Mutagenetix > Incidental Mutation

Incidental Mutation 'R7611:Prr29'

588618

Institutional Source

Beutler Lab

Gene Symbol

Prr29

Ensembl Gene

ENSMUSG00000009210

Gene Name

proline rich 29

Synonyms

2310007L24Rik

MMRRC Submission

045715-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7611 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

106365472-106377558 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to G at 106376332 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Aspartic acid at position 58 (H58D)

Ref Sequence

ENSEMBL: ENSMUSP00000009354 (fasta)

Gene Model

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

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 damaging
Transcript: ENSMUST00000009354
AA Change: H58D

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

SMART Domains

Protein: ENSMUSP00000009354
Gene: ENSMUSG00000009210
AA Change: H58D

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

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 damaging
Transcript: ENSMUST00000106816
AA Change: H108D

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

SMART Domains

Protein: ENSMUSP00000102429
Gene: ENSMUSG00000009210
AA Change: H108D

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

probably damaging
Transcript: ENSMUST00000185986
AA Change: H101D

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

SMART Domains

Protein: ENSMUSP00000140365
Gene: ENSMUSG00000009210
AA Change: H101D

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000190268
AA Change: H108D

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

SMART Domains

Protein: ENSMUSP00000139960
Gene: ENSMUSG00000009210
AA Change: H108D

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000190795
AA Change: H58D

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

SMART Domains

Protein: ENSMUSP00000140541
Gene: ENSMUSG00000009210
AA Change: H58D

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.0%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700029J07Rik	A	G	8: 45,970,451 (GRCm38)	Y75H	probably damaging	Het
Acta2	G	A	19: 34,252,531 (GRCm38)	T8I	probably benign	Het
Adcy8	C	T	15: 64,921,033 (GRCm38)	G25S	probably benign	Het
Ahnak2	G	T	12: 112,788,129 (GRCm38)	D35E		Het
Birc6	T	C	17: 74,662,718 (GRCm38)	M4261T	probably damaging	Het
Caln1	T	G	5: 130,506,077 (GRCm38)	F45V	probably damaging	Het
Camta2	A	T	11: 70,681,546 (GRCm38)	I313N	possibly damaging	Het
Capns1	T	A	7: 30,190,114 (GRCm38)	E220V	probably damaging	Het
Carmil1	C	A	13: 24,013,332 (GRCm38)	V1374L	probably benign	Het
Casp2	T	G	6: 42,274,038 (GRCm38)	L290R	possibly damaging	Het
Cdkn2b	C	A	4: 89,310,743 (GRCm38)	V19L	probably benign	Het
Ces1c	T	C	8: 93,124,511 (GRCm38)	N162D	probably benign	Het
Chd9	T	C	8: 91,036,389 (GRCm38)	S2281P	probably damaging	Het
Chst13	T	C	6: 90,309,017 (GRCm38)	D321G	probably damaging	Het
Ckap2l	G	T	2: 129,285,680 (GRCm38)	P193T	possibly damaging	Het
Clca4b	T	A	3: 144,921,996 (GRCm38)	T405S	probably benign	Het
Cmah	T	C	13: 24,435,647 (GRCm38)	V265A	probably benign	Het
Cyp3a11	A	T	5: 145,860,381 (GRCm38)	M396K	probably benign	Het
Ddr2	A	T	1: 169,998,158 (GRCm38)	M291K	possibly damaging	Het
Ddx43	T	A	9: 78,402,353 (GRCm38)	I145N	probably benign	Het
Ddx58	T	C	4: 40,225,651 (GRCm38)	E250G	probably damaging	Het
Ephb2	T	A	4: 136,660,901 (GRCm38)		probably null	Het
Fgfr1	A	T	8: 25,558,205 (GRCm38)	K106*	probably null	Het
Gpr6	A	G	10: 41,070,879 (GRCm38)	F236L	probably benign	Het
Grin2c	A	G	11: 115,252,685 (GRCm38)	S750P	probably damaging	Het
Hecw2	A	G	1: 53,913,300 (GRCm38)	S925P	probably damaging	Het
Hivep3	CGG	CG	4: 120,097,911 (GRCm38)	1141	probably null	Het
Hmg20b	T	A	10: 81,349,598 (GRCm38)		probably benign	Het
Kcnk10	T	A	12: 98,518,640 (GRCm38)	Y79F	probably damaging	Het
Lrrc30	A	T	17: 67,632,429 (GRCm38)	F52Y	probably damaging	Het
Lrriq1	T	C	10: 103,200,571 (GRCm38)	K907R	possibly damaging	Het
Mbd3	T	C	10: 80,395,518 (GRCm38)	D63G	probably damaging	Het
Mettl21a	C	T	1: 64,615,107 (GRCm38)	A84T	probably benign	Het
Mmp19	A	G	10: 128,798,988 (GRCm38)	D491G	probably benign	Het
Mug1	A	T	6: 121,875,428 (GRCm38)		probably null	Het
Myh1	A	T	11: 67,210,417 (GRCm38)	H673L	possibly damaging	Het
Nlrc5	T	C	8: 94,512,648 (GRCm38)		probably null	Het
Nme9	T	A	9: 99,470,790 (GRCm38)	S264R	probably benign	Het
Nup153	T	C	13: 46,687,322 (GRCm38)	T937A	probably benign	Het
Obsl1	T	C	1: 75,505,380 (GRCm38)	E282G	probably damaging	Het
Olfr1030	T	A	2: 85,984,063 (GRCm38)	C74*	probably null	Het
Olfr1076	T	A	2: 86,509,053 (GRCm38)	I198K	possibly damaging	Het
Olfr1364	A	G	13: 21,574,318 (GRCm38)	V46A	probably benign	Het
Olfr1436	T	A	19: 12,298,878 (GRCm38)	M85L	probably damaging	Het
Olfr1451	T	A	19: 12,999,067 (GRCm38)	I27N	possibly damaging	Het
Olfr724	C	A	14: 49,960,911 (GRCm38)	A54S	probably benign	Het
Olfr98	A	G	17: 37,262,854 (GRCm38)	V270A	probably benign	Het
Pcdhga12	T	C	18: 37,768,425 (GRCm38)	F770S	possibly damaging	Het
Pfkp	T	A	13: 6,605,083 (GRCm38)		probably null	Het
Ptprz1	T	A	6: 23,001,220 (GRCm38)	M1103K	probably benign	Het
Rsph4a	C	T	10: 33,905,477 (GRCm38)	P108S	probably benign	Het
Setd1b	A	C	5: 123,152,594 (GRCm38)	M875L	unknown	Het
Slc15a2	A	G	16: 36,756,311 (GRCm38)	S485P	probably benign	Het
Smoc1	A	G	12: 81,179,670 (GRCm38)	D423G	probably damaging	Het
Spast	T	A	17: 74,369,203 (GRCm38)	V337D	probably damaging	Het
Spesp1	T	C	9: 62,272,705 (GRCm38)	K307R	possibly damaging	Het
Sulf1	A	G	1: 12,836,243 (GRCm38)	E503G	probably benign	Het
Susd6	T	C	12: 80,874,567 (GRCm38)	Y313H	probably damaging	Het
Them4	A	T	3: 94,331,558 (GRCm38)	D224V	possibly damaging	Het
Tpsg1	G	T	17: 25,373,210 (GRCm38)	G86V	probably damaging	Het
Tspear	A	T	10: 77,881,215 (GRCm38)	T575S	probably benign	Het
Usp21	A	T	1: 171,285,569 (GRCm38)	H211Q	probably benign	Het
Vmn1r189	T	C	13: 22,102,152 (GRCm38)	S172G	probably benign	Het
Vmn2r114	T	C	17: 23,296,970 (GRCm38)	S516G	probably damaging	Het
Vmn2r28	T	A	7: 5,481,256 (GRCm38)	R648S	probably benign	Het
Vmn2r6	C	A	3: 64,565,142 (GRCm38)	V53F	probably damaging	Het
Vmn2r76	A	G	7: 86,230,180 (GRCm38)	I304T	probably benign	Het
Vmn2r88	A	C	14: 51,413,997 (GRCm38)	Y256S		Het
Zfhx4	A	T	3: 5,403,771 (GRCm38)	K3021N	probably damaging	Het
Zfp647	T	C	15: 76,911,788 (GRCm38)	H224R	probably damaging	Het
Zfp865	A	G	7: 5,031,131 (GRCm38)	E705G	probably damaging	Het

