Mutagenetix > Incidental Mutation

Incidental Mutation 'R7165:Pax4'

557867

Institutional Source

Beutler Lab

Gene Symbol

Pax4

Ensembl Gene

ENSMUSG00000029706

Gene Name

paired box 4

Synonyms

Pax-4

MMRRC Submission

045262-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7165 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

28442333-28449339 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 28446136 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Proline to Leucine at position 119 (P119L)

Ref Sequence

ENSEMBL: ENSMUSP00000031718 (fasta)

Gene Model

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

AlphaFold

P32115

Predicted Effect

probably damaging
Transcript: ENSMUST00000031718
AA Change: P119L

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

SMART Domains

Protein: ENSMUSP00000031718
Gene: ENSMUSG00000029706
AA Change: P119L

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: P119L

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

SMART Domains

Protein: ENSMUSP00000131301
Gene: ENSMUSG00000029706
AA Change: P119L

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: P119L

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

SMART Domains

Protein: ENSMUSP00000126000
Gene: ENSMUSG00000029706
AA Change: P119L

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: ENSMUST00000174194
AA Change: P119L

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

SMART Domains

Protein: ENSMUSP00000134470
Gene: ENSMUSG00000029706
AA Change: P119L

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.8%

Validation Efficiency

98% (79/81)

