Mutagenetix > Incidental Mutation

Incidental Mutation 'R1523:Pax4'

167622

Institutional Source

Beutler Lab

Gene Symbol

Pax4

Ensembl Gene

ENSMUSG00000029706

Gene Name

paired box 4

Synonyms

Pax-4

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R1523 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

28442333-28449339 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 28444840 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 203 (L203P)

Ref Sequence

ENSEMBL: ENSMUSP00000126000 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000031718] [ENSMUST00000164519] [ENSMUST00000171089] [ENSMUST00000174194]

AlphaFold

P32115

Predicted Effect

probably damaging
Transcript: ENSMUST00000031718
AA Change: L203P

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

SMART Domains

Protein: ENSMUSP00000031718
Gene: ENSMUSG00000029706
AA Change: L203P

Domain	Start	End	E-Value	Type
PAX	5	129	8.08e-83	SMART
HOX	170	232	8.92e-24	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000164519
AA Change: L203P

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

SMART Domains

Protein: ENSMUSP00000131301
Gene: ENSMUSG00000029706
AA Change: L203P

Domain	Start	End	E-Value	Type
PAX	5	129	8.08e-83	SMART
HOX	170	232	8.92e-24	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000171089
AA Change: L203P

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

SMART Domains

Protein: ENSMUSP00000126000
Gene: ENSMUSG00000029706
AA Change: L203P

Domain	Start	End	E-Value	Type
PAX	5	129	8.08e-83	SMART
HOX	170	232	8.92e-24	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000174036

Predicted Effect

probably damaging
Transcript: ENSMUST00000174194
AA Change: L161P

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000134470
Gene: ENSMUSG00000029706
AA Change: L161P

Domain	Start	End	E-Value	Type
PAX	5	129	8.08e-83	SMART
HOX	139	190	2.22e-10	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000174423