Other mutations in Prr29

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00850:Prr29	APN	11	106,375,207 (GRCm38)	missense	possibly damaging	0.93
Partisans	UTSW	11	106,376,259 (GRCm38)	missense	probably damaging	0.96
R0027:Prr29	UTSW	11	106,376,276 (GRCm38)	missense	possibly damaging	0.81
R0193:Prr29	UTSW	11	106,376,896 (GRCm38)	missense	probably damaging	1.00
R1707:Prr29	UTSW	11	106,376,683 (GRCm38)	missense	probably damaging	0.99
R1861:Prr29	UTSW	11	106,375,438 (GRCm38)	missense	probably damaging	1.00
R3125:Prr29	UTSW	11	106,374,885 (GRCm38)	missense	probably benign	0.00
R4664:Prr29	UTSW	11	106,376,333 (GRCm38)	missense	probably damaging	1.00
R4998:Prr29	UTSW	11	106,376,953 (GRCm38)	missense	probably benign	0.01
R6244:Prr29	UTSW	11	106,376,632 (GRCm38)	splice site	probably null
R6492:Prr29	UTSW	11	106,375,236 (GRCm38)	missense	probably damaging	1.00
R7069:Prr29	UTSW	11	106,376,259 (GRCm38)	missense	probably damaging	0.96
R7254:Prr29	UTSW	11	106,374,858 (GRCm38)	start codon destroyed	probably damaging	0.97
R8023:Prr29	UTSW	11	106,376,273 (GRCm38)	missense	probably benign	0.45
R8039:Prr29	UTSW	11	106,376,912 (GRCm38)	missense	probably benign	0.10
Z1176:Prr29	UTSW	11	106,376,941 (GRCm38)	missense	possibly damaging	0.56

Predicted Primers

PCR Primer
(F):5'- TTTGTGCAGACAGAGGCTCAG -3'
(R):5'- ATGGCATTTGAGGCTTTACCCC -3'

Sequencing Primer
(F):5'- CTCAGGAGGTGGAGCAGTG -3'
(R):5'- TTCGACCTAGATCGGGATCCTG -3'

Posted On

2019-10-24