Mutagenetix > Incidental Mutation

Incidental Mutation 'R0027:Prr29'

44530

Institutional Source

Beutler Lab

Gene Symbol

Prr29

Ensembl Gene

ENSMUSG00000009210

Gene Name

proline rich 29

Synonyms

2310007L24Rik

MMRRC Submission

038322-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0027 (G1) of strain 730

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

106256298-106268384 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 106267102 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 89 (E89G)

Ref Sequence

ENSEMBL: ENSMUSP00000139960 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000001055] [ENSMUST00000009354] [ENSMUST00000106813] [ENSMUST00000106816] [ENSMUST00000141146] [ENSMUST00000190268] [ENSMUST00000185986] [ENSMUST00000190795] [ENSMUST00000188561]

AlphaFold

B1ARI9

Predicted Effect

probably benign
Transcript: ENSMUST00000001055

SMART Domains

Protein: ENSMUSP00000001055
Gene: ENSMUSG00000001029

Domain	Start	End	E-Value	Type
signal peptide	1	21	N/A	INTRINSIC
Pfam:ICAM_N	22	114	8.6e-45	PFAM
Blast:IG_like	119	215	2e-36	BLAST
transmembrane domain	224	246	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000009354
AA Change: E39G

PolyPhen 2 Score 0.188 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000009354
Gene: ENSMUSG00000009210
AA Change: E39G

Domain	Start	End	E-Value	Type
Pfam:DUF4587	1	60	9.4e-20	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000106809

Predicted Effect

probably benign
Transcript: ENSMUST00000106813

SMART Domains

Protein: ENSMUSP00000102426
Gene: ENSMUSG00000001029

Domain	Start	End	E-Value	Type
signal peptide	1	21	N/A	INTRINSIC
Pfam:ICAM_N	22	114	2.8e-45	PFAM
Blast:IG_like	119	161	9e-11	BLAST

Predicted Effect

probably benign
Transcript: ENSMUST00000106816
AA Change: E89G

PolyPhen 2 Score 0.188 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000102429
Gene: ENSMUSG00000009210
AA Change: E89G

Domain	Start	End	E-Value	Type
Pfam:DUF4587	39	110	1.5e-23	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000141146

SMART Domains

Protein: ENSMUSP00000118043
Gene: ENSMUSG00000001029

Domain	Start	End	E-Value	Type
signal peptide	1	23	N/A	INTRINSIC
Pfam:ICAM_N	58	138	2.1e-39	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000173795

SMART Domains

Protein: ENSMUSP00000133315
Gene: ENSMUSG00000001029

Domain	Start	End	E-Value	Type
Pfam:ICAM_N	1	50	2.2e-21	PFAM
Blast:IG_like	55	151	2e-37	BLAST

Predicted Effect

possibly damaging
Transcript: ENSMUST00000190268
AA Change: E89G

PolyPhen 2 Score 0.814 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000139960
Gene: ENSMUSG00000009210
AA Change: E89G

Domain	Start	End	E-Value	Type
Pfam:DUF4587	39	110	2.8e-22	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000185986
AA Change: E82G

PolyPhen 2 Score 0.188 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000140365
Gene: ENSMUSG00000009210
AA Change: E82G

Domain	Start	End	E-Value	Type
Pfam:DUF4587	32	103	1.5e-22	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000190795
AA Change: E39G

PolyPhen 2 Score 0.188 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000140541
Gene: ENSMUSG00000009210
AA Change: E39G

Domain	Start	End	E-Value	Type
Pfam:DUF4587	1	60	9.4e-20	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000188561

SMART Domains

Protein: ENSMUSP00000140194
Gene: ENSMUSG00000009210

Domain	Start	End	E-Value	Type
Pfam:DUF4587	39	101	1.5e-18	PFAM

Meta Mutation Damage Score

0.0982

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.0%
20x: 94.8%

Validation Efficiency

98% (65/66)

