Mutagenetix > Incidental Mutation

Incidental Mutation 'R7292:Prob1'

566518

Institutional Source

Beutler Lab

Gene Symbol

Prob1

Ensembl Gene

ENSMUSG00000073600

Gene Name

proline rich basic protein 1

Synonyms

LOC381148, Gm1614

MMRRC Submission

045397-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.148) question?

Stock #

R7292 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

35783400-35788274 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 35787603 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Proline to Leucine at position 217 (P217L)

Ref Sequence

ENSEMBL: ENSMUSP00000140465 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000025209] [ENSMUST00000097619] [ENSMUST00000190196]

AlphaFold

A0A087WR45

Predicted Effect

probably benign
Transcript: ENSMUST00000025209

SMART Domains

Protein: ENSMUSP00000025209
Gene: ENSMUSG00000024352

Domain	Start	End	E-Value	Type
Pfam:SPATA24	10	191	1.5e-83	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000097619
AA Change: P213L

PolyPhen 2 Score 0.930 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000095224
Gene: ENSMUSG00000073600
AA Change: P213L

Domain	Start	End	E-Value	Type
low complexity region	78	102	N/A	INTRINSIC
low complexity region	142	155	N/A	INTRINSIC
low complexity region	207	223	N/A	INTRINSIC
low complexity region	377	396	N/A	INTRINSIC
low complexity region	536	553	N/A	INTRINSIC
low complexity region	829	848	N/A	INTRINSIC
Pfam:DUF4585	862	931	4.6e-27	PFAM
low complexity region	989	1002	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000190196
AA Change: P217L

PolyPhen 2 Score 0.930 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000140465
Gene: ENSMUSG00000073600
AA Change: P217L

Domain	Start	End	E-Value	Type
low complexity region	4	21	N/A	INTRINSIC
low complexity region	82	106	N/A	INTRINSIC
low complexity region	146	159	N/A	INTRINSIC
low complexity region	211	227	N/A	INTRINSIC
low complexity region	381	400	N/A	INTRINSIC
low complexity region	540	557	N/A	INTRINSIC
low complexity region	833	852	N/A	INTRINSIC
Pfam:DUF4585	864	936	7.5e-27	PFAM
low complexity region	993	1006	N/A	INTRINSIC

Meta Mutation Damage Score

0.1096

Coding Region Coverage

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

Validation Efficiency

100% (66/66)