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: 81 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acoxl	C	A	2: 127,965,028 (GRCm39)	A624E	probably benign	Het
Adnp	A	G	2: 168,024,287 (GRCm39)	S1003P	probably benign	Het
Akap8l	T	C	17: 32,557,386 (GRCm39)	D75G	probably damaging	Het
Ap4e1	A	T	2: 126,905,238 (GRCm39)	T970S	possibly damaging	Het
Asb3	T	A	11: 30,979,029 (GRCm39)	N106K	probably damaging	Het
Atp1a3	T	C	7: 24,678,390 (GRCm39)	I988V	probably benign	Het
Camta1	A	G	4: 151,169,157 (GRCm39)	L198S	possibly damaging	Het
Ccdc77	A	G	6: 120,327,193 (GRCm39)	L84P	probably damaging	Het
Ccne1	C	T	7: 37,798,726 (GRCm39)	A298T	probably damaging	Het
Cdc42bpb	T	A	12: 111,287,951 (GRCm39)	E532V	probably damaging	Het
Clasp2	G	A	9: 113,615,467 (GRCm39)		probably null	Het
Cntnap5b	C	A	1: 100,003,887 (GRCm39)	T289N	possibly damaging	Het
Dcun1d4	A	G	5: 73,648,538 (GRCm39)		probably null	Het
Dnah14	A	G	1: 181,532,100 (GRCm39)	T2296A	probably benign	Het
Dnaja4	A	T	9: 54,616,516 (GRCm39)	Q173L	probably damaging	Het
Dync2h1	G	A	9: 7,050,479 (GRCm39)	A3190V	probably benign	Het
Frrs1	T	A	3: 116,671,920 (GRCm39)	I6N	probably benign	Het
Fscn1	T	C	5: 142,957,801 (GRCm39)	V477A	probably benign	Het
Fsip2	G	A	2: 82,811,541 (GRCm39)	G2620E	possibly damaging	Het
Glp1r	C	T	17: 31,128,297 (GRCm39)	A92V	probably benign	Het
Gpr137b	A	T	13: 13,542,205 (GRCm39)	M204K	probably damaging	Het
Gstm1	A	G	3: 107,923,693 (GRCm39)	V104A	probably benign	Het
Gtf2e1	A	T	16: 37,356,228 (GRCm39)	N101K	probably damaging	Het
Igsf9b	T	C	9: 27,245,536 (GRCm39)	F1168L	probably benign	Het
Itpr2	A	T	6: 146,195,589 (GRCm39)	V1629E	probably damaging	Het
Kat14	A	G	2: 144,235,918 (GRCm39)	T428A	probably benign	Het
Kif21b	T	C	1: 136,077,186 (GRCm39)	Y403H	probably damaging	Het
Lpcat1	G	C	13: 73,662,649 (GRCm39)	A533P	probably benign	Het
Lrp2	A	T	2: 69,336,917 (GRCm39)	I1285N	probably damaging	Het
Mboat1	A	T	13: 30,408,398 (GRCm39)	Y187F	probably damaging	Het
Mkx	T	C	18: 7,002,525 (GRCm39)	N7S	probably damaging	Het
Mrps27	A	T	13: 99,551,307 (GRCm39)	T357S	possibly damaging	Het
Muc21	A	G	17: 35,932,870 (GRCm39)	S439P	unknown	Het
Naa35	A	G	13: 59,733,997 (GRCm39)	D9G	probably benign	Het
Ncoa4	T	A	14: 31,897,940 (GRCm39)	N253K	probably damaging	Het
Neb	A	G	2: 52,160,318 (GRCm39)	Y2232H	probably damaging	Het
Nlk	G	A	11: 78,481,793 (GRCm39)	Q223*	probably null	Het
Npas2	T	A	1: 39,331,798 (GRCm39)	I71N	possibly damaging	Het
Nup107	T	A	10: 117,609,267 (GRCm39)	Q364L	probably damaging	Het
Or8g17	T	A	9: 38,934,566 (GRCm39)		probably benign	Het
Otof	C	T	5: 30,532,964 (GRCm39)	G1593S	probably damaging	Het
Panx3	G	T	9: 37,575,381 (GRCm39)	H160Q	probably damaging	Het
Pappa	T	A	4: 65,180,110 (GRCm39)	H990Q	probably damaging	Het
Pcdhb20	T	A	18: 37,638,123 (GRCm39)	D216E	probably damaging	Het
Pcdhgb8	T	A	18: 37,896,231 (GRCm39)	S434T	possibly damaging	Het
Pf4	T	C	5: 90,920,448 (GRCm39)	V3A	probably benign	Het
Phf24	T	C	4: 42,938,325 (GRCm39)	S229P	probably benign	Het
Plcd3	A	G	11: 102,970,439 (GRCm39)	F200S	probably damaging	Het
Ppp1r16a	A	G	15: 76,575,104 (GRCm39)	H4R	probably damaging	Het
Pramel15	A	G	4: 144,099,389 (GRCm39)	C459R	probably damaging	Het
Prdm10	A	G	9: 31,227,738 (GRCm39)		probably null	Het
Prim2	A	G	1: 33,667,474 (GRCm39)		probably null	Het
Prkg1	T	A	19: 30,562,599 (GRCm39)	H550L	probably damaging	Het
Prrc2c	G	T	1: 162,501,086 (GRCm39)	T2809N	possibly damaging	Het
Ptx3	A	G	3: 66,132,391 (GRCm39)	E304G	probably benign	Het
Ralgps2	A	G	1: 156,655,818 (GRCm39)	F369L	probably benign	Het
Rasgrp1	G	A	2: 117,168,885 (GRCm39)	T31I	probably benign	Het
Rbsn	A	T	6: 92,168,315 (GRCm39)	M373K	probably benign	Het
Rnf168	C	G	16: 32,101,179 (GRCm39)	R120G	probably benign	Het
Rp1	A	G	1: 4,420,140 (GRCm39)	I324T	probably damaging	Het
Samd11	T	C	4: 156,336,747 (GRCm39)	S31G	probably benign	Het
Sart3	A	T	5: 113,884,056 (GRCm39)	L652Q	probably benign	Het
Scrn2	A	G	11: 96,924,634 (GRCm39)	E421G	probably benign	Het
Sik2	A	T	9: 50,828,397 (GRCm39)	L215Q	probably damaging	Het
Speer4a3	AACT	A	5: 26,155,849 (GRCm39)		probably benign	Het
Stard9	A	T	2: 120,534,639 (GRCm39)	K3632M	probably damaging	Het
Swt1	A	T	1: 151,264,428 (GRCm39)	D695E	probably damaging	Het
Tead3	T	A	17: 28,552,228 (GRCm39)	M357L	probably benign	Het
Tgfbi	A	T	13: 56,775,829 (GRCm39)	T292S	probably damaging	Het
Tmc7	T	C	7: 118,155,157 (GRCm39)	H247R	probably benign	Het
Trmt10b	T	A	4: 45,308,549 (GRCm39)	D236E	probably damaging	Het
Tshz1	C	A	18: 84,034,052 (GRCm39)	V119L	probably damaging	Het
Ttn	A	C	2: 76,658,258 (GRCm39)	V12374G	unknown	Het
Tubgcp2	A	G	7: 139,585,274 (GRCm39)	Y484H	probably damaging	Het
Ubr4	G	C	4: 139,177,824 (GRCm39)	A1947P		Het
Uggt1	A	C	1: 36,194,188 (GRCm39)	V1350G	probably benign	Het
Vmn1r173	A	T	7: 23,402,076 (GRCm39)	M104L	probably benign	Het
Xirp1	A	T	9: 119,848,113 (GRCm39)	C257S	probably damaging	Het
Zfyve26	A	G	12: 79,327,179 (GRCm39)	S724P	probably damaging	Het
Zmpste24	A	T	4: 120,940,091 (GRCm39)	L185Q	probably null	Het
Zpld1	G	A	16: 55,052,594 (GRCm39)	A340V	probably benign	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
R1523:Pax4	UTSW	6	28,444,840 (GRCm39)	missense	probably damaging	1.00
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
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'- CTTTCCCCAGAGTAGCAGCTTG -3'
(R):5'- AGATCCTAGGACGCTACTACCG -3'

Sequencing Primer
(F):5'- AGAGTAGCAGCTTGACGCACTC -3'
(R):5'- CGCACAGGTGTCTTGGAAC -3'

Posted On

2019-06-26