Allele List at MGI

Other mutations in this stock

Total: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts12	A	T	15: 11,285,959 (GRCm39)	I723F	probably damaging	Het
Anapc1	G	T	2: 128,483,431 (GRCm39)	D1221E	possibly damaging	Het
Arhgef28	T	A	13: 98,082,204 (GRCm39)	E1201V	possibly damaging	Het
Capn12	T	A	7: 28,581,385 (GRCm39)	H79Q	probably benign	Het
Caprin1	A	T	2: 103,605,925 (GRCm39)		probably benign	Het
Carmil3	T	A	14: 55,731,860 (GRCm39)	F196Y	probably damaging	Het
Casp8ap2	A	G	4: 32,643,810 (GRCm39)	H961R	probably benign	Het
Cdkl3	C	T	11: 51,923,176 (GRCm39)		probably benign	Het
Cic	T	A	7: 24,986,565 (GRCm39)	S1299T	probably damaging	Het
Cic	C	A	7: 24,986,566 (GRCm39)	S1299Y	probably damaging	Het
Col13a1	A	G	10: 61,685,940 (GRCm39)	L684P	unknown	Het
D430041D05Rik	A	T	2: 104,085,389 (GRCm39)	F1053L	probably benign	Het
Dab1	T	C	4: 104,561,396 (GRCm39)		probably benign	Het
Dmxl1	A	T	18: 50,090,362 (GRCm39)		probably benign	Het
Dst	C	T	1: 34,228,200 (GRCm39)	P1606L	probably damaging	Het
Eml1	T	C	12: 108,502,557 (GRCm39)	C708R	possibly damaging	Het
Fam131b	T	A	6: 42,295,182 (GRCm39)	M304L	probably benign	Het
Foxk1	A	T	5: 142,436,095 (GRCm39)	I321F	probably damaging	Het
Gm10306	C	T	4: 94,445,027 (GRCm39)		probably benign	Het
Gm10985	TA	TANA	3: 53,752,677 (GRCm39)		probably null	Het
Gse1	T	C	8: 121,293,285 (GRCm39)		probably benign	Het
Hcn3	A	G	3: 89,067,132 (GRCm39)	S79P	probably damaging	Het
Hspa4	T	A	11: 53,174,412 (GRCm39)	M203L	probably benign	Het
Ints15	G	A	5: 143,293,817 (GRCm39)	T220I	probably damaging	Het
Kctd7	G	A	5: 130,181,414 (GRCm39)	R279H	probably damaging	Het
Kif11	C	T	19: 37,395,431 (GRCm39)		probably benign	Het
Klf13	T	C	7: 63,541,509 (GRCm39)	N206S	probably benign	Het
Kpna7	A	T	5: 144,926,507 (GRCm39)	Y482N	probably damaging	Het
Lamc1	T	C	1: 153,138,329 (GRCm39)	Y175C	probably damaging	Het
Lrpprc	G	A	17: 85,074,435 (GRCm39)	R491*	probably null	Het
Madd	T	A	2: 90,982,894 (GRCm39)	I1350F	probably damaging	Het
Mbtd1	T	C	11: 93,815,375 (GRCm39)	V321A	possibly damaging	Het
Mon2	G	A	10: 122,871,953 (GRCm39)	S357L	possibly damaging	Het
Ndst3	A	G	3: 123,465,162 (GRCm39)	V270A	probably damaging	Het
Nlrp2	T	C	7: 5,325,447 (GRCm39)	T742A	probably damaging	Het
Nopchap1	G	A	10: 83,200,393 (GRCm39)		probably benign	Het
Or6d14	T	C	6: 116,533,910 (GRCm39)	S175P	probably damaging	Het
Papola	A	C	12: 105,799,395 (GRCm39)	S675R	probably benign	Het
Pcdh9	T	A	14: 94,126,081 (GRCm39)	I30F	probably null	Het
Prl6a1	T	A	13: 27,502,011 (GRCm39)	L126Q	probably damaging	Het
Psmd1	T	C	1: 86,021,987 (GRCm39)		probably benign	Het
Rad9b	A	G	5: 122,489,786 (GRCm39)		probably benign	Het
Rest	T	C	5: 77,430,398 (GRCm39)	V939A	probably benign	Het
Rnf135	T	A	11: 80,084,768 (GRCm39)	S180R	probably benign	Het
Sarm1	C	A	11: 78,378,917 (GRCm39)	R376L	probably damaging	Het
Scap	C	A	9: 110,208,798 (GRCm39)	P613Q	probably benign	Het
Scube3	C	T	17: 28,383,331 (GRCm39)	R374*	probably null	Het
Setx	T	G	2: 29,029,233 (GRCm39)	V167G	probably damaging	Het
Snrnp40	T	A	4: 130,262,066 (GRCm39)	H151Q	probably damaging	Het
Sox21	G	T	14: 118,473,029 (GRCm39)	H7N	probably benign	Het
Stard9	A	T	2: 120,533,982 (GRCm39)	Q3413L	probably benign	Het
Sycp1	A	G	3: 102,803,226 (GRCm39)	V528A	probably benign	Het
Tcl1b3	A	T	12: 105,157,498 (GRCm39)	S47C	probably damaging	Het
Treml4	T	C	17: 48,571,962 (GRCm39)	S122P	possibly damaging	Het
Trip11	C	T	12: 101,851,428 (GRCm39)	A879T	probably benign	Het
Ubr4	C	A	4: 139,127,704 (GRCm39)	N567K	probably damaging	Het
Zan	T	C	5: 137,404,781 (GRCm39)		probably benign	Het
Zfp804a	G	A	2: 82,087,544 (GRCm39)	D458N	probably damaging	Het
Zic2	T	C	14: 122,713,755 (GRCm39)	M223T	possibly damaging	Het