Coding Region Coverage

1x: 99.2%
3x: 98.3%
10x: 96.3%
20x: 92.9%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is a member of the paired box (PAX) family of transcription factors. Members of this gene family typically contain a paired box domain, an octapeptide, and a paired-type homeodomain. These genes play critical roles during fetal development and cancer growth. The paired box 4 gene is involved in pancreatic islet development and mouse studies have demonstrated a role for this gene in differentiation of insulin-producing beta cells. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for this targeted mutation lack mature insulin- and somatostatin-producing cells (beta and delta, respectively) in the pancreas, but contain glucagon-producing alpha cells in considerably higher numbers relative to wild-type mice. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 82 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700020L24Rik	G	T	11: 83,331,232 (GRCm39)	E48*	probably null	Het
4930503B20Rik	A	G	3: 146,356,864 (GRCm39)	S15P	probably damaging	Het
5530400C23Rik	A	G	6: 133,271,256 (GRCm39)	E100G	possibly damaging	Het
Abcg2	T	C	6: 58,662,679 (GRCm39)	F507S	possibly damaging	Het
Adgrf5	A	T	17: 43,761,044 (GRCm39)	Q913L	probably benign	Het
Ak7	A	T	12: 105,732,867 (GRCm39)	N537I	probably benign	Het
Anks1	T	A	17: 28,270,629 (GRCm39)		probably null	Het
Arhgap32	T	A	9: 32,168,048 (GRCm39)	V677D	probably damaging	Het
Ark2c	G	A	18: 77,550,634 (GRCm39)	T98I	probably benign	Het
Arnt	C	T	3: 95,396,965 (GRCm39)	P466L	possibly damaging	Het
Arrb1	T	G	7: 99,243,872 (GRCm39)	L274R	probably damaging	Het
Atf2	A	T	2: 73,693,552 (GRCm39)	D3E	probably damaging	Het
Baz2b	C	T	2: 59,798,981 (GRCm39)	R381Q	possibly damaging	Het
Cacna1g	C	T	11: 94,333,555 (GRCm39)		probably null	Het
Ccr10	C	T	11: 101,064,501 (GRCm39)	R343Q	probably damaging	Het
Clca3a2	G	T	3: 144,777,405 (GRCm39)	S822*	probably null	Het
Col12a1	A	T	9: 79,568,278 (GRCm39)	Y1649N	probably benign	Het
Col23a1	G	A	11: 51,452,743 (GRCm39)		probably null	Het
Cp	T	C	3: 20,043,229 (GRCm39)	Y1006H	probably benign	Het
Ctbs	A	G	3: 146,160,735 (GRCm39)	T101A	probably benign	Het
Cyp4a31	T	C	4: 115,426,951 (GRCm39)	F170L	probably benign	Het
Dock1	A	C	7: 134,345,976 (GRCm39)	I173L	possibly damaging	Het
Dock4	A	G	12: 40,743,024 (GRCm39)	D393G	possibly damaging	Het
Dsg1a	T	A	18: 20,455,374 (GRCm39)	S113T	probably damaging	Het
Epha3	T	C	16: 63,431,311 (GRCm39)	D530G	probably damaging	Het
Erbb4	T	A	1: 68,435,411 (GRCm39)	H162L	possibly damaging	Het
Fam131c	C	T	4: 141,110,142 (GRCm39)	T180I	probably benign	Het
Fndc1	A	G	17: 7,992,041 (GRCm39)	S552P	unknown	Het
Foxf1	A	G	8: 121,811,297 (GRCm39)		probably null	Het
Frem2	T	C	3: 53,562,828 (GRCm39)	T560A	possibly damaging	Het
Gabra4	G	A	5: 71,790,975 (GRCm39)	T289M	probably damaging	Het
Gcnt1	A	G	19: 17,307,197 (GRCm39)	V176A	probably damaging	Het
Gemin8	G	A	X: 164,963,644 (GRCm39)	S100N	probably benign	Het
Gm1527	T	C	3: 28,974,567 (GRCm39)	I460T	probably damaging	Het
Gm6729	A	G	10: 86,376,039 (GRCm39)		noncoding transcript	Het
Gprin2	T	C	14: 33,917,036 (GRCm39)	S245G	probably benign	Het
Gsdmc	A	T	15: 63,675,479 (GRCm39)	I112N	probably damaging	Het
Hspb6	A	G	7: 30,252,848 (GRCm39)	D30G	probably benign	Het
Hydin	A	G	8: 111,259,903 (GRCm39)	D2625G	probably benign	Het
Iqca1	C	A	1: 90,070,453 (GRCm39)	G133V	probably null	Het
Irf2	T	A	8: 47,290,875 (GRCm39)		probably null	Het
Kdm3b	T	C	18: 34,926,226 (GRCm39)		probably null	Het
Khdc3	G	A	9: 73,010,773 (GRCm39)	E208K	possibly damaging	Het
Kifc1	A	T	17: 34,102,636 (GRCm39)	S263T	probably benign	Het
Lrig3	C	A	10: 125,844,567 (GRCm39)	T677K	probably damaging	Het
Magec2	T	A	X: 61,334,512 (GRCm39)	D177E	probably benign	Het
Mapkapk3	A	T	9: 107,140,822 (GRCm39)		probably null	Het
Mertk	T	C	2: 128,632,248 (GRCm39)		probably null	Het
Metrn	A	G	17: 26,013,951 (GRCm39)	*292R	probably null	Het
Mllt6	G	T	11: 97,555,849 (GRCm39)	A60S	probably damaging	Het
Mmp21	T	C	7: 133,280,774 (GRCm39)	I65M	probably benign	Het
Myo7b	A	G	18: 32,099,929 (GRCm39)	L1651P	probably damaging	Het
Nhsl1	A	G	10: 18,284,103 (GRCm39)	S15G	probably benign	Het
Nos1ap	T	C	1: 170,165,687 (GRCm39)	D192G	probably benign	Het
Nrcam	A	G	12: 44,619,032 (GRCm39)	T844A	probably damaging	Het
Pbld2	T	C	10: 62,912,212 (GRCm39)	I280T	probably benign	Het
Pclo	A	G	5: 14,838,420 (GRCm39)	Y4681C	unknown	Het
Phyhip	T	A	14: 70,699,200 (GRCm39)	M1K	probably null	Het
Plppr4	T	C	3: 117,116,490 (GRCm39)	N456D	probably damaging	Het
Prpf31	T	C	7: 3,643,856 (GRCm39)	Y473H	probably damaging	Het
Rapgef2	A	T	3: 79,000,056 (GRCm39)	V564D	probably damaging	Het
Rexo1	T	C	10: 80,378,585 (GRCm39)	S1123G	probably benign	Het
Rnasel	C	A	1: 153,631,759 (GRCm39)	Q513K	probably damaging	Het
Rnf213	T	C	11: 119,332,714 (GRCm39)	V2641A	probably damaging	Het
Rnf40	G	T	7: 127,189,787 (GRCm39)	R184L	probably damaging	Het
Rnf8	A	G	17: 29,845,946 (GRCm39)	K179R	probably damaging	Het
Sipa1l2	C	T	8: 126,174,352 (GRCm39)	D1309N	possibly damaging	Het
Slc25a38	T	A	9: 119,952,769 (GRCm39)	M307K	possibly damaging	Het
Snx33	T	C	9: 56,833,466 (GRCm39)	D201G	possibly damaging	Het
Sulf1	T	A	1: 12,887,574 (GRCm39)	Y249*	probably null	Het
Sult2a4	G	A	7: 13,643,785 (GRCm39)	Q261*	probably null	Het
Syndig1	G	A	2: 149,845,154 (GRCm39)	A226T	probably damaging	Het
Tcaf2	C	T	6: 42,601,385 (GRCm39)	W891*	probably null	Het
Tcf15	C	A	2: 151,985,808 (GRCm39)	T88K	probably damaging	Het
Tmem19	A	T	10: 115,183,122 (GRCm39)	M117K	probably damaging	Het
Trim32	T	C	4: 65,532,241 (GRCm39)	L266P	probably benign	Het
Vmn2r11	T	C	5: 109,201,707 (GRCm39)	I266V	probably benign	Het
Vmn2r73	A	T	7: 85,519,486 (GRCm39)	Y491N	probably benign	Het
Wrn	C	T	8: 33,782,744 (GRCm39)	E486K	probably benign	Het
Zfp457	T	C	13: 67,441,501 (GRCm39)	E262G	probably damaging	Het
Zfp598	A	G	17: 24,897,603 (GRCm39)	D308G	probably null	Het
Zup1	T	C	10: 33,803,436 (GRCm39)	I549M	probably damaging	Het