Allele List at MGI

Other mutations in this stock

Total: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700010I14Rik	T	A	17: 9,215,861 (GRCm39)	C322*	probably null	Het
4930553M12Rik	G	A	4: 88,786,568 (GRCm39)	R17C	unknown	Het
Abcc8	G	A	7: 45,784,950 (GRCm39)	T726I	probably benign	Het
Adamts18	T	C	8: 114,436,277 (GRCm39)	T981A	probably benign	Het
Adgrb3	A	G	1: 25,570,957 (GRCm39)	C507R	probably damaging	Het
Bloc1s6	T	A	2: 122,584,615 (GRCm39)	D63E	probably damaging	Het
Cdc25b	C	T	2: 131,033,093 (GRCm39)	R135W	probably damaging	Het
Cdca2	G	T	14: 67,915,326 (GRCm39)	Y644*	probably null	Het
Ceacam10	G	T	7: 24,477,775 (GRCm39)	G97C	probably damaging	Het
Cenpf	G	A	1: 189,382,891 (GRCm39)	L2668F	probably damaging	Het
Cog4	A	G	8: 111,608,460 (GRCm39)	D774G	probably damaging	Het
Col11a2	G	A	17: 34,270,482 (GRCm39)	G511E	unknown	Het
Col19a1	T	A	1: 24,569,089 (GRCm39)	I220F	unknown	Het
Cubn	G	T	2: 13,429,550 (GRCm39)	T1317K	probably damaging	Het
Dnaaf5	T	C	5: 139,136,072 (GRCm39)	L24P	unknown	Het
Eif4a3l2	G	A	6: 116,528,438 (GRCm39)	R105Q	probably damaging	Het
Fan1	T	A	7: 64,022,234 (GRCm39)	N340Y	probably damaging	Het
Foxn4	C	A	5: 114,396,716 (GRCm39)	E256*	probably null	Het
Gm5930	A	G	14: 44,574,014 (GRCm39)	S108P	probably damaging	Het
Gnl3	A	G	14: 30,735,189 (GRCm39)	S468P	probably benign	Het
Gzmb	A	T	14: 56,499,576 (GRCm39)	S11T	probably benign	Het
Hmcn1	T	C	1: 150,608,880 (GRCm39)		probably null	Het
Ifi206	A	G	1: 173,301,428 (GRCm39)	L750P	unknown	Het
Ifi213	T	A	1: 173,422,691 (GRCm39)	E58V	probably damaging	Het
Igkv4-78	A	T	6: 69,036,752 (GRCm39)	Y94N	probably damaging	Het
Igsf9	G	T	1: 172,319,324 (GRCm39)		probably null	Het
Itpr2	G	T	6: 146,060,447 (GRCm39)	L2490M	possibly damaging	Het
Kdm2b	A	G	5: 123,018,854 (GRCm39)	F862S	probably damaging	Het
Kif19b	A	G	5: 140,457,425 (GRCm39)	D398G	probably benign	Het
Meis1	A	G	11: 18,961,351 (GRCm39)	I174T	probably damaging	Het
Micu3	A	G	8: 40,835,166 (GRCm39)	Q507R	probably benign	Het
Mpp4	C	T	1: 59,182,969 (GRCm39)	E313K	possibly damaging	Het
Nfatc4	G	A	14: 56,062,512 (GRCm39)	E7K	probably damaging	Het
Or7g16	A	T	9: 18,727,486 (GRCm39)	Y35N	probably damaging	Het
Or9s18	T	A	13: 65,300,656 (GRCm39)	V206D	possibly damaging	Het
Osbpl5	G	A	7: 143,255,015 (GRCm39)	P470S	probably damaging	Het
Pak6	A	G	2: 118,524,072 (GRCm39)	D409G	possibly damaging	Het
Pierce1	TCTCTGGGGCAGGCTTAGCCTTGGGCTCCCCCGGCTCCGGCTCCTCTGGGGCAGGCTTAGCCTTGGGCTCCCCCGGCTCCGGCTCCTCTGGGGCGGGCTTAGCCTTGGGCTCCCCCGGCTCCGGCTCCTC	TCTCTGGGGCAGGCTTAGCCTTGGGCTCCCCCGGCTCCGGCTCCTCTGGGGCGGGCTTAGCCTTGGGCTCCCCCGGCTCCGGCTCCTC	2: 28,356,122 (GRCm39)		probably benign	Het
Pkhd1l1	T	A	15: 44,361,986 (GRCm39)	M553K	probably benign	Het
Ppp2r3d	T	C	9: 101,089,871 (GRCm39)	N151D	probably damaging	Het
Prdm12	T	C	2: 31,533,862 (GRCm39)	W160R	probably damaging	Het
Prdm2	G	A	4: 142,859,471 (GRCm39)	T1273M	possibly damaging	Het
Prl2a1	A	G	13: 27,991,353 (GRCm39)		probably null	Het
Ramp1	A	C	1: 91,124,499 (GRCm39)	H20P	probably benign	Het
Rbm47	T	A	5: 66,184,093 (GRCm39)	E170V	possibly damaging	Het
Relch	G	T	1: 105,649,141 (GRCm39)		probably null	Het
Rpn1	C	T	6: 88,067,066 (GRCm39)	P142L	probably damaging	Het
Rsu1	C	T	2: 13,174,827 (GRCm39)	R238H	probably damaging	Het
Sh3rf3	C	T	10: 58,907,795 (GRCm39)	P441L	probably damaging	Het
Slc1a6	A	G	10: 78,650,438 (GRCm39)	S559G	possibly damaging	Het
Slc35f5	C	A	1: 125,500,222 (GRCm39)	S245R	probably damaging	Het
Spcs3	T	C	8: 54,979,554 (GRCm39)	N76D	probably benign	Het
Spmip5	A	T	19: 58,777,539 (GRCm39)	Y90*	probably null	Het
Svep1	T	C	4: 58,111,395 (GRCm39)	T1075A	possibly damaging	Het
Sympk	A	T	7: 18,769,955 (GRCm39)	I211F	probably benign	Het
Tk1	C	T	11: 117,716,603 (GRCm39)	M1I	probably null	Het
Tln2	A	G	9: 67,253,743 (GRCm39)	V776A	probably benign	Het
Tmem94	G	T	11: 115,677,082 (GRCm39)	R118L	possibly damaging	Het
Tnk2	T	C	16: 32,499,618 (GRCm39)	V977A	probably benign	Het
Toporsl	A	T	4: 52,611,630 (GRCm39)	S508C	probably benign	Het
Trank1	A	C	9: 111,206,938 (GRCm39)	R1690S	probably benign	Het
Trio	T	A	15: 27,828,437 (GRCm39)	Q1409L	possibly damaging	Het
Vit	T	C	17: 78,912,927 (GRCm39)	F287L	probably benign	Het
Vmn2r109	G	C	17: 20,761,700 (GRCm39)	D552E	probably benign	Het
Zw10	T	C	9: 48,972,491 (GRCm39)	V186A	probably benign	Het

