTCCAAAGACTGAAGGCACC -3'
(R):5'- CAGGGTGCTTTTCTTAGGAAGAC -3'

Sequencing Primer
(F):5'- CCAGTCAGCAGAGCCTATTTC -3'
(R):5'- TTAGGAAGACTAGCATCTCCCACTG -3'

Posted On

2014-09-17