Other mutations in Pax4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL03150:Pax4	APN	6	28,444,338 (GRCm39)	missense	probably null	1.00
R0034:Pax4	UTSW	6	28,442,448 (GRCm39)	missense	probably benign
R1828:Pax4	UTSW	6	28,443,446 (GRCm39)	missense	probably benign	0.02
R2014:Pax4	UTSW	6	28,446,209 (GRCm39)	missense	probably benign	0.01
R4037:Pax4	UTSW	6	28,443,882 (GRCm39)	missense	probably benign	0.00
R5117:Pax4	UTSW	6	28,446,278 (GRCm39)	missense	probably benign	0.43
R5163:Pax4	UTSW	6	28,446,269 (GRCm39)	missense	probably damaging	1.00
R5182:Pax4	UTSW	6	28,444,368 (GRCm39)	missense	probably benign	0.19
R5200:Pax4	UTSW	6	28,445,138 (GRCm39)	missense	probably damaging	1.00
R5713:Pax4	UTSW	6	28,446,184 (GRCm39)	missense	probably damaging	1.00
R5902:Pax4	UTSW	6	28,447,126 (GRCm39)	missense	probably benign	0.22
R6185:Pax4	UTSW	6	28,446,347 (GRCm39)	missense	probably damaging	1.00
R6744:Pax4	UTSW	6	28,442,396 (GRCm39)	missense	probably benign	0.00
R6923:Pax4	UTSW	6	28,447,118 (GRCm39)	critical splice donor site	probably null
R7054:Pax4	UTSW	6	28,446,322 (GRCm39)	missense	probably damaging	1.00
R7165:Pax4	UTSW	6	28,446,136 (GRCm39)	missense	probably damaging	1.00
R8133:Pax4	UTSW	6	28,442,513 (GRCm39)	missense	probably benign
R9110:Pax4	UTSW	6	28,445,201 (GRCm39)	missense	probably benign
R9438:Pax4	UTSW	6	28,446,185 (GRCm39)	missense	possibly damaging	0.94
Z1177:Pax4	UTSW	6	28,442,462 (GRCm39)	missense	possibly damaging	0.71
Z1177:Pax4	UTSW	6	28,442,459 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TGTCCCTGACCTGGACTCAGAAAG -3'
(R):5'- CACTGGAGAAAGGTGCTGGACTTG -3'

Sequencing Primer
(F):5'- Atctctctctctctctctctctctc -3'
(R):5'- CTTATGGGTGAAGGCTGACAG -3'

Posted On

2014-04-13