Other mutations in Prob1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01400:Prob1	APN	18	35,786,386 (GRCm39)	missense	possibly damaging	0.91
IGL02352:Prob1	APN	18	35,785,893 (GRCm39)	missense	possibly damaging	0.53
IGL02359:Prob1	APN	18	35,785,893 (GRCm39)	missense	possibly damaging	0.53
IGL02823:Prob1	APN	18	35,785,800 (GRCm39)	missense	possibly damaging	0.86
IGL03003:Prob1	APN	18	35,786,428 (GRCm39)	missense	possibly damaging	0.73
IGL03390:Prob1	APN	18	35,787,192 (GRCm39)	missense	probably benign	0.03
R0257:Prob1	UTSW	18	35,786,092 (GRCm39)	missense	possibly damaging	0.53
R0421:Prob1	UTSW	18	35,786,083 (GRCm39)	missense	possibly damaging	0.70
R0457:Prob1	UTSW	18	35,785,539 (GRCm39)	missense	probably damaging	0.98
R0485:Prob1	UTSW	18	35,786,878 (GRCm39)	missense	possibly damaging	0.53
R0575:Prob1	UTSW	18	35,787,774 (GRCm39)	missense	possibly damaging	0.85
R1056:Prob1	UTSW	18	35,786,663 (GRCm39)	missense	probably benign
R1147:Prob1	UTSW	18	35,787,859 (GRCm39)	nonsense	probably null
R1334:Prob1	UTSW	18	35,786,305 (GRCm39)	missense	possibly damaging	0.53
R1727:Prob1	UTSW	18	35,787,364 (GRCm39)	missense	possibly damaging	0.73
R1753:Prob1	UTSW	18	35,786,305 (GRCm39)	missense	possibly damaging	0.53
R1826:Prob1	UTSW	18	35,786,628 (GRCm39)	missense	possibly damaging	0.72
R1895:Prob1	UTSW	18	35,785,942 (GRCm39)	missense	possibly damaging	0.53
R1937:Prob1	UTSW	18	35,787,279 (GRCm39)	missense	possibly damaging	0.53
R2170:Prob1	UTSW	18	35,787,790 (GRCm39)	missense	probably benign	0.18
R3435:Prob1	UTSW	18	35,787,294 (GRCm39)	missense	possibly damaging	0.72
R4749:Prob1	UTSW	18	35,785,869 (GRCm39)	missense	possibly damaging	0.91
R4968:Prob1	UTSW	18	35,785,605 (GRCm39)	missense	probably damaging	0.98
R5107:Prob1	UTSW	18	35,785,989 (GRCm39)	missense	possibly damaging	0.53
R5602:Prob1	UTSW	18	35,787,079 (GRCm39)	missense	possibly damaging	0.96
R5646:Prob1	UTSW	18	35,787,167 (GRCm39)	missense	probably benign	0.18
R6035:Prob1	UTSW	18	35,787,835 (GRCm39)	missense	probably benign	0.18
R6747:Prob1	UTSW	18	35,788,207 (GRCm39)	missense	probably damaging	0.97
R6954:Prob1	UTSW	18	35,787,321 (GRCm39)	missense	probably benign
R7061:Prob1	UTSW	18	35,787,553 (GRCm39)	missense	probably benign	0.18
R7296:Prob1	UTSW	18	35,786,352 (GRCm39)	missense	possibly damaging	0.53
R7566:Prob1	UTSW	18	35,788,038 (GRCm39)	missense	probably benign	0.33
R7723:Prob1	UTSW	18	35,785,942 (GRCm39)	missense	possibly damaging	0.53
R7787:Prob1	UTSW	18	35,785,285 (GRCm39)	missense	possibly damaging	0.73
R7798:Prob1	UTSW	18	35,786,397 (GRCm39)	missense	possibly damaging	0.93
R8048:Prob1	UTSW	18	35,786,604 (GRCm39)	missense	probably benign	0.00
R8101:Prob1	UTSW	18	35,786,286 (GRCm39)	missense	possibly damaging	0.85
R8260:Prob1	UTSW	18	35,787,210 (GRCm39)	missense	possibly damaging	0.86
R8676:Prob1	UTSW	18	35,787,039 (GRCm39)	missense	possibly damaging	0.53
R9304:Prob1	UTSW	18	35,787,708 (GRCm39)	missense	probably damaging	1.00
R9440:Prob1	UTSW	18	35,786,218 (GRCm39)	missense	possibly damaging	0.53
X0067:Prob1	UTSW	18	35,786,144 (GRCm39)	missense	possibly damaging	0.70
Z1088:Prob1	UTSW	18	35,785,822 (GRCm39)	missense	possibly damaging	0.85

Predicted Primers

PCR Primer
(F):5'- GGCTTGGCGGTAGACTTAAAAG -3'
(R):5'- TACCTTCAGCAGTCCCCAGC -3'

Sequencing Primer
(F):5'- ACTTAAAAGTGACGTTGCTGG -3'
(R):5'- TGTCTCATCGCAGCCGCAG -3'

Posted On

2019-06-26