Other mutations in Prr29

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00850:Prr29	APN	11	106,266,033 (GRCm39)	missense	possibly damaging	0.93
Partisans	UTSW	11	106,267,085 (GRCm39)	missense	probably damaging	0.96
R0193:Prr29	UTSW	11	106,267,722 (GRCm39)	missense	probably damaging	1.00
R1707:Prr29	UTSW	11	106,267,509 (GRCm39)	missense	probably damaging	0.99
R1861:Prr29	UTSW	11	106,266,264 (GRCm39)	missense	probably damaging	1.00
R3125:Prr29	UTSW	11	106,265,711 (GRCm39)	missense	probably benign	0.00
R4664:Prr29	UTSW	11	106,267,159 (GRCm39)	missense	probably damaging	1.00
R4998:Prr29	UTSW	11	106,267,779 (GRCm39)	missense	probably benign	0.01
R6244:Prr29	UTSW	11	106,267,458 (GRCm39)	splice site	probably null
R6492:Prr29	UTSW	11	106,266,062 (GRCm39)	missense	probably damaging	1.00
R7069:Prr29	UTSW	11	106,267,085 (GRCm39)	missense	probably damaging	0.96
R7254:Prr29	UTSW	11	106,265,684 (GRCm39)	start codon destroyed	probably damaging	0.97
R7611:Prr29	UTSW	11	106,267,158 (GRCm39)	missense	probably damaging	1.00
R8023:Prr29	UTSW	11	106,267,099 (GRCm39)	missense	probably benign	0.45
R8039:Prr29	UTSW	11	106,267,738 (GRCm39)	missense	probably benign	0.10
Z1176:Prr29	UTSW	11	106,267,767 (GRCm39)	missense	possibly damaging	0.56

Predicted Primers

PCR Primer
(F):5'- GGCATCTCCAAATAGCCTAGTCGC -3'
(R):5'- GAGGTACATCTGCACCAACAGTCC -3'

Sequencing Primer
(F):5'- GTGATTATTTGTGCAGACAGAGGC -3'
(R):5'- gagagagagagagagagagagag -3'

Posted On

2013